| Description | Gene-disease co-occurrence scores from text-mining biomedical abstracts |
| Measurement | association by text-mining |
| Association | gene-disease associations from automated text-mining of biomedical literature |
| Category | disease or phenotype associations |
| Resource | DISEASES |
| Citation(s) | |
| Last Updated | 2025 Apr 09 |
| Stats |
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| API | |
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Gene Attribute
Gene Similarity
Attribute Similarity
UMAP
9698 sets of genes co-occuring with diseases in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
| Gene Set | Description |
|---|---|
| Geroderma osteodysplasticum | |
| Disease | A disease is a disposition that describes states of disease associated with a particular sample and/or organism. |
| Retinitis pigmentosa 2 | |
| Disease of anatomical entity | A disease that manifests in a defined anatomical structure. |
| Periventricular nodular heterotopia | A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain. |
| Cancer | A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease. |
| Disease of cellular proliferation | A disease that is characterized by abnormally rapid cell division. |
| Organ system cancer | A cancer that is classified based on the organ it starts in. |
| Nervous system disease | A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system. |
| Cell type cancer | A cancer that is classified by the type of cell from which it is derived. |
| Carcinoma | A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases. |
| Central nervous system disease | A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system. |
| Breast cancer | A thoracic cancer that originates in the mammary gland. |
| Thoracic cancer | An organ system cancer located_in the thoracic cavity that develops in the different types of cells within the lungs, as well as less common cancers of the esophagus, the trachea, or the chest wall. |
| Breast disease | A thoracic disease that is located_in the breast. |
| Thoracic disease | A disease of anatomical entity that is located_in the thoracic cavity. |
| Joubert syndrome 8 | |
| Gastrointestinal system disease | A disease of anatomical entity that is located_in the gastrointestinal tract. |
| Reproductive organ cancer | An organ system cancer that is manifested in the reproductive organs. |
| Bardet-Biedl syndrome 19 | |
| Reproductive system disease | A disease of anatomical entity that is located_in reproductive system organs. |
| Gastrointestinal system cancer | An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system. |
| Immunodeficiency 72 | |
| Uveal melanoma | A uveal cancer that has_material_basis_in uvea pigment cells. |
| Uveal cancer | |
| Genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |
| Retinitis pigmentosa 47 | |
| Nervous system cancer | An organ system cancer located_in the nervous sytem that affects the central or peripheral nervous system. |
| Osteogenesis imperfecta type 19 | |
| Lenz-Majewski hyperostotic dwarfism | Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis. |
| Disease by infectious agent | A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions. |
| Endocrine gland cancer | An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system. |
| Melanoma | A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445)|A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain. |
| Essential tremor | A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms. |
| Ciliopathy | Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms. |
| Monogenic disease | A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele). |
| Respiratory system disease | A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm. |
| Female reproductive organ cancer | A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva. |
| Female reproductive system disease | A reproductive system disease that impairs the ability to reproduce and is located in the uterus, vagina, cervix, ovaries or fallopian tubes. |
| Endocrine system disease | A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. |
| Respiratory system cancer | An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract. |
| Syndrome | A disease comprised of a group of signs and symptoms that occur together and characterize a particular abnormality. |
| Lung disease | A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide. |
| Congenital nervous system abnormality | |
| Lower respiratory tract disease | A respiratory system disease which involves the lower respiratory tract. |
| Male reproductive system disease | A reproductive system disease that affects male reproductive organs. |
| Autosomal genetic disease | A monogenic disease that is caused by a mutation in a single gene on one of the non-sex chromosomes. |
| Amyotrophic lateral sclerosis type 7 | A type of ALS with loci associated with the disease located_in chromosome 20. |
| Lung cancer | A respiratory system cancer that is located_in the lung. |
| Liver disease | Any disease or dysfunction of the liver and the intrahepatic bile ducts.|Pathological processes of the LIVER. |
| Hepatobiliary disease | A gastrointestinal system disease that is located_in the liver and/or biliary tract. |
| Joubert syndrome | An autosomal recessive disease that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones resulting from dysfunction of ciliary proteins (ciliopathy). |
| Distal arthrogryposis type 5D | |
| Cutis laxa | A skin disease characterized by skin that is loose, hanging, wrinkled and lacking in elasticity; it can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines and lungs. |
| Prostate cancer | A male reproductive organ cancer that is located_in the prostate. |
| Legionellosis | A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea. |
| Prostate disease | |
| Central nervous system cancer | A primary or metastatic malignant neoplasm involving the brain or spinal cord. Representative examples include anaplastic astrocytoma, glioblastoma, anaplastic (malignant) meningioma, lymphoma, and metastatic carcinoma from another anatomic site.|Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH). |
| Male reproductive organ cancer | A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum. |
| Hepatobiliary system cancer | |
| Physical disorder | A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. |
| Liver cancer | A gastrointestinal system cancer that is located_in the liver. |
| Brain disease | |
| Glioblastoma | |
| Gonadal disease | An endocrine system disease that is located_in the gonads. |
| Malignant astrocytoma | |
| Eye disease | An eye and adnexa disease that is located_in the eye. |
| Disease of mental health | A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture. |
| Uveal disease | |
| Musculoskeletal system disease | A disease of anatomical entity that occurs in the muscular and/or skeletal system. |
| Sensory system disease | A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell). |
| High grade glioma | |
| Autosomal recessive disease | An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. |
| Lung carcinoma | A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis. |
| Ovarian cancer | A female reproductive organ cancer that is located_in the ovary. |
| Ovarian disease | |
| Disease of metabolism | A disease that involving errors in metabolic processes of building or degradation of molecules. |
| Lung non-small cell carcinoma | |
| Megalencephalic leukoencephalopathy with subcortical cysts 1 | |
| cone-rod dystrophy 18 | |
| Liver carcinoma | A liver cancer that has_material_basis_in epithelial cells. |
| Hypomyelinating leukodystrophy 9 | |
| Microcephaly | OMIM mapping confirmed by DO. [SN]. |
| alopecia, neurologic defects, and endocrinopathy syndrome | |
| Hepatocellular carcinoma | A primary malignant neoplasm of epithelial liver cells. It ranges from a well-differentiated tumor with EPITHELIAL CELLS indistinguishable from normal HEPATOCYTES to a poorly differentiated neoplasm. The cells may be uniform or markedly pleomorphic, or form GIANT CELLS. Several classification schemes have been suggested.|Tumors or cancer of the LIVER.|A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation. --2002|A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation. |
| Viral infectious disease | A disease by infectious agent that results_in infection, has_material_basis_in Viruses. |
| Morphine dependence | An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance. |
| Autosomal recessive cutis laxa type IIA | |
| Sensory system cancer | A nervous system cancer that is located_in the sensory system. |
| Ocular cancer | A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye. |
| Bardet-Biedl syndrome 3 | |
| Retinitis pigmentosa | A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss. |
| Adenocarcinoma | A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures.|A malignant epithelial tumor with a glandular organization. |
| CHILD syndrome | CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. |
| Stomach cancer | A gastrointestinal system cancer that is located_in the stomach. |
| Verruciform xanthoma of skin | |
| Urinary system disease | A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra. |
| Autosomal recessive cutis laxa type II classic type | |
| Stomach disease | A gastrointestinal system disease that is located_in the stomach. |
| Integumentary system disease | A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages. |
| Sarcoma | A usually aggressive malignant mesenchymal cell tumor most commonly arising from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the tumor. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma.|A malignant mesenchymal neoplasm arising exclusively from the soft tissues. Representative examples include soft tissue sarcoma, extraosseous Ewing sarcoma/peripheral primitive neuroectodermal tumor, and malignant hemangiopericytoma.|Neoplasms developing from some structure of the connective and subcutaneous tissue. The concept does not refer to neoplasms located in connective or soft tissue.|A cancer that affects connective tissue resulting in mesoderm proliferation.|A malignant mesenchymal neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones.|Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue. |
| Congenital vertical talus | |
| Kidney disease | A disease affecting the kidneys |
| Uterine cancer | A female reproductive organ cancer that is located_in the uterus. |
| Neurodegenerative disease | A central nervous system disease that results_in the progressive deterioration of function or structure of neurons. |
| Punctate palmoplantar keratoderma | |
| Carpenter syndrome | An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly. |
| Inherited metabolic disorder | A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inhertied enzyme abnormality. |
| Retinal degeneration | |
| Intellectual disability | A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills. |
| Eye degenerative disease | |
| Waisman syndrome | |
| Intestinal cancer | A gastrointestinal system cancer that is located_in the intestine. |
| Uterine disease | A female reproductive system disease that is located_in the uterus. |
| Connective tissue disease | A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. |
| Spondyloepimetaphyseal dysplasia with joint laxity type 1 | |
| Fazio-Londe disease | |
| Intestinal disease | A gastrointestinal system disease that is located_in the intestine. |
| Skin disease | An integumentary system disease that is located_in skin. |
| Achondrogenesis | An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period. |
| Colorectal cancer | A large intestine cancer that is located in the colon and/or located in the rectum. |
| Chylomicron retention disease | Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications. |
| Large intestine cancer | An intestinal cancer that effects the long, tube-like organ that is connected to the small intestine at one end and the anus at the other. |
| Pancreas disease | An endocrine system disease that is located_in the pancreas. |
| Pancreatic cancer | An endocrine gland cancer located_in the pancreas. |
| Urinary system cancer | An organ system cancer that is located_in the kidneys, ureteres, bladder or urethra. |
| Retinal disease | An eye disease that is located_in the retina. |
| hand, foot and mouth disease | A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet. |
| Cholera | A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium Vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock. |
| Carbohydrate metabolic disorder | An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates. |
| Rhabdomyosarcoma | |
| X-linked monogenic disease | |
| Specific developmental disorder | A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination. |
| Legionnaires' disease | A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough. |
| Opiate dependence | A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance. |
| Primary bacterial infectious disease | A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread. |
| Developmental disorder of mental health | A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development. |
| Skeletal muscle cancer | |
| Musculoskeletal system cancer | An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs. |
| Cervical cancer | A female reproductive organ cancer that is located_in the cervix. |
| Muscle cancer | A musculoskeletal system cancer that is located_in muscle. |
| Cervix disease | |
| Cognitive disorder | A disease of mental health that affects cognitive functions including memory processing, perception and problem solving. |
| Kidney cancer | A urinary system cancer that is located_in the kidney. |
| Peeling skin syndrome 2 | |
| Lung adenocarcinoma | A non-small cell lung carcinoma that derives_from epithelial cells of glandular origin. |
| Combined oxidative phosphorylation deficiency 12 | |
| Drug dependence | Disorders related to substance abuse, the side effects of a medication, or toxin exposure. |
| Cardiovascular system disease | A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. |
| Glucose metabolism disease | |
| Congenital disorder of glycosylation type IIe | |
| Squamous cell carcinoma | A carcinoma that derives_from squamous epithelial cells. |
| Female breast carcinoma | A breast carcinoma that is manifested in the female breast. |
| Autosomal dominant disease | An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. |
| Congenital disorder of glycosylation | A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids. |
| Skin melanoma | A skin cancer that has_material_basis_in melanocytes. |
| Bone disease | A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function. |
| Bacterial infectious disease | A disease by infectious agent that results_in infection, has_material_basis_in Bacteria. |
| Upper respiratory tract disease | A respiratory system disease which involves the upper respiratory tract. |
| Bardet-Biedl syndrome | An autosomal recessive disease that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. |
| Amphetamine abuse | A substance abuse that involves the recurring use of amphetamines despite negative consequences. |
| Muscular disease | A musculoskeletal system disease that affects the muscles. |
| Spondyloepimetaphyseal dysplasia with joint laxity | |
| Subcortical band heterotopia | |
| Immune system disease | A disease of anatomical entity that is located_in the immune system. |
| Frontotemporal dementia | A basal ganglia disease characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language. |
| X-linked chondrodysplasia punctata 2 | |
| Bone remodeling disease | A bone disease that results_in formation or resorption abnormalities located_in bone. |
| Osteoporosis | Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis. |
| Bone resorption disease | A bone remodeling disease that results in an abnormal decrease of bone density or mass. |
| Diabetes mellitus | A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.|A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE. |
| Peeling skin syndrome 1 | |
| Autosomal recessive polycystic kidney disease | |
| PCWH syndrome | |
| Immunodeficiency 43 | |
| MEDNIK syndrome | |
| Vascular disease | A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart. |
| Mouth disease | A gastrointestinal system disease that is located_in the mouth. |
| Acquired metabolic disease | A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption. |
| Head and neck cancer | An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx. |
| Nasopharynx carcinoma | A pharynx cancer that is located_in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract. |
| non-syndromic intellectual disability | An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms. |
| Nutrition disease | An acquired metabolic disease that is characterized by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods. |
| Pharynx cancer | A gastrointestinal system cancer that is located_in the pharyx. |
| Movement disease | |
| Epidemic typhus | A typhus that has_material_basis_in Rickettsia prowazekii, which is transmitted_by human body louse (Pediculus humanus corporis). The infection has_symptom high fever, has_symptom cough, has_symptom rash, has_symptom severe muscle pain, has_symptom chills, has_symptom falling blood pressure, has_symptom stupor, has_symptom sensitivity to light, and has_symptom delirium. |
| Brain cancer | A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain. |
| Nasopharyngeal disease | |
| Breast carcinoma | Tumors or cancer of the human BREAST.|A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla.|A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla.|A carcinoma that derives_from breast tissue.|Cancer of the human MAMMARY GLAND.|Tumor or cancer of the human MAMMARY GLAND.|A carcinoma that originates from breast tissue. |
| Obesity | An eating-related disorder in which excess body fat has accumulated to such an extent that health may be negatively affected. It is commonly defined as a body mass index (weight divided by height squared) of 30 kg/m2 or higher.|A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY). |
| Overnutrition | Updated outdated UMLS CUI. |
| Endometriosis | The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs. |
| Renal cell carcinoma | A carcinoma arising from the renal parenchyma. The incidence of renal cell carcinoma has increased by 35% from 1973 to 1991. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Diagnostic procedures include: ultra sound, intravenous pyelography and computed tomography (CT). Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy.|A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma. |
| Coronavirus infectious disease | |
| Plasmodium falciparum malaria | A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever. |
| Western equine encephalitis | A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus, which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness. |
| Prostate carcinoma | A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| Primary immunodeficiency disease | An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation. |
| Metabolic dysfunction and alcohol associated liver disease | |
| Osteogenesis imperfecta | An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. |
| Brown-Vialetto-Van Laere syndrome | OMIM mapping confirmed by DO. [SN]. |
| Renal carcinoma | A kidney cancer that derives_from the lining of the proximal convoluted tubule (the very small tubes in the kidney that filter the blood and remove waste products). |
| Salmonellosis | |
| Peeling skin syndrome | NT MGI. |
| Progressive bulbar palsy | |
| Cerebellar medulloblastoma | A cerebellum cancer that begins in the lower part of the brain on the floor of the skull. |
| Hepatitis | |
| Integumentary system cancer | An organ system cancer that is located_in the skin, hair and nails. |
| Inclusion body myositis | A myositis that is characterized by slowly progressive weakness and wasting of both distal and proximal muscles, most apparent in the muscles of the arms and legs that can occur in a sporadic or hereditary forms. |
| Skin cancer | An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells. |
| Colonic disease | |
| Hematopoietic system disease | An immune system disease that has_material_basis_in hematopoietic cells. |
| Clear cell renal cell carcinoma | disease cluster belonging to disease group cancer |
| Hypomyelinating leukodystrophy 6 | |
| Meckel syndrome | An autosomal recessive disease that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia caused by dysfunction of primary cilia (ciliopathy) during early embryogenesis. |
| Oculocerebrorenal syndrome | OMIM mapping confirmed by DO. [SN]. |
| Autonomic nervous system neoplasm | A peripheral nervous system neoplasm that is located_in the autonomic nervous system. |
| Neuroblastoma | A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation.|A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51)|A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome (MeSH). |
| Colon cancer | A colorectal cancer that is located_in the colon. |
| Amyotrophic lateral sclerosis | A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts (MeSH).|An autosomal dominant inherited form of amyloidosis.|A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94) |
| Griscelli syndrome | |
| Tauopathy | Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain. |
| Autoimmune disease | |
| Peripheral nervous system neoplasm | A nervous system cancer that is located_in the peripheral nervous system. |
| Type 2 diabetes mellitus | A diabetes mellitus that involves high blood glucose resulting from cells fail to use insulin properly. |
| alpha-mannosidosis | A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome. |
| Occipital horn syndrome | Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect. |
| Motor neuron disease | A neurodegenerative disease that is located_in the motor neurones. |
| Bone development disease | A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage. |
| Hematologic cancer | An immune system cancer located_in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes. |
| Peripheral nervous system disease | A nervous system disease that affects the peripheral nervous system. |
| Endometrial cancer | A uterine cancer that is located_in tissues lining the uterus. |
| Heart disease | A cardiovascular system disease that involves the heart. |
| Ehlers-Danlos syndrome | A collagen disease and a monogenic disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. |
| COVID-19 | |
| Mucolipidosis II alpha/beta | |
| Mucolipidosis | A lysosomal storage disease that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). |
| Mucolipidosis III alpha/beta | |
| Sphingolipidosis | |
| Lysosomal storage disease | An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. |
| Lipid storage disease | A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues. |
| Niemann-Pick disease | OMIM mapping confirmed by DO. [SN]. |
| Gaucher's disease | A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver. |
| Syndromic X-linked intellectual disability 5 | |
| Mucopolysaccharidosis | A lysosomal storage disease that involves he accumulation of glycosaminoglycans in the tissues and their excretion in the urine. |
| Fabry disease | OMIM mapping confirmed by DO. [SN]. |
| Mucopolysaccharidosis Ih | |
| Neuronal ceroid lipofuscinosis | Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina. |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | |
| Gangliosidosis | |
| Glycogen storage disease II | A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome. |
| Mucopolysaccharidosis I | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase. |
| GM2 gangliosidosis | |
| Schaaf-Yang syndrome | |
| Neuronal ceroid lipofuscinosis 3 | |
| Alzheimer's disease | A dementia that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting in late middle age and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability.|A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.|A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)|A dementia which is an incurable disease of unknown cause, starting in late middle age or in old age, that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood, that leads in advanced cases to a profound decline in cognitive and physical functioning, and that is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. |
| C syndrome | C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability. |
| Paraplegia | |
| Sandhoff disease | OMIM mapping confirmed by DO. [SN]. |
| Variola minor | A smallpox that results_in milder infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions. |
| Smith-Lemli-Opitz syndrome | OMIM mapping confirmed by DO. [LS]. |
| Danon disease | OMIM mapping confirmed by DO. [SN]. |
| Hermansky-Pudlak syndrome 2 | |
| Cerebrocostomandibular syndrome | |
| Gastroenteritis | A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. Chemicals and drugs also cause gastroenteritis. The symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen. |
| Prader-Willi syndrome | OMIM mapping confirmed by DO. [SN]. |
| Superior semicircular canal dehiscence | |
| Mucopolysaccharidosis III | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain. |
| Glycogen storage disease | A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. |
| Glycogen metabolism disorder | A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen. |
| Niemann-Pick disease type A | |
| Variola major | A smallpox that results_in severe infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions. |
| Hereditary spastic paraplegia | A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs. |
| Autosomal recessive spinocerebellar ataxia 10 | |
| Dementia | An acquired organic mental disorder with loss of intellectual abilities of sufficient severity to interfere with social or occupational functioning. The dysfunction is multifaceted and involves memory, behavior, personality, judgment, attention, spatial relations, language, abstract thought, and other executive functions. The intellectual decline is usually progressive, and initially spares the level of consciousness. |
| Progressive myoclonus epilepsy 3 | |
| GM1 gangliosidosis | |
| Mucopolysaccharidosis type IIIA | |
| Vertebrobasilar insufficiency | |
| Lysosomal acid lipase deficiency | Lysosomal acid lipase A (LIPA) deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis. |
| Hermansky-Pudlak syndrome | An autosomal recessive disease characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. |
| Progressive myoclonus epilepsy | |
| Arthrogryposis multiplex congenita | |
| Variable age at onset electroclinical syndrome | |
| Griscelli syndrome type 2 | |
| Polycystic liver disease | |
| Congenital disorder of glycosylation type I | A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor. |
| Parkinson's disease | A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75)|A neurodegenerative disease that results_from degeneration of the central nervous system that often impairs the sufferer's motor skills, speech, and other functions. |
| Synucleinopathy | A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. |
| Amyotrophic lateral sclerosis type 11 | A type of ALS caused_by mutation located_in FIG4 gene located_in chromosome 6. |
| Amyotrophic lateral sclerosis type 8 | A type of ALS caused_by mutation located_in VAPB gene located_in chromosome 20. |
| Chediak-Higashi syndrome | OMIM mapping confirmed by DO. [SN]. |
| Tangier disease | OMIM mapping confirmed by DO. [LS]. |
| Metachromatic leukodystrophy | A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system. |
| Autosomal recessive spinocerebellar ataxia 20 | |
| Neuronal ceroid lipofuscinosis 10 | |
| Progressive myoclonus epilepsy 4 | |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | |
| Mucopolysaccharidosis IV | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain. |
| Wolman disease | |
| Amyotrophic lateral sclerosis type 4 | A type of ALS with juvenile onset caused_by mutation located_in senataxin gene (SETX) located_in chromosome 9. |
| Spermatogenic failure 9 | |
| Male infertility due to globozoospermia | |
| Syndromic X-linked intellectual disability | |
| 3-methylglutaconic aciduria | |
| alcohol-related birth defects | |
| Mucolipidosis type IV | |
| Mucopolysaccharidosis type IVB | |
| Prion disease | A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83) |
| Neuropathy | A nervous system disease that is located in the nervous system. |
| Hypolipoproteinemia | |
| Immunodeficiency 40 | |
| Ichthyosis | An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. |
| Otitis media | A otitis which involves inflammation of the middle ear. |
| Benign paroxysmal positional vertigo | |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | |
| Middle ear disease | |
| Syndromic intellectual disability | An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms. |
| obsessive-compulsive disorder | An anxiety disorder characterized by recurrent, persistent obsessions or compulsions. Obsessions are the intrusive ideas, thoughts, or images that are experienced as senseless or repugnant. Compulsions are repetitive and seemingly purposeful behavior which the individual generally recognizes as senseless and from which the individual does not derive pleasure although it may provide a release from tension. |
| Cystinosis | |
| Electroclinical syndrome | An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. |
| Mood disorder | A cognitive disorder that involves an excessive, irrational dread of everyday situations. |
| Cholesteatoma of middle ear | |
| Autosomal dominant polycystic kidney disease | |
| Chromosomal disease | A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes. |
| Major depressive disorder | An endogenous depression that is characterized by an all-encompassing low mood accompanied by low self-esteem, and by loss of interest or pleasure in normally enjoyable activities. |
| Vaccinia | A viral infectious disease that results_in infection, located_in skin, has_material_basis_in Vaccinia virus, which is used as a live vaccine against smallpox. The virus is transmitted_by contact with the vaccination site before it has healed, or transmitted_by fomites that have been contaminated with live virus from the vaccination site. The infection has_symptom rash, has_symptom fever, and has_symptom body aches. |
| Polycystic kidney disease 2 | |
| early-onset Parkinson's disease | |
| Tetanus | A primary bacterial infectious disease that results_in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli. |
| Frozen shoulder | |
| X-linked recessive disease | |
| Angelman syndrome | OMIM mapping confirmed by DO. [SN]. |
| Krabbe disease | OMIM mapping confirmed by DO. [SN]. |
| Depressive disorder | |
| Wolfram syndrome | A genetic disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding wolframin (WFS1). |
| Organic acidemia | An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids. |
| Chromoblastomycosis | A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection. |
| Galactosialidosis | |
| Osmotic diarrhea | Osmotic diarrhea is a dirrhea where diarrhea occurs when too much water is drawn into the bowels. This can be the result of maldigestion (e.g., pancreatic disease or Coeliac disease), in which the nutrients are left in the lumen to pull in water. Osmotic diarrhea can also be caused by osmotic laxatives (which work to alleviate constipation by drawing water into the bowels). In healthy individuals, too much magnesium or vitamin C or undigested lactose can produce osmotic diarrhea and distention of the bowel. A person who does not have lactose intolerance can have difficulty absorbing lactose after an extraordinarily high intake of dairy products. |
| Spermatogenic failure | |
| Choriocarcinoma | An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected. |
| Placenta cancer | |
| X-linked dominant disease | |
| Polydactyly | |
| Myopathy | A muscular disease in which the muscle fibers do not function resulting in muscular weakness. |
| Mastoiditis | A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process. |
| Parkinsonism | Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. |
| Autosomal recessive hypercholesterolemia | |
| Acromegaly | A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb. |
| Muscle tissue disease | |
| Autoimmune interstitial lung, joint, and kidney disease | |
| Hyperpituitarism | |
| Warburg micro syndrome | An autosomal recessive disease characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism. |
| Ureteropelvic junction obstruction | Blockage of urine flow from the renal pelvis to the proximal ureter. |
| Malignant exocrine pancreas neoplasm | |
| Pancreatic carcinoma | A carcinoma that is manifested in cells found in the tissues of the pancreas.|Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA).|A carcinoma that is located_in cells found in the tissues of the pancreas. |
| Immunodeficiency with hyper-IgM type 2 | |
| Subcutaneous mycosis | A fungal infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Fungi, which penetrate the dermis or even deeper during or after a skin trauma. |
| post-traumatic stress disorder | A class of traumatic stress disorders with symptoms that last more than one month. There are various forms of post-traumatic stress disorder, depending on the time of onset and the duration of these stress symptoms. In the acute form, the duration of the symptoms is between 1 to 3 months. In the chronic form, symptoms last more than 3 months. With delayed onset, symptoms develop more than 6 months after the traumatic event.|A class of traumatic stress disorders with symptoms that last more than one month. There are various forms of post-traumatic stress disorder, depending on the time of onset and the duration of these stress symptoms. In the acute form, the duration of the symptoms is between 1 to 3 months. In the chronic form, symptoms last more than 3 months. With delayed onset, symptoms develop more than 6 months after the traumatic event (MeSH).|An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term.|An anxiety disease which results from a traumatic experience that results in psychological trauma. |
| Anxiety disorder | A cognitive disorder that involves an excessive, irrational dread of everyday situations. |
| Hypospadias | A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum. |
| glucocorticoid-remediable aldosteronism | OMIM mapping confirmed by DO. [SN]. |
| Androgen insensitivity syndrome | A testicular disease and hermaphroditism that is characterized by the partial or complete inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup. |
| Sulfhemoglobinemia | |
| Infertility | Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility. |
| Skin atrophy | |
| Adrenal gland hyperfunction | |
| Primary hyperaldosteronism | |
| Adrenal gland disease | An endocrine system disease that is located_in the adrenal gland. |
| Disorder of sexual development | |
| Leukemia | A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.|A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)|A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years. |
| Bipolar disorder | A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence.|A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence (MeSH). |
| Partial androgen insensitivity syndrome | |
| Facial paralysis | |
| Asthma | A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways.|Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory.|A form of bronchial disorder with three distinct components: airway hyper-responsiveness (RESPIRATORY HYPERSENSITIVITY), airway INFLAMMATION, and intermittent AIRWAY OBSTRUCTION. It is characterized by spasmodic contraction of airway smooth muscle, WHEEZING, and dyspnea (DYSPNEA, PAROXYSMAL).|A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, excercise, stress, reflux disease, medications, foods and emotional anxiety. |
| Toxic encephalopathy | |
| Bronchial disease | A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage. |
| Facial nerve disease | |
| Lymphatic system cancer | An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue. |
| Immune system cancer | An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system. |
| Lymphatic system disease | An immune system disease that is located_in the lymphatic system. |
| Lymphoma | A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas.|A cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.|A general term for various neoplastic diseases of the lymphoid tissue.|Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease. |
| Artery disease | A vascular disease that is located_in an artery. |
| Myeloid neoplasm | |
| Bone marrow disease | |
| Autoimmune disease of musculoskeletal system | |
| Leber hereditary optic neuropathy and dystonia | |
| Bone marrow cancer | A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow. |
| Acute leukemia | A leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity. These lymphocytes (acute lymphocytic leukemia [ALL]) or myeloid cells (acute myelocytic leukemia [AML]) proliferate abnormally, replacing normal marrow tissue and hematopoietic cells and inducing anemia, thrombocytopenia, and granulocytopenia. |
| Acute lymphoblastic leukemia | When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term.|Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia.|A neoplasm characterized by abnormalities of the lymphoid cell precursors leading to excessive lymphoblasts in the marrow and other organs. It is the most common cancer in children and accounts for the vast majority of all childhood leukemias.|A leukemia/lymphoma found predominately in children and adolescents and characterized by a high number of lymphoblasts and solid tumor lesions. Frequent sites involve LYMPH NODES, skin, and bones. It most commonly presents as leukemia.|Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the precursor B lymphoblastic leukemia and precursor T lymphoblastic leukemia. |
| Hypertension | Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more. |
| Pick's disease | OMIM mapping confirmed by DO. [SN]. |
| Rheumatoid arthritis | An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint. |
| Lymphoid leukemia | |
| Progressive supranuclear palsy | A movement disease characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain. |
| Bone inflammation disease | A bone disease that results_in inflammation of the located_in bone. |
| Arthritis | Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints. |
| Huntington's disease | A neurodegenerative disease and an autosomal dominant disease that is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities. |
| Childhood acute lymphocytic leukemia | |
| Organ system benign neoplasm | A benign neoplasm that is classified by the organ system from which it is arising from. |
| Psychotic disorder | A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality. |
| Hyperglycemia | |
| Schizophrenia | A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality.|A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior. |
| Benign neoplasm | A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize. |
| Childhood endodermal sinus tumor | An endodermal sinus tumor that occurs in children. |
| Ovarian dysfunction | |
| Ischemia | A hypoperfusion of the BLOOD through an organ or tissue caused by a PATHOLOGIC CONSTRICTION or obstruction of its BLOOD VESSELS, or an absence of BLOOD CIRCULATION. |
| Leber plus disease | |
| Polycystic ovary syndrome | A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading. |
| Multiple myeloma | A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)|A myeloma that is located_in the plasma cells in bone marrow.|A malignancy of mature PLASMA CELLS engaging in monoclonal immunoglobulin production. It is characterized by hyperglobulinemia, excess Bence-Jones proteins (free monoclonal IMMUNOGLOBULIN LIGHT CHAINS) in the urine, skeletal destruction, bone pain, and fractures. Other features include ANEMIA; HYPERCALCEMIA; and RENAL INSUFFICIENCY. |
| Leukocyte disease | |
| non-Hodgkin lymphoma | A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma. |
| Cerebrovascular disease | An artery disease that is characterized by dysfunction of the blood vessels supplying the brain. |
| Kennedy's disease | |
| substance-related disorder | A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning. |
| Urinary bladder cancer | An urinary system cancer that results_in malignant growth located_in the urinary bladder. |
| Bladder disease | A urinary system disease that is located_in the bladder. |
| Myelofibrosis | A myeloma that is located_in the bone marrow which results_in bone marrow being replaced by fibrous (scar) tissue. |
| Bruck syndrome | |
| Glucose intolerance | |
| Muscular atrophy | |
| Multicentric reticulohistiocytosis | A rare systemic granulomatous syndrome characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis. |
| Endometrial carcinoma | A endometrial cancer that is located_in the tissue lining the uterus. |
| Glomangioma | |
| Neuroma | A nervous system benign neoplasm that is characterized as a nerve tissue tumor. |
| Addison's disease | An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands. |
| Cell type benign neoplasm | A benign neoplasm that is classified by the type of cell or tissue from which it is derived. |
| B-cell lymphoma | A non-Hodgkin lymphoma that has_material_basis_in B cells. |
| Cystic fibrosis | An autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs. |
| Benign perivascular tumor | |
| Hyperandrogenism | |
| Endometrial adenocarcinoma | An endometrial carcinoma that derives_from epithelial cells of glandular origin. |
| Leber congenital amaurosis | A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. |
| Cholesteatoma | |
| Adrenal cortical hypofunction | |
| Leber congenital amaurosis 4 | |
| Amelogenesis imperfecta type 1G | |
| Substance abuse | A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning. |
| Myeloid leukemia | A leukemia that is located_in myeloid tissue. |
| Coronary artery disease | Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE).|Pathological processes of CORONARY ARTERIES that may derive from a congenital abnormality, atherosclerotic, or non-atherosclerotic cause.|Narrowing of the coronary arteries due to fatty deposits inside the arterial walls.|An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels. |
| Acoustic neuroma | |
| Neurilemmoma | |
| Amelogenesis imperfecta | A dental enamel hypoplasia characterized by abnormal enamel formation. |
| Dental enamel hypoplasia | |
| Allergic disease | disease cluster belonging to disease group immune |
| Glaucoma | An ocular disease, occurring in many forms, having as its primary characteristics an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. The consequences of the increased pressure may be manifested in a variety of symptoms, depending upon type and severity, such as excavation of the optic disk, hardness of the eyeball, corneal anesthesia, reduced visual acuity, seeing of colored halos around lights, disturbed dark adaptation, visual field defects, and headaches. (Dictionary of Visual Science, 4th ed)|Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor. |
| Cranial nerve disease | A neuropathy that is located_in one of the twelve cranial nerves. |
| Inflammatory bowel disease | An intestinal disease characterized by inflammation located_in all parts of digestive tract. |
| Demyelinating disease | |
| Male infertility | |
| Steatotic liver disease | |
| Acute stress disorder | An anxiety disorder that has_symptom flashbacks, has_symptom bad dreams, has_symptom frightening thoughts, has_symptom avoidance or has_symptom hyperarousal of PTSD occurring within one month of a traumatic experience as Acute Stress Disorder or ASD. |
| Colorectal carcinoma | disease cluster belonging to disease group cancer |
| Anemia | A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin. |
| Autoimmune disease of the nervous system | |
| Multiple sclerosis | A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring. |
| Lupus erythematosus | |
| Teeth hard tissue disease | |
| Oral squamous cell carcinoma | An oral cavity cancer that has_material_basis_in squamous cells. |
| Alpha thalassemia | Alpha thalassemia is a thalassemia involving the genes HBA1and HBA2 hemoglobin genes. |
| Autoimmune disease of central nervous system | An autoimmune disease of the central nervous system. |
| Chronic obstructive pulmonary disease | A group of disorders affecting the bronchi and the lung parenchyma. It is characterized by chronic and irreversible obstruction of the airflow. It includes chronic bronchitis and pulmonary emphysema.|A disease of chronic diffuse irreversible airflow obstruction. Subcategories of COPD include CHRONIC BRONCHITIS and PULMONARY EMPHYSEMA.|A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema. |
| Spinal muscular atrophy | A motor neuron disease that is a degenerative neuromuscular disease characterized by motor neuron degeration. |
| Obstructive lung disease | |
| Acute myeloid leukemia | Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES. |
| Ovary epithelial cancer | An ovarian cancer that is derived_from ovarian surface epithelium. |
| Hyperinsulinism | |
| Breast carcinoma in situ | |
| Colorectal adenocarcinoma | A malignant tumor usually arising from the epithelium lining the large intestinal mucosa. Colon carcinoma is one of the most common malignancies in both males and females, and is especially common in North America and Europe. Grossly, most colon carcinomas are polypoid or ulcerating lesions. Microscopically, adenocarcinoma is the most frequently seen morphologic subtype. Prognosis depends on the stage of the disease (depth of invasion, metastasis to regional/distal lymph nodes or other anatomic sites). -- 2004|An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well differentiated, moderately, and poorly differentiated. Morphologic variants include the mucinous adenocarcinoma and signet-ring adenocarcinoma. Lymphatic or hematogenous spread can occur early in the process and lead to systemic disease.|Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI. |
| Contact dermatitis | |
| Hemoglobinopathy | |
| Dermatitis | A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin. |
| Tooth disease | |
| Oral cavity cancer | A gastrointestinal system cancer that is located_in the oral cavity. |
| Fetal alcohol spectrum disorder | A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy. |
| In situ carcinoma | A carcinoma that is an early development defined by the absence of invasion of surrounding tissues. |
| Lipid metabolism disorder | An inherited metabolic disorder that involves the creation and degradation of lipids. |
| Nervous system benign neoplasm | An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system. |
| Esophageal disease | A gastrointestinal system disease that is located_in the esophagus. |
| Atopic dermatitis | A dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking. |
| Personality disorder | A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work. |
| Thalassemia | OMIM mapping confirmed by DO. [LS]. |
| Myocardial infarction | Xref MGI. |
| pre-malignant neoplasm | A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer. |
| Autosomal dominant cerebellar ataxia | |
| Allergic contact dermatitis | A contact dermititis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign. |
| Cryptorchidism | Cryptorchidism (derived from the Greek κρυπτός, kryptos, meaning hidden and ὄρχις, orchis, meaning testicle) is the absence of one or both testes from the scrotum. It is the most common birth defect regarding male genitalia. In unique cases, cryptorchidism can develop later in life, often as late as young adulthood. About 3% of full-term and 30% of premature infant boys are born with at least one undescended testis. However, about 80% of cryptorchid testes descend by the first year of life (the majority within three months), making the true incidence of cryptorchidism around 1% overall. Cryptorchidism is distinct from monorchism the condition of having only one testicle. |
| Hemophilia B | An inherited blood coagulation disease that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait. |
| Gynecomastia | |
| Nephrotic syndrome | Xref MGI. |
| Melancholic depression | |
| Substance dependence | A substance-related disorder that involves the continued use of alcohol or other drugs despite despite problems related to use of the substance. |
| Connective tissue cancer | A musculoskeletal system cancer that is located_in connective tissue. |
| Bell's palsy | A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve). |
| Nephrosis | |
| Atherosclerosis | A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA. |
| Arteriosclerotic cardiovascular disease | |
| Adrenal cortex disease | |
| Arteriosclerosis | An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries. |
| Cerebellar ataxia | A cerebellar disease characterized by ataxia originating in the cerebellum. |
| Epilepsy | A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.|A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy) (MeSH).|A disorder characterized by recurrent seizures |
| Commensal bacterial infectious disease | A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder. |
| Congenital hemolytic anemia | |
| Diabetic neuropathy | |
| Endometrial disease | |
| Hereditary ataxia | |
| Uterine benign neoplasm | |
| Anovulation | |
| Alcohol dependence | A primary, chronic disease with genetic, psychosocial, and environmental factors influencing its development and manifestations. The disease is often progressive and fatal. It is characterized by impaired control over drinking, preoccupation with the drug alcohol, use of alcohol despite adverse consequences, and distortions in thinking, most notably denial. Each of these symptoms may be continuous or periodic. (Morse & Flavin for the Joint Commission of the National Council on Alcoholism and Drug Dependence and the American Society of Addiction Medicine to Study the Definition and Criteria for the Diagnosis of Alcoholism: in JAMA 1992;268:1012-4)|Disorders related to or resulting from abuse or mis-use of alcohol. |
| Cerebellar disease | |
| Female reproductive organ benign neoplasm | |
| Pervasive developmental disorder | A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors. |
| Psoriasis | A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis. |
| Parasitic infectious disease | A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host. |
| pre-eclampsia | A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy. |
| Reproductive organ benign neoplasm | An organ system benign neoplasm that is located_in reproductive system organs. |
| Endocrine organ benign neoplasm | An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. |
| Prostate adenocarcinoma | A prostate carcinoma that derives_from epithelial cells of glandular origin. |
| Esophageal cancer | A gastrointestinal system cancer that is located_in the esophagus. |
| Blindness | |
| Panic disorder | An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress. |
| Communication disorder | A specific developmental disorder that involves specific developmental disorders of speech and language. |
| Borderline personality disorder | A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods. |
| Microcytic anemia | OMIM mapping confirmed by DO. [SN]. |
| Colitis | Inflammation of the COLON section of the large intestine (INTESTINE, LARGE), usually with symptoms such as DIARRHEA (often with blood and mucus), ABDOMINAL PAIN, and FEVER. |
| Ductal carcinoma in situ | |
| Respiratory failure | A lung disease characterized by inadequate gas exchange by the respiratory system. |
| Pertussis | A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). |
| Brain ischemia | |
| Parasitic protozoa infectious disease | A parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes. |
| Autoimmune disease of skin and connective tissue | A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue. |
| Agnosia | A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss. |
| Traumatic brain injury | |
| Ocular hypertension | |
| Azoospermia | A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen. |
| Bone cancer | A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue. |
| Ovarian carcinoma | Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS. |
| Retinal cancer | |
| Malignant ovarian surface epithelial-stromal neoplasm | |
| Ulcerative colitis | A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores. |
| Systemic lupus erythematosus | A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. |
| Autism spectrum disorder | A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior. |
| Machado-Joseph disease | A spinocerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene. |
| Mild cognitive impairment | disease cluster belonging to disease group neurological |
| Keratoconjunctivitis | |
| Cardiovascular organ benign neoplasm | An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system. |
| Hemolytic anemia | A type of anemia caused by premature destruction of red blood cells (hemolysis). |
| Pituitary adenoma | |
| Pituitary gland benign neoplasm | |
| Microphthalmia with limb anomalies | Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly. |
| Chronic lymphocytic leukemia | A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease. |
| Pain agnosia | An agnosia that is a loss of the ability to perceive and process pain. |
| Primary open angle glaucoma | OMIM mapping confirmed by DO. [SN]. |
| T-cell non-Hodgkin lymphoma | |
| Autoimmune disease of gastrointestinal tract | A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract. |
| Adenoma | A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract.|A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract. |
| ACTH-secreting pituitary adenoma | A functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome. |
| Normocytic anemia | |
| Cataract | Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)|Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)|Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed) |
| Lens disease | |
| Diphtheria | A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys. |
| Methemoglobinemia | |
| Placenta accreta | A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium. |
| Thyroid gland disease | An endocrine system disease that is located_in the thyroid. |
| Bone sarcoma | |
| Osteonecrosis | Death of a bone or part of a bone, either atraumatic or posttraumatic. |
| Human immunodeficiency virus infectious disease | A viral infectious disease that results_in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has_symptom diarrhea, has_symptom fatigue, has_symptom fever, has_symptom vaginal yeast infection, has_symptom headache, has_symptom mouth sores, has_symptom muscle aches, has_symptom sore throat, and has_symptom swollen lymph glands. |
| Endometrial hyperplasia | |
| Alcohol use disorder | |
| Myeloproliferative neoplasm | |
| Generalized anxiety disorder | An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation. |
| Muscular dystrophy | A myopathy is characterized by progressive skeletal muscle weakness degeneration. |
| Keratosis | |
| Tuberous sclerosis | OMIM mapping confirmed by DO. [LS]. |
| Malaria | A protozoan disease caused in humans by four species of the PLASMODIUM genus: PLASMODIUM FALCIPARUM; PLASMODIUM VIVAX; PLASMODIUM OVALE; and PLASMODIUM MALARIAE; and transmitted by the bite of an infected female mosquito of the genus ANOPHELES. Malaria is endemic in parts of Asia, Africa, Central and South America, Oceania, and certain Caribbean islands. It is characterized by extreme exhaustion associated with paroxysms of high FEVER; SWEATING; shaking CHILLS; and ANEMIA. Malaria in ANIMALS is caused by other species of plasmodia.|Malaria is a parasitic disease characterized as a vector-borne arthropod infectious acute or chronic disease caused by the presence of sporozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. Occurrance is widespread in tropical and subtropical regions, including parts of the Americas, Asia, and Africa.|A protozoan infection caused by the genus Plasmodium. There are four species of Plasmodium that can infect humans: Plasmodium falciparum, vivax, ovale, and malariae. It is transmitted to humans by infected mosquitoes. Signs and symptoms include paroxysmal high fever, sweating, chills, and anemia.|An Aconoidasida infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. |
| Retinoblastoma | A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina. |
| Retinal cell cancer | A malignant neoplasm that derives_from the retina. |
| Ischemic bone disease | A bone disease that results_in an interruption of blood supply located_in bone. |
| Sleep disorder | A disease of mental health that involves disruption of sleep patterns. |
| Testicular cancer | A male reproductive system cancer that is located_in the testicles. |
| open-angle glaucoma | A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage. |
| Spinal cord neuroblastoma | |
| Head and neck squamous cell carcinoma | A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands.|A carcinoma of any tissue within the head and neck region. |
| Colon carcinoma | A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| Encephalomyelitis | A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature. |
| Colon adenocarcinoma | A colon carcinoma that derives_from epithelial cells of glandular origin. |
| Dissociative disorder | A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated). |
| Hyperlipoproteinemia type IV | OMIM mapping confirmed by DO. [SN]. |
| Testicular disease | |
| Pituitary gland disease | An endocrine system disease that is located_in the pituitary gland. |
| Proteinuria | |
| Hodgkin's lymphoma | A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell. |
| Eosinophilic esophagitis | An esophagitis characterized by inflammation involving eosinophils located_in esophagus. |
| Fragile X syndrome | A neurodegenerative disease that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in a loss of FMR1 function. |
| Kidney failure | A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood. |
| Head and neck carcinoma | |
| Biliary tract cancer | A gastrointestinal system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct. |
| Gallbladder disease | A gastrointestinal system disease that is located_in the gallbladder. |
| Auditory system disease | |
| Blood coagulation disease | |
| Hypoglycemia | |
| Heart conduction disease | A cardiovascular system disease that involves the heart's electrical conduction system. |
| Beta thalassemia | A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin. |
| Blood protein disease | |
| Down syndrome | A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. |
| Chromosomal duplication syndrome | |
| Skull base meningioma | |
| Schizoaffective disorder | A psychotic disorder that is characterized by recurring episodes of mood fluctuations and a loss of contact with reality. |
| Pancreatic adenocarcinoma | |
| T-cell acute lymphoblastic leukemia | Aggressive T-Cell malignancy with adult onset, caused by HUMAN T-LYMPHOTROPIC VIRUS 1. It is endemic in Japan, the Caribbean basin, Southeastern United States, Hawaii, and parts of Central and South America and sub-Saharan Africa.|This type of acute lymphoblastic leukemia comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001)|Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001) |
| Cardiomyopathy | A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).|A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. |
| Bile duct disease | |
| Cervix carcinoma | A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| Atrial fibrillation | A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain. |
| Biliary tract disease | |
| Mantle cell lymphoma | A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles. |
| Lung squamous cell carcinoma | A non-small cell lung carcinoma that has_material_basis_in the squamous cell. |
| Skull cancer | |
| Skull base cancer | |
| Spinal cord primitive neuroectodermal neoplasm | |
| Anaplastic large cell lymphoma | A non-Hodgkin lymphoma involving aberrant T-cells. |
| Collagen disease | |
| Adult respiratory distress syndrome | A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia. |
| Intrinsic cardiomyopathy | A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause. |
| Chronic myeloid leukemia | A myeloid leukemia that is characterized by over production of white blood cells. |
| steroid-induced glaucoma | |
| Ovarian serous carcinoma | |
| Complete androgen insensitivity syndrome | |
| Endometritis | |
| Leiomyoma | A cell type benign neoplasm that is a benign tumor of smooth muscle cells. |
| Congestive heart failure | Heart failure caused by dysfunction of the MYOCARDIUM, leading to defective cardiac emptying (contraction) or filling (relaxation).|Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales.|Heart failure involving the LEFT VENTRICLE.|Heart failure involving the RIGHT VENTRICLE.|A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION.|1. inadequacy of the heart so that as a pump it fails to maintain the circulation of blood, with the result that congestion and edema develop in the tissues; SEE ALSO forward heart failure, backward heart failure, right ventricular failure, left ventricular failure. SYN cardiac failure, cardiac insufficiency, congestive heart failure, myocardial insufficiency. 2. resulting clinical syndromes including shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales in various combinations.|Heart failure accompanied by EDEMA, such as swelling of the legs and ankles and congestion in the lungs. |
| Nephritis | |
| Placenta disease | A uterine disease that is located_in the placenta. |
| Menkes disease | OMIM mapping confirmed by DO. [SN]. |
| Acquired immunodeficiency syndrome | A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per µL of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS. |
| Autistic disorder | An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years. |
| Imperforate anus | OMIM mapping confirmed by DO. [SN]. |
| pituitary-dependent Cushing's disease | |
| Amyloidosis | An acquired metabolic disease that involves abnormal deposited of amyloid proteins in organs and/or tissues. |
| Respiratory allergy | |
| Postpartum depression | |
| Thyroid cancer | An endocrine gland cancer located_in the thryoid gland located in the neck below the thyroid cartilage. |
| Perivascular epithelioid cell tumor | |
| Louping ill | A viral infectious disease that results_in infection in sheep and rarely humans, has_material_basis_in Louping ill virus, which is transmitted_by sheep tick, Ixodes ricinus. The infection has_symptom lethargy, has_symptom muscle pains, has_symptom fever, and has_symptom focal neurological signs. |
| Influenza | A viral infectious disease that results_in infection, located_in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness. |
| Large B-cell lymphoma | |
| Uterine fibroid | A benign tumor derived from smooth muscle tissue, also known as a fibroid tumor. They rarely occur outside of the UTERUS and the GASTROINTESTINAL TRACT but can occur in the SKIN and SUBCUTANEOUS TISSUE, probably arising from the smooth muscle of small blood vessels in these tissues.|A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.|An uncommon benign neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain. |
| Congenital adrenal hyperplasia | A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency. |
| Duchenne muscular dystrophy | A muscular dystrophy that has_material_basis_in X-linked disease caused by mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy. |
| Adult T-cell leukemia/lymphoma | |
| Cardiac arrest | A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all. |
| Chronic kidney disease | Conditions in which the KIDNEYS perform below the normal level for more than three months. Chronic kidney insufficiency is classified by five stages according to the decline in GLOMERULAR FILTRATION RATE and the degree of kidney damage (as measured by the level of PROTEINURIA). The most severe form is the end-stage renal disease (CHRONIC KIDNEY FAILURE). (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002)|The end-stage of CHRONIC RENAL INSUFFICIENCY. It is characterized by the severe irreversible kidney damage (as measured by the level of PROTEINURIA) and the reduction in GLOMERULAR FILTRATION RATE to less than 15 ml per min (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002). These patients generally require HEMODIALYSIS or KIDNEY TRANSPLANTATION. |
| Meningioma | A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges. |
| Crohn's disease | An intestinal disease that involves inflammation located_in intestine. |
| Phimosis | |
| Diarrhea | A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea. |
| Esophagitis | |
| Mycobacterium avium complex disease | A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons. |
| Steroid inherited metabolic disorder | A lipid metabolism disorder that involves defects in steroid metabolism. |
| Dilated cardiomyopathy | An intrinsic cardiomyopathy that results in damage to the myocardium causing the heart to pump blood inefficiently.|A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein.|decreased function of the heart associated with cardiac enlargement and congestive heart failure |
| Pulmonary embolism and infarction | |
| Diffuse idiopathic skeletal hyperostosis | A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine. |
| Conjunctival disease | |
| Chronic asthma | |
| Refsum disease | OMIM mapping confirmed by DO. [SN]. |
| Functioning pituitary adenoma | |
| Diffuse large B-cell lymphoma | Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation.|A non-Hodgkin lymphoma characterized by a diffuse proliferation of predominantly large neoplastic B lymphocytes. It is the most frequently seen type of non-Hodgkin lymphoma, representing 30%-40% of the cases. Morphologic variants include centroblastic lymphoma, immunoblastic lymphoma, and anaplastic lymphoma. Subtypes/entities include T-cell/histiocyte rich large B-cell lymphoma, primary diffuse large B-cell lymphoma of the central nervous system, plasmablastic lymphoma, primary cutaneous diffuse large B-cell lymphoma, leg type, and ALK-positive large B-cell lymphoma. |
| Hypogonadism | A gonadal disease that is characterized by diminished functional activity of the gonads. |
| Bladder carcinoma | A carcinoma that forms in tissues of the bladder.|Bladder carcinoma is a carcinoma arising from the bladder epithelium. Approximately 90% of the bladder carcinomas are transitional cell carcinomas. The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas.|A carcinoma that arises_from tissues of the bladder.|A carcinoma arising from the bladder epithelium. Approximately 90% of the bladder carcinomas are transitional cell carcinomas. The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas. |
| Pelvic inflammatory disease | |
| Metabolic dysfunction-associated steatotic liver disease | |
| Gallbladder cancer | A biliary tract cancer that is located_in the gallbladder. |
| Endometriosis of ovary | |
| Endometriosis of uterus | OMIM mapping confirmed by DO. [SN]. |
| Acute monocytic leukemia | OMIM mapping confirmed by DO. [SN]. |
| Thrombosis | formation within a tissue or the vascular lumen of a thrombus, an aggregation of coagulated blood containing platelets, fibrin, and entrapped cellular elements |
| Diabetic retinopathy | Disease of the RETINA as a complication of DIABETES MELLITUS. It is characterized by the progressive microvascular complications, such as ANEURYSM, interretinal EDEMA, and intraocular PATHOLOGIC NEOVASCULARIZATION. |
| Acute promyelocytic leukemia | An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate. It is characterized by the t(15;17)(q22;q12) translocation. There are two variants: the typical and micro granular (hypo granular) variant. This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis. (WHO, 2001) -- 2003|An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate. It is characterized by the t(15;17)(q22;q12) translocation. There are two variants: the typical and microgranular variant. This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis. (WHO, 2001) |
| Peripheral T-cell lymphoma | A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus. |
| glucocorticoid-induced osteoporosis | |
| Mature T-cell and NK-cell lymphoma | A non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells. |
| Neuritis | |
| Pituitary cancer | An endocrine gland cancer located_in the pituitary gland located at the base of the brain. |
| Bile duct cancer | A biliary tract cancer that is located_in the bile duct. |
| Withdrawal disorder | A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol. |
| Autosomal dominant pseudohypoaldosteronism type 1 | |
| Mixed glioma | |
| Seminoma | A germinoma that has_material_basis_in cells that make sperm and eggs. |
| Musculoskeletal system benign neoplasm | An organ system benign neoplasm that is located_in the muscular and skeletal organs. |
| Atypical depressive disorder | A mood disorder that is characterized by mood reactivity (paradoxical anhedonia) and positivity, significant weight gain or increased appetite (comfort eating), excessive sleep or somnolence (hypersomnia), a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection. |
| Pneumonia | A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing. |
| Chronic traumatic encephalopathy | |
| Encephalitis | Encephalitis is a nervous system infectious disease characterized as an acute inflammation of the brain. The usual cause is a viral infection, but bacteria can also cause it. Cases can range from mild to severe. For mild cases, you could have flu-like symptoms. Serious cases can cause severe headache, sudden fever, drowsiness, vomiting, confusion and seizures. |
| Long COVID | |
| Inner ear disease | |
| Ornithine carbamoyltransferase deficiency | An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase. |
| Allergic conjunctivitis | A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant. |
| Bulimia nervosa | An eating disorder that is characterized by a cycle of binge eating (BULIMIA or bingeing) followed by inappropriate acts (purging) to avert weight gain. Purging methods often include self-induced VOMITING, use of LAXATIVES or DIURETICS, excessive exercise, and FASTING. |
| Prediabetes syndrome | |
| Merkel cell carcinoma | |
| Craniosynostosis | A synostosis that results_in premature fusion located_in skull. |
| Hypervitaminosis A | |
| Synostosis | A dysostosis that results_in abnormal fusing of adjacent bones. |
| Dysostosis | A bone development disease that results_in defective ossification of located_in bone. |
| Antley-Bixler syndrome | An autosomal recessive disease that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene. |
| Orofacial cleft | |
| Spina bifida | |
| Cleft palate | An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate. |
| Neural tube defect | |
| Gonadal dysgenesis | A hypogonadism that is characterized by a progressive loss of germ cells on the developing gonads of an embryo. |
| Acne | A chronic disorder of the pilosebaceous apparatus associated with an increase in sebum secretion. It is characterized by open comedones (blackheads), closed comedones (whiteheads), and pustular nodules. The cause is unknown, but heredity and age are predisposing factors. |
| Sebaceous gland disease | A skin disease that is located_in the sebaceous gland. |
| Osteochondrodysplasia | A bone development disease that results_in defective development of cartilage or bone. |
| Congenital heart disease | OMIM mapping confirmed by DO. [SN]. |
| Germ cell cancer | A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from germ cells. |
| Ovarian dysgenesis 2 | |
| Acrocephalosyndactylia | A synostosis that results_in craniosynostosis and syndactyly. |
| Myelomeningocele | A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes. |
| DiGeorge syndrome | A T cell deficiency disease that is the result of a large deletion of chromosome 22 which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production. |
| Embryonal carcinoma | An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes. |
| Embryonal cancer | A germ cell cancer that is associated with an embryo. |
| 46 XX gonadal dysgenesis | |
| Pfeiffer syndrome | An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. |
| Congenital diaphragmatic hernia | A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. |
| Diaphragm disease | A muscular disease that is located_in the diaphragm. |
| Cleft lip | |
| Radioulnar synostosis | OMIM mapping confirmed by DO. [SN]. |
| Anencephaly | |
| Hermaphroditism | |
| Chromosomal deletion syndrome | |
| Spina bifida occulta | The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin. |
| Spermatocytoma | |
| Bardet-Biedl syndrome 9 | |
| Microphthalmia | |
| Fetal alcohol syndrome | A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction. |
| Fibular hypoplasia and complex brachydactyly | An autosomal recessive disease that is characterised by severe reduction or absence of the fibula and complex brachydactyly. |
| Bilateral optic nerve hypoplasia | |
| Campomelic dysplasia | An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur. |
| Renal agenesis | |
| Primary ovarian insufficiency | |
| Cytochrome P450 oxidoreductase deficiency | |
| Leri-Weill dyschondrosteosis | |
| 46,XX sex reversal | |
| Saethre-Chotzen syndrome | An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull. |
| Xerophthalmia | |
| Mullerian aplasia and hyperandrogenism | |
| Night blindness | |
| Goldenhar syndrome | A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch. |
| Axenfeld-Rieger syndrome | An autosomal dominant disease characterized by abnormalities of the front part of the eye, the anterior segment. |
| Congenital disorder of glycosylation Ip | |
| Cannabis dependence | A drug dependence that involves the continued use of cannabis despite problems related to use of the substance. |
| Hallucinogen dependence | A drug dependence that involves the continued use of hallucinogenic drugs despite problems related to use of the substance. |
| Sertoli cell-only syndrome | OMIM mapping confirmed by DO. [SN]. |
| Heart septal defect | |
| Lip disease | |
| Telogen effluvium | |
| Keratomalacia | |
| Spermatogenic failure 23 | |
| Hair disease | An integumentary system disease that is located_in hair. |
| Fuhrmann syndrome | |
| Coloboma | An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc. |
| Alopecia | A hypotrichosis that is characterized by a loss of hair from the head or body. |
| Choanal atresia | OMIM mapping confirmed by DO. [SN]. |
| Hypotrichosis | A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles. |
| Ventricular septal defect | A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles. |
| Age related macular degeneration 10 | |
| Syndactyly | A synostosis that results_in the fusion of two or more digits. |
| Multiple synostoses syndrome | |
| Syndromic microphthalmia 9 | |
| Germ cell and embryonal cancer | A germ cell cancer that is derived_from a mixture of germs cells and embryonal cells. |
| Nezelof syndrome | OMIM mapping confirmed by DO. [SN]. |
| Eyelid disease | An adnexa disease that is located_in the eyelid. |
| Spinal disease | |
| Caudal regression syndrome | |
| Tooth agenesis | A tooth disease characterized by failure to develop on or more missing teeth. |
| Fibrodysplasia ossificans progressiva | .A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene. |
| Klippel-Feil syndrome | A physical disorder that has_material_basis_in abnormal segmentation of the vertebra during fetal development which results_in fusion located_in cervical vertebra. |
| Glioblastoma proneural subtype | |
| Acromesomelic dysplasia | An osteochondrodysplasia that has_material_basis_in mesomelia and acromelia, which results_in short limb Dwarfism. |
| Teratoma | A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers. |
| X-linked ichthyosis | OMIM mapping confirmed by DO. [LS]. |
| Holoprosencephaly | A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies. |
| Atrophy of testis | |
| Isolated microphthalmia | |
| Poland syndrome | OMIM mapping confirmed by DO. [SN]. |
| Blepharophimosis | |
| hypoparathyroidism-deafness-renal disease syndrome | |
| Noonan syndrome 7 | |
| Noonan syndrome 3 | |
| Velocardiofacial syndrome | A chromosomal disease that has_material_basis_in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features. |
| Gonadoblastoma | A cell type benign neoplasm that is composed_of a mixture of gonadal elements. |
| Corneal staphyloma | |
| Oral submucous fibrosis | |
| Scoliosis | An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed) |
| Bone structure disease | A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure. |
| Malignant ovarian germ cell neoplasm | |
| LADD syndrome | An autosomal dominant disease that is characterized by abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes. |
| Anodontia | |
| Noonan syndrome 8 | |
| Retinitis pigmentosa 20 | |
| Tetralogy of Fallot | OMIM mapping confirmed by DO. [LS]. |
| Noonan syndrome 6 | |
| Turner syndrome | No OMIM mapping, confirmed by DO. [LS]. |
| Anterior segment dysgenesis | Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin. |
| 45,X/46,XY mixed gonadal dysgenesis | |
| Dry eye syndrome | |
| Blepharitis | An eyelid disease that is characterized by often chronic inflammation of the eyelid, generally the part where eyelashes grow. |
| Hypoparathyroidism | A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood. |
| Vibratory urticaria | |
| CAKUT | |
| Double outlet right ventricle | OMIM mapping confirmed by DO. [SN]. |
| Muenke Syndrome | |
| Spondyloepimetaphyseal dysplasia | An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis. |
| Freemartinism | |
| Macular degeneration | A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye; symptoms include vision loss. |
| 46,XY sex reversal | |
| Lacrimal apparatus disease | |
| Renal hypoplasia | Hypoplasia of the kidney. |
| Holt-Oram syndrome | Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. |
| Frontonasal dysplasia | |
| Pseudotumor cerebri | OMIM mapping confirmed by DO. [SN]. |
| Alcoholic hepatitis | |
| Noonan syndrome 4 | |
| Asphyxiating thoracic dystrophy 5 | |
| 46,XY sex reversal 2 | |
| Cerebrooculofacioskeletal syndrome 2 | |
| Omodysplasia | |
| Aniridia | OMIM mapping confirmed by DO. [SN]. |
| Keratoacanthoma | |
| Testicular germ cell cancer | A testicular cancer that has_material_basis_in germ cells. |
| Carotenemia | |
| Chromosome 4q21 deletion syndrome | |
| Attention deficit hyperactivity disorder | A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-IV) |
| Ovarian germ cell cancer | An ovarian cancer that originates in the germ (egg) cells of the ovary. |
| Peters anomaly | A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity. |
| Iris disease | |
| Klinefelter syndrome | |
| Cleidocranial dysplasia | An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull. |
| Hereditary spastic paraplegia 2 | |
| ulnar-mammary syndrome | |
| Nose disease | |
| Liver cirrhosis | |
| Gestational diabetes | |
| Hypogonadotropic hypogonadism | |
| Pseudohermaphroditism | |
| Amenorrhea | |
| Nasal cavity disease | |
| Alopecia areata | A hypersensitivity reaction type II disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots. |
| Hemochromatosis type 2 | Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin. |
| Hypothyroidism | A deficiency of thyroid hormone. |
| Dextrocardia | |
| Actinic keratosis | |
| Primary congenital glaucoma | Xref MGI. |
| maturity-onset diabetes of the young | A genetic disease that has_material_basis_in mutations in the MODY genes disrupting insulin production. |
| Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | |
| Ossification of the posterior longitudinal ligament of spine | |
| Skin carcinoma | A skin cancer that is located_in tissues of the skin and develops from epithelial cells. |
| Atrial heart septal defect | Xref MGI. |
| Degeneration of macula and posterior pole | |
| Syndactyly type 8 | |
| Leydig cell hypoplasia | |
| Hydrocephalus | A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head. |
| Syndactyly type 3 | Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers. |
| Bilateral renal aplasia | |
| Atrioventricular septal defect | A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs. |
| Congenital hypoplastic anemia | |
| lymphedema-distichiasis syndrome | |
| Kyphosis | Exaggerated anterior convexity of the thoracic vertebral column. |
| Spinal cord disease | |
| Age related macular degeneration | A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision. |
| Hyperostosis | A bone remodeling disease that results in an abnormal growth of located_in bone. |
| Congenital aphakia | OMIM mapping confirmed by DO. [SN]. |
| Cheilitis | A lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa. |
| Basal cell carcinoma | A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471). |
| Learning disability | A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information. |
| Syndromic microphthalmia | |
| Lymphedema | |
| Sertoli-Leydig cell tumor | |
| Myopia | A refractive error in which rays of light entering the EYE parallel to the optic axis are brought to a focus in front of the RETINA when accommodation (ACCOMMODATION, OCULAR) is relaxed. This results from an overly curved CORNEA or from the eyeball being too long from front to back. It is also called nearsightedness. |
| Kallmann syndrome | OMIM mapping confirmed by DO. [SN]. |
| Brachydactyly type B2 | |
| Retinal vascular disease | |
| Sensorineural hearing loss | OMIM mapping confirmed by DO. [LS]. |
| Brachydactyly | A bone development disease characterized by short fingers and toes. |
| Leber congenital amaurosis 14 | |
| Fanconi anemia | |
| Optic nerve disease | A cranial nerve disease that is located_in the optic nerve. |
| Androgenic alopecia | |
| Aplastic anemia | An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow. |
| Osteoarthritis | A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans. |
| Thyroid sarcoma | A thyroid cancer that is located_in the supporting cells of the thyroid. |
| ADULT syndrome | An autosomal dominant disease that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63. |
| Mucopolysaccharidosis type IIIB | |
| Treacher Collins syndrome | OMIM mapping confirmed by DO. [SN]. |
| Endodermal sinus tumor | A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo. |
| Hyperthyroidism | A thyroid gland disease that involves an over production of thyroid hormone. |
| Coronary artery anomaly | |
| Crouzon syndrome | A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene. |
| Refractive error | |
| Synpolydactyly | |
| Hypertrichosis | |
| Corneal disease | |
| Estrogen excess | |
| Colon lymphoma | |
| Cerebral degeneration | |
| Skin squamous cell carcinoma | A skin carcinoma that has_material_basis_in squamous cells. |
| Juvenile type testicular granulosa cell tumor | |
| Persistent fetal circulation syndrome | OMIM mapping confirmed by DO. [SN]. |
| Photosensitive trichothiodystrophy | OMIM mapping confirmed by DO. [SN]. |
| Familial retinoblastoma | |
| Oculoauricular syndrome | |
| Vaginal disease | |
| Nephroblastoma | A kidney cancer that affects the kidneys and typically located_in children. |
| Inguinal hernia | An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal. |
| Ewing sarcoma | A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms. -- 2004|A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing's sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms.|A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones. There are conspicuous foci of necrosis in association with irregular masses of small, regular, rounded or ovoid cells with very scanty cytoplasm. The tumor occurs usually before the age of 20, about twice as frequently in males as in females. (From Dorland, 27th ed; Stedman, 25th ed)|A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms. |
| Granulosa cell tumor | |
| Otitis interna | A otitis which involves inflammation of the inner ear. |
| Testicular granulosa cell tumor | |
| Food allergy | A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system. |
| Gastrointestinal allergy | |
| Orchitis | |
| Sudden infant death syndrome | Unexpected death in infancy which remains unexplained following autopsy, review of the medical history, and investigation of the death circumstances and death scene. |
| Sex cord-gonadal stromal tumor | A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary and testis. |
| Vitamin D-dependent rickets | |
| Craniofrontonasal syndrome | OMIM mapping confirmed by DO. [SN]. |
| Lafora disease | OMIM mapping confirmed by DO. [SN]. |
| Dysgerminoma | A germ cell cancer that derives_from cells that give rise to egg cells. |
| Acrocapitofemoral dysplasia | OMIM mapping confirmed by DO. [SN]. |
| Teratocarcinoma | A mixed germ cell tumor that is a mixture of teratoma with embryonal carcinoma, or with choriocarcinoma, or with both. |
| Stickler syndrome | OMIM mapping confirmed by DO. [SN]. |
| Fibrosarcoma | |
| Corneal degeneration | |
| Umbilical hernia | A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles. |
| Celiac disease | A food allergy that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.|A malabsorption syndrome that is precipitated by the ingestion of GLUTEN-containing foods, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION.|A food hypersensitivity that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.|A malabsorption syndrome that is precipitated by the ingestion of foods containing GLUTEN, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION. |
| Xeroderma pigmentosum | An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair. |
| Anus disease | |
| X-linked adrenal hypoplasia congenita | |
| Mammary Paget's disease | |
| CHARGE syndrome | A syndrome that is acterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. |
| Hypochromic anemia | |
| Vaginal cancer | A female reproductive system cancer that is located_in the vagina. |
| Leber congenital amaurosis 8 | |
| Breast adenocarcinoma | A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast. |
| Frasier syndrome | OMIM mapping confirmed by DO. [SN]. |
| Primary autosomal recessive microcephaly | |
| Distal arthrogryposis type 2A | |
| Ileitis | An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss. |
| Spondylocostal dysostosis | A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together. |
| Fraser syndrome | |
| Physical urticaria | An urticaria induced by external physical influences. |
| Mayer-Rokitansky-Kuster-Hauser syndrome type 2 | |
| Mayer-Rokitansky-Kuster-Hauser syndrome | |
| Calcaneonavicular coalition | OMIM mapping confirmed by DO. [LS]. |
| Parathyroid gland disease | An endocrine system disease that is located_in the parathyroid gland. |
| Familial hyperinsulinemic hypoglycemia 7 | |
| Ovarian endodermal sinus tumor | |
| Intracranial hypertension | |
| Leigh disease | A mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity. |
| cytochrome-c oxidase deficiency disease | OMIM mapping confirmed by DO. [SN]. |
| Mitochondrial metabolism disease | An inherited metabolic disorder that involves mitochondrial metabolism dysfunction. |
| COX deficiency, infantile mitochondrial myopathy | |
| Degenerative myopia | |
| Kaufman oculocerebrofacial syndrome | |
| Nuclear type mitochondrial complex I deficiency 1 | |
| Anisometropia | |
| Retinal lattice degeneration | |
| Combined D-2- and L-2-hydroxyglutaric aciduria | |
| Gyrate atrophy | OMIM mapping by NeuroDevNet. [LS]. |
| Peripheral retinal degeneration | |
| Leber hereditary optic neuropathy | OMIM mapping confirmed by DO. [SN]. |
| Charcot-Marie-Tooth disease type 4K | |
| Cycloplegia | |
| Hyperopia | |
| cone-rod dystrophy | A retinal degeneration that is an inherited progressive disease that causes deterioration of the cone and rod photoreceptor cells and often results in blindness. |
| Parkinson's disease 7 | |
| Marshall syndrome | |
| Aland Island eye disease | |
| Lactic acidosis | An acquired metabolic disease that has_material_basis_in low pH in body tissues and blood accompanied by the buildup of lactate especially D-lactate. |
| Mitochondrial myopathy | A myopathy that is characterized by mitochondrial dysfunction. |
| Exudative vitreoretinopathy | A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina. |
| 2-hydroxyglutaric aciduria | An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage. |
| Optic atrophy 3 | |
| Eye accommodation disease | |
| Fundus dystrophy | |
| Congenital stationary night blindness | A night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves. |
| Nuclear type mitochondrial complex I deficiency | |
| Mitochondrial encephalomyopathy | |
| Weill-Marchesani syndrome | An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. |
| Liver angiosarcoma | An angiosarcoma and sarcoma of liver and hemangioma of intra-abdominal structure and Ca liver - primary that is located_in the liver. |
| Hereditary night blindness | OMIM mapping confirmed by DO. [SN]. |
| Goldberg-Shprintzen syndrome | |
| Mitochondrial DNA depletion syndrome 9 | |
| Ocular albinism 1 | |
| Multiple acyl-CoA dehydrogenase deficiency | |
| Mitochondrial complex I deficiency | |
| Retinal detachment | OMIM mapping confirmed by DO. [SN]. |
| Infantile hypertrophic cardiomyopathy | |
| Metabolic acidosis | A lactic acidosis that has_material_basis_in high levels of acid. |
| 3-methylglutaconic aciduria type 3 | |
| Choroid disease | |
| Retinal perforation | |
| Usher syndrome type 2A | |
| Optic atrophy | Xref MGI. |
| Dystonia | |
| Multiple mitochondrial dysfunctions syndrome | |
| Hypermobility syndrome | |
| Keratoconus | A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape. |
| Rickets | A bone remodeling disease that has_material_basis_in a vitamin D deficiency in children which results_in softening and deformity located_in bone. |
| Ptosis | An eye disease characterized by the drooping or falling of the upper or lower eyelid. |
| Hypertrophic cardiomyopathy | A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY).|A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract. |
| NARP syndrome | |
| Ethylmalonic encephalopathy | |
| Congenital nystagmus | A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction. |
| Stargardt disease | An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness. |
| Mitochondrial DNA depletion syndrome | |
| Color blindness | A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions. |
| Pathologic nystagmus | |
| Leukoencephalopathy with vanishing white matter | |
| Congenital myasthenic syndrome | A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic). |
| Critical COVID-19 | |
| Neuromuscular disease | A neuropathy that affect the nerves that control the voluntary muscles. |
| Anterograde amnesia | An amnestic disorder that involves the impaired or lost ability to memorize new things. |
| Usher syndrome type 2 | |
| Astigmatism | Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed). |
| Enlarged vestibular aqueduct | OMIM mapping confirmed by DO. [SN]. |
| Choreaacanthocytosis | |
| Axonal neuropathy | |
| Congenital contractural arachnodactyly | |
| Niemann-Pick disease type C1 | |
| Neuromuscular junction disease | A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction. |
| Charcot-Marie-Tooth disease | |
| Exotropia | |
| Bronchiectasis | A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances. |
| Wolff-Parkinson-White syndrome | A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway. |
| Postural orthostatic tachycardia syndrome | |
| Esotropia | Esotropia is a strabismus in which the eye turns inward toward the nose. |
| Dermatomyositis | A myositis and is_a dermatitis that results_in inflammation located_in muscle and located_in skin. The disease may result from either a viral infection or an autoimmune reaction.|A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6) |
| Neuroacanthocytosis | |
| Pitt-Hopkins syndrome | Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing. |
| Spondylolisthesis | A bone structure disease that has_material_basis_in displacement located_in set of vertebrae. |
| MELAS syndrome | OMIM mapping confirmed by DO. [SN]. |
| Ichthyosis vulgaris | OMIM mapping confirmed by DO. [SN]. |
| Gitelman syndrome | OMIM mapping confirmed by DO. [SN]. |
| Fucosidosis | OMIM mapping confirmed by DO. [SN]. |
| Angiokeratoma | |
| Skin hemangioma | |
| Glycoproteinosis | |
| Hepatitis B | A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, transmitted_by blood transfusions, and transmitted_by fomites like needles or syringes. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. |
| Laryngotracheitis | An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe. |
| Integumentary system benign neoplasm | An organ system benign neoplasm located_in the integumentary system organs. |
| Skin benign neoplasm | |
| Sly syndrome | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans. |
| Hemangioma | A cell type benign neoplasm that has_physical_basis_in endothelial cells that line blood vessels and is characterised by increased number of normal or abnormal vessels filled with blood. |
| Viral hepatitis | A hepatitis that involves viral infection causing inflammation of the liver. |
| Aspartylglucosaminuria | OMIM mapping confirmed by DO. [SN]. |
| Duodenal ulcer | Adding UMLS CUI for Curling Ulcer C0013295. |
| Tay-Sachs disease | OMIM mapping confirmed by DO. [SN]. |
| Bile duct carcinoma | A bile duct cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| Mucopolysaccharidosis VI | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase. |
| Peptic ulcer disease | |
| Cholangiocarcinoma | |
| Bile duct adenocarcinoma | A bile duct carcinoma that derives_from epithelial cells of glandular origin. |
| Annular pancreas | A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum. |
| Scheie syndrome | |
| Retinitis pigmentosa 10 | |
| Dental abscess | |
| Leber congenital amaurosis 11 | |
| Thyroid dyshormonogenesis 4 | |
| Hepatic vascular disease | A vascular disease that is located_in the liver. |
| Gastritis | A stomach disease that is an inflammation of the lining of the stomach. |
| Mucopolysaccharidosis IVA | |
| Denture stomatitis | |
| Cone dystrophy | A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. |
| beta-mannosidosis | A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism. |
| Neuroaxonal dystrophy | |
| Intrahepatic cholangiocarcinoma | |
| GM1 gangliosidosis type 2 | GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age. |
| Hepatitis C | A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. |
| Neuronal ceroid lipofuscinosis 11 | |
| Cholestasis | |
| Portal vein thrombosis | A vein disease that is characterized by a blood clot that forms within the hepatic portal vein. |
| Pleurisy | A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs. |
| Spondyloepiphyseal dysplasia | |
| Spastic quadriplegic cerebral palsy | |
| Fibrolamellar carcinoma | |
| Mucopolysaccharidosis Ih/s | |
| Spastic cerebral palsy | A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements. |
| Sclerosing cholangitis | |
| Perinatal necrotizing enterocolitis | |
| Pancreatitis | Inflammation of the pancreas.|INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis. |
| Familial thyroid dyshormonogenesis | |
| Primary sclerosing cholangitis | |
| Vein disease | A vascular disease that is located_in a vein. |
| Periodontal disease | |
| Tarsal tunnel syndrome | |
| Vitamin K deficiency bleeding | |
| Cavernous hemangioma | |
| Vascular hemostatic disease | |
| Placental insufficiency | A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy. |
| Uterine body mixed cancer | A uterine corpus cancer that has_material_basis_in more than one type of cell. |
| Uterine carcinosarcoma | A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma. |
| Uterine corpus endometrial carcinoma | |
| Primary biliary cholangitis | |
| Autoimmune hepatitis | An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells. |
| Rectum adenocarcinoma | A rectum cancer that derives_from epithelial cells of glandular origin. |
| Acute myelomonocytic leukemia | A pediatric acute myeloid leukemia involving both myeloid and monocytoid precursors. At least 20% of non-erythroid cells are of monocytic origin. |
| Gastric adenocarcinoma | A stomach carcinoma that derives_from epithelial cells of glandular origin. |
| Hermansky-Pudlak syndrome 3 | |
| Ovary adenocarcinoma | An ovarian carcinoma that derives_from epithelial cells of glandular origin. |
| Chromophobe renal cell carcinoma | |
| Tibial neuropathy | |
| Paronychia | Paronychia is a nail infectious disease where there is an often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate. |
| Ovarian serous cystadenocarcinoma | An ovary serous adenocarcinoma that has_material_basis_in glandular epithelium, in which cystic accumulations of retained secretions are formed. |
| Newborn respiratory distress syndrome | A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts. |
| Ovarian cystadenocarcinoma | |
| Alcoholic liver cirrhosis | |
| Metabolic dysfunction-associated steatohepatitis | |
| Mucopolysaccharidosis II | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase. |
| Stomach carcinoma | A stomach cancer that is located_in the stomach. |
| Obstructive jaundice | |
| Cholangitis | A bile duct disease that is an inflammation of the bile duct. |
| Choledocholithiasis | |
| Common bile duct disease | |
| Uterine corpus cancer | A uterine cancer that is located_in the uterine corpus. |
| Klatskin's tumor | |
| Tatton-Brown-Rahman syndrome | |
| Primary failure of tooth eruption | |
| Enamel erosion | |
| Acute chest syndrome | A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph. |
| Adrenocortical carcinoma | An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| Adrenal cortex cancer | |
| Tracheomalacia | A tracheal disease characterized by flaccidity of the tracheal support cartilage. |
| Sickle cell disease | disease cluster belonging to disease group other |
| Pleural disease | A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism. |
| Enamel caries | |
| Bladder urothelial carcinoma | |
| Adrenal gland cancer | An endocrine gland cancer located_in the adrenal glands which are located above the kidneys. |
| Cervical adenosquamous carcinoma | A cervical carcinoma that derives_from squamous cells and gland-like cells. |
| Rectum cancer | A colorectal cancer that is located_in the rectum. |
| Hepatitis E | A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus, which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice. |
| Tuberculosis | A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes. |
| Thrombophlebitis | A phlebitis that results from a blood clot in the vessel. |
| Campylobacteriosis | A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever. |
| Portal hypertension | |
| Periodontitis | Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology) |
| Hereditary multiple exostoses | An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results_in multiple bony spurs throughout a child's growth. |
| Spondyloepiphyseal dysplasia with congenital joint dislocations | A spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints. |
| Breast pericanalicular fibroadenoma | |
| Exostosis | A hyperostosis that involves formation of new bone on the surface of preexisting bone. |
| Acute retinal necrosis syndrome | |
| Temtamy preaxial brachydactyly syndrome | An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene. |
| Ehlers-Danlos syndrome musculocontractural type 2 | |
| Herpetic whitlow | A herpes simplex that results_in infection located_in skin of the finger, toe, or thumb, has_material_basis_in Human herpesvirus 1 and has_material_basis_in Human herpesvirus 2 and has_symptom lesions, has_symptom fever, and has_symptom swollen lymph nodes. |
| Hereditary spherocytosis type 3 | |
| Keratitis | |
| Thrombocytopenia | A blood platelet disease characterized by low a platelet count in the blood. |
| Herpes simplex | A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which are transmitted_by direct contact with an active lesion or body fluid of an infected person. |
| Blood platelet disease | |
| Ehlers-Danlos syndrome musculocontractural type 1 | |
| Retinitis | |
| Lewy body dementia | A dementia and a synucleinopathy that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities. |
| Variant Creutzfeldt-Jakob disease | |
| Ehlers-Danlos syndrome spondylodysplastic type 2 | |
| Desbuquois dysplasia | |
| Mast cell neoplasm | A hematologic cancer that has_material_basis_in mast cells. |
| Larsen syndrome | An autosomal dominant disease that is characterized by large-joint dislocations and characteristic craniofacial abnormalities. |
| Chondrosarcoma | A slowly growing malignant neoplasm derived from cartilage cells, occurring most frequently in pelvic bones or near the ends of long bones, in middle-aged and old people. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion or in patients with ENCHONDROMATOSIS. (Stedman, 25th ed)|A malignant mesenchymal tumor arising from cartilage-forming tissues involving the bones. It affects middle-aged to elderly adults, and the pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion. |
| Dissociative amnesia | A dissociative disorder where he continuity of the patient's memory is disrupted. Patients with dissociative amnesia have recurrent episodes in which they forget important personal information or events, usually connected with trauma or severe stress. |
| Conjunctivitis | Conjunctivitis is a conjunctival disease described as a inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids, which is most commonly due to an allergic reaction or an infection (usually viral, but sometimes bacterial. Fungal infections are rare and occur mainly in people who use corticosteroid eye drops for a long time or have eye injuries involving vegetable matter. Newborns are particularly susceptible to eye infections, which they acquire from organisms in the mother's birth canal (neonatal conjunctivitis. |
| Congenital disorder of glycosylation type IIa | |
| Interstitial lung disease 1 | |
| Interstitial lung disease 2 | |
| Pulmonary artery disease | |
| Pulmonary embolism | An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot. |
| Oligodendroglioma | A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO.)|A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2052; Adams et al., Principles of Neurology, 6th ed, p655)|A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO)|A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO.)|A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms (MeSH).|A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor of adults, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). It generally recurs locally, with median post-operative survival times ranging from 3 to 5 years for patients with all histological grades. (Adapted from WHO.) |
| Alexia | |
| Interstitial lung disease | |
| Congenital disorder of glycosylation type II | A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain. |
| Congenital disorder of glycosylation type IIk | |
| Low grade glioma | |
| Moyamoya disease | A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots. |
| Cervical polyp | |
| histiocytosis-lymphadenopathy plus syndrome | |
| Murray Valley encephalitis | A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Murray Valley encephalitis virus, which is transmitted_by Culex annulirostris mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom drowsiness, has_symptom confusion, has_symptom fitting, and has_symptom weakness. |
| Genital herpes | A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands. |
| Chromosome 13q14 deletion syndrome | |
| Atelosteogenesis | OMIM mapping confirmed by DO. [SN]. |
| Central nervous system benign neoplasm | |
| Corneal edema | |
| Subacute sclerosing panencephalitis | A viral infectious disease that results_in infection located_in brain, has_material_basis_in Measles virus which is immune resistant (which can be a result of a mutation of the virus itself). |
| Pilocytic astrocytoma of cerebellum | |
| Ideomotor apraxia | |
| Colon mucinous adenocarcinoma | |
| Subjective cognitive decline | |
| Brachyolmia | An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature. |
| Peters plus syndrome | Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism. |
| Clubfoot | OMIM mapping confirmed by DO. [SN]. |
| Retinitis pigmentosa 11 | |
| MHC class I deficiency | OMIM mapping confirmed by DO. [SN]. |
| Creutzfeldt-Jakob disease | OMIM mapping confirmed by DO. [SN]. |
| Macular corneal dystrophy | A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea. |
| Atypical hemolytic-uremic syndrome | |
| Renal fibrosis | |
| Cerebellar astrocytoma | |
| Cerebrooculofacioskeletal syndrome | |
| Congenital myasthenic syndrome 3B | |
| Congenital myasthenic syndrome 3A | |
| Rett syndrome | A pervasive developmental disease that is a neurological and developmental disorder that mostly occurs in females and is caused_by a mutation on the MECP2 gene on the X chromosome. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities. |
| Status epilepticus | |
| Brachial plexus lesion | A brachial plexus neuropathy characterized by an abnormality, usually caused by disease or trauma, located in the brachial plexus. |
| Megacolon | A colonic disease that is characterized by an abnormal dilation of the colon. |
| Congenital fibrosis of the extraocular muscles | |
| Hirschsprung's disease | A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel. |
| Third cranial nerve disease | |
| Temporal lobe epilepsy | |
| Focal epilepsy | An epilepsy syndrome that is characterised by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response. |
| Preretinal fibrosis | |
| Corneal neovascularization | |
| Congenital mirror movement disorder | |
| Retinopathy of prematurity | |
| Kabuki syndrome | Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency. |
| cone-rod dystrophy 10 | |
| Adenoid cystic carcinoma | Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)|A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands. Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur. Lymph node metastases are unusual; hematogenous tumor spread is characteristic. |
| Capillary hemangioma | |
| Tonsil cancer | |
| Benign ileal neoplasm | |
| RASopathy | |
| Ocular motility disease | |
| Primary progressive multiple sclerosis | |
| Oropharynx cancer | A pharynx cancer that is located_in the oropharynx. |
| Pancreatic ductal adenocarcinoma | A pancreas adenocarcinoma that derives_from pancreatic duct cells. |
| Vitreous syneresis | |
| Vestibular schwannomatosis | |
| Bullous keratopathy | |
| Dyslexia | |
| Reading disorder | A learning disability involing difficulty reading resulting primarily from neurological factors which affect any part of the reading process. |
| Orbital disease | An adnexa disease that is located_in the eye socket. |
| Autosomal recessive nonsyndromic deafness 70 | |
| Secondary progressive multiple sclerosis | |
| Intussusception | OMIM mapping confirmed by DO. [SN]. |
| Retinal ischemia | |
| Lissencephaly | A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation. |
| relapsing-remitting multiple sclerosis | A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles. |
| Von Hippel-Lindau disease | OMIM mapping confirmed by DO. [LS]. |
| Gastrointestinal system benign neoplasm | An organ system benign neoplasm located_in gastrointestinal tract organs. |
| Infratentorial cancer | A brain cancer that is located_in the infratentorial region. |
| Proliferative diabetic retinopathy | |
| Moebius syndrome | |
| Neurofibromatosis | |
| Retinal edema | |
| Waardenburg syndrome | |
| Medulloblastoma | A malignant neoplasm that may be classified either as a glioma or as a primitive neuroectodermal tumor of childhood (see NEUROECTODERMAL TUMOR, PRIMITIVE). The tumor occurs most frequently in the first decade of life with the most typical location being the cerebellar vermis. Histologic features include a high degree of cellularity, frequent mitotic figures, and a tendency for the cells to organize into sheets or form rosettes. Medulloblastoma have a high propensity to spread throughout the craniospinal intradural axis. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2060-1)|A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, desmoplastic medulloblastoma, large cell medulloblastoma, and medulloblastoma with extensive nodularity and advanced neuronal differentiation. (from NCI Thesuarus) |
| Malignant mesothelioma | A cell type cancer that has_material_basis_in mesothelial tissue. |
| Neuroendocrine tumor | An endocrine gland cancer that has_material_basis_in neuroendocrine cells. |
| Gastrojejunal ulcer | |
| Macular retinal edema | |
| Lymphoblastic lymphoma | |
| Schwannomatosis | |
| Bone benign neoplasm | A connective tissue benign neoplasm that is located_in bone. |
| ITM2B-related cerebral amyloid angiopathy 1 | |
| Inflammatory myofibroblastic tumor | |
| Hemangioblastoma | |
| Intestinal benign neoplasm | A gastrointestinal system benign neoplasm that is located_in the intestine. |
| MASA syndrome | An X-linked disease characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range. |
| Nemaline myopathy 1 | |
| Morbid obesity | |
| Endometrioid ovary carcinoma | |
| Mowat-Wilson syndrome | Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR; see this term) and variable congenital malformations. |
| Retinal vein occlusion | |
| Fragile X-associated tremor/ataxia syndrome | A neurodegenerative disease that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA. |
| X-linked hereditary ataxia | |
| Small intestine benign neoplasm | |
| Brachial plexus neuropathy | |
| Neuronitis | |
| Cerebral cavernous malformation | |
| Nonsyndromic deafness | An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms. |
| Retinitis pigmentosa 12 | |
| Pulmonary neuroendocrine tumor | |
| Gastrointestinal neuroendocrine tumor | |
| Transitional cell carcinoma | A carcinoma that derives_from transitional epithelial cells. |
| Duane retraction syndrome | OMIM mapping confirmed by DO. [SN]. |
| Connective tissue benign neoplasm | A musculoskeletal system benign neoplasm that is located_in connective tissue. |
| Retinal vascular occlusion | |
| Optic neuritis | An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision. |
| Corneal dystrophy | |
| Boucher-Neuhauser syndrome | |
| Peripheral vascular disease | A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain. |
| Diabetic macular edema | |
| Invasive ductal carcinoma | |
| Riley-Day syndrome | OMIM mapping confirmed by DO. [SN]. |
| Tongue cancer | |
| Breast ductal carcinoma | A breast carcinoma that derives_from the lining of milk ducts. |
| Geleophysic dysplasia 1 | |
| Testicular yolk sac tumor | |
| Tongue carcinoma | |
| Tongue disease | |
| Intestinal obstruction | |
| Fuchs' endothelial dystrophy | A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision. |
| Developmental and epileptic encephalopathy 28 | |
| Leukodystrophy | A cerebral degeneration characterized by dysfunction of the white matter of the brain. |
| Irritable bowel syndrome | A disorder with chronic or recurrent colonic symptoms without a clearcut etiology. This condition is characterized by chronic or recurrent ABDOMINAL PAIN, bloating, MUCUS in FECES, and an erratic disturbance of DEFECATION.|A syndrome that is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause. |
| Norrie disease | Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders. |
| Multiple endocrine neoplasia | |
| Lateral sclerosis | A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs. |
| Encephalomalacia | |
| Doyne honeycomb retinal dystrophy | |
| Gordon Holmes syndrome | |
| Congenital leptin deficiency | |
| Multiple endocrine neoplasia type 2B | An autosomal dominant disease characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities. |
| Testicular non-seminomatous germ cell cancer | |
| Osteosarcoma | A sarcoma originating in bone-forming cells, affecting the ends of long bones. It is the most common and most malignant of sarcomas of the bones, and occurs chiefly among 10- to 25-year-old youths. (From Stedman, 25th ed)|A malignant mesenchymal tumor arising from the bone.|A usually aggressive malignant bone-forming mesenchymal tumor, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs. |
| Multiple personality disorder | A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities. |
| Fibrillary astrocytoma | An astrocytoma that is characterized as a low grade astrocytoma and has_material_basis_in neoplastic astrocytes. |
| Polymicrogyria | A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain. |
| Cochlear disease | |
| Basaloid squamous cell carcinoma | A squamous cell carcinoma that has a solid, closely packed growth of cells with hyperchromatic nuclei, scant cytoplasm, small cystic spaces, and foci of necrosis. It has overlying squamous dysplasia, rare foci of overt keratinization, and/or coexistent keratinizing squamous cell carcinoma. |
| Ataxic cerebral palsy | A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing. |
| Thyroid gland carcinoma | |
| Large cell carcinoma | A carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm. |
| Autosomal recessive nonsyndromic deafness 36 | |
| Gastric cardia carcinoma | |
| Hereditary sensory neuropathy | |
| Spinal meningioma | |
| Spinal canal and spinal cord meningioma | |
| Paraganglioma | Xref MGI. |
| Extratemporal epilepsy | An epilepsy syndrome that is located_in an area of the brain other than the temporal lobe. |
| Pheochromocytoma | Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines. |
| Corneal endothelial dystrophy | |
| Colorectal adenoma | |
| Tooth ankylosis | OMIM mapping confirmed by DO. [LS]. |
| Peritonitis | A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output. |
| Thyroid gland medullary carcinoma | |
| Congenital bilateral absence of vas deferens | |
| Exocrine pancreatic insufficiency | |
| Ileus | |
| Secretory diarrhea | Secretory diarrhea is a diarrhea where there is an increase in the active secretion, or there is an inhibition of absorption causing little to no structural damage. The most common cause of this type of diarrhea is a cholera toxin that stimulates the secretion of anions, especially chloride ions. |
| Allergic bronchopulmonary aspergillosis | An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has_symptom cough, has_symptom wheezing and has_symptom fever. |
| Primary ciliary dyskinesia | An autosomal recessive genetic disease that causes a defect in the action of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube. |
| Acute pancreatitis | |
| Polycystic kidney disease | An autosomal dominant disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium. |
| Cystic kidney disease | |
| Bronchitis | A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness. |
| Aspergillosis | An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney,heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system. |
| Sinusitis | A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip. |
| Paranasal sinus disease | |
| Alpha 1-antitrypsin deficiency | A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. |
| Progressive familial intrahepatic cholestasis | |
| Intrahepatic cholestasis | Xref MGI. |
| Common cold | An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus. |
| Amino acid metabolic disorder | An inherited metabolic disorders which impair the synthesis and degradation of amino acids. |
| Plasma protein metabolism disease | An inherited metabolic disorder that involves plasma protein metabolism malfunction. |
| Alcoholic pancreatitis | |
| Cepacia syndrome | |
| Opportunistic mycosis | A systemic mycosis that results_in fungal infection located_in human body of immunocompromised individuals, has_material_basis_in Fungi. The organisms invade via the respiratory tract, alimentary tract, or intravascular devices. |
| Systemic mycosis | A fungal infectious disease that results_in infection of internal organs and tissues located_in human body, has_material_basis_in Fungi, which enter the body via the respiratory tract, through the gut, paranasal sinuses or skin and spread through the bloodstream to multiple organs. |
| Renal tubular transport disease | |
| Fungal infectious disease | A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body. |
| Dubin-Johnson syndrome | A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile. |
| Autoimmune pancreatitis | |
| Phenylketonuria | An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. |
| Pulmonary fibrosis | |
| Pendred Syndrome | Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter. |
| Urea cycle disorder | An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. |
| Congenital diarrhea | |
| Pseudoxanthoma elasticum | An autosomal recessive disease characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system. |
| Bronchopulmonary dysplasia | Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring. |
| Biliary atresia | A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder. |
| Metal metabolism disorder | An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals. |
| Microvillus inclusion disease | |
| Sickle cell anemia | OMIM mapping confirmed by DO. [LS]. |
| Gastroesophageal reflux disease | Retrograde flow of gastric juice (GASTRIC ACID) and/or duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the distal ESOPHAGUS, commonly due to incompetence of the LOWER ESOPHAGEAL SPHINCTER. |
| Opportunistic bacterial infectious disease | A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised. |
| Bartter disease | |
| Alagille syndrome | A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts. |
| Progressive familial intrahepatic cholestasis 2 | |
| Pulmonary hypertension | Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES.|A syndrome with pathological changes in the pulmonary arteries and impaired PULMONARY CIRCULATION that can be the result of PULMONARY HYPERTENSION. Ayerza syndrome is characterized by slowly developing ASTHMA; BRONCHITIS; DYSPNEA; and CYANOSIS in association with POLYCYTHEMIA. |
| Hereditary papulotranslucent acrokeratoderma | |
| Kartagener syndrome | A primary ciliary dyskinesia that results from dysfunction of the cilia during embryologic development and is characterized by the triad of sinusitis, bronchiectasis and situs inversus with dextrocardia. |
| Pseudohypoaldosteronism | |
| Long QT syndrome | An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles). |
| Nephrogenic diabetes insipidus | An impaired renal function disease characterized by a complete or partial resistance of the kidneys to vasopressin (ADH). |
| Rhinitis | A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip. |
| Diabetes insipidus | |
| Cholelithiasis | Presence or formation of GALLSTONES in the BILIARY TRACT, usually in the gallbladder (CHOLECYSTOLITHIASIS) or the common bile duct (CHOLEDOCHOLITHIASIS). |
| Progressive familial intrahepatic cholestasis 3 | |
| Mineral metabolism disease | An acquired metabolic disease that is characterized by abnormal mineral metabolism. |
| Pulmonary edema | |
| Tyrosinemia | An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine. |
| Bilirubin metabolic disorder | An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism. |
| Autoimmune disease of endocrine system | A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system. |
| Progressive familial intrahepatic cholestasis 1 | |
| Nephrolithiasis | Formation of stones in the KIDNEY. |
| Benign recurrent intrahepatic cholestasis | |
| Extrinsic asthma | |
| Bronchiolitis obliterans | A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults. |
| Bronchiolitis | A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen. |
| Oligoasthenoteratozoospermia | |
| Oligospermia | |
| Adrenoleukodystrophy | A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death. |
| Biliary dyskinesia | A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree. |
| Allergic asthma | An asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. Allergic asthma is airway obstruction and inflammation that is partially reversible with medication. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness. |
| Polygenic disease | |
| Varicocele | |
| Varicose veins | A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin. |
| Wilson disease | OMIM mapping confirmed by DO. [SN]. |
| Combined immunodeficiency | |
| Allergic rhinitis | A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites. |
| Situs inversus | OMIM mapping confirmed by DO. [LS]. |
| Liddle syndrome | OMIM mapping confirmed by DO. [SN]. |
| Visceral heterotaxy | A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen. |
| Congenital hypothyroidism | A hypothyroidism that is present at birth. |
| Galactosemia | A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. |
| Choledochal cyst | |
| Pelvic varices | |
| Calcium metabolism disease | |
| Intestinal infectious disease | An intestinal disease that involves intestinal infection caused by viruses, bacteria, fungi and parasites. |
| Becker muscular dystrophy | OMIM mapping confirmed by DO. [SN]. |
| Hypereosinophilic syndrome | |
| Dysentery | An intestinal infectious disease that involves inflammation of the intestines, especially colon, due to chemical irritants, bacteria, protozoa, or parasitic worms, which results in severe diarrhea with passage of mucus and blood. |
| Bacterial pneumonia | A pneumonia involving inflammation of the lungs caused by bacteria. |
| Hypercalcemia | |
| Pneumothorax | |
| Respiratory syncytial virus infectious disease | |
| Hemochromatosis | A metal metabolism disorder characterized by the accumulation of iron in various organs of the body. |
| Digenic disease | |
| Benign recurrent intrahepatic cholestasis 2 | |
| Diastrophic dysplasia | An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism. |
| Myotonia congenita | |
| Inflammatory diarrhea | A gastrointestinal system infectious disease involving diarrhea that occurs when there is damage to the mucosal lining or brush border, which leads to a passive loss of protein-rich fluids, and a decreased ability to absorb these lost fluids. It can be caused by bacterial infections, viral infections, parasitic infections, or autoimmune problems such as inflammatory bowel diseases. It can also be caused by tuberculosis, colon cancer, and enteritis. |
| Methylmalonic acidemia | An organic acidemia that involves an accumulation of methylmalonic acid in the blood. |
| Transthyretin amyloidosis | An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene. |
| maturity-onset diabetes of the young type 8 | |
| Gout | Hereditary metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of uric acid calculi. |
| Severe combined immunodeficiency | A combined T cell and B cell immunodeficiency that is caused by a defect in several genes encoding for B and T lymphocytes resulting in individuals with non-functional immune systems. |
| Hypokalemia | |
| Neonatal diabetes | |
| Short bowel syndrome | |
| Usher syndrome | A syndrome characterized by a combination of hearing loss and visual impairment. |
| Autosomal recessive cerebellar ataxia | |
| Nutritional deficiency disease | |
| B cell deficiency | A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly. |
| End stage renal disease | |
| Cor pulmonale | A congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in the lungs. |
| Invasive aspergillosis | An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage. |
| Renal tubular acidosis | A renal tubular transport disease characterized by excess levels of acid in the blood, due to a failure of the kidneys to appropriately acidify the urine. |
| Lynch syndrome | |
| Typhoid fever | A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia. |
| Severe COVID-19 | |
| Sitosterolemia | |
| Urinary tract infection | |
| Rectal prolapse | |
| Intrahepatic cholestasis of pregnancy | |
| Familial adenomatous polyposis | An autosomal dominant disease that is caused by mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer. |
| Pancreatic steatorrhea | |
| Long QT syndrome 2 | |
| Intestinal volvulus | |
| Nephrocalcinosis | |
| Dent disease | A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene. |
| Hypersensitivity reaction type IV disease | |
| Congenital secretory sodium diarrhea 8 | |
| Epidermolysis bullosa | |
| Vesiculobullous skin disease | |
| Hypersensitivity reaction disease | An immune system disease that is caused by abnormal immune responses. |
| Multiple intestinal atresia | OMIM mapping confirmed by DO. [SN]. |
| Polyhydramnios | A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac. |
| Sarcoidosis | A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs. |
| Acute diarrhea | A diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. |
| Hereditary breast ovarian cancer syndrome | |
| Mitral valve prolapse | A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole. |
| Citrullinemia | An urea cycle disorder that involves the accumulation of ammonia in the blood. |
| Pulmonary alveolar proteinosis | A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange. |
| Tyrosinemia type I | A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body. |
| Hyperparathyroidism | A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body. |
| Hyperinsulinemic hypoglycemia | A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin. |
| Spermatocele | |
| limb-girdle muscular dystrophy | A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles. |
| Bullous skin disease | An autoimmune disease of skin and connective tissue that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested. |
| Ataxia telangiectasia | OMIM mapping confirmed by DO. [SN]. |
| Biotinidase deficiency | A multiple carboxylase deficiency that involves a deficiency in biotinidase. |
| Type 1 diabetes mellitus | A diabetes mellitus that results from the body's failure to produce insulin and has_material_basis_in autoimmune destruction of insulin-producing beta cells of the pancreas. |
| Urolithiasis | presence of calculi in any part of the urinary system |
| Medium chain acyl-CoA dehydrogenase deficiency | Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention. |
| Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | |
| Leukopenia | decrease in no. of leukocytes |
| Pulmonary emphysema | |
| Dysplastic nevus syndrome | OMIM mapping confirmed by DO. [SN]. |
| adult-onset type II citrullinemia | |
| Multiple carboxylase deficiency | An amino acid metabolic disorder that involves failures of carboxylation enzymes. |
| Intestinal atresia | |
| Combined T cell and B cell immunodeficiency | A primary immunodeficiency disease that involves multiple components of the immune system, including both humoral immunity and cell-mediated immunity. |
| Agammaglobulinemia | A B cell deficiency that is caused by a reduction in all types of gamma globulins. |
| Congenital diarrhea 5 with tufting enteropathy | |
| Autosomal recessive nonsyndromic deafness 4 | |
| Nephronophthisis | An autosomal recessive disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). |
| childhood-onset asthma | |
| Bronchopneumonia | A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses. |
| Familial Mediterranean fever | A hypersensitivity reaction type II disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; caused by mutations in the MEFV gene, which encodes the protein pyrin. |
| Rectal disease | |
| Severe acute respiratory syndrome | A coronavirus infectious disease and is_a respiratory system infectious disease that results_in infection located_in respiratory tract, has_agent SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.|Severe acute respiratory syndrome is a respiratory tract infection described as a severe respiratory illness that is transmitted especially by contact with infectious material (as respiratory droplets or body fluids), is caused by a single-stranded RNA virus of the genus Coronavirus (SARS-CoV), is characterized by fever, headache, body aches, a dry cough, and hypoxia and usually by pneumonia.|A respiratory system infectious disease and is_a coronavirus infectious disease that results_in infection located_in respiratory tract, has_agent SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.|A viral disorder characterized by high FEVER, dry COUGH, shortness of breath (DYSPNEA) or breathing difficulties, and atypical PNEUMONIA. A virus in the genus CORONAVIRUS is the suspected agent.|A respiratory system infectious disease that is a severe respiratory illness characterized by fever, headache, body aches, a dry cough, and hypoxia and pneumonia caused by a single-stranded RNA virus of the genus SARS coronavirus (SARS-CoV). |
| Maple syrup urine disease | An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures. |
| Arterial calcification of infancy | A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall. |
| Vitelliform macular dystrophy | A macular degeneration that can cause progressive vision loss, it is characterized by the disruption of cells in a small area near the center of the retina, the macula. |
| Leber congenital amaurosis 10 | |
| Goiter | Enlargement of the THYROID GLAND that may increase from about 20 grams to hundreds of grams in human adults. Goiter is observed in individuals with normal thyroid function (euthyroidism), thyroid deficiency ( HYPOTHYROIDISM), or hormone overproduction ( HYPERTHYROIDISM). Goiter may be congenital or acquired, sporadic or endemic ( GOITER, ENDEMIC). |
| X-linked nephrogenic diabetes insipidus | |
| Shwachman-Diamond syndrome | Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation. |
| Peutz-Jeghers syndrome | OMIM mapping confirmed by DO. [SN]. |
| Extrinsic allergic alveolitis | An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss. |
| Propionic acidemia | An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy. |
| Middle lobe syndrome | A lung disease that is defined as a recurrent or chronic collapse of the right middle lobe, right upper lobe or lingula of the lung. It is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreign bodies, endobronchial silicotic nodules, inspissated mucus associated with cystic fibrosis or inflammation as a result of an infection. |
| Esophageal varix | |
| Intrinsic asthma | An asthma that is triggered by factors not related to allergies such as anxiety, stress, exercise, cold air, dry air, hyperventilation, smoke, viruses, chemical irritants, autonomic imbalance, hormonal deficiencies and psychogenic influences. It is characterized by airway obstruction and inflammation that is at least partially reversible with medication. The symptoms include coughing, wheezing, shortness of breath or rapid breathing, and chest tightness. |
| Oligohydramnios | A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion. |
| Porphyria | An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. |
| Meningitis | Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents. |
| Thomsen disease | OMIM mapping confirmed by DO. [SN]. |
| thrombocytopenia-absent radius syndrome | OMIM mapping confirmed by DO. [LS]. |
| Pneumoconiosis | An interstitial lung disease that is caused by the inhalation of dust. |
| Gastroparesis | |
| Extrahepatic cholestasis | |
| Functional gastric disease | |
| Palmoplantar keratosis | A keratosis characterized by abnormal thickening of the palms and the soles. |
| Factor VIII deficiency | An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait. |
| Urinary tract obstruction | |
| Familial hyperlipidemia | |
| Ureteral disease | A urinary system disease that is located_in the ureter. |
| Sexual dysfunction | |
| Migraine | A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing. |
| Canavan disease | OMIM mapping confirmed by DO. [SN]. |
| Pulmonary tuberculosis | A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis. |
| Vasculitis | A vascular disease that is characterized by inflammation of the blood vessels. |
| Bestrophinopathy | OMIM mapping confirmed by DO. [SN]. |
| Osteopetrosis | An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones. |
| Hypertrichotic osteochondrodysplasia Cantu type | |
| Leukocyte adhesion deficiency | OMIM mapping confirmed by DO. [SN]. |
| Acute porphyria | A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis. |
| Tracheal disease | |
| Sleep apnea | A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep. |
| Hyper IgE syndrome | |
| Pigmentation disease | |
| Li-Fraumeni syndrome | An autosomal dominant disease characterized by increases risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata. |
| Episodic kinesigenic dyskinesia 1 | |
| Agranulocytosis | |
| Systemic primary carnitine deficiency disease | An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy. |
| Hypersplenism | |
| Phagocyte bactericidal dysfunction | A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection. |
| Autosomal recessive nonsyndromic deafness | A nonsyndromic deafness characterized by an autosomal recessive inheritance mode. |
| Silicosis | A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles. |
| maturity-onset diabetes of the young type 5 | |
| Familial chylomicronemia syndrome | |
| Ectodermal dysplasia | Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. |
| Mitral valve disease | |
| protein-energy malnutrition | |
| Heart valve disease | A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right). |
| Idiopathic interstitial pneumonia | A pneumonia located_in the lung parenchyma of unknown cause. |
| Neutropenia | |
| Peroxisomal disease | An inherited metabolic disorder that involves peroxisome malfunction. |
| Oculocutaneous albinism | An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes. |
| Congenital muscular dystrophy | A muscular dystrophy that is an autosomal recessive disorder present at birth, which may result in contractures, scoliosis, respiratory and swallowing difficulties, and foot deformities. |
| Thrombophilia | OMIM mapping confirmed by DO. [LS]. |
| Impotence | |
| Hyperimmunoglobulin syndrome | |
| Splenic disease | |
| Osteosclerosis | A bone remodeling disease that results_in abnormal elevated bone density or mass. |
| Autosomal recessive limb-girdle muscular dystrophy | |
| Ullrich congenital muscular dystrophy | OMIM mapping confirmed by DO. [SN]. |
| Hyperekplexia | |
| Viral pneumonia | A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus. |
| Crigler-Najjar syndrome | A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT). |
| Cholecystitis | A cholangitis that is an inflammation of the gallbladder. |
| Suppurative cholangitis | |
| Acrodermatitis enteropathica | |
| Chronic granulomatous disease | A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed. |
| X-linked congenital bilateral absence of vas deferens | |
| Progeroid syndrome | |
| Von Willebrand's disease | A coagulation protein disease that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion. |
| Hyperuricemia | An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood. |
| Progeria | OMIM mapping confirmed by DO. [SN]. |
| Somatoform disorder | A disease of mental health that involves physical symptoms suggesting a physical illness where the biological or medical cause of the symptoms is indeterminate. |
| Chronic pulmonary heart disease | |
| Familial hypercholesterolemia | A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. |
| Acute asthma | |
| Candidiasis | An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons. |
| Brugada syndrome | A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. |
| Autosomal recessive pseudohypoaldosteronism type 1 | |
| Gastrointestinal stromal tumor | OMIM mapping confirmed by DO. [SN]. |
| Plague | A primary bacterial infectious disease that results_in infection, located_in lymph node, located_in vasculature or located_in lungs, has_material_basis_in Yersinia pestis, which is transmitted_by oriental rat flea (Xenopsylla cheopis) infected by feeding on rodents and other mammals, transmitted_by air, transmitted_by direct contact or transmitted_by ingestion of contaminated undercooked food. |
| Autoimmune cholangitis | |
| Primary pulmonary hypertension | A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling. |
| X-linked severe combined immunodeficiency | |
| Adenoid hypertrophy | |
| Hypohidrosis | |
| Primary hyperparathyroidism | Xref MGI. |
| Dental caries | Localized destruction of the tooth surface initiated by decalcification of the enamel followed by enzymatic lysis of organic structures and leading to cavity formation. If left unchecked, the cavity may penetrate the enamel and dentin and reach the pulp. The three most prominent theories used to explain the etiology of the disease are that acids produced by bacteria lead to decalcification; that micro-organisms destroy the enamel protein; or that keratolytic micro-organisms produce chelates that lead to decalcification. |
| Junctional epidermolysis bullosa | Xref MGI. |
| Arthropathy | A bone inflammation disease that is located_in joint. |
| graft-versus-host disease | |
| Chronic rhinitis | A rhinitis which is persistent and long-lasting. It may occur with diseases such as syphilis, tuberculosis, rhinoscleroma, rhinosporidiosis, leishmaniasis, blastomycosis, histoplasmosis, and leprosy, all of which are characterized by the formation of inflamed lesions (granulomas) and the destruction of soft tissue, cartilage, and bone. Chronic rhinitis causes nasal obstruction, pus-filled discharge from the nose, and frequent bleeding. |
| Ascending cholangitis | |
| Achondroplasia | An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone. |
| Ebola hemorrhagic fever | A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted_by contaminated fomites, or transmitted_by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding. |
| Salivary gland disease | |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| Acute intermittent porphyria | |
| Von Willebrand's disease 1 | |
| Bothnian type palmoplantar keratoderma | |
| Joubert syndrome 26 | |
| Bile reflux | |
| Maxillary sinusitis | A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache. |
| Common variable immunodeficiency | A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM). |
| Obstructive sleep apnea | A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep. |
| Calcium oxalate nephrolithiasis | The presence of calcium- and oxalate-containing calculi (stones) in the kidneys. |
| Developmental and epileptic encephalopathy | |
| Pain disorder | A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress. |
| Glomerulonephritis | A nephritis that causes inflammation of the glomeruli located_in kidney. |
| Homocystinuria | An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. |
| Long QT syndrome 1 | |
| Miliaria | |
| Polycystic kidney disease 1 | disease cluster belonging to disease group renal |
| Endocarditis | A heart disease involving non-infectious inflammation of the endocardium (inner layer of the heart).|Inflammation of the inner lining of the heart (ENDOCARDIUM), the continuous membrane lining the four chambers and HEART VALVES. It is often caused by microorganisms including bacteria, viruses, fungi, and rickettsiae. Left untreated, endocarditis can damage heart valves and become life-threatening.|Inflammation of the endocardium. |
| Congenital bile acid synthesis defect | |
| Ovarian hyperstimulation syndrome | OMIM mapping confirmed by DO. [SN]. |
| Endocrine pancreas disease | |
| Microscopic colitis | |
| Ureteral obstruction | |
| Endocardium disease | A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart. |
| Juvenile rheumatoid arthritis | A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint. |
| maturity-onset diabetes of the young type 2 | |
| Johanson-Blizzard syndrome | An autosomal recessive disease that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner. |
| Rheumatic disease | |
| Malignant hyperthermia | A genetic disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature. |
| Hereditary arterial and articular multiple calcification syndrome | |
| Chronic maxillary sinusitis | A maxillary sinusitis which lasts for 12 weeks or more. |
| Measles | A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash. |
| Wiskott-Aldrich syndrome | OMIM mapping confirmed by DO. [SN]. |
| Peroxisomal biogenesis disorder | |
| Distal myopathy | |
| VIPoma | |
| Isovaleric acidemia | An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine. |
| Marasmus | |
| Choroideremia | OMIM mapping confirmed by DO. [SN]. |
| Functional diarrhea | |
| Atrophic gastritis | |
| Neonatal respiratory failure | |
| Immunoglobulin alpha deficiency | A B cell deficiency that is an autosomal recessive disorder caused by mutation in the IgA (CD79 alpha) antigen receptor. |
| Primary hyperoxaluria | OMIM mapping confirmed by DO. [SN]. |
| Familial hypocalciuric hypercalcemia | Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration. |
| Fanconi syndrome | A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting. |
| Aortic disease | An artery disease that is characterized by degeneration of the cells composing the aortic wall. |
| Epidermolysis bullosa dystrophica | |
| Scott syndrome | Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity. |
| Spermatic cord torsion | |
| Mumps | A viral infectious disease that results_in inflammation located_in salivary gland, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom headache, has_symptom muscle aches, has_symptom tiredness, has_symptom loss of appetite, has_symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face. |
| Miliaria rubra | |
| Lymphopenia | A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood. |
| Permanent neonatal diabetes mellitus | Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment. |
| Scleroderma | A rheumatic disease and collagen disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs. |
| Stomatitis | |
| Autonomic nervous system disease | |
| Herpangina | A viral infectious disease that results_in infection located_in mouth, has_material_basis_in Human coxsackievirus A16, has_material_basis_in Human enterovirus 71, has_material_basis_in group B coxsackievirus, or has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom sore throat, and has_symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars. |
| Zellweger syndrome | A peroxisomal disease that is characterized by the reduction or absence of functional peroxisomes in the cells of an individual that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes. |
| Dravet syndrome | An epilepsy that is characterized by frequent febrile seizures with onset before 1 year. |
| Acute necrotizing pancreatitis | |
| Acute maxillary sinusitis | A maxillary sinusitis which lasts for less than 4 weeks. |
| Dental fluorosis | |
| Friedreich ataxia | Xref MGI. |
| Hydronephrosis | |
| Middle East respiratory syndrome | |
| Vitamin metabolic disorder | An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism. |
| Spermatogenic failure 16 | |
| Autoimmune disease of exocrine system | |
| Sjogren's syndrome | A hypersensitivity reaction type II disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva. |
| Ischemic colitis | |
| Bowel dysfunction | |
| Male infertility due to acephalic spermatozoa | |
| Sweat gland disease | |
| Duodenum disease | |
| Alport syndrome | A monogenic disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss. |
| Acute serous otitis media | A acute transudative otitis media with thin, watery and sterile effusion. |
| Cataract 18 | |
| Bloch-Sulzberger syndrome | OMIM mapping confirmed by DO. [SN]. |
| Lung papillary adenocarcinoma | |
| Megalencephalic leukoencephalopathy with subcortical cysts | Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic symptoms at presentation (such as mild motor delay), which worsen over years to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging (MRI) reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions. |
| Stevens-Johnson syndrome | |
| Hyper IgE recurrent infection syndrome 1 | |
| Congenital malabsorptive diarrhea 4 | |
| Appendicitis | A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever. |
| Cecal disease | |
| Vestibular disease | |
| Autosomal recessive congenital ichthyosis | |
| Primary hyperoxaluria type 1 | Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement. |
| Esophageal atresia | |
| Familial nephrotic syndrome | |
| X-linked juvenile retinoschisis 1 | |
| Lipodystrophy | |
| Cystinuria | An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder. |
| Hyperargininemia | An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine. |
| Caroli disease | |
| Myotonic disease | A muscular dystrophy that is characterized by progressive muscle wasting and weakness. |
| Caroli syndrome | |
| Lactose intolerance | OMIM mapping confirmed by DO. [SN]. |
| Cerebral arterial disease | |
| Intracranial arterial disease | |
| Lymph node disease | |
| Pancreatic cholera | |
| Progressive familial intrahepatic cholestasis 4 | |
| Autosomal recessive nonsyndromic deafness 1A | |
| Syndromic X-linked intellectual disability 94 | |
| epithelial-stromal TGFBI dystrophy | |
| Duodenal obstruction | |
| Epididymitis | |
| Epididymis disease | |
| Myotonic dystrophy type 1 | A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_physical_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region. |
| Drug allergy | |
| Hemophagocytic lymphohistiocytosis | A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages. |
| Retinoschisis | |
| Autoimmune disease of blood | A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood. |
| Status asthmaticus | An asthma that is a life threatening condition with progressive respiratory failure, which does not respond to standard treatment. |
| Small intestine cancer | An intestinal cancer that is located_in the small intestine. |
| Miliaria profunda | |
| Clostridium difficile colitis | |
| Beckwith-Wiedemann syndrome | A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations. |
| Eating disorder | A specific developmental disorder that is characterized by abnormal eating habits that may involve either insufficient or excessive food intake to the detriment of an individual's physical and emotional health. |
| Cerebral creatine deficiency syndrome 1 | |
| Anhidrosis | OMIM mapping confirmed by DO. [SN]. |
| Vitamin B12 deficiency | A vitamin metabolic disorder that results from low blood levels of vitamin B12. |
| Lung mucoepidermoid carcinoma | |
| Myelodysplastic syndrome | Myelodysplastic syndromes are a class of syndromes which involve ineffective production (or dysplasia) of the myeloid class of blood cells.|A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001) |
| Hailey-Hailey disease | OMIM mapping confirmed by DO. [SN]. |
| maturity-onset diabetes of the young type 3 | |
| Nasopharyngitis | A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx. |
| Diabetic ketoacidosis | OMIM mapping confirmed by DO. [SN]. |
| Abetalipoproteinemia | A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_physical_basis_in an autosomal recessive disorder of lipid metabolism caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). |
| Panniculitis | |
| Congenital secretory chloride diarrhea 1 | |
| Glucosephosphate dehydrogenase deficiency | A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH). |
| Lipomatosis | |
| Autosomal recessive congenital ichthyosis 4B | |
| Dacryoadenitis | |
| Duodenal atresia | A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum. |
| Oculocutaneous albinism type IA | |
| Intestinal perforation | |
| Patau syndrome | OMIM mapping confirmed by DO. [LS]. |
| Hydrocele | |
| Barrett's esophagus | Metaplasia of the lower esophagus that is characterized by replacement of squamous epithelium with columnar epithelium, occurs especially as a result of chronic gastroesophageal reflux, and is associated with an increased risk for esophageal carcinoma. |
| Hypophosphatasia | OMIM mapping confirmed by DO. [SN]. |
| Pancreatic agenesis | |
| Lattice corneal dystrophy | |
| Hypomyelinating leukodystrophy | |
| Intracranial aneurysm | |
| Lymphangioleiomyomatosis | |
| Systemic scleroderma | A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.|A chronic multi-system disorder of CONNECTIVE TISSUE. It is characterized by SCLEROSIS in the SKIN, the LUNGS, the HEART, the GASTROINTESTINAL TRACT, the KIDNEYS, and the MUSCULOSKELETAL SYSTEM. Other important features include diseased small BLOOD VESSELS and AUTOANTIBODIES. The disorder is named for its most prominent feature (hard skin), and classified into subsets by the extent of skin thickening: LIMITED SCLERODERMA and DIFFUSE SCLERODERMA. |
| Phlebitis | A vein disease that is characterized by inflammation of a vein. |
| exercise-induced bronchoconstriction | |
| Hyperkalemic periodic paralysis | OMIM mapping confirmed by DO. [SN]. |
| Aniridia 1 | |
| Cerebral creatine deficiency syndrome | |
| Adenosine deaminase deficiency | A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP. |
| Miyoshi muscular dystrophy | |
| Progressive familial intrahepatic cholestasis 5 | |
| Lymphangioma | |
| Neonatal jaundice | A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant. |
| Meconium aspiration syndrome | |
| Timothy syndrome | An autosomal dominant disease that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form caused by mutations in a transcript variant of CACNA1C. |
| Charcot-Marie-Tooth disease type 1 | OMIM mapping confirmed by DO. [SN]. |
| Gastric outlet obstruction | |
| Primary cutaneous T-cell non-Hodgkin lymphoma | |
| Marfan syndrome | OMIM mapping confirmed by DO. [SN]. |
| Intestinal pseudo-obstruction | |
| Congenital myopathy | |
| Bloom syndrome | OMIM mapping confirmed by DO. [SN]. |
| Alstrom syndrome | An autosomal recessive disease that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene. |
| Oculocutaneous albinism type II | |
| Hartnup disease | An amino acid metabolic disorder that iis caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum. |
| Benign vascular tumor | |
| Arrhythmogenic right ventricular cardiomyopathy | An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle. |
| Congenital lactase deficiency | Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula. |
| Laryngitis | A laryngeal disease involving an inflammation of the larynx leading to hoarse voice or a complete loss of voice due to irritation of the vocal cords caused by viral, bacterial or fungal infection, inflammation due to overuse of the vocal cords and excessive coughing, smoking, or alcohol consumption. |
| purine-pyrimidine metabolic disorder | An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism. |
| Leprosy | A chronic granulomatous infection caused by MYCOBACTERIUM LEPRAE. The granulomatous lesions are manifested in the skin, the mucous membranes, and the peripheral nerves. Two polar or principal types are lepromatous and tuberculoid. |
| Essential hypertension | A hypertension with no known cause. It is the most common type of hypertension. |
| protein-losing enteropathy | OMIM mapping confirmed by DO. [SN]. |
| Noonan syndrome | OMIM mapping confirmed by DO. [SN]. |
| Hepatoblastoma | |
| Intestinal impaction | |
| Epidermolysis bullosa simplex | |
| Pyelonephritis | |
| Cerebral palsy | A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance. |
| Pyelitis | |
| Hereditary angioedema | OMIM mapping confirmed by DO. [SN]. |
| Apparent mineralocorticoid excess syndrome | |
| Polyneuropathy | |
| Familial periodic paralysis | |
| Gingival disease | |
| Parasitic helminthiasis infectious disease | A parasitic infectious disease that occurs when part of the body is infested with parasitic worms such as cestodes, nematodes and trematodes. |
| Urticaria | Urticaria is a kind of skin rash notable for pale red, raised, itchy bumps that might also cause a burning or stinging sensation. It is often but not necessarily caused by an allergic reaction. |
| Iminoglycinuria | |
| Lesch-Nyhan syndrome | OMIM mapping confirmed by DO. [SN]. |
| Paget's disease of bone | A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs. |
| Gilbert syndrome | A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity. |
| Glycogen storage disease V | OMIM mapping confirmed by DO. [SN]. |
| Hallermann-Streiff syndrome | A syndrome that affects growth, cranial development, hair growth and dental development. |
| Angioid streaks | OMIM mapping confirmed by DO. [SN]. |
| IgG4-related disease | |
| Myositis | An inflammatory process affecting the skeletal muscles. Causes include infections, injuries, and autoimmune disorders.|Inflammation of a muscle or muscle tissue. |
| Pelizaeus-Merzbacher disease | OMIM mapping confirmed by DO. [SN]. |
| Churg-Strauss syndrome | A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding. |
| Osteomyelitis | A bone inflammation disease that results_from infection located_in bone and located_in bone marrow. |
| Autonomic neuropathy | |
| Pyloric stenosis | |
| Osteomalacia | A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone. |
| Short QT syndrome | An autosomal dominant disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. |
| Nonspecific interstitial pneumonia | An idiopathic interstitial pneumonia that occurs mainly in women, people who do not smoke, and people younger than 50 years with no known cause or risk factors. Lung biopsies may show predominantly interstitial inflammation or fibrosis or a combination of inflammation and fibrosis. A dry cough and shortness of breath develop over 6 to 18 months. Low-grade fever and a feeling of illness (malaise) may occur. |
| Autoimmune gastritis | |
| Dyskeratosis congenita | A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer. |
| Hepatic encephalopathy | |
| Ectopic pregnancy | |
| Catecholaminergic polymorphic ventricular tachycardia | Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death. |
| Lymphadenitis | |
| ARC syndrome | A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis, caused_by homozygous or compound heterozygous mutation located_in VPS33B gene. |
| hemolytic-uremic syndrome | Xref MGI. |
| Familial lipoprotein lipase deficiency | OMIM mapping confirmed by DO. [SN]. |
| Acute myocardial infarction | |
| Achromatopsia | A color blindness that is characterized by a congenital color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance. |
| Adenoiditis | An upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. It occurs primarily in children and may be secondary to an allergy, infection of nose or throat and an obstruction of the eustachian tube. The infection has_symptom pain, has_symptom redness, has_symptom swelling, and has_symptom difficulty swallowing. |
| Gnathodiaphyseal dysplasia | |
| Hereditary neuropathy with liability to pressure palsies | Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities. |
| Hyperhomocysteinemia | An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood. |
| Phosphorus metabolism disease | |
| Episodic ataxia | A neuromuscular disease characterized by sporadic bouts of ataxia with or without continuous muscle movement. |
| maturity-onset diabetes of the young type 1 | |
| Isolated hyperchlorhidrosis | |
| Extrinsic cardiomyopathy | A cardiomyopathy that is characterized by the pathology occuring outside of the myocardium. |
| Choline deficiency disease | |
| Autosomal dominant familial periodic fever | |
| Immunodeficiency 21 | |
| X-linked agammaglobulinemia | |
| Secondary hyperparathyroidism | |
| Retinitis pigmentosa 37 | |
| Gingivitis | |
| Aspiration pneumonitis | A pneumonia that is defined as an acute lung injury after the inhalation of foreign material such as regurgitated acidic gastric contents, petroleum products and laxative oils. This syndrome occurs in patients who have a marked disturbance of consciousness such as that resulting from a drug overdose, seizures, a massive cerebrovascular accident, or the use of anesthesia. Aspiration of gastric contents results in a chemical burn of the tracheobronchial tree and pulmonary parenchyma, causing an intense parenchymal inflammatory reaction. The disesae has_symptom non-productive cough, has_symptom tachypnea, has_symptom bronchospasm, has_symptom bloody sputum, has_symptom frothy sputum, or has_symptom respiratory distress, 2-5 hrs after aspiration. |
| Myocarditis | An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle. |
| Blind loop syndrome | |
| Silver-Russell syndrome | OMIM mapping confirmed by DO. [LS]. |
| Acute cholangitis | |
| Postaxial acrofacial dysostosis | Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia. |
| Von Willebrand's disease 2 | |
| Pancreatic cystadenoma | |
| Hereditary elliptocytosis | A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present. |
| Neurofibromatosis 1 | |
| Graves' disease | An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland. |
| Thiopurine S-methyltransferase deficiency | |
| Pearson syndrome | A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction. |
| Miller-Dieker lissencephaly syndrome | |
| Pericholangitis | |
| Intermittent claudication | |
| Small intestine carcinoma | A small intestine cancer that develops from epithelial cells and is located_in the small intestine. |
| Spastic ataxia | |
| Hypogonadotropic hypogonadism 22 with or without anosmia | |
| Syphilis | A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years. |
| Arrhythmogenic right ventricular dysplasia 11 | |
| Ellis-Van Creveld syndrome | OMIM mapping confirmed by DO. [SN]. |
| Distal arthrogryposis | A muscle tissue disease characterized by congenital joint contractures of hand and feet. |
| Absence epilepsy | |
| Mayer-Rokitansky-Kuster-Hauser syndrome type 1 | |
| Branchiootorenal syndrome | OMIM mapping confirmed by DO. [SN]. |
| Hiatus hernia | OMIM mapping confirmed by DO. [SN]. |
| Esophageal carcinoma | Tumors or cancer of the ESOPHAGUS. |
| Listeriosis | A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth. |
| Facioscapulohumeral muscular dystrophy | OMIM mapping confirmed by DO. [SN]. |
| Insulinoma | A benign tumor of the PANCREATIC BETA CELLS. Insulinoma secretes excess INSULIN resulting in HYPOGLYCEMIA.|A usually benign, well circumscribed neoplasm arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin. |
| Familial atrial fibrillation | An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes. |
| Parastremmatic dwarfism | Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs. |
| Esophagus adenocarcinoma | An esophageal carcinoma that derives_from epithelial cells of glandular origin. |
| Autoimmune disease of cardiovascular system | A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system. |
| Angioedema | condition similar to urticarai but with swelling occuring in a lower layer of the dermis as well as in the subcutis |
| Barth syndrome | A lipid metabolism disorder that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin. |
| Very long chain acyl-CoA dehydrogenase deficiency | Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis. |
| Hypertrophic pyloric stenosis | A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting. |
| Xanthomatosis | A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts. |
| Desquamative interstitial pneumonia | An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation. |
| Patent ductus arteriosus | OMIM mapping confirmed by DO. [SN]. |
| Aspiration pneumonia | A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough. |
| Pericardium disease | A cardiovascular system disease that is located_in the fibrous sac surrounding the heart. |
| Factor VII deficiency | |
| CINCA Syndrome | Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs. |
| Prolidase deficiency | |
| Hepatitis A | A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. |
| Pharyngitis | An upper respiratory tract disease involving inflammation of the throat or pharynx resulting from bacterial, viral, fungal infections or irritants like pollutants or chemical substances and smoking. The infection is often referred to as sore throat. The symptoms include pain during swallowing, enlarged tonsils coated with a white discharge, runny nose, cough and slight fever. |
| Hypopituitarism | Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FOLLICLE STIMULATING HORMONE; SOMATOTROPIN; and CORTICOTROPIN). This may result from surgical or radiation ablation, non-secretory PITUITARY NEOPLASMS, metastatic tumors, infarction, PITUITARY APOPLEXY, infiltrative or granulomatous processes, and other conditions.|A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions. |
| Congenital central hypoventilation syndrome | disease cluster belonging to disease group developmental |
| Tularemia | A primary bacterial infectious disease that has_material_basis_in Francisella tularensis, which is transmitted_by dog tick bite (Dermacentor variabilis), transmitted_by deer flies (Chrysops sp) or transmitted_by contact with infected animal tissues. |
| Collagenous colitis | |
| Werdnig-Hoffmann disease | OMIM mapping confirmed by DO. [SN]. |
| Chronic progressive external ophthalmoplegia | |
| Leukocyte adhesion deficiency 1 | |
| Birt-Hogg-Dube syndrome | OMIM mapping confirmed by DO. [SN]. |
| Neonatal period electroclinical syndrome | An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age. |
| Iron deficiency anemia | |
| Patent foramen ovale | |
| Frontometaphyseal dysplasia | Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss. |
| maturity-onset diabetes of the young type 4 | |
| Oculopharyngeal muscular dystrophy | OMIM mapping confirmed by DO. [SN]. |
| Toxic shock syndrome | A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus , which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities. |
| Nonepidermolytic palmoplantar keratoderma | A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles. |
| Myofibrillar myopathy | Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins. |
| Trichohepatoenteric syndrome | |
| Ethmoid sinusitis | A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead. |
| Band keratopathy | OMIM mapping confirmed by DO. [SN]. |
| Colonic benign neoplasm | An intestinal benign neoplasm that is located_in the colon. |
| Ankylosing spondylitis | A bone inflammation disease that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage. |
| Bubonic plague | A plague that results_in infection located_in lymph node producing a bubo, which is an inflamed, necrotic, and hemorrhagic lymphoid tissue. The infection has_symptom enlarged, tender lymph nodes, has_symptom fever, has_symptom chills and has_symptom prostration. |
| Charcot-Marie-Tooth disease type 1A | |
| Charcot-Marie-Tooth disease type 2 | |
| Asbestosis | A pneumoconiosis caused by inhalation and retention of asbestos fibers. |
| Anorexia nervosa | An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image. |
| Familial woolly hair syndrome | |
| Leishmaniasis | Leishmaniasis is a disease caused by protozoan parasites that belong to the genus Leishmania and is transmitted by the bite of certain species of sand fly (subfamily Phlebotominae). |
| Brain edema | |
| Pontocerebellar hypoplasia | |
| Anomalous left coronary artery from the pulmonary artery | |
| Chondrodysplasia punctata | |
| Hereditary spherocytosis | A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape. |
| Pulmonary aspergilloma | An aspergillosis that presents as a clump of tangled mass of Aspergillus fungus fibres, blood clots, and white blood cells, which exists in the cavities of the lungs that develop in an area of previous lung disease or lung scarring. |
| Primary systemic mycosis | A systemic mycosis that results_in infection located_in human body, has_material_basis_in Fungi, which can overcome the physiological and cellular defences of the normal human host. The primary deep pathogens usually gain access to the host via the respiratory tract. |
| Neurohypophyseal diabetes insipidus | OMIM mapping confirmed by DO. [SN]. |
| Papilloma | A cell type benign neoplam that is composed_of epithelial tissue on papillae of vascularized connective tissue. |
| Complement deficiency | A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation. |
| WHIM syndrome | WHIM (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasionnal hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma). |
| Language disorder | A communication disorder that involves the processing of linguistic information. |
| Childhood spinal muscular atrophy | |
| Autosomal dominant vitreoretinochoroidopathy | |
| Epstein-Barr virus infectious disease | |
| Erythema nodosum | An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral. |
| Serum amyloid A amyloidosis | |
| Familial adenomatous polyposis 3 | |
| Semantic dementia | |
| Andersen-Tawil syndrome | A long QY syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly. |
| Sideroblastic anemia | An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes). |
| Avian influenza | An influenza that results_in infection located_in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted_by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress. |
| Pulmonary sarcoidosis | |
| Central diabetes insipidus | |
| Farber lipogranulomatosis | OMIM mapping confirmed by DO. [SN]. |
| Sotos syndrome | An autosomal recessive disease that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life. |
| Bartter disease type 1 | |
| Recessive dystrophic epidermolysis bullosa | |
| Focal segmental glomerulosclerosis | A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE. |
| Erythropoietic protoporphyria | An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue. |
| Sialadenitis | |
| Autosomal dominant hypocalcemia | |
| Lymphoproliferative syndrome | |
| Acute kidney failure | |
| Multiple endocrine neoplasia type 2A | An autosomal dominant disease characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis. |
| Retinitis pigmentosa 32 | |
| Familial adenomatous polyposis 2 | |
| gamma-glutamyl transpeptidase deficiency | |
| Milk allergy | |
| Acute pyelonephritis | |
| Pyoderma | Pyoderma is a skin infectious disease where the infection is pyogenic causing the formation of pus. |
| Congenital bile acid synthesis defect 5 | |
| Centronuclear myopathy | A myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery. |
| Melioidosis | A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain. |
| Congenital structural myopathy | |
| 3-methylcrotonyl-CoA carboxylase deficiency | An amino acid metabolic disorder that has_material_basis_in mutations in the MCCC1 and MCCC2 genes causing inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy. |
| Nicotine dependence | |
| Acute ethmoiditis | |
| Warfarin sensitivity | |
| Bronchiectasis 3 | |
| VACTERL association | A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. |
| Peripheral nerve sheath neoplasm | A peripheral nervous system neoplasm that is located_in the connective tissue surrounding nerves. |
| X-linked chronic granulomatous disease | |
| T cell deficiency | |
| Pulmonary alveolar microlithiasis | OMIM mapping confirmed by DO. [SN]. |
| Cortisone reductase deficiency | |
| Familial partial lipodystrophy | A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. |
| Glomerulosclerosis | A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney. |
| Cutaneous porphyria | OMIM mapping confirmed by DO. [SN]. |
| Laryngeal disease | |
| Childhood electroclinical syndrome | An electroclinical syndrome with onset in childhood between one and 12 years of age. |
| Spermatogenic failure 10 | |
| Migraine with aura | A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon. |
| Chickenpox | A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters. |
| Paramyotonia congenita of Von Eulenburg | |
| Behcet's disease | A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis. |
| Cystitis | |
| Holoprosencephaly 3 | |
| Calcinosis | A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue. |
| Retinitis pigmentosa 45 | |
| Glutaric acidemia I | |
| Autosomal recessive spinocerebellar ataxia 16 | |
| Neuronal ceroid lipofuscinosis 7 | |
| Brucellosis | A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue. |
| Human papillomavirus infectious disease | |
| Oral candidiasis | A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes. |
| Thymus cancer | An immune system cancer located_in the thymus. |
| Paratyphoid fever | A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly. |
| Mucositis | |
| Chronic fatigue syndrome | A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions. |
| Thymus gland disease | |
| Overactive bladder syndrome | |
| Lung abscess | |
| Transient neonatal diabetes mellitus | A neonatal diabetes mellitus characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients. |
| Jacobsen Syndrome | Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. |
| Cornelia de Lange syndrome | A genetic disease that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features. |
| Folliculitis | |
| Immunodeficiency 14 | |
| Aortic aneurysm | An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size. |
| Hypophosphatemia | |
| non-arteritic anterior ischemic optic neuropathy | |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | |
| Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | |
| Hypohidrotic ectodermal dysplasia | A monogenic disease that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). |
| Scrapie | |
| Autoimmune lymphoproliferative syndrome | A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen. |
| Hemorrhagic disease | |
| Rabies | A viral infectious disease that results_in inflammation located_in brain or located_in spinal cord, has_material_basis_in Rabies virus, which is transmitted_by bite of an infected animal, or transmitted_by contact of mucous membranes with saliva of an infected animal. The infection has_symptom fever, has_symptom headache, has_symptom prickling or itching sensation at the site of bite, has_symptom anxiety, has_symptom confusion, has_symptom agitation, has_symptom delirium, has_symptom difficulty swallowing, has_symptom hydrophobia, and has_symptom paralysis. |
| Neurofibroma | A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands. (From Adams et al., Principles of Neurology, 6th ed, p1016)|An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors.|A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands (MeSH). |
| Choreatic disease | A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next. |
| Amyotrophic lateral sclerosis type 1 | The most common type of familial ALS caused_by mutation located_in SOD1 gene located in chromosome 21. |
| Trypanosomiasis | A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans. |
| Mature B-cell neoplasm | |
| Duodenitis | |
| Familial cold autoinflammatory syndrome | |
| Iron metabolism disease | |
| Episodic ataxia type 1 | Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia. |
| Intrahepatic cholestasis of pregnancy 3 | |
| Primary progressive aphasia | Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD; see this term) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA) (see these terms). |
| Pemphigus | |
| Peroxisome biogenesis disorder 3A | |
| Long QT syndrome 3 | |
| Specific language impairment | |
| Dyschromatosis universalis hereditaria | |
| Endolymphatic hydrops | |
| Familial hemiplegic migraine | A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness. |
| Gastroesophageal cancer | disease cluster belonging to disease group cancer |
| Arterial tortuosity syndrome | A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta. |
| Telangiectasis | |
| Motor peripheral neuropathy | |
| Secondary hypertrophic osteoarthropathy | |
| Cellulitis | |
| Immunoglobulin light chain amyloidosis | |
| Multiple synostoses syndrome 1 | |
| Hereditary diffuse gastric cancer | |
| Coccidiosis | A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection. |
| Autosomal dominant limb-girdle muscular dystrophy type 1 | |
| Temple syndrome | |
| Duodenum cancer | A small intestine cancer that is located_in the beginning section of the small intestine. |
| Muckle-Wells syndrome | |
| Methylmalonic aciduria and homocystinuria type cblD | |
| Allan-Herndon-Dudley syndrome | An X-linked disease that is caused by mutation in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement. |
| Ampulla of Vater carcinoma | An ampulla of Vater cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| Favism | |
| multidrug-resistant tuberculosis | A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs. |
| Parasitic Ichthyosporea infectious disease | A parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals. |
| Rhinosporidiosis | A parasitic Ichthyosporea infectious disease that is a chronic granulomatous infection of the mucous membranes caused by the parasite Rhinosporidium seeberi, which manifests as vascular friable polyps that arise from the nasal mucosa or external structures of the eye. Disease of the skin, mouth, upper airways, ear, genitals, and rectum has also been observed. |
| Noma | |
| GNE myopathy | |
| Childhood B-cell acute lymphoblastic leukemia | |
| Granulomatosis with polyangiitis | |
| Classic galactosemia | |
| Sialolithiasis | |
| Primary microcephaly | |
| Otopalatodigital syndrome spectrum disorder | |
| Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | |
| Cerebrotendinous xanthomatosis | A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma. |
| Severe congenital neutropenia | A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections. |
| Dyggve-Melchior-Clausen disease | Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias (see this term). |
| Meniere's disease | A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss. |
| Peripheral vertigo | |
| Infective endocarditis | An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents. |
| Charcot-Marie-Tooth disease type 1E | |
| Peroxisome biogenesis disorder 8B | |
| Oculodentodigital dysplasia | NT MGI. |
| thiamine-responsive megaloblastic anemia syndrome | Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness. |
| Spermatogenic failure 14 | |
| Lung occult small cell carcinoma | |
| Chorioamnionitis | A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection. |
| Shigellosis | A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces. |
| Smith-McCort dysplasia | An osteochondrodysplasia characterized by short limbs and a short trunk with a barrel-shaped chest and caused_by homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q. |
| Zollinger-Ellison syndrome | A syndrome that is haracterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach. |
| Thymoma | A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus. |
| Familial melanoma | |
| Ampulla of Vater cancer | |
| Cholecystolithiasis | |
| Tracheal stenosis | |
| Terminal osseous dysplasia | |
| Occupational asthma | |
| B-cell acute lymphoblastic leukemia | A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called precursor B lymphoblastic leukemia (B-cell acute lymphoblastic leukemia). When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001) -- 2003 |
| Environmental induced asthma | |
| Cerebellar hypoplasia | Underdevelopment of the cerebellum. |
| Pancytopenia | |
| Fanconi-like syndrome | |
| Aromatic L-amino acid decarboxylase deficiency | |
| motility-related diarrhea | |
| Multisystem inflammatory syndrome in children | |
| Disseminated intravascular coagulation | |
| Hemolytic disease of the fetus | |
| Chlamydia | |
| Smith-Magenis syndrome | Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay. |
| Uveitis | |
| Primary thrombocytopenia | |
| Anogenital venereal wart | A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, and throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts. |
| Expressive language disorder | A language disorder that involves difficulties with verbal and written expression characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a language comprehension that is within normal limits. |
| Parathyroid gland benign neoplasm | |
| Parathyroid adenoma | |
| Dicarboxylic aminoaciduria | |
| Early infantile epileptic encephalopathy | |
| Kwashiorkor | |
| Autosomal dominant nonsyndromic deafness | A nonsyndromic deafness characterized by an autosomal dominant inheritance mode. |
| Hyperlucent lung | |
| Autosomal recessive limb-girdle muscular dystrophy type 2C | |
| Meningocele | |
| Vitiligo | A disorder consisting of areas of macular depigmentation, commonly on extensor aspects of extremities, on the face or neck, and in skin folds. Age of onset is often in young adulthood and the condition tends to progress gradually with lesions enlarging and extending until a quiescent state is reached. |
| Idiopathic generalized epilepsy | An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain. |
| Aicardi-Goutieres syndrome | An autosomal recessive disease that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections. |
| Toxic megacolon | |
| Schistosomiasis | A parasitic helminthiasis infectious disease that involves infection of the intestine, urinary tract, skin, liver and spleen caused by multiple species of the trematode fluke of the genus Schistosoma. The symptoms include fever, chills, nausea, abdominal pain, diarrhea, malaise, myalgia, liver and spleen enlargement, rash and hematuria. |
| Autosomal recessive osteopetrosis 3 | |
| Robinow syndrome | A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. |
| Benign recurrent intrahepatic cholestasis 1 | |
| Prostatitis | Infiltration of inflammatory cells into the parenchyma of PROSTATE. The subtypes are classified by their varied laboratory analysis, clinical presentation and response to treatment. |
| Alkaptonuria | An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct. |
| Autoimmune polyendocrine syndrome | An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. |
| Chronic mucocutaneous candidiasis | A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp. |
| Huntington's disease-like 1 | |
| Partial lipodystrophy | |
| Ileocolitis | |
| Acute salpingitis | |
| Amebiasis | A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs. |
| Melnick-Needles syndrome | |
| Pulmonary immaturity | |
| maturity-onset diabetes of the young type 13 | |
| Hemorrhoid | A pelvic varix disease characterized by swollen, inflamed veins around the anus or lower rectum. |
| Ampulla of Vater adenocarcinoma | An ampulla of Vater carcinoma that derives_from epithelial cells of glandular origin. |
| Vesicoureteral reflux | A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter. |
| NGLY1-deficiency | |
| Edwards syndrome | OMIM mapping confirmed by DO. [LS]. |
| Vasomotor rhinitis | A rhinitis which involves a hypersensitive reaction to various potentially irritating stimuli such as changes in weather, temperature, or barometric pressure, chemical irritants such as smoke, ozone, pollution, perfumes, and aerosol sprays, psychological stress and emotional shocks, medications, alcohol, and spicy food. |
| Inverted papilloma | |
| Cardiac tuberculosis | |
| Psoriatic arthritis | A syndrome that occurs in humans with psoriasis who also experience symptoms similar to arthritis. |
| Hypokalemic periodic paralysis | OMIM mapping confirmed by DO. [SN]. |
| Nail disease | An integumentary system disease that is located_in nail. |
| Otorrhea | |
| Pericarditis | A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain. |
| Infantile liver failure syndrome | |
| Aortic valve disease | Updating out dated UMLS CUI. |
| Juvenile polyposis syndrome | An autosomal dominant disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum. |
| Paralytic ileus | |
| Diffuse gastric cancer | disease cluster belonging to disease group cancer |
| Retinitis pigmentosa 4 | |
| Diverticulitis | |
| carnitine-acylcarnitine translocase deficiency | Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy. |
| Emery-Dreifuss muscular dystrophy | A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle. |
| Cryptosporidiosis | A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection. |
| Cyclic hematopoiesis | OMIM mapping confirmed by DO. [SN]. |
| Autoimmune thrombocytopenic purpura | A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies. |
| Chronic ethmoiditis | A ethmoid sinusitis which lasts for 12 weeks or more. |
| Histoplasmosis | A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains. |
| Charcot-Marie-Tooth disease type 4 | Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. |
| Familial partial lipodystrophy type 2 | |
| Hereditary hemorrhagic telangiectasia | An autosomal dominant disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins. |
| adolescence-adult electroclinical syndrome | An electroclinical syndrome with onset in adolescence and adulthood. |
| Omenn syndrome | A combined T cell and B cell immunodeficiency that is an autosomal recessive immunodeficiency associated with mutations in the recombination activating genes (RAG1 and RAG2), affecting circulating levels of both B-cells and T-cells. |
| Gilles de la Tourette syndrome | A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year. |
| Mucopolysaccharidosis type IIIC | |
| Budd-Chiari syndrome | |
| Cryptococcosis | An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii. |
| Coccidioidomycosis | A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules. |
| Peptic esophagitis | |
| Autoimmune disease of peripheral nervous system | An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system. |
| Kearns-Sayre syndrome | OMIM mapping confirmed by DO. [SN]. |
| Bacterial sepsis | |
| Kidney benign neoplasm | |
| Autosomal recessive congenital ichthyosis 11 | |
| Eosinophilic pneumonia | A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night. |
| Active peptic ulcer disease | |
| Female breast cancer | |
| Lysinuric protein intolerance | Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism. |
| Nevoid basal cell carcinoma syndrome | OMIM mapping confirmed by DO. [SN]. |
| Rubella | A viral infectious disease that results_in infection located_in skin, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom rash on the face which spreads to the trunk and limbs, has_symptom fever, has_symptom lymphadenopathy, has_symptom joint pains, has_symptom headache, and has_symptom conjunctivitis. |
| Spermatogenic failure 15 | |
| neonatal-onset type II citrullinemia | |
| Christianson syndrome | Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures. |
| Hyperprolinemia | An increased concentration of proline in the blood. |
| Punctate epithelial keratoconjunctivitis | |
| Gonorrhea | A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods. |
| Leber congenital amaurosis with early-onset deafness | |
| Vohwinkel syndrome | |
| Centronuclear myopathy X-linked | |
| West Nile encephalitis | A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in West Nile virus, which is transmitted_by Culex, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis. |
| Focal dystonia | A dystonia that is localized to a specific part of the body. |
| Spontaneous tension pneumothorax | |
| Asphyxiating thoracic dystrophy | OMIM mapping confirmed by DO. [SN]. |
| Mastitis | |
| Eosinophilic gastroenteritis | |
| Alexander disease | A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes. |
| DNA ligase IV deficiency | A combined T cell and B cell immunodeficiency that is caused by a mutatino in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay. |
| Acanthosis nigricans | OMIM mapping confirmed by DO. [SN]. |
| Superficial mycosis | A fungal infectious disease that results_in infection of the outermost layer located_in skin or located_in hair shaft, has_material_basis_in Fungi. No living tissue is invaded and there is no cellular response from the host. |
| Apraxia | An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities. |
| Purpura | |
| Chagas disease | A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis. |
| Mucormycosis | |
| Cutaneous mycosis | A fungal infectious disease that results_in infection of the keratinized layers located_in skin, located_in hair or located_in nail, which extends deeper into the epidermis, has_material_basis_in Fungi and results_in_formation_of skin lesions. |
| Dermatophytosis | A cutaneous mycosis that results_in fungal infection located_in scalp, located_in glabrous skin, or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which have the ability to utilize keratin as a nutrient source. |
| Vulvovaginal candidiasis | A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge. |
| Tinea pedis | A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot. |
| Fungal meningitis | |
| Cryptococcal meningitis | |
| Fusariosis | An opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by Fusarium solani or Fusarium oxysporum. Skin lesions are seen in neutropenic patients, and indolent cellulitis or soft-tissue necrosis occur in immunocompromised patients at the site of trauma. |
| Sleeping sickness | A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances. |
| Visceral leishmaniasis | A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver. |
| Tinea cruris | A dermatophytosis that results_in fungal skin infection located_in groin, located_in perineum, or located_in perianal region, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching in groin, thigh skin folds, or anus and results_in_formation_of rash which appears as raised red plaques (platelike areas) and scaly patches with sharply defined borders that may blister and ooze. |
| Dermatomycosis | A cutaneous mycosis that results_in fungal infection located_in skin or of its appendages, has_material_basis_in Ascomycota fungi other than the dermatophytes. |
| Esophageal candidiasis | A candidiasis that involves fungal infection of the esophagus by Candida albicans in immunocompromised people, resulting in lesions, bleeding, painful swallowing and substernal pain. |
| Eumycotic mycetoma | A dermatomycosis that effects skin and subcutaneous tissue located_in foot, located_in trunk, located_in buttocks, located_in eyelids, located_in lacrimal glands, located_in paranasal sinuses, located_in mandible, located_in scalp, located_in neck, located_in perineum, or located_in testes and has_symptom sinus discharge and results_in_formation_of nodules. |
| Sporotrichosis | A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation. |
| Blastomycosis | A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening. |
| Cutaneous leishmaniasis | A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions. |
| Tinea capitis | A dermatophytosis that results_in contagious fungal infection located_in scalp, located_in hair of head, located_in eyebrow or located_in eyelash, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching of the scalp, has_symptom pus filled lesions on the scalp, and has_symptom patches of hair loss, sometimes with a 'black dot' pattern. |
| Primary amebic meningoencephalitis | A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma. |
| Tinea corporis | A dermatophytosis that results_in fungal infection located_in skin, limited to the stratum corneum of the epidermis, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, and has_symptom red colored skin rash. The border of the rash lesions look scaly. |
| Tinea unguium | A dermatophytosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which cause separation of the nail plate from the nail bed and has_symptom thickening of subungueal area. Sometimes, white islands are seen on the external nail plates. These gradually coalesce until the entire nail plate is involved. |
| Granulomatous amebic encephalitis | A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death. |
| Mucocutaneous leishmaniasis | A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa. |
| Dehydrated hereditary stomatocytosis 1 | |
| Meningoencephalitis | A central nervous system disease that involves encephalitis which occurs along with meningitis. |
| Endophthalmitis | A globe disease that is characterized by inflammation of the inside of the eye. |
| Globe disease | |
| Pityriasis versicolor | A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales. |
| Cutaneous candidiasis | |
| Vaginitis | |
| Phaeohyphomycosis | A primary systemic mycosis located_in subcutaneous tissues, located_in brain, located_in sinuses, located_in lungs, or located_in peritoneal cavity, has_material_basis_in Exophiala dermatitidis, has_material_basis_in Phialophora, has_material_basis_in Bipolaris hawaiiensis, has_material_basis_in Exserohilum, has_material_basis_in Cladophialophora bantiana, has_material_basis_in Phaeoannellomyces, has_material_basis_in Aureobasidium, has_material_basis_in Cladosporium cladosporoides, has_material_basis_in Alternaria or has_material_basis_in Rhinocladiella mackenziei and results_in_formation_of subcutaneous abscesses arising at the site of minor trauma, and occur in both immunosuppressed and immunocompetent individuals. |
| Paracoccidioidomycosis | A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis. |
| Greenberg dysplasia | |
| CK syndrome | |
| Seborrheic dermatitis | A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss. |
| Megaesophagus | |
| Periostitis | |
| Otitis externa | An external ear disease that involves inflammation of the outer ear and ear canal. It can be caused by active bacterial or fungal infection. |
| External ear disease | |
| Otomycosis | A otitis externa which is a disease of the ear produced by the growth of fungi in the external auditory canal. It is characterized by inflammation, pruritus, scaling and severe discomfort. The most common fungi are Aspergillus niger and Candida albicans. |
| Vulvovaginitis | |
| Tinea manuum | A dermatophytosis that results_in fungal skin infection located_in hand, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, has_symptom burning, has_symptom cracking, and has_symptom scaling. |
| Trichosporonosis | An opportunistic mycosis that results_in disseminated infection, has_material_basis_in Trichosporon and results_in_formation_of nontender erythematous nodules anywhere on the body. |
| Tinea profunda | A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton mentagrophytes and results_in_formation_of subcutaneous abscesses. |
| Cavernous sinus thrombosis | |
| Corneal ulcer | |
| White piedra | A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Trichosporon beigelii. Infected hairs develop soft greyish-white nodules along the shaft. |
| Pneumocystosis | An opportunistic mycosis that is located_in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has_symptom nonproductive cough, has_symptom shortness of breath, and has_symptom fever. |
| Penicilliosis | An opportunistic mycosis that has_material_basis_in Penicillium marneffei, results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions. |
| Hypopyon | |
| Conidiobolomycosis | An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions. |
| Familial isolated hypoparathyroidism | |
| Orbital cellulitis | |
| Acute orbital inflammation | |
| FG syndrome | An X-linked disease characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern. |
| Deep keratitis | |
| Adrenal carcinoma | An adrenal cancer that is located_in the cortex (steroid hormone-producing tissue) of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| Intracranial sinus thrombosis | |
| Renal glycosuria | OMIM mapping confirmed by DO. [SN]. |
| Actinomycosis | A commensal bacterial infectious disease that results_in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures. |
| Vaginal discharge | |
| Pleural empyema | A soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. The symptoms include cough, fever, chest pain, sweating and shortness of breath. |
| estrogen-receptor positive breast cancer | |
| Cranial nerve palsy | |
| Dracunculiasis | A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection. |
| Cutaneous diphtheria | A pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with Corynebacterium diphtheriae as the bacteria releases the diphtheria toxin. |
| Chorioretinitis | |
| Pelger-Huet anomaly | OMIM mapping confirmed by DO. [SN]. |
| Sclerosing keratitis | |
| Yaws | A primary bacterial infectious disease that results_in infection located_in skin, located_in joint or located_in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted_by direct skin contact with an infected person. The infection has_symptom skin lesions. |
| Adiaspiromycosis | A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in Chrysosporium parvum or Emmonsia crescens. |
| non-alcoholic fatty liver | |
| Pontocerebellar hypoplasia type 16 | |
| Iridocyclitis | |
| Bacterial vaginosis | A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis. |
| Chronic meningitis | |
| Filariasis | A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea. |
| Viral esophagitis | |
| Adrenal rest tumor | |
| Neuroaspergillosis | |
| alopecia-mental retardation syndrome | |
| Filarial elephantiasis | |
| Tinea barbae | A dermatophytosis that results_in fungal infection which effects horny layer of epidermis of the bearded areas located_in face or located_in neck, has_material_basis_in Trichophyton mentagrophytes or has_material_basis_in Trichophyton verrucosum, which also effects hair, and effects nail and has_symptom inflammatory kerion-like plaques, and results_in_formation_of noninflammatory superficial perifollicular pustules. |
| Toxoplasmosis | A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia. |
| Erythema multiforme | A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness. |
| Tinea nigra | A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions. |
| Anterior uveitis | |
| Foster-Kennedy syndrome | |
| Nance-Horan syndrome | |
| Toxic optic neuropathy | |
| Gas gangrene | A commensal bacterial infectious disease that results_in infection, located_in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has_symptom large blisters, has_symptom pain in the infected area, has_symptom myonecrosis, has_symptom gas production, and has_symptom sepsis. |
| Discitis | |
| Mitochondrial DNA depletion syndrome 6 | |
| Warfarin resistance | |
| Hyperphosphatasia with impaired intellectual development syndrome | |
| Schnyder corneal dystrophy | |
| Trichomoniasis | A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively. |
| Ophthalmoplegia | |
| Cloacal exstrophy | |
| Panuveitis | |
| Balanitis | |
| Pallister-Hall syndrome | OMIM mapping confirmed by DO. [SN]. |
| Infant botulism | A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness. |
| Bacterial meningitis | |
| Onchocerciasis | A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy. |
| Dehydrated hereditary stomatocytosis | |
| triple-A syndrome | OMIM mapping confirmed by DO. [SN]. |
| Hepatocellular adenoma | A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use. |
| Intracranial abscess | |
| Liver benign neoplasm | |
| Scleritis | |
| Scleral disease | |
| Autoimmune myocarditis | |
| Senile cataract | |
| Serine deficiency | An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine. |
| Hepatobiliary benign neoplasm | A gastrointestinal system benign neoplasm located_in the hepatobiliary system. |
| Ehrlich tumor carcinoma | |
| Holoprosencephaly 9 | |
| Mature cataract | |
| Angular cheilitis | |
| Corneal abscess | |
| Erythrasma | |
| Galloway-Mowat syndrome 1 | |
| Mevalonic aciduria | OMIM mapping confirmed by DO. [SN]. |
| Preterm premature rupture of the membranes | |
| Theileriasis | A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks. |
| Pontocerebellar hypoplasia type 2D | NT MGI. |
| Intracranial thrombosis | |
| Immunodeficiency 13 | |
| Lichen planus | A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes. The cause is not known. |
| Lichen disease | |
| Rosacea | |
| Roberts syndrome | OMIM mapping confirmed by DO. [SN]. |
| hyperferritinemia-cataract syndrome | |
| Autosomal recessive intellectual developmental disorder | |
| cholesterol-ester transfer protein deficiency | |
| Excessive tearing | |
| Salpingitis | |
| RIDDLE syndrome | |
| Seckel syndrome | An autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability. |
| Isolated growth hormone deficiency type IA | |
| Ovarian clear cell carcinoma | |
| Burkitt lymphoma | A mature B-cell neoplasm of B-cells found in the germinal center. |
| Idiopathic generalized epilepsy 4 | |
| Parkinson's disease 4 | |
| Seckel syndrome 6 | |
| Rothmund-Thomson syndrome | OMIM mapping confirmed by DO. [SN]. |
| Joubert syndrome 15 | |
| Nephronophthisis 15 | |
| Cervical squamous cell carcinoma | A cervix carcinoma that has_material_basis_in squamous cells of the cervix. |
| Isolated growth hormone deficiency | |
| Brain glioma | A brain cancer that has_material_basis_in glial cells. |
| Brooke-Spiegler syndrome | OMIM mapping confirmed by DO. [SN]. |
| Ciliary body disease | |
| Congenital stromal corneal dystrophy | Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss. |
| Seckel syndrome 5 | |
| Seckel syndrome 2 | |
| Larynx cancer | A respiratory system cancer that is located_in the larynx. |
| Laryngeal squamous cell carcinoma | A laryngeal carcinoma that has_material_basis_in squamous cells. |
| Simpson-Golabi-Behmel syndrome type 2 | |
| Cecum adenocarcinoma | A cecum carcinoma that derives_from epithelial cells of glandular origin. |
| Malignant pleural mesothelioma | A pleural cancer that has_material_basis_in mesothelium cells. |
| Pleural cancer | A connective tissue cancer that located_in the pleura. |
| Laryngeal carcinoma | A larynx cancer that has_material_basis_in epithelial cells. |
| Endocervical adenocarcinoma | |
| Pancreatic ductal carcinoma | A pancreatic carcinoma located_in the pancreatic duct. |
| Endocervical carcinoma | |
| Prolymphocytic leukemia | |
| Pulmonary interstitial emphysema | |
| Cecum carcinoma | A cecum cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| Cockayne syndrome | An autosomal recessive disease that is caused by rare mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. |
| Gastroesophageal adenocarcinoma | |
| Sezary's disease | |
| Stromal dystrophy | |
| Plasmablastic lymphoma | |
| Chronic myelomonocytic leukemia | A myelodysplastic-myeloproliferative disease characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood. |
| Inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 | |
| Cecum cancer | A large intestine cancer that is located_in the cecum. |
| Skin papilloma | |
| Usher syndrome type 3B | |
| Developmental and epileptic encephalopathy 3 | |
| Hyperekplexia 3 | |
| Pyrimidine metabolic disorder | |
| Usher syndrome type 3 | |
| Scleromalacia perforans | |
| Retinitis pigmentosa 68 | |
| Inflammatory bowel disease 25 | |
| Orotic aciduria | A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine. |
| Olecranon bursitis | |
| Foveal hypoplasia 2 | |
| Borderline leprosy | A leprosy that results in small numerous red irregularly shaped plaques. |
| Dihydropyrimidinase deficiency | |
| Meckel's diverticulum | OMIM mapping confirmed by DO. [SN]. |
| Median arcuate ligament syndrome | |
| Mahvash Disease | |
| Dyschromatosis symmetrica hereditaria | A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities. |
| Charcot-Marie-Tooth disease type 2B2 | |
| Indeterminate leprosy | A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules. |
| Episodic ataxia type 6 | Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia (see this term) with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia. |
| Deprivation amblyopia | |
| Lepromatous leprosy | A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas. |
| Methylmalonic aciduria and homocystinuria type cblC | A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase. |
| hypotonia-cystinuria syndrome | |
| Acute endometritis | |
| McCune Albright syndrome | An autosomal dominant disease that involves skin pigmentation, bone and hormonal problems along with premature puberty. It is caused by mutations in the GNAS1 gene. |
| Ornithine translocase deficiency | An amino acid metabolic disorder that has_material_basis in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood. |
| Adermatoglyphia | |
| Mandibulofacial dysostosis, Guion-Almeida type | |
| Myxofibrosarcoma | |
| Autosomal dominant distal hereditary motor neuronopathy 2 | |
| Peripartum cardiomyopathy | |
| Babesiosis | A parasitic protozoa infectious disease that has_symptommild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease. |
| Autosomal dominant distal hereditary motor neuronopathy | |
| Charcot-Marie-Tooth disease axonal type 2F | |
| Cataract 9 multiple types | |
| Cerebral amyloid angiopathy | An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia. |
| Charcot-Marie-Tooth disease axonal type 2L | |
| Myofibrillar myopathy 6 | |
| Autosomal dominant distal hereditary motor neuronopathy 4 | |
| Ascaridiasis | A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia. |
| Myofibrillar myopathy 2 | |
| Echinococcosis | A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys. |
| APP-related cerebral amyloid angiopathy | |
| Dilated cardiomyopathy 1EE | |
| Restrictive cardiomyopathy | Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness. |
| Myofibrillar myopathy 5 | |
| Long QT syndrome 11 | |
| Aortic valve stenosis | An aortic valve disease that has_physical_basis_in incomplete opening of the aortic valve. |
| Alveolar echinococcosis | An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain. |
| Omsk hemorrhagic fever | |
| Niemann-Pick disease type C2 | |
| Hymenolepiasis | A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness. |
| Subepithelial mucinous corneal dystrophy | |
| Myofibrillar myopathy 1 | |
| Myocardial stunning | |
| Cysticercosis | A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions. |
| Taeniasis | A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted_by ingestion of undercooked contaminated meat. |
| Hypertrophic cardiomyopathy 13 | |
| Brain infarction | |
| Tick infestation | A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice. |
| Peripheral artery disease | An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs. |
| Troyer syndrome | A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene. |
| Hereditary spastic paraplegia 12 | |
| Cystic echinococcosis | An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected. |
| Oculopharyngodistal myopathy | |
| Siberian tick typhus | |
| Intermediate coronary syndrome | |
| Carpal tunnel syndrome 1 | |
| Contagious pustular dermatitis | A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus, which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis. |
| Cerebral infarction | |
| Fatal infantile hypertonic myofibrillar myopathy | |
| Myofibrillar myopathy 3 | |
| SHORT syndrome | |
| Familial hypertrophic cardiomyopathy | |
| Relapsing fever | A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia, which is transmitted_by tick or transmitted_by body louse. |
| Parasitic ectoparasitic infectious disease | A parasitic infectious disease that is caused by organisms that live primarily on the surface of the host. |
| Finnish type amyloidosis | OMIM mapping confirmed by DO. [SN]. |
| tick-borne encephalitis | A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus, which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. |
| Rocky Mountain spotted fever | A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash. |
| Q fever | A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia. |
| Systolic heart failure | |
| Limb ischemia | |
| Hypertensive heart disease | A heart disease that is caused by high blood presure. |
| Multisystem proteinopathy | |
| Autosomal dominant limb-girdle muscular dystrophy | |
| tick-borne relapsing fever | A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material basis_in Borrelia hermsii, has_material basis_in Borrelia parkeri or has_material basis_in Borrelia duttoni, which are transmitted_by soft ticks (Ornithodoros parkeri and Ornithodoros hermsii). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy. |
| Spotted fever | A primary bacterial infectious disease that results_in infection, located_in endothelial cell of artery or located_in endothelial cell of vein, has_material_basis_in Rickettsia, which is transmitted_by ticks and mites. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom muscle aches, and has_symptom maculopapular or petechial rash. A distinctive eschar (blackened or crusted skin) may develop at the site of a tick bite. |
| Coronary stenosis | |
| Hereditary spastic paraplegia 31 | |
| Neuronal ceroid lipofuscinosis 13 | |
| Kyasanur forest disease | A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Kyasanur forest disease virus, which is transmitted_by Haemaphysalis spinigera tick bite. The infection has_symptom fever, has_symptom headache, has_symptom stiffness of the neck, has_symptom severe muscle pain, has_symptom cough, has_symptom dehydration, and has_symptom bleeding problems. |
| Fallopian tube endometriosis | |
| Hereditary spastic paraplegia 4 | |
| Cerebellar ataxia type 48 | |
| Crimean-Congo hemorrhagic fever | A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo hemorrhagic fever virus, which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine. |
| Hereditary spastic paraplegia 6 | |
| Leptospirosis | A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted_by contact with water, food, or soil containing urine from the infected animals. The infection has_symptom jaundice, has_symptom chills, has_symptom fever, has_symptom muscle pain, and has_symptom hepatomegaly. |
| Diastolic heart failure | |
| Congenital toxoplasmosis | A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur. |
| Charcot-Marie-Tooth disease type 4G | Charcot-Marie-Tooth disease, type 4G (CMT4G) is a demyelinating CMT peripheral sensorimotor polyneuropathy. |
| Hypotrichosis 1 | |
| Cyclosporiasis | A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue. |
| Cerebral artery occlusion | |
| Posterior polar cataract | OMIM mapping confirmed by DO. [SN]. |
| Congenital myopathy 5 | |
| Primary cutaneous amyloidosis | An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis. |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | |
| Powassan encephalitis | |
| Chronic wasting disease | |
| Distal myopathy with rimmed vacuoles | |
| Hereditary spastic paraplegia 13 | |
| Hypochondroplasia | An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism. |
| Epithelial and subepithelial dystrophy | |
| Low tension glaucoma | |
| Charcot-Marie-Tooth disease type 4E | |
| angle-closure glaucoma | |
| Bartonellosis | |
| Oropouche fever | |
| Acute myocarditis | |
| Verrucous carcinoma | A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium. |
| Lyme disease | A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system. |
| Myofibrillar myopathy 9 | |
| Carpal tunnel syndrome | OMIM mapping confirmed by DO. [SN]. |
| Buruli ulcer disease | A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin. |
| Acrodysostosis | A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency. |
| Charcot-Marie-Tooth disease type 2I | |
| Ehrlichiosis | A primary bacterial infectious disease that results_in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone start stick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash. |
| Sensory peripheral neuropathy | A peripheral neuropathy that involves damage to nerves of the peripheral nervous system. |
| Wound botulism | A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted_by contact of spores with the open wounds, which then reproduce in an anaerobic environment to produce toxins. |
| Rift Valley fever | A viral infectious disease that results_in infection, has_material_basis_in Rift Valley fever virus, which is transmitted_by Aedes mosquitoes. The virus affects domestic animals (cattle, buffalo, sheep, goats, and camels) and humans. The infection has_symptom jaundice, has_symptom vomiting blood, has_symptom passing blood in the feces, has_symptom ecchymoses (caused by bleeding in the skin), has_symptom bleeding from the nose or gums, has_symptom menorrhagia and has_symptom bleeding from venepuncture sites. |
| Nerve compression syndrome | |
| louse-borne relapsing fever | A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material basis_in Borrelia recurrentis, which is transmitted_by body louse (Pediculus humanus). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy. |
| Hypertrophic cardiomyopathy 1 | |
| Long QT syndrome 5 | |
| Rheumatic heart disease | A heart valve disease that is characterized by repeated inflammation with fibrinous repair. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.It is caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. |
| Acute closed-angle glaucoma | |
| Aortic dissection | Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta. |
| Glycogen storage disease VII | OMIM mapping confirmed by DO. [SN]. |
| Charcot-Marie-Tooth disease type 1D | |
| Vertebral hypersegmentation and orofacial anomalies | |
| Juvenile ankylosing spondylitis | |
| Fibromyalgia | A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation. |
| Sarcocystosis | A coccidiosis that involves infection of the intestine and muscles of humans and animals caused by an intracellular protozoan parasite of genus Sarcocystis. The symptoms include mild fever, diarrhea, chills, vomiting, muscle swelling, erythema, muscle tenderness,cough, arthralgia, transient pruritic rashes, headache, malaise and lymphadenopathy. |
| Multiple epiphyseal dysplasia 1 | |
| Familial erythrocytosis 2 | |
| platelet-type bleeding disorder 10 | |
| CODAS syndrome | |
| Primary polycythemia | |
| Colloid adenoma | |
| Wolfram syndrome 1 | |
| Chanarin-Dorfman syndrome | |
| Polycythemia | Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume. |
| Immunodeficiency 10 | |
| T cell and NK cell immunodeficiency | |
| Pulmonary valve insufficiency | A pulmonary valve disease that occurs when the pulmonary valve is not strong enough to prevent backflow into the right ventricle. If it is secondary to pulmonary hypertension it is referred to as a Graham Steell murmur. |
| Ocular melanoma | An ocular cancer that has_material_basis_in melanocytes and is located_in the eye. |
| Pyruvate decarboxylase deficiency | A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex. |
| Complement component 4a deficiency | |
| Spinocerebellar ataxia with axonal neuropathy type 3 | |
| Respiratory system benign neoplasm | An organ system benign neoplasm that is located_in the respiratory system which extends from the nasal sinuses to the diaphragm. |
| Pulmonary valve disease | |
| Uremia | |
| Maxillary sinus squamous cell carcinoma | |
| Monocytic leukemia | |
| Renovascular hypertension | |
| Renal hypertension | |
| Congenital generalized lipodystrophy type 2 | |
| Acute kidney tubular necrosis | |
| Secondary hypertension | |
| Exocervical carcinoma | |
| Thyroid adenoma | |
| Laryngeal benign neoplasm | |
| Thiamine deficiency disease | |
| Maxillary sinus cancer | |
| Synovitis | A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling. |
| Membranous glomerulonephritis | |
| Catecholaminergic polymorphic ventricular tachycardia 2 | |
| Abdominal aortic aneurysm | An aortic aneurysm that is located_in the abdominal aorta. |
| Invasive lobular carcinoma | |
| Breast lobular carcinoma | A breast carcinoma that derives_from breast lobules (milk glands). |
| Plasmacytoma | |
| Alveolar soft part sarcoma | A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults. |
| Plasma cell neoplasm | |
| Familial visceral amyloidosis | OMIM mapping confirmed by DO. [SN]. |
| Vascular dementia | A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain. |
| Pulmonary subvalvular stenosis | |
| Chondroma | A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern. |
| Lung adenoma | |
| Legg-Calve-Perthes disease | An osteochondrosis that results_in death and fracture located_in hip joint. |
| Usher syndrome type 1 | |
| Usher syndrome type 1C | |
| Autosomal recessive nonsyndromic deafness 2 | |
| Autosomal recessive nonsyndromic deafness 12 | |
| Autosomal recessive nonsyndromic deafness 23 | |
| Usher syndrome type 1G | |
| Autosomal recessive nonsyndromic deafness 57 | |
| Usher syndrome type 1D | |
| Usher syndrome type 2D | |
| Autosomal dominant nonsyndromic deafness 36 | |
| Autosomal recessive nonsyndromic deafness 48 | |
| Autosomal recessive nonsyndromic deafness 3 | |
| Usher syndrome type 1E | |
| Autosomal recessive nonsyndromic deafness 16 | |
| Autosomal recessive nonsyndromic deafness 9 | |
| Autosomal dominant nonsyndromic deafness 25 | |
| Autosomal dominant nonsyndromic deafness 9 | |
| Autosomal recessive nonsyndromic deafness 6 | |
| Usher syndrome type 1F | |
| Usher syndrome type 3A | |
| Autosomal recessive nonsyndromic deafness 25 | |
| Y-linked deafness | |
| Autosomal recessive nonsyndromic deafness 67 | |
| Autosomal dominant nonsyndromic deafness 1 | |
| Autosomal recessive nonsyndromic deafness 31 | |
| Y-linked monogenic disease | |
| Autosomal recessive nonsyndromic deafness 17 | |
| Autosomal recessive nonsyndromic deafness 86 | |
| Usher syndrome type 1J | |
| Autosomal recessive nonsyndromic deafness 30 | |
| Autosomal dominant nonsyndromic deafness 65 | |
| Autosomal recessive nonsyndromic deafness 33 | |
| Autosomal recessive nonsyndromic deafness 22 | |
| Usher syndrome type 2C | |
| Cystoid macular edema | OMIM mapping confirmed by DO. [SN]. |
| X-linked nonsyndromic deafness | A nonsyndromic deafness characterized by an X-linked inheritance mode. |
| Autosomal recessive nonsyndromic deafness 102 | |
| Autosomal dominant nonsyndromic deafness 22 | |
| Scotoma | |
| Autosomal recessive nonsyndromic deafness 21 | |
| Autosomal recessive nonsyndromic deafness 74 | |
| Baraitser-Winter syndrome 2 | |
| Autosomal recessive nonsyndromic deafness 49 | |
| Autosomal recessive nonsyndromic deafness 28 | |
| Blue color blindness | A color blindness that is characterised by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function. |
| X-linked deafness 2 | |
| Autosomal recessive nonsyndromic deafness 77 | |
| Autosomal dominant nonsyndromic deafness 21 | |
| Leber congenital amaurosis 2 | |
| DOORS syndrome | DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. |
| Autosomal recessive nonsyndromic deafness 27 | |
| AMME complex | |
| Autosomal dominant nonsyndromic deafness 13 | |
| late-onset retinal degeneration | |
| Autosomal dominant nonsyndromic deafness 15 | |
| Otosclerosis | Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs. |
| Autosomal dominant nonsyndromic deafness 7 | |
| Immunodeficiency 41 | |
| Autosomal recessive nonsyndromic deafness 91 | |
| Autosomal dominant nonsyndromic deafness 27 | |
| Autosomal dominant nonsyndromic deafness 18 | |
| Autosomal recessive nonsyndromic deafness 18B | |
| Autosomal recessive nonsyndromic deafness 1B | |
| Perrault syndrome | |
| Autosomal recessive nonsyndromic deafness 24 | |
| Autosomal recessive nonsyndromic deafness 29 | |
| Autosomal recessive nonsyndromic deafness 39 | |
| Autosomal dominant nonsyndromic deafness 17 | |
| Autosomal recessive nonsyndromic deafness 79 | |
| Autosomal dominant nonsyndromic deafness 16 | |
| Retinal cone dystrophy 4 | |
| Autosomal dominant nonsyndromic deafness 3A | |
| Autosomal dominant nonsyndromic deafness 3B | |
| Autosomal recessive nonsyndromic deafness 103 | |
| Retinitis pigmentosa 17 | |
| Macular holes | |
| Autosomal recessive nonsyndromic deafness 8 | |
| Autosomal dominant nonsyndromic deafness 11 | |
| Autosomal recessive nonsyndromic deafness 93 | |
| Autoimmune polyendocrine syndrome type 1 | An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. |
| Autosomal dominant nonsyndromic deafness 2A | |
| Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 | |
| Autosomal recessive nonsyndromic deafness 61 | |
| Autosomal recessive nonsyndromic deafness 14 | |
| Autosomal recessive nonsyndromic deafness 63 | |
| Autosomal dominant nonsyndromic deafness 33 | |
| deafness-dystonia-optic neuronopathy syndrome | |
| Baraitser-Winter syndrome | |
| Autosomal dominant nonsyndromic deafness 41 | |
| Athabaskan brainstem dysgenesis syndrome | OMIM mapping confirmed by DO. [SN]. |
| Autosomal recessive nonsyndromic deafness 35 | |
| Fundus albipunctatus | A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. |
| Orofaciodigital syndrome I | |
| Retinitis pigmentosa 25 | |
| Developmental and epileptic encephalopathy 86 | |
| lymphoepithelioma-like thymic carcinoma | |
| Jalili syndrome | |
| Autosomal dominant nonsyndromic deafness 4A | |
| Retinitis pigmentosa 30 | |
| Autosomal dominant auditory neuropathy 1 | |
| PHARC syndrome | |
| X-linked deafness 3 | |
| Otosclerosis 3 | |
| Dominant optic atrophy plus syndrome | |
| X-linked atrophic macular degeneration | |
| Craniolenticulosutural dysplasia | |
| Demyelinating polyneuropathy | |
| Waardenburg syndrome type 2A | |
| MEHMO syndrome | |
| Autosomal recessive nonsyndromic deafness 84A | |
| Autosomal dominant nonsyndromic deafness 50 | |
| Retinitis pigmentosa 61 | |
| Tietz syndrome | Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair. |
| Autosomal recessive nonsyndromic deafness 42 | |
| Waardenburg syndrome type 3 | |
| Autosomal dominant nonsyndromic deafness 48 | |
| Erythrokeratodermia variabilis | OMIM mapping confirmed by DO. [SN]. |
| Punctate palmoplantar keratoderma type I | |
| Autosomal dominant nonsyndromic deafness 10 | |
| aminoglycoside-induced deafness | |
| Neu-Laxova syndrome 2 | |
| Glycogen storage disease IXc | |
| microcephaly, short stature, and limb abnormalities | |
| Otosclerosis 2 | |
| Senior-Loken syndrome | An autosomal recessive genetic disease characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. |
| Common variable immunodeficiency 8 | |
| Dimethylglycine dehydrogenase deficiency | Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. |
| Ritscher-Schinzel syndrome 1 | |
| Autosomal recessive nonsyndromic deafness 68 | |
| Lissencephaly 5 | |
| Familial hyperinsulinemic hypoglycemia 6 | |
| Autoimmune thyroiditis | An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues. |
| Pseudoretinitis pigmentosa | |
| Autosomal dominant nonsyndromic deafness 64 | |
| Retinitis pigmentosa 87 | |
| Autosomal dominant nonsyndromic deafness 78 | |
| Palmoplantar keratoderma-deafness syndrome | |
| Familial febrile seizures | |
| Orofaciodigital syndrome | A genetic disease that is characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system and has_material_basis_in X-linked inheritance of an OFD gene. |
| Autoimmune hemolytic anemia | An autoimmune disease of blood that is characterized by deficient red blood cells caused by auto-antibodies. |
| Jervell-Lange Nielsen syndrome | OMIM mapping confirmed by DO. [SN]. |
| Chronic interstitial cystitis | |
| drug-induced hearing loss | |
| Autosomal dominant nonsyndromic deafness 2B | |
| Congenital hypotrichosis with juvenile macular dystrophy | |
| Costello syndrome | OMIM mapping confirmed by DO. [SN]. |
| Charcot-Marie-Tooth disease, axonal type 2W | |
| Autosomal dominant nonsyndromic deafness 51 | |
| Enhanced S-cone syndrome | |
| Fukuyama congenital muscular dystrophy | OMIM mapping confirmed by DO. [SN]. |
| Warsaw breakage syndrome | |
| Otosclerosis 1 | |
| Autosomal dominant nonsyndromic deafness 40 | |
| Clouston syndrome | OMIM mapping confirmed by DO. [SN]. |
| X-linked deafness 4 | |
| Coats disease | OMIM mapping confirmed by DO. [SN]. |
| Pernicious anemia | OMIM mapping confirmed by DO. [SN]. |
| Congenital muscular dystrophy-dystroglycanopathy type A | |
| Thyroiditis | Updating to more specific UMLS_CUI from C0029495 to C0040147. |
| Hemangioma of liver | |
| Fibrochondrogenesis | |
| pseudo-TORCH syndrome 1 | |
| Autosomal recessive nonsyndromic deafness 97 | |
| PSAT deficiency | A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid. |
| Waardenburg syndrome type 4C | |
| Stiff-Person syndrome | A movement disease that is of unknown etiology characterized by progressive rigidity. |
| Neuroretinitis | |
| Autosomal dominant nonsyndromic deafness 23 | |
| Acrokeratosis verruciformis | OMIM mapping confirmed by DO. [SN]. |
| Vitreous detachment | |
| Retinal telangiectasia | |
| Schwannomatosis 2 | |
| Interstitial nephritis | |
| Vestibulocochlear nerve disease | |
| Vestibular neuronitis | A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent. |
| Wolfram syndrome 2 | |
| Retrocochlear disease | |
| Wolf-Hirschhorn syndrome | OMIM mapping confirmed by DO. [LS]. |
| MYH-9 related disease | |
| Nager acrofacial dysostosis | |
| Vitreous disease | An eye and adnexa disease that is located in the vitreous of the eye. |
| Infantile Refsum disease | OMIM mapping confirmed by DO. [SN]. |
| Sotos syndrome 2 | |
| Leber congenital amaurosis 1 | |
| Lobomycosis | A dermatomycosis that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Lacazia loboi and has_symptom crusty plaques, has_symptom tumors and results_in_formation_of nodular lesions. |
| Glycogen storage disease IXa | |
| Meckel syndrome 1 | |
| Atypical autism | An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism. |
| Muscular dystrophy-dystroglycanopathy | Xref MGI. |
| Bart-Pumphrey syndrome | OMIM mapping confirmed by DO. [SN]. |
| Chromosome 9p deletion syndrome | |
| Mutism | A speech disorder that involves a complete inability to speak. |
| Motion sickness | OMIM mapping confirmed by DO. [SN]. |
| Retinitis pigmentosa 26 | |
| Bjornstad syndrome | OMIM mapping confirmed by DO. [SN]. |
| Ectodermal dysplasia 1 | |
| Spinocerebellar ataxia type 2 | |
| Schwannomatosis 1 | |
| X-linked Alport syndrome | |
| Space motion sickness | |
| GAPO syndrome | GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations |
| Leber congenital amaurosis 6 | |
| Townes-Brocks syndrome | An autosomal dominant disease that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. |
| Retinitis pigmentosa 38 | |
| Familial isolated deficiency of vitamin E | |
| N syndrome | |
| Malignant peripheral nerve sheath tumor | Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category.|An uncommon, highly aggressive malignant tumor, arising from the peripheral nerves and affecting mostly adults in their third to sixth decades of life. It usually occurs in medium-sized and large nerves of the buttock, thigh, upper arm, or the paraspinal region. It may be associated with neurofibromatosis 1 (NF1). |
| Laryngeal tuberculosis | A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia. |
| Cardiofaciocutaneous syndrome | A syndrome characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities; it is caused by mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes. |
| Legius syndrome | Legius syndrome, also known as NF1-like syndrome, is a rare, genetic, skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling. |
| Fleck corneal dystrophy | Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy (see this term) characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity. |
| Autoimmune lymphoproliferative syndrome type 4 | |
| Noonan syndrome with multiple lentigines | |
| Mitochondrial complex II deficiency | |
| Central conducting lymphatic anomaly | |
| Lung benign neoplasm | |
| Ascariasis | A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation. |
| Lung non-squamous non-small cell carcinoma | |
| Mitochondrial complex III deficiency | |
| Osteogenesis imperfecta type 20 | |
| Arteriovenous malformation | An anomalous configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system. |
| Juvenile myelomonocytic leukemia | OMIM mapping confirmed by DO. [SN]. |
| Malignant adenoma | |
| Cardiofaciocutaneous syndrome 2 | |
| Neurofibrosarcoma | |
| Nephrotic syndrome type 7 | |
| Cystadenocarcinoma | An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed. |
| Malignant cystadenoma | |
| Malignant choroid melanoma | |
| Serous cystadenocarcinoma | A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. |
| myelodysplastic/myeloproliferative neoplasm | |
| Plexiform neurofibroma | |
| Tongue squamous cell carcinoma | |
| Frontonasal dysplasia 2 | |
| Papillary renal cell carcinoma | A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors. |
| Vulvar melanoma | |
| Small cell carcinoma | A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells. |
| Cartilage disease | |
| desmoplastic/nodular medulloblastoma | |
| Protoplasmic astrocytoma | |
| Liposarcoma | A malignant lipomatous neoplasm that arises in fat cells in deep soft tissue retroperitoneum.|A malignant tumor derived from primitive or embryonal lipoblastic cells. It may be composed of well-differentiated fat cells or may be dedifferentiated: myxoid (LIPOSARCOMA, MYXOID), round-celled, or pleomorphic, usually in association with a rich network of capillaries. Recurrences are common and dedifferentiated liposarcomas metastasize to the lungs or serosal surfaces. (From Dorland, 27th ed; Stedman, 25th ed)|A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Representative morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid/round cell liposarcoma. The metastatic potential is higher in less differentiated tumors. |
| hypotonia, ataxia, and delayed development syndrome | |
| Gingival fibromatosis | The presence of fibrosis of the gingiva. |
| Dystonia 12 | |
| Oxyphilic adenoma | |
| Vulva cancer | |
| Botulism | A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located_in neuromuscular junction, resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. |
| Vulvar disease | |
| Dilated cardiomyopathy 1E | |
| Retinitis pigmentosa 3 | |
| Mucinous adenocarcinoma | An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. |
| Warburg micro syndrome 4 | |
| Developmental and epileptic encephalopathy 4 | |
| Mesenchymal cell neoplasm | A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from embryonic connective tissue that is capable of developing into connective tissue, such as bone, and cartilage, the lymphatic system, and the circulatory system. |
| Aarskog syndrome | |
| Vulva carcinoma | A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| dentatorubral-pallidoluysian atrophy | A spinocerebellar degeneration that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein. |
| Hyperphosphatemia | |
| Bladder clear cell adenocarcinoma | |
| Spitzoid melanoma | |
| Familial renal papillary carcinoma | |
| Hereditary renal cell carcinoma | |
| Multiple synostoses syndrome 3 | |
| Autosomal recessive spinocerebellar ataxia 2 | |
| Childhood fibrosarcoma | |
| Gastric tubular adenocarcinoma | |
| Lissencephaly 1 | |
| Childhood low-grade glioma | |
| Congenital fibrosarcoma | |
| Hypogonadotropic hypogonadism 6 with or without anosmia | |
| Pilocytic astrocytoma | An astrocytoma that is characterized by cells that look like fibers when viewed under a microscope and is located_in the brain. |
| Thanatophoric dysplasia | An osteochondrodysplasia that results_in short arms and legs with excess folds of skin. |
| Beare-Stevenson cutis gyrata syndrome | OMIM mapping confirmed by DO. [SN]. |
| Papillary carcinoma | A carcinoma that is derived_from epithelial cells with finger like projections. |
| Dysembryoplastic neuroepithelial tumor | |
| Childhood kidney cell carcinoma | |
| Collecting duct carcinoma | Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body). |
| Gastrointestinal adenoma | |
| Cystitis cystica | |
| Angiocentric glioma | |
| Birk-Barel syndrome | OMIM mapping confirmed by DO. [SN]. |
| Breast mucinous carcinoma | |
| NUT midline carcinoma | |
| Frank-Ter Haar syndrome | |
| SADDAN | |
| Follicular adenoma | |
| Latent syphilis | A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease. |
| Cholesterol ester storage disease | |
| Thyroid gland follicular carcinoma | |
| Glandular cystitis | |
| Thyroid gland adenocarcinoma | |
| Differentiated thyroid gland carcinoma | |
| Extraventricular neurocytoma | |
| Tropical sprue | |
| Nephrogenic adenoma | |
| Childhood absence epilepsy | A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years. |
| Juvenile absence epilepsy | An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures. |
| Idiopathic generalized epilepsy 9 | |
| Autosomal dominant nocturnal frontal lobe epilepsy | Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that begin during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief. |
| Early myoclonic encephalopathy | |
| Juvenile myoclonic epilepsy | A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years. |
| Cerebrooculofacioskeletal syndrome 1 | |
| Frontal lobe epilepsy | |
| Generalized epilepsy with febrile seizures plus 2 | |
| Benign epilepsy with centrotemporal spikes | |
| cone-rod dystrophy 3 | |
| Cerebellar ataxia type 41 | |
| Vertebral artery occlusion | |
| Stuttering | An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech. |
| Focal hand dystonia | |
| Articulation disorder | A speech disorder that involves mispronouncing speech sounds by omitting, distorting, substituting, or adding sounds which can make speech difficult to understand. |
| Generalized epilepsy with febrile seizures plus | An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset. |
| Cerebellar ataxia type 42 | |
| Schmid metaphyseal chondrodysplasia | A metaphyseal dysplasia that results_in dwarfism and bowed legs. |
| Hemidystonia | |
| Spinocerebellar ataxia type 13 | |
| Chromosome 15q13.3 microdeletion syndrome | |
| Benign familial infantile seizures 3 | |
| Multifocal dystonia | |
| Congenital myasthenic syndrome 5 | |
| Radiation cystitis | |
| Oromandibular dystonia | A focal dystonia that is characterized by distortions of the mouth and tongue. |
| Sorsby's fundus dystrophy | |
| Segmental dystonia | |
| Speech disorder | A communication disorder that involves difficulty with the act of speech production. |
| Childhood disintegrative disease | A pervasive developmental disorder that is a rare condition characterized by late onset (>3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress. |
| Childhood medulloblastoma | |
| Epilepsy with generalized tonic-clonic seizures | An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type. |
| Thoracic aortic aneurysm | An aortic aneurysm that is located_in the thoracic aorta. |
| Benign neonatal seizures | A neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has_material_basis_in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion. |
| Infancy electroclinical syndrome | An electroclinical syndrome with onset in infancy occurring between birth and one year of age. |
| lingual-facial-buccal dyskinesia | |
| EAST syndrome | |
| Biotin deficiency | |
| Orbital cancer | A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis. |
| Benign familial infantile epilepsy | An infancy electroclinical syndrome that is characterized by convulsions, with onset at age 3 to 12 months. |
| T2-low asthma | |
| Spinocerebellar ataxia type 6 | Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus. |
| T2-high asthma | |
| Autosomal recessive nonsyndromic deafness 99 | |
| Glycogen storage disease XV | |
| French Canadian Leigh disease | |
| Chorioangioma | |
| cold-induced sweating syndrome | An autosomal dominant disease characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body; caused_by mutations in the CRLF1 gene. |
| Charcot-Marie-Tooth disease type 4H | Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy |
| Transitional papilloma | |
| Agraphia | |
| Balo concentric sclerosis | |
| Somatization disorder | |
| Conversion disorder | A somatoform disorder that involves numbness, blindness, paralysis or fits without a neurological cause. |
| Branch retinal artery occlusion | |
| Charcot-Marie-Tooth disease type 4D | Charcot-Marie-Tooth disease type 4D (CMT4D) is a severe form of Charcot-Marie-Tooth disease type 4 (see this term), a demyelinating hereditary motor and sensory neuropathy, characterized by gait disorder manifesting in the first decade of life, followed by upper limb involvement observed in the second decade , and sensorineural deafness usually manifesting in the second or third decade of life. |
| Labyrinthitis | A inner ear infectious disease which involves inflammation of the labyrinths. |
| second-degree atrioventricular block | |
| Writing disorder | A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition. |
| Acute disseminated encephalomyelitis | An encephalomyelitis characterized by inflammation located_in brain and located_in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection. |
| Combined oxidative phosphorylation deficiency | |
| Progressive non-fluent aphasia | |
| Renal cell carcinoma with MiT translocations | |
| TFE3-rearranged renal cell carcinoma | |
| Strabismus | |
| Perivascular tumor | |
| Bardet-Biedl syndrome 8 | |
| TFEB-rearranged renal cell carcinoma | |
| Focal dermal hypoplasia | OMIM mapping confirmed by DO. [SN]. |
| Vascular cancer | A cardiovascular cancer that is located_in blood vessels. |
| Cardiovascular cancer | An organ system cancer that located_in the heart and blood vessels. |
| Tetraamelia syndrome | |
| osteoporosis-pseudoglioma syndrome | |
| Ossifying fibromyxoid tumor | |
| Tethered spinal cord syndrome | OMIM mapping confirmed by DO. [LS]. |
| Autosomal recessive spinocerebellar ataxia 12 | |
| Atrial heart septal defect 2 | |
| Atrial heart septal defect 1 | |
| Omodysplasia 2 | |
| Periosteal osteogenic sarcoma | |
| Epithelioid type angiomyolipoma | |
| Sclerosteosis | A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life. |
| Enterobiasis | A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching. |
| Lipoma | A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue. |
| Popliteal pterygium syndrome | NT MGI. |
| SOST-related sclerosing bone dysplasia | A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull. |
| Craniodiaphyseal dysplasia | An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal. |
| Otulipenia | |
| Nephronophthisis 7 | |
| Peripheral osteosarcoma | |
| X-linked Aarskog syndrome | |
| Angiomyolipoma | A cell type benign neoplasm that from perivascular epithelioid cells. |
| non-syndromic X-linked intellectual disability 99 | |
| Geleophysic dysplasia | Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as happy''). |
| Desmoid tumor | |
| chondrodysplasia-pseudohermaphroditism syndrome | |
| Metaphyseal dysplasia | An osteochondrodysplasia that results_in thinning and the tendency to fracture located_in bone. |
| Mosaic variegated aneuploidy syndrome | Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition. |
| Brachydactyly type B1 | |
| Spondylosis | An bone structure disease that involves degeneration between vertebra located_in vertebral column. |
| Van der Woude syndrome | A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone. |
| Signet ring cell adenocarcinoma | An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which have signet ring appearance. |
| Colon adenoma | |
| Hypoplastic right heart syndrome | |
| Omphalocele | A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac. |
| Noonan syndrome-like disorder with loose anagen hair 2 | |
| castration-resistant prostate carcinoma | |
| Synovium cancer | |
| Synovial sarcoma | A synovium cancer which develops in the synovial membrane of the joints. |
| Hereditary nonpolyposis colorectal cancer type 7 | |
| Omodysplasia 1 | |
| Communicating hydrocephalus | |
| Jansen's metaphyseal chondrodysplasia | A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism. |
| Hypoplastic left heart syndrome | A congenital heart disease characterized by abnormal development of the left-sided structures of the heart. |
| Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia | |
| Microinvasive gastric cancer | |
| Alveolar rhabdomyosarcoma | A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities.|Alveolar |
| Pancreatoblastoma | |
| Cranioectodermal dysplasia | |
| Congenital nongoitrous hypothyroidism 2 | |
| Syndactyly type 1 | |
| short-rib thoracic dysplasia 9 with or without polydactyly | |
| Human monocytic ehrlichiosis | An ehrlichiosis that results_in infection located_in monocyte or located_in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted_by black-legged tick (Ixodes scapularis), transmitted_by western black-legged tick (Ixodes pacificus) or transmitted_by castor bean tick (Ixodes ricinus,). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash. |
| Worth syndrome | |
| Pilomatrixoma | OMIM mapping confirmed by DO. [SN]. |
| Hair follicle neoplasm | |
| Ankyloglossia | Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue. |
| Brain glioblastoma multiforme | |
| SMARCB1-deficient renal medullary carcinoma | |
| B-lymphoblastic leukemia/lymphoma | |
| Cri-Du-Chat syndrome | OMIM mapping confirmed by DO. [SN]. |
| Macrocytic anemia | |
| Autosomal recessive Robinow syndrome | |
| microcephaly, seizures, and developmental delay | |
| Joubert syndrome 2 | |
| Hereditary sensory and autonomic neuropathy type 2A | |
| Normal pressure hydrocephalus | OMIM mapping confirmed by DO. [SN]. |
| Obstructive nephropathy | |
| Vici syndrome | Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. |
| Anaplastic astrocytoma | |
| Bone osteosarcoma | |
| Van Maldergem syndrome | |
| Miles-Carpenter syndrome | |
| Kenny-Caffey syndrome | |
| High grade ependymoma | |
| Sporadic breast cancer | |
| Hypogonadotropic hypogonadism 12 with or without anosmia | |
| Sclerosteosis 1 | |
| Supratentorial ependymoma | |
| Van Maldergem syndrome 2 | |
| Eiken syndrome | |
| Embryonal rhabdomyosarcoma | A form of RHABDOMYOSARCOMA arising primarily in the head and neck, especially the orbit, of children below the age of 10. The cells are smaller than those of other rhabdomyosarcomas and are of two basic cell types: spindle cells and round cells. This cancer is highly sensitive to chemotherapy and has a high cure rate with multi-modality therapy. (From Holland et al., Cancer Medicine, 3d ed, p2188)|A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis. There are three histologic types, spindle cell, botryoid and anaplastic. |
| Female reproductive endometrioid cancer | |
| Kaposi's sarcoma | A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (HHV8). |
| Hereditary sensory and autonomic neuropathy type 1A | |
| Pleomorphic adenoma | A gastrointestinal benign neoplasm that is a located_in the salivary glands. |
| Glomangiosarcoma | |
| Primary ciliary dyskinesia 38 | |
| Primary ciliary dyskinesia 28 | |
| Primary ciliary dyskinesia 36 | |
| nail-patella syndrome | OMIM mapping confirmed by DO. [SN]. |
| Primary ciliary dyskinesia 25 | |
| Primary ciliary dyskinesia 10 | |
| Hereditary spastic paraplegia 16 | |
| Primary ciliary dyskinesia 22 | |
| Primary ciliary dyskinesia 19 | |
| cone-rod dystrophy 8 | |
| X-linked dyskeratosis congenita | |
| Spinocerebellar ataxia type 36 | |
| PEHO syndrome | |
| Scheuermann's disease | An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column. |
| Oligomeganephronia | |
| Myiasis | A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue. |
| Amyotrophic lateral sclerosis type 2 | A type of ALS with juvenile onset caused_by mutation located_in alsin gene located_in chromosome 2. |
| Aggressive periodontitis | A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium. |
| Tuberculous peritonitis | A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation. |
| Septic arthritis | An arthritis that involves infection by a pathogen located_in joint. |
| Viral meningitis | |
| Aseptic meningitis | |
| Congenital syphilis | A syphilis that results_in a multisystem infection in the fetus via the placenta. |
| Hemiplegia | |
| Nijmegen breakage syndrome | OMIM mapping confirmed by DO. [SN]. |
| Splenic abscess | |
| Lassa fever | A viral infectious disease that results_in infection, has_material_basis_in Lassa virus, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding. |
| megacystis-microcolon-intestinal hypoperistalsis syndrome | Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder, microcolon and decreased or absent intestinal peristalsis. |
| Salivary gland cancer | An oral cavity cancer that is located_in the salivary gland. |
| Generalized atherosclerosis | |
| Hepatic coma | |
| Central pontine myelinolysis | |
| Combined saposin deficiency | |
| hand-foot-genital syndrome | Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects. |
| Idiopathic scoliosis | |
| Anthrax disease | A primary bacterial infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_material_basis_in Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath. |
| Pneumonic plague | A plague that results_in infection located_in lung, which results from direct inhalation of the bacillus and has_symptom fever, has_symptom chills, has_symptom cough and has_symptom difficulty breathing. |
| CNS neuroblastoma with FOXR2 activation | |
| Guttmacher syndrome | Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias. |
| Central nervous system neuroblastoma | |
| Central nervous system germ cell tumor | |
| Cervical incompetence | A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term. |
| Mesenteric lymphadenitis | |
| Supratentorial ependymoma, YAP1 fusion–positive | |
| Infantile parkinsonism-dystonia 2 | |
| Cerebritis | |
| Cutaneous anthrax | An anthrax disease that results_in infection located_in skin, has_material_basis_in Bacillus anthracis, which is transmitted_by contact with infected animals or animal products. The infection has_symptom skin lesion that eventually forms an ulcer with a black center. |
| Gaucher's disease type IIIC | |
| Adult xanthogranuloma | |
| Retinal drusen | OMIM mapping confirmed by DO. [SN]. |
| Supratentorial ependymoma, ZFTA fusion–positive | |
| Melanoacanthoma | |
| Inhalation anthrax | An anthrax disease that results_in infection located_in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches. |
| Newcastle disease | A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Newcastle disease virus, which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds. |
| Gaucher's disease type III | |
| Gastrointestinal anthrax | |
| Spinocerebellar ataxia with axonal neuropathy 2 | |
| Acral lentiginous melanoma | A skin melanoma that is characterized by slow growth of a small pigmented spot on the skin with a clearly defined edge, surrounded by normal-appearing skin and occurs on occurs on non hair-bairing surfaces including hands and feet, subungual sites, and fingers or toes. |
| Chronic venous insufficiency | |
| Raynaud disease | OMIM mapping confirmed by DO. [SN]. |
| coronin-1A deficiency | A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs. |
| Chronic recurrent multifocal osteomyelitis | |
| Reactive arthritis | An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body. |
| Bardet-Biedl syndrome 2 | |
| STING-associated vasculopathy with onset in infancy | |
| Congenital disorder of glycosylation type IIc | |
| Renpenning syndrome | An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males. |
| Cerebral ventricle cancer | A cerebrum cancer that is located_in the cerebral ventricles. |
| Mucosal melanoma | |
| maturity-onset diabetes of the young type 10 | |
| RELA fusion-positive ependymoma | |
| Severe pre-eclampsia | A pre-eclampsia that has_symptom at least one of the following: SBP of 160mm HG or higher or DPB of 110mm HG or higher on 2 occasions at least 6 hours apart, proteinuria more than 5g in a 24-hour collection, pulmonary edema or cyanosis, oliguria, persistent headaches, epigastric pain and/or impaired liver function, thrombocytopenia, oligohydramnios, decreased fetal growth or placental abruption. |
| Neurogenic bowel | |
| Cerebrum cancer | A supratentorial cancer that is located_in the cerebrum. |
| Ectopic thymus | |
| Supratentorial cancer | A brain cancer that is located_in the supratentorial region. |
| Venous insufficiency | A vein disease that is characterized by impaired flow of blood through the veins. |
| Mixed gonadal dysgenesis | |
| Childhood ependymoma | |
| Glycogen storage disease III | OMIM mapping confirmed by DO. [SN]. |
| Leukocyte adhesion deficiency 3 | |
| Multiple system atrophy | OMIM mapping confirmed by DO. [LS]. |
| Separation anxiety disorder | An anxiety disorder that involves the feeling of excessive and inappropriate levels of anxiety over being separated from a person to whom the individual has a strong emotional attachment or place. |
| Inflammatory bowel disease 12 | |
| Syndromic X-linked intellectual disability Shashi type | |
| Cataract 37 | |
| Mixed testicular germ cell tumor | A mixed germ cell cancer that is located_in the testis. |
| Chromosome 5q deletion syndrome | |
| Rubinstein-Taybi syndrome | An autosomal dominant disease characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes; additionally it can include eye abnormalities, heart and kidney defects, dental problems and obesity. |
| Testicular infarct | |
| Progressive leukoencephalopathy with ovarian failure | |
| Testicular malignant germ cell cancer | |
| Papillary adenoma | |
| Netherton syndrome | OMIM mapping confirmed by DO. [SN]. |
| Amnestic disorder | A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information. |
| Kidney cortex necrosis | |
| Nemaline myopathy | A congenital structural myopathy characterized by generally non-progressive muscle weakness of varying severity; certain muscle fibers show the presence of rod-like structures called nemaline bodies. |
| Mixed germ cell cancer | A germ cell cancer that occurs in many forms. |
| Spinal stenosis | A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord. |
| Borrelia miyamotoi disease | |
| Amelogenesis imperfecta type 3 | |
| Subacute thyroiditis | |
| Gelatinous drop-like corneal dystrophy | Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment. |
| Intermittent explosive disorder | An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness. |
| Familial juvenile hyperuricemic nephropathy | A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease. |
| Thrombocytosis | A myeloma and blood platelet disease that is characterized by the presence of high platelet counts in the blood. |
| Factor XI deficiency | OMIM mapping confirmed by DO. [SN]. |
| Pyuria | |
| Congenital amegakaryocytic thrombocytopenia | Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood. |
| Diamond-blackfan anemia 3 | |
| Myoma | |
| Muscle benign neoplasm | |
| Adhesions of uterus | |
| Gray platelet syndrome | Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear. |
| Neurodegeneration with brain iron accumulation 4 | |
| Bernard-Soulier syndrome | OMIM mapping confirmed by DO. [SN]. |
| Glanzmann's thrombasthenia | OMIM mapping confirmed by DO. [LS]. |
| tarsal-carpal coalition syndrome | An autosomal dominant disease that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion. |
| Vaginal adenoma | |
| Endometriosis of pelvic peritoneum | |
| Vaginal benign neoplasm | |
| Submucous uterine fibroid | |
| Acrofrontofacionasal dysostosis | |
| Schinzel type phocomelia | |
| Ischiocoxopodopatellar syndrome | |
| Diamond-Blackfan anemia | A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis insufficient levels of red blood cells due to bone marrow dysfunction. |
| Renal coloboma syndrome | Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia. |
| Fraser syndrome 1 | |
| Stormorken syndrome | |
| Childhood leukemia | A leukemia that occurs in children. |
| Myelophthisic anemia | A myeloma and anemia that is located_in some people with diseases that affect the bone marrow. |
| Endometrial stromal tumor | |
| Proximal symphalangism | An autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness. |
| Severe congenital neutropenia 8 | |
| Pure red-cell aplasia | |
| Penis carcinoma | A penile cancer that is located_in the skin or tissues of the penis. |
| Clear cell adenocarcinoma | An adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. |
| Fallopian tube cancer | A female reproductive organ cancer that is located_in fallopian tube. |
| platelet-type bleeding disorder 3 | |
| Weaver syndrome | OMIM mapping confirmed by DO. [LS]. |
| X-linked dyserythropoietic anemia | |
| Ovarian cyst | Ovarian cysts are small fluid-filled sacs that develop in a woman's ovaries. |
| Endometrial stromal sarcoma | |
| AMED syndrome | |
| Revesz syndrome | Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications. |
| Leiomyosarcoma | A sarcoma containing large spindle cells of smooth muscle. Although it rarely occurs in soft tissue, it is common in the viscera. It is the most common soft tissue sarcoma of the gastrointestinal tract and uterus. The median age of patients is 60 years. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1865)|A malignant smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis.|An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas. |
| Smooth muscle cancer | |
| Fallopian tube disease | |
| Childhood acute myeloid leukemia | |
| Acquired thrombocytopenia | |
| Neonatal abstinence syndrome | A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment. |
| Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| Adenocarcinoma in situ | |
| Bainbridge-Ropers syndrome | |
| Thrombocytopenia due to platelet alloimmunization | |
| Sialuria | A lysosomal storage disease characterized by increased sialic acid in the urine. |
| Cystadenoma | An adenoma that is a cystic. |
| Amelogenesis imperfecta type 1E | |
| Fibrochondrogenesis 1 | |
| Cauda equina syndrome | A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord. |
| Orbital cyst | |
| Carcinosarcoma | A mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. |
| Peritoneal carcinoma | A carcinoma that is located_in the inside of the abdomen. |
| Adult acute lymphocytic leukemia | |
| Mixed cell type cancer | A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from two germinal layers of tissue. |
| Penile cancer | |
| Penile disease | |
| Enterocele | |
| Rete testis adenocarcinoma | A rete testis neoplasm that derives_from epithelial cells of glandular origin. |
| Rete testis neoplasm | |
| Schwartz-Jampel syndrome 1 | |
| Childhood kidney cancer | |
| Chromosome 1q21.1 deletion syndrome | |
| Peritoneum cancer | An organ system cancer that is located in the peritoneum. |
| Fallopian tube carcinoma | A fallopian tube cancer that is located_in the fallopian tube. |
| Hepatic veno-occlusive disease | |
| bronchiolo-alveolar adenocarcinoma | |
| Essential thrombocythemia | |
| Ankylosis | Ankylosis is a arthropathy where there is a stiffness of a joint, the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself. |
| Prolapse of female genital organ | |
| McKusick-Kaufman syndrome | |
| Nephronophthisis 4 | |
| Nasu-Hakola disease | Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities. |
| Complex regional pain syndrome | |
| Leukostasis | |
| Viral encephalitis | An encephalitis that involves inflammation of the brain caused by viral infection. |
| Trigeminal nerve disease | |
| Crescentic glomerulonephritis | |
| Acute proliferative glomerulonephritis | |
| Carotid artery disease | |
| Transient cerebral ischemia | |
| Trigeminal neuralgia | OMIM mapping confirmed by DO. [LS]. |
| Cerebral malaria | A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species. |
| Carotid stenosis | |
| Hepatopulmonary syndrome | |
| Lupus nephritis | Glomerulonephritis associated with autoimmune disease SYSTEMIC LUPUS ERYTHEMATOSUS. Lupus nephritis is histologically classified into 6 classes: class I - normal glomeruli, class II - pure mesangial alterations, class III - focal segmental glomerulonephritis, class IV - diffuse glomerulonephritis, class V - diffuse membranous glomerulonephritis, and class VI - advanced sclerosing glomerulonephritis (The World Health Organization classification 1982). |
| IgA glomerulonephritis | A chronic form of glomerulonephritis characterized by deposits of predominantly immunoglobulin A in the mesangial area (glomerular mesangium). Deposits of complement C3 and immunoglobulin G are also often found. Clinical features may progress from asymptomatic hematuria to end-stage kidney disease. |
| African tick-bite fever | A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash. |
| Autoimmune uveitis | |
| Autoimmune disease of eyes, ear, nose and throat | |
| Polyneuropathy due to drug | |
| Neuromyelitis optica | A central nervous system disease characterized by acute neuritis located_in eye and demyelination located_in optic nerve and located_in spinal cord. |
| Hypersensitivity reaction type III disease | |
| Kawasaki disease | A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels located_in body, has_symptom fever, has_symptom congestion of ocular conjunctivae, has_symptom reddening of lips, has_symptom reddening of oral cavity, has_symptom protuberance of tongue papillae and has_symptom edema of extremities. |
| Interstitial cystitis | |
| Central nervous system vasculitis | |
| Herpes zoster | A viral infectious disease that results_in infection located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The virus is transmitted_by direct contact with the rash, which can develop into chickenpox in newly-infected individuals. The infection has_symptom rash which is followed by blisters, has_symptom headache, has_symptom fever, has_symptom malaise, has_symptom itching, has_symptom burning pain, and has_symptom paresthesia. |
| Temporal arteritis | OMIM mapping confirmed by DO. [LS]. |
| Radiculopathy | |
| Intracranial berry aneurysm | |
| Opioid abuse | A substance abuse that involves the recurring use of opioid drugs despite negative consequences. |
| Myelitis | |
| Chronic cholangitis | |
| Complement component 3 deficiency | Xref MGI. |
| Familial multiple lipomatosis | |
| Bone deterioration disease | A bone structure disease that results_in change or damage of structure located_in bone. |
| Trichotillomania | An impulse control disorder that involves the uncontrollable plucking of ones hair. |
| Dengue disease | A viral infectious disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom severe headache, has_symptom severe pain behind the eyes, has_symptom joint pain, has_symptom muscle and bone pain, has_symptom rash, and has_symptom mild bleeding. |
| Polymyositis | |
| Tonsillitis | An upper respiratory tract disease which involves inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat (which may be experienced as referred pain to the ears), painful/difficult swallowing, coughing, headache, myalgia (muscle aches), fever and chills. Tonsillitis is characterized by signs of red, swollen tonsils which may have a purulent exudative coating of white patches (i.e. pus). Swelling of the cheeks and neck may occur. |
| Boutonneuse fever | A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. |
| Retinal vasculitis | |
| Lymphocytic choriomeningitis | A viral infectious disease that results_in infection located_in brain, or located_in meninges, or located_in brain and meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom lack of appetite, has_symptom headache, has_symptom muscle aches, has_symptom malaise, has_symptom nausea, and has_symptom vomiting. |
| Aphasia | A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language. |
| Conjunctival pigmentation | |
| Cocaine abuse | A substance abuse that involves the recurring use of cocaine despite negative consequences. |
| Kuhnt-Junius degeneration | |
| Progressive multifocal leukoencephalopathy | A viral infectious disease that involves reactivation of JC polyomavirus in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma. |
| Diabetic polyneuropathy | |
| Henoch-Schoenlein purpura | |
| Antiphospholipid syndrome | A hypersensitivity reaction type II disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin). |
| Polymyalgia rheumatica | |
| Hypersensitivity vasculitis | |
| Potocki-Shaffer syndrome | |
| Goodpasture syndrome | A hypersensitivity reaction type II disease that is characterized by glomerulonephritis located_in kidney and hemorrhaging located_in lung. |
| Autoimmune disease of urogenital tract | A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract. |
| Guillain-Barre syndrome | An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system. |
| Degenerative disc disease | A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc. |
| Pityriasis rosea | |
| Diabetic encephalopathy | |
| Quadriplegia | |
| Burning mouth syndrome | |
| REM sleep behavior disorder | A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement. |
| Dysthymic disorder | A mood disorder that involves the presence of a low mood almost daily over a span of at least two years. |
| Aphthous stomatitis | A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers. |
| Myasthenia gravis | OMIM mapping confirmed by DO. [SN]. |
| Erythromelalgia | |
| Cytomegalovirus retinitis | |
| Transverse myelitis | |
| Mesangial proliferative glomerulonephritis | |
| Impulse control disorder | A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others. |
| Keratoconjunctivitis sicca | |
| NK cell deficiency | |
| Chronic cystitis | |
| Neovascular inflammatory vitreoretinopathy | |
| Yellow fever | A viral infectious disease that results_in infection, has_material_basis_in Yellow fever virus, which is transmitted_by Aedes, transmitted_by Haemagogus, or transmitted_by Sabethes species of mosquitoes. The infection has_symptom fever, has_symptom muscle pain, has_symptom backache, has_symptom headache, has_symptom shivers, has_symptom loss of appetite, has_symptom jaundice, and has_symptom bleeding from the mouth, nose, eyes or stomach leading to vomitus containing blood. |
| Hidradenitis suppurativa | OMIM mapping confirmed by DO. [SN]. |
| adult-onset leukoencephalopathy with axonal spheroids and pigmented glia | |
| Hepatorenal syndrome | |
| Hidradenitis | |
| Paroxysmal extreme pain disorder | |
| Aortic atherosclerosis | |
| Antisynthetase syndrome | |
| Brill-Zinsser disease | An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses. |
| Carotid artery occlusion | |
| Dengue hemorrhagic fever | A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. |
| Inflammatory and toxic neuropathy | |
| Japanese encephalitis | A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis. |
| Lipoid nephrosis | |
| Arthus reaction | |
| Bipolar I disorder | A bipolar disorder that is characterized by at least one manic or mixed episode. |
| Neovascular glaucoma | |
| adult-onset Still's disease | An arthritis that is a rare from of inflammatory arthritis characterized by fevers, rash, and joint pain. |
| anti-basement membrane glomerulonephritis | |
| Hyper IgM syndrome | |
| Dengue shock syndrome | A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth. |
| Adiposis dolorosa | OMIM mapping confirmed by DO. [SN]. |
| Cocaine dependence | A drug dependence that is a psychological dependency on the regular use of cocaine. |
| Causalgia | |
| Occlusion precerebral artery | |
| Fallopian tube adenocarcinoma | A fallopian tube carcinoma that derives_from epithelial cells of glandular origin. |
| Diabetic angiopathy | |
| Smallpox | A viral infectious disease that results_in infection located_in skin, has_material_basis_in Variola virus, which is transmitted_by droplets from oral, nasal or pharyngeal mucosa, transmitted_by contact with the body fluids, or transmitted_by fomites. The infection results_in_formation_of lesions, first on the face, hands and forearms and later on the trunk. |
| Listeria meningitis | |
| Decubitus ulcer | Decubitus ulcer is a chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure. |
| Chronic ulcer of skin | |
| Autoimmune vasculitis | |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | |
| Bacteriuria | A urinary system disease which consists of the presence of bacteria in urine. |
| platelet-type bleeding disorder 11 | |
| Castleman disease | |
| Transient arthritis | |
| Membranoproliferative glomerulonephritis | |
| Eosinophilic meningitis | |
| Lymphocytic colitis | |
| Chikungunya | A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus, which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash. |
| Mononeuropathy | |
| Human cytomegalovirus infection | |
| Capillary disease | A vascular disease that is located_in the capillaries. |
| Childhood type dermatomyositis | |
| Chronic conjunctivitis | |
| Autoimmune neuropathy | |
| Tibialis tendinitis | |
| Mild pre-eclampsia | A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation. |
| Refractory plasma cell neoplasm | |
| Tendinitis | |
| Typhus | A primary bacterial infectious disease that refers to a group of diseases, located_in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted_by lice, transmitted_by fleas, and transmitted_by mites. |
| Takayasu's arteritis | A syndrome that involves inflammation of the aorta that carries blood from the heart to the rest of the body. |
| Malignant breast melanoma | |
| Monoclonal gammopathy of uncertain significance | |
| Narcolepsy | A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work. |
| Tic disorder | A specific developmental disorder that is characterized by the persistent presence of involuntary brief movements or sounds occuring intermittently and unpredictably out of a background of normal motor activity. |
| Lymphangitis | A lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) or Staphylococcus aureus. Lymphangitis is also sometimes called blood poisoning. |
| Posterior fossa meningioma | |
| Pulmonary venoocclusive disease | OMIM mapping confirmed by DO. [SN]. |
| Mastocytosis | OMIM mapping confirmed by DO. [LS]. |
| Dental pulp disease | |
| Developmental dysplasia of the hip | |
| Background diabetic retinopathy | |
| Retinal artery occlusion | |
| Age related macular degeneration 12 | |
| Choroiditis | |
| Infectious mononucleosis | A viral infectious disease that results_in inflammation, located_in pharynx, has_material_basis_in Human herpesvirus 4 and has_symptom fever, has_symptom fatigue, has_symptom lymphadenopathy, and has_symptom splenomegaly. |
| Vogt-Koyanagi-Harada disease | A hypersensitivity reaction type II disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis. |
| Coronary thrombosis | |
| X-linked hyper IgM syndrome | |
| Hypotrichosis 2 | |
| Crohn's colitis | |
| Spondyloarthropathy | Heterogeneous group of arthritic diseases sharing clinical and radiologic features. They are associated with the HLA-B27 ANTIGEN and some with a triggering infection. Most involve the axial joints in the SPINE, particularly the SACROILIAC JOINT, but can also involve asymmetric peripheral joints. Subsets include ANKYLOSING SPONDYLITIS; REACTIVE ARTHRITIS; PSORIATIC ARTHRITIS; and others. |
| Multiple symmetric lipomatosis | OMIM mapping confirmed by DO. [SN]. |
| Polyradiculoneuropathy | |
| Hantavirus hemorrhagic fever with renal syndrome | |
| Pemphigoid | |
| Mixed connective tissue disease | A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen. |
| Pericardial effusion | A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity. |
| Thyrotoxicosis | A thyroid gland disease that is characterized by excess thyroid hormone. |
| Nonobstructive coronary artery disease | |
| non-severe COVID-19 | |
| Parkinson's disease 6 | |
| Periventricular leukomalacia | |
| Tenosynovial giant cell tumor | |
| Tropical spastic paraparesis | A viral infectious disease that results_in inflammation located_in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, and transmitted_by breast feeding. The infection has_symptom spastic weakness of both legs, has_symptom muscle stiffness, has_symptom sensory disturbance, and has_symptom spasms. |
| Rapidly progressive glomerulonephritis | |
| Pulpitis | |
| Capillary leak syndrome | |
| Immunodeficiency with hyper IgM type 3 | |
| Marsili syndrome | |
| Filamentary keratitis | |
| Eclampsia | A pre-eclampsia characterized by the presence of seizures. |
| Critical illness polyneuropathy | |
| Bullous pemphigoid | An autoimmune disease of skin and connective tissue characterized by large blisters. |
| Familial temporal lobe epilepsy 7 | |
| Developmental and epileptic encephalopathy 29 | |
| Scrub typhus | A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted_by trombiculid mites (Leptotrombidium deliense). The infection has_symptom fever, has_symptom headache, has_symptom muscle pain, has_symptom cough, has_symptom maculopapular rash, has_symptom eschar, has_symptom splenomegaly and has_symptom lymphadenopathy. |
| Myofascial pain syndrome | |
| Alveolar periostitis | |
| Meesmann corneal dystrophy | Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision. |
| Exfoliation syndrome | OMIM mapping confirmed by DO. [SN]. |
| post-thrombotic syndrome | A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis. |
| Phacogenic glaucoma | |
| Limited scleroderma | |
| Multiple chemical sensitivity | A syndrome that is an adverse physical reaction to low levels of many common chemicals. |
| Hypertensive encephalopathy | |
| Articular cartilage disease | |
| Conjunctivochalasis | |
| Chronic urticaria | |
| Patellar tendinitis | |
| Acute cystitis | A cystitis characterized by a sudden onset or severe symptoms. |
| Gliosarcoma | |
| Cutaneous lupus erythematosus | A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight. |
| Tenosynovitis | |
| Cavernous sinus meningioma | |
| Conduct disorder | A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated. |
| Atrioventricular block | A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart. |
| Spondyloepiphyseal dysplasia tarda | |
| X-linked spondyloepiphyseal dysplasia tarda | |
| Binocular vision disease | |
| Developmental and epileptic encephalopathy 84 | |
| Cherubism | OMIM mapping confirmed by DO. [SN]. |
| Mucopolysaccharidosis IX | |
| Autosomal recessive limb-girdle muscular dystrophy type 2S | |
| Loeys-Dietz syndrome 4 | |
| Basal ganglia calcification | A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills. |
| Basal ganglia disease | |
| Spinocerebellar ataxia type 12 | |
| Charcot-Marie-Tooth disease type 1C | |
| Right atrial isomerism | Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest. |
| KBG syndrome | A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton. |
| Tricuspid atresia | Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle. |
| Ebstein anomaly | A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart. |
| Adams-Oliver syndrome | A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs. |
| Aortitis | |
| Anteroseptal myocardial infarction | |
| Childhood malignant schwannoma | |
| Tick paralysis | A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage. |
| Opisthorchiasis | A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma. |
| Hypochondrogenesis | An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen. |
| Dentin dysplasia | A teeth hard tissue disease characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology. |
| Gallbladder carcinoma | A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| Osteochondrosis | An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone. |
| Central retinal vein occlusion | |
| Optic atrophy 4 | |
| Cervix uteri carcinoma in situ | |
| Uterus carcinoma in situ | |
| Renal pelvis carcinoma | |
| Parathyroid carcinoma | An endocrine gland cancer located_in the parathyroid glands located in the neck. |
| Rectal benign neoplasm | |
| Bladder urachal carcinoma | |
| Urachus cancer | |
| Ophthalmia neonatorum | |
| Bacterial conjunctivitis | |
| Hyaline fibromatosis syndrome | |
| Microcystic adenoma | |
| Lymphocytic gastritis | |
| Primary spontaneous pneumothorax | |
| Periodic limb movement disorder | A sleep disorder that involves involuntary limb movement during sleep. |
| Ureter cancer | A urinary system cancer that is located_in the ureter. |
| Periampullary adenocarcinoma | |
| Benign mammary dysplasia | |
| Williams-Beuren syndrome | OMIM mapping confirmed by DO. [LS]. |
| Yunis-Varon syndrome | |
| Palmoplantar keratoderma-esophageal carcinoma syndrome | |
| Carney complex | An autosomal dominant disease characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity. |
| Breast fibroadenoma | A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast. |
| Craniometaphyseal dysplasia | An osteosclerosis that has_material_basis_in mutations in the ANKH gene which results_in progressive thickening located_in skull and abnormally shaped ends of long bones in the limbs. |
| Breast benign neoplasm | |
| Thoracic benign neoplasm | An organ system benign neoplam that is located_in the thoracic cavity. |
| Osteoglophonic dysplasia | |
| Dubowitz syndrome | A syndrome that is a rare genetic disorder characterized by microcephaly, growth retardation and a characteristic facial appearance like small, round, triangular shaped with a pointed, receding chin, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids. |
| Striatonigral degeneration | OMIM mapping confirmed by DO. [LS]. |
| Charcot-Marie-Tooth disease type 4J | |
| Werner syndrome | OMIM mapping confirmed by DO. [LS]. |
| Toxocariasis | A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions. |
| Primary pigmented nodular adrenocortical disease | |
| Supravalvular aortic stenosis | |
| DICER1 syndrome | |
| Pantothenate kinase-associated neurodegeneration | A neurodegenerative disease that is characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system. |
| Pleuropulmonary blastoma | A pulmonary blastoma that derives_from the lung or pleural cavity. |
| Bowen-Conradi syndrome | OMIM mapping confirmed by DO. [SN]. |
| Geleophysic dysplasia 3 | |
| Geleophysic dysplasia 2 | |
| adult-onset severe asthma | |
| Gingival recession | |
| Cole-Carpenter syndrome | |
| Von Willebrand's disease 3 | |
| Lens subluxation | |
| Dowling-Degos disease | A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases. |
| Galloway-Mowat syndrome | |
| 3-M syndrome | An autosomal recessive disease characterized by dwarfism, facial dysmorphia and skeletal abnormalities. |
| Anal fistula | An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin. |
| Paroxysmal nocturnal hemoglobinuria | NT MGI. |
| Thrombotic thrombocytopenic purpura | |
| Hemoglobinuria | |
| Adult medulloblastoma | |
| Hermansky-Pudlak syndrome 1 | |
| Familial hypobetalipoproteinemia 2 | |
| Autosomal dominant Alport syndrome | |
| Autosomal recessive Alport syndrome | |
| Intestinal tuberculosis | A gastrointestinal tuberculosis that involves diffuse mucosal fold thickening, formation of ulcers and fistulae located_in intestine. The infection has_symptom abdominal pain, has_symptom gastrointestinal bleeding, has_symptom nausea and has_symptom vomiting. |
| Esophagus squamous cell carcinoma | An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus. |
| Hypobetalipoproteinemia | |
| Gastrointestinal tuberculosis | An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom change in bowel habits, has_symptom nausea, and has_symptom vomiting. |
| Abdominal tuberculosis | An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas. |
| Benign familial hematuria | |
| Familial combined hyperlipidemia | OMIM mapping confirmed by DO. [SN]. |
| Dysgerminoma of ovary | A dysgerminoma that is located_in the ovary. |
| Idiopathic generalized epilepsy 12 | |
| Dystonia 9 | |
| Dystonia 16 | Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism. |
| ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | |
| Malignant teratoma | |
| Pure hair and nail ectodermal dysplasia | |
| Premature menopause | |
| Bile duct cystadenocarcinoma | |
| non-gestational choriocarcinoma | |
| Split hand-foot malformation 4 | |
| Rapp-Hodgkin syndrome | An autosomal dominant disease characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate. |
| Malignant pheochromocytoma | |
| Adrenal medulla cancer | An adrenal gland cancer that is located_in the adrenal medulla. |
| Gestational trophoblastic neoplasm | OMIM mapping confirmed by DO. [SN]. |
| Split hand-foot malformation | |
| Trophoblastic neoplasm | A germ cell and embryonal cancer that derives_from trophoblastic tissue. |
| EEC syndrome | |
| Monodermal teratoma | |
| Selective IgA deficiency disease | A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract. |
| Ovarian germ cell teratoma | |
| White sponge nevus | |
| Bullous congenital ichthyosiform erythroderma | |
| Baraitser-Winter syndrome 1 | |
| Epidermolysis bullosa simplex localized type | |
| Epidermolytic hyperkeratosis | OMIM mapping confirmed by DO. [SN]. |
| Esophageal atresia/tracheoesophageal fistula | |
| Monilethrix | OMIM mapping confirmed by DO. [SN]. |
| Caffey disease | A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has_symptom soft-tissue swelling, has_symptom bone lesions, and has_symptom irritability. |
| Loose anagen hair syndrome | |
| Salivary gland adenoid cystic carcinoma | A salivary gland carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes. |
| Salivary gland carcinoma | A salivary gland cancer that has_material_basis_in epithelial cells. |
| Hypopharynx cancer | A pharynx cancer that is located_in the hypopharynx. |
| Nonsyndromic congenital nail disorder 4 | |
| Pachyonychia congenita | OMIM mapping confirmed by DO. [SN]. |
| Skin pilomatrix carcinoma | |
| Retinitis pigmentosa 29 | |
| Autosomal dominant woolly hair | |
| Cervical clear cell adenocarcinoma | |
| Nonsyndromic congenital nail disorder | |
| Cornea plana | NT MGI. |
| craniofacial-deafness-hand syndrome | |
| Pterygium | A fleshy mass of thickened conjunctiva that grows over part of the cornea usually from the inner side of the eyeball and causes a disturbance of vision. |
| Idiopathic juvenile osteoporosis | An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. |
| Dilated cardiomyopathy 1A | |
| Naegeli-Franceschetti-Jadassohn syndrome | |
| Pancreatic squamous cell carcinoma | A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium. |
| Dermatopathia pigmentosa reticularis | |
| Juvenile myoclonic epilepsy 3 | |
| Urethra cancer | An urinary tract cancer that derives_from the tissues of the urethra. |
| Ameloblastoma | A cell type benign neoplasm that has_material_basis_in odontogenic epithelium. |
| Cribriform carcinoma | |
| Steatocystoma multiplex | Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities). |
| Bladder adenocarcinoma | A bladder carcinoma that derives_from epithelial cells of glandular origin. |
| Granular corneal dystrophy | |
| Brunner Syndrome | |
| Acinar cell carcinoma | A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells. |
| Corneal ectasia | |
| Keratosis follicularis | OMIM mapping confirmed by DO. [SN]. |
| Thiel-Behnke corneal dystrophy | Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment. |
| Irregular astigmatism | |
| Keratopathy | |
| Van den Ende-Gupta syndrome | Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. |
| Epidermolytic palmoplantar keratoderma | |
| Keratosis follicularis spinulosa decalvans | Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma. |
| Neuroendocrine carcinoma | A carcinoma that derives_from neuroendocrine cells. |
| Postmenopausal atrophic vaginitis | |
| Achalasia | An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing. |
| Syndromic microphthalmia 3 | |
| Keratosis pilaris atrophicans | |
| Keratinizing squamous cell carcinoma | A squamous cell carcinoma that presents as single, isolated cells with bizzare cytoplasmic shapes, intense cytoplasmic eosinophilia, and intensely hyperchromatic, angular nuclei in a background of necrotic and keratinous debris. |
| Adamantinous craniopharyngioma | |
| Dermatofibrosarcoma protuberans | A fibrosarcoma that is located_in the dermis laryer of the skin and that begins as a hard nodule and grows slowly. |
| Cervical adenocarcinoma | A cervix carcinoma that derives_from epithelial cells of glandular origin. |
| Lateral meningocele syndrome | |
| Sweat gland benign neoplasm | |
| Prune belly syndrome | |
| Char syndrome | |
| Branchiooculofacial syndrome | An autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts. |
| Sclerocornea | A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea. |
| Combined oxidative phosphorylation deficiency 4 | |
| Lobular neoplasia | |
| Cleft palate-lateral synechia syndrome | |
| Acute hemorrhagic leukoencephalitis | A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema. |
| Piebaldism | OMIM mapping confirmed by DO. [SN]. |
| Drug psychosis | |
| drug-induced mental disorder | |
| Exposure keratitis | |
| Spasmodic dystonia | A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech. |
| Nephrosclerosis | |
| Intraocular retinoblastoma | A retinoblastoma that is located_in the eye and has not spread to other parts of the body. |
| Multiple endocrine neoplasia type 1 | An autosomal dominant disease that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas. |
| Buphthalmos | OMIM mapping confirmed by DO. [LS]. |
| Hydrophthalmos | |
| substance-induced psychosis | |
| Delayed sleep phase syndrome | disease cluster belonging to disease group neurological |
| Advanced sleep phase syndrome | A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning. |
| Seasonal affective disorder | A mental depression that involves presentation of depressive symptoms only during a specific season of the year. |
| Nocturnal asthma | disease cluster belonging to disease group immune |
| Restless legs syndrome | A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them. |
| Xeroderma pigmentosum group A | |
| Advanced sleep phase syndrome 1 | |
| Potocki-Lupski syndrome | |
| Fatal familial insomnia | OMIM mapping confirmed by DO. [SN]. |
| Common variable immunodeficiency 2 | |
| Conn's syndrome | An adrenal admenoma characterized by over production of aldosterone. |
| Porokeratosis | Xref MGI. |
| Adrenal adenoma | An endocrine organ benign neoplasm that is a benign tumor of the glandular type (adenoma) in the adrenal gland. |
| Heroin dependence | An opiate dependence that involves the continued use of heroin despite problems related to use of the substance. |
| Social phobia | |
| Variegate porphyria | |
| Hepatoerythropoietic porphyria | |
| Phobic disorder | An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation. |
| Brachydactyly type A1 | |
| Bruxism | A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping. |
| Hereditary coproporphyria | OMIM mapping confirmed by DO. [SN]. |
| Carpal tunnel syndrome 2 | |
| Neuronal ceroid lipofuscinosis 5 | |
| Placental abruption | A placenta disease that is characterized by separation of the placental lining from the uterus of the mother. |
| Central sleep apnea | A sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing. |
| cone-rod dystrophy 2 | |
| estrogen-receptor negative breast cancer | |
| Atrial heart septal defect 9 | |
| Oppositional defiant disorder | |
| Xeroderma pigmentosum group G | |
| Kleine-Levin syndrome | A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior. |
| Tukel syndrome | |
| Recurrent hypersomnia | A sleep disorder that involves recurring bouts of excessive amounts of sleepiness. |
| Thyroid dyshormonogenesis 6 | |
| Wrinkly skin syndrome | Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism). |
| Nephronophthisis 14 | |
| Abdominal obesity-metabolic syndrome 1 | |
| Ovarian embryonal carcinoma | An embryonal carcinoma that is located_in the ovary. |
| ACTH-independent macronodular adrenal hyperplasia | ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS; see this term) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS (see this term). |
| Abdominal obesity-metabolic syndrome | |
| Psoriasis 4 | |
| Retinitis pigmentosa 86 | |
| Mite infestation | A parasitic ectoparasitic infectious disease that involves infestation of mites belonging to the family Sarcoptidae, Trombiculidae and Demodicidae. |
| 3MC syndrome 3 | |
| Familial febrile seizures 11 | |
| Trombiculiasis | |
| Trench fever | A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted_by body lice (Pediculus humanus corporis). The infection has_symptom relapsing fever, has_symptom headache, has_symptom shin pain, and has_symptom soreness of the muscles of the legs and back. |
| Leber congenital amaurosis 3 | |
| Familial temporal lobe epilepsy 5 | |
| Posterior scleritis | |
| Inflammatory bowel disease 6 | |
| Juvenile absence epilepsy 1 | |
| Zika fever | |
| West Nile fever | A viral infectious disease that results_in infection, has_material_basis_in West Nile virus, which is transmitted_by Culex and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom body ache, has_symptom nausea, has_symptom maculopapular rash and has_symptom vomiting. |
| Eastern equine encephalitis | A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted_by Aedes, transmitted_by Coquillettidia, and transmitted_by Culex species of mosquitoes. The infection has_symptom sudden onset of headache, has_symptom high fever, has_symptom chills, has_symptom vomiting, has_symptom disorientation, has_symptom seizures, and has_symptom coma. |
| Her2-receptor negative breast cancer | |
| Hypotrichosis 3 | |
| Primary biliary cholangitis 5 | |
| Rheumatic fever | |
| Human granulocytic anaplasmosis | An ehrlichiosis that results_in infection located_in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted_by lone start tick (Amblyomma americanum ). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash. |
| Primary biliary cholangitis 1 | |
| Cicatricial entropion | |
| Meningococcal meningitis | |
| Periarthritis | |
| Microsporidiosis | An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members. |
| Impetigo | A pyoderma consisting of three forms of skin lesions having either a thick, adherent, recurrent, dirty yellow crust with an erythematous margin (common or superficial impetigo) or lessions which are superficial, thin-walled, and bullous as found in bullous impetigo. The lesions in bullous (staphylococcal) impetigo, which are always caused by S aureus, are superficial, thin-walled, and bullous. |
| Blau syndrome | An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas caused_by NOD2/CARD15 mutations. |
| Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis | |
| Podoconiosis | |
| Alkhurma hemorrhagic fever | |
| Orthostatic proteinuria | |
| Thymic dysplasia | |
| Plasmodium vivax malaria | A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals. |
| Fasciitis | |
| Hereditary spastic paraplegia 61 | |
| Immunodeficiency 51 | |
| Hereditary spastic paraplegia 73 | |
| Hereditary spastic paraplegia 10 | |
| Autosomal dominant osteopetrosis 2 | |
| Hereditary spastic paraplegia 28 | |
| Hereditary spastic paraplegia 17 | |
| Hereditary spastic paraplegia 18 | |
| Lung sarcomatoid carcinoma | |
| Jackson-Weiss syndrome | |
| Hereditary spastic paraplegia 39 | |
| Adenosquamous carcinoma | A squamous cell carcinoma that contains squamous cells and gland-like cells. |
| Hereditary spastic paraplegia 35 | |
| beta-thalassemia intermedia | Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion. |
| Cohen syndrome | Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity. |
| Late onset Parkinson's disease | |
| Perlman syndrome | |
| Retinal dystrophy with leukodystrophy | |
| Clark-Baraitser syndrome | |
| Postsurgical hypothyroidism | |
| Dirofilariasis | A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions. |
| Dopamine beta-hydroxylase deficiency | |
| Retinitis pigmentosa 1 | |
| Adult dermatomyositis | |
| Adrenal cortical adenoma | An adrenal adenoma that is a benign tumor of the adrenal cortex. |
| Hyperprolactinemia | An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood. |
| Diffuse midline glioma, H3 K27M-mutant | |
| Histone mutated tumor | |
| Mucinous lung adenocarcinoma | |
| Macular keratitis | |
| O'nyong'nyong fever | |
| Alzheimer's disease 17 | |
| Mammary analogue secretory carcinoma | |
| Angiosarcoma | A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma. |
| Congenital mesoblastic nephroma | |
| Sarcomatoid carcinoma | |
| Neurotrophic keratoconjunctivitis | |
| Lung large cell carcinoma | |
| Fibrous histiocytoma | |
| Histiocytoma | A neoplasm consisting of histiocytes. Forms include BENIGN FIBROUS HISTIOCYTOMA; and MALIGNANT FIBROUS HISTIOCYTOMA (MeSH) |
| Follicular lymphoma | A non-Hodgkin lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts). |
| Hairy cell leukemia | |
| Marginal zone lymphoma | |
| Proliferative glomerulonephritis | |
| Large cell neuroendocrine carcinoma | |
| Plasma cell leukemia | |
| Choroid cancer | |
| Pleomorphic carcinoma | A carcinoma that is consisting of spindle or giant cells (or both) combined with squamous cell carcinoma, adenocarcinoma, or large-cell carcinoma. |
| Malignant iris melanoma | |
| Spondylitis | |
| Gastrointestinal carcinoma | A gastrointestinal system cancer that has_material_basis_in epithelial cells. |
| Testicular lymphoma | |
| Peritoneal mesothelioma | A peritoneum cancer that develops from cells of the mesothelium and is located_in the peritoneum. |
| Iris cancer | |
| MHC class II deficiency | OMIM mapping confirmed by DO. [SN]. |
| Smoldering myeloma | A multiple myeloma that is a slow growing type of myeloma in which abnormal plasma cells results_in too much of a single type of monoclonal antibody. |
| Retinal macular dystrophy 2 | |
| Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue | |
| Diffuse scleroderma | |
| Miyoshi muscular dystrophy 3 | |
| Malignant fibrous histiocytoma | Undifferentiated pleomorphic sarcoma (UPS) is an aggressive sarcoma of soft tissues or bone that can arise from any part of the body, clinically presenting as swelling, mass, pain, pathological fracture and occasional systemic features and is characterized by high local recurrence and significant metastasis. |
| Benign giant cell tumor | |
| Adult lymphoma | |
| Macroglobulinemia | |
| Blastoma | A malignant neoplasm composed of undifferentiated cells. |
| Histiocytosis | A lymphatic system disease that is characterized by an excessive number of histiocytes. |
| Pulmonary blastoma | An embryoma and malignant neoplasm of lung that derives_from tissues of the lung and derives_from pleura (a thin layer of tissue that covers the lungs and lines the interior wall of the chest cavity). It is most commonly effects children. |
| EZB diffuse large B-cell lymphoma | |
| Angioimmunoblastic T-cell lymphoma | |
| Chronic leukemia | A leukemia that develops slowly. |
| Cryptogenic organizing pneumonia | An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope. |
| Localized scleroderma | |
| Cellular congenital mesoblastic nephroma | |
| Nephroma | |
| Breast medullary carcinoma | |
| Nonphotosensitive trichothiodystrophy 7 | |
| Superficial keratitis | |
| Anisakiasis | A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung. |
| lipofibromatosis-like neural tumor | |
| Adenosquamous lung carcinoma | |
| Kidney cortex disease | |
| Acute biphenotypic leukemia | |
| Lymphoplasmacytic lymphoma | A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells. |
| Mooren's ulcer | |
| Diffuse astrocytoma | |
| Central nervous system lymphoma | A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system. |
| Graves ophthalmopathy | |
| Central nervous system hematologic cancer | |
| Gastric mucosal hypertrophy | OMIM mapping confirmed by DO. [SN]. |
| Papillary adenocarcinoma | An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures and exhibit compressive, destructive growth that replaces the normal tissue. |
| Extrapulmonary tuberculosis | A tuberculosis that occurs at body sites other than the lung. |
| Ganglioglioma | |
| Cutaneous fibrous histiocytoma | |
| Elephantiasis | |
| Mediastinal cancer | A thoracic cancer that is located_in the mediastinum. |
| Bone giant cell tumor | A giant cell tumor and bone cancer and bone tissue neoplasm that results_in the presence of multinucleated giant cells (osteoclast-like cell). |
| Thymic carcinoma | A thymus cancer that derives_from epithelial cells. The tumor cells in a thymic carcinoma look very different from the normal cells of the thymus, grow more quickly, and have usually spread to other parts of the body when the cancer is found. |
| Immunodeficiency 28 | |
| Mycosis fungoides | OMIM mapping confirmed by DO. [SN]. |
| Peeling skin syndrome 3 | |
| Nodal marginal zone lymphoma | |
| Langerhans-cell histiocytosis | A histiocytosis that is characterized by clonal proliferation of Langerhans cells. |
| Trichinosis | A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi . Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur. |
| Primary mediastinal B-cell lymphoma | |
| Isolated ectopia lentis | |
| Appendix adenocarcinoma | An appendix carcinoma that derives_from epithelial cells of glandular origin. |
| Urinary system benign neoplasm | An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra. |
| Papillon-Lefevre disease | OMIM mapping confirmed by DO. [SN]. |
| Primary hypomagnesemia | |
| non-Langerhans-cell histiocytosis | |
| Appendix carcinoma | An appendix cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| Myxoid liposarcoma | OMIM mapping confirmed by DO. [SN]. |
| Sarcomatoid mesothelioma | |
| Chronic lymphocytic leukemia/small lymphocytic lymphoma | |
| Xia-Gibbs Syndrome | |
| Infiltrating lipoma | |
| Autosomal dominant intellectual developmental disorder | |
| Laryngomalacia | Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration. |
| Spinal neurofibromatosis | |
| Pancreatic acinar cell adenocarcinoma | A pancreas adenocarcinoma that has_material_basis_in cells with morphological resemblance to acinar cells and is associated with increased serum lipase. |
| Spermatogenic failure 24 | |
| Pancreatic adenosquamous carcinoma | |
| Testicular thecoma | |
| Nephronophthisis 19 | |
| Celery allergy | |
| maturity-onset diabetes of the young type 9 | |
| Staphyloenterotoxemia | A primary bacterial infectious disease that results_in infection located_in intestine caused by eating food contaminated with enterotoxins produced by bacteria, has_material_basis_in Staphylococcus aureus. The infection has_symptom diarrhea, has_symptom vomiting, has_symptom nausea, has_symptom cramps, and has_symptom weakness. |
| maturity-onset diabetes of the young type 6 | |
| Vegetable allergy | |
| Splenic infarction | |
| Indolent systemic mastocytosis | |
| Mixed germ cell-sex cord neoplasm | |
| Aggressive systemic mastocytosis | |
| Balkan nephropathy | An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria. |
| Mosaic variegated aneuploidy syndrome 1 | |
| Barrett's adenocarcinoma | |
| Gillespie syndrome | |
| Apple allergy | |
| Spinocerebellar ataxia type 37 | |
| NESCAV syndrome | |
| Gluten allergy | |
| Chromosome 17q12 deletion syndrome | |
| Ovarian sex-cord stromal tumor | |
| Corticosterone methyloxidase deficiency 1 | |
| Gastrinoma | A neuroendocrine tumor that results_in an overproduction of gastric acid. |
| Osteogenesis imperfecta type 5 | Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term). |
| Pancreatic serous cystadenoma | |
| Pancreatic mucinous cystadenoma | |
| T-cell large granular lymphocyte leukemia | A chronic lymphocytic leukemia that exhibits an unexplained, chronic (> 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood. |
| Autosomal dominant intellectual developmental disorder 35 | |
| Autosomal dominant intellectual developmental disorder 13 | |
| Visual epilepsy | |
| Anauxetic dysplasia | OMIM mapping confirmed by DO. [SN]. |
| Spindle cell sarcoma | A sarcoma that results_in cells that are spindle-shaped. They are usually resistant to radiation therapy. |
| Partington syndrome | |
| Colonic pseudo-obstruction | |
| Functional colonic disease | |
| X-linked reticulate pigmentary disorder | |
| Differentiating neuroblastoma | |
| Aicardi syndrome | A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye. |
| Pancreatic gastrinoma | |
| Duodenal gastrinoma | |
| Presbyopia | |
| Oophoritis | |
| Huntington's disease-like 2 | |
| Spindle cell rhabdomyosarcoma | |
| Somatostatinoma | |
| cartilage-hair hypoplasia | OMIM mapping confirmed by DO. [SN]. |
| Chromosome 17q11.2 deletion syndrome | |
| KINSSHIP syndrome | |
| Pulmonary adenocarcinoma in situ | |
| Lung carcinoma in situ | |
| Autosomal dominant intellectual developmental disorder 7 | |
| Alpha thalassemia-intellectual disability syndrome type 1 | |
| Primary autosomal recessive microcephaly 17 | |
| Squamous cell neoplasm | A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities. |
| Borjeson-Forssman-Lehmann syndrome | An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene. |
| Primary autosomal recessive microcephaly 5 | |
| Anaplastic pleomorphic xanthoastrocytoma | |
| Ohdo syndrome | |
| Paralytic poliomyelitis | A poliomyelitis that results_in destruction located_in motor neurons of central nervous system, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom loss of reflexes, has_symptom muscle spasms, and has_symptom acute flaccid paralysis. |
| Neuroectodermal tumor | |
| Acrodermatitis | |
| Common wart | A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection has_symptom raised wart with roughened surface, most common on hands, but can grow anywhere on the body. |
| T-cell adult acute lymphocytic leukemia | |
| Miliary tuberculosis | An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs. |
| Anus cancer | A large intestine cancer that is located_in the anus. |
| Secondary syphilis | A syphilis that is characterized as the second stage of syphilis which appears from 2 to 6 months after primary infection, and is marked by lesions especially in the skin but also in organs and tissues, and that lasts from 3 to 12 weeks. |
| Blastic plasmacytoid dendritic cell neoplasm | |
| Oral hairy leukoplakia | |
| Fruit allergy | |
| Molluscum contagiosum | A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center. |
| Legume allergy | |
| Peanut allergy | |
| Mpox | |
| Posterior uveitis | |
| Pulmonary eosinophilia | |
| Pemphigus vulgaris | An autoimmune blistering disorder. It is characterized by the presence of painful blisters and erosions in the skin and mucous membranes. |
| Poliomyelitis | A viral infectious disease that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, has_symptom muscle spasms, and has_symptom acute flaccid paralysis. |
| Nocardiosis | An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in Nocardia asteroides. The infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy. |
| Primary cutaneous gamma-delta T-cell lymphoma | |
| Tertiary syphilis | A syphilis that is characterized as the third stage of syphilis that develops after the disappearance of the secondary symptoms and is marked by ulcers and gummas under the skin and commonly by involvement of the skeletal, cardiovascular, and nervous systems. |
| Primary syphilis | A syphilis that is the first stage of syphilis, marked by the development of a chancre, which is characterized by mononuclear leukocytic infiltration, macrophages, and lymphocytes. |
| Pleural tuberculosis | An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac. |
| Exanthem | |
| Polyclonal hypergammaglobulinemia | |
| Strongyloidiasis | A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis. |
| Cryoglobulinemia | A condition characterized by the presence of cryoglobulins in the blood. Cryoglobulins are abnormal proteins that precipitate within the microvasculature on exposure to cold; microvasculature effects of cryoglobulinemia may result in restricted tissue blood flow, tissue hypoxia, and tissue necrosis. --2004 |
| Hepatosplenic T-cell lymphoma | |
| Anal carcinoma | A anus cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anus. |
| Proctitis | Proctitis is an inflammation of the rectum. |
| Pollen allergy | disease cluster belonging to disease group immune |
| Intestinal schistosomiasis | A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia. |
| Neurosarcoidosis | |
| Cystoisosporiasis | A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss. |
| immune-complex glomerulonephritis | |
| Exanthema subitum | A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human herpesvirus 6 or has_material_basis_in Human herpesvirus 7 and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck. |
| Giardiasis | A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting. |
| T-cell prolymphocytic leukemia | |
| Tuberculoid leprosy | A leprosy that results in one erythematous large plaque with well-defined borders that are elevated and that slope down into an atrophic center. |
| Histiocytic and dendritic cell cancer | A sarcoma and hematologic cancer that derives_from follicular lymphoma. |
| Egg allergy | A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms. |
| Urethritis | |
| Good syndrome | An agammaglobulinemia that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma. |
| Cowpox | A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus, which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face. |
| Chronic spontaneous urticaria | |
| Aggressive NK-cell leukemia | |
| Myeloid sarcoma | |
| Follicular mucinosis | |
| Asymptomatic neurosyphilis | A tertiary neurosyphilis that results_in mild meningitis. |
| Polyarteritis nodosa | |
| Hemorrhagic cystitis | |
| Bacillary angiomatosis | |
| Cervicitis | |
| Tertiary neurosyphilis | A tertiary syphilis that results_in infection located_in brain or located_in spinal cord. |
| Swine influenza | An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea. |
| Dermatitis herpetiformis | |
| Chancroid | A primary bacterial infectious disease that is a sexually transmitted infection located_in skin of the genitals, has_material_basis_in Haemophilus ducreyi, which is transmitted_by sexual contact. The infection has_symptom painful and soft ulcers. |
| Multicentric Castleman disease | |
| Spongiotic dermatitis | |
| Granuloma inguinale | A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers. |
| Evans' syndrome | |
| Intermediate uveitis | |
| Urethral disease | A urinary system disease that is located_in the urethra. |
| Anal squamous cell carcinoma | An anal carcinoma that arises near the squamocolumnar junction. |
| Autoimmune glomerulonephritis | |
| Diffuse infiltrative lymphocytosis syndrome | A syndrome that occurs in human immunodeficiency virus (HIV) positive patients, which is accompanied by decreased kidney function. The spectrum of kidney involvement includes acute or chronic kidney disease, primarily tubular proteinuria and dense lymphocytic tubulointerstitial infiltrates predominantly composed of CD8 T cells. |
| Skin sarcoidosis | |
| Scabies | A mite infestation that is a contagious ectoparasite skin infection caused by human itch mite Sarcoptes scabiei type hominis, which burrows into the upper layer of the skin but never below the stratum corneum causing severe itching and a rash found on the hands, folds of the wrist, elbow or knee, penis, breast, and shoulder blades. |
| Alopecia universalis | |
| Histiocytic sarcoma | |
| Parapsoriasis | |
| Dysgammaglobulinemia | A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins. |
| Selective immunoglobulin deficiency disease | |
| Metal allergy | |
| farmer's lung | An extrinsic allergic alveolitis which is induced by the inhalation of spores (Aspergillus sp and thermophilic actinomycetes) in dust from moldy hay or straw. It is characterized by sudden onset, fever, cough, expectoration, and breathlessness. |
| Granuloma annulare | |
| Venezuelan equine encephalitis | A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region. |
| Lymphogranuloma venereum | A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis. |
| Pyoderma gangrenosum | |
| Mikulicz disease | |
| Iritis | |
| Lymphomatoid granulomatosis | |
| Erysipelas | |
| Granulomatous dermatitis | |
| Borna disease | A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus, which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment. |
| Cardiac sarcoidosis | |
| Optic papillitis | |
| Sympathetic ophthalmia | |
| Papilledema | |
| Persistent generalized lymphadenopathy | |
| Epidermodysplasia verruciformis | An autosomal recessive disease that results_in skin squamous cell carcinoma located_in skin, associated with a high risk of carcinoma. It is characterized by abnormal susceptibility to human papillomaviruses of the skin and has_symptom lesions on the body. |
| Sweet syndrome | |
| Whipple disease | |
| Birdshot chorioretinopathy | Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia. |
| Chronic eosinophilic pneumonia | An eosinophilic pneumonia which slowly progresses over weeks to months. Life-threatening shortness of breath can develop if the condition is not treated. Individuals are often diagnosed with asthma before the advent of this disease. |
| Limbic encephalitis | |
| Granulomatous hepatitis | |
| Mycoplasma pneumoniae pneumonia | |
| Acute erythroid leukemia | |
| Erythroleukemia | |
| Parotid disease | |
| Parotitis | A parotid disease characterized by the inflammation of one or both parotid glands. |
| Pemphigus foliaceus | |
| beta-lactam allergy | |
| Lymph node tuberculosis | An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough. |
| Penicillin allergy | |
| X-linked lymphoproliferative syndrome 1 | |
| X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia | |
| Syphilitic meningitis | |
| Bird fancier's lung | An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen. |
| Polyradiculopathy | |
| Infantile hypophosphatasia | |
| Berylliosis | A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds. |
| Progressive relapsing multiple sclerosis | |
| Felty's syndrome | A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia. |
| Cardiac tamponade | A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch. |
| Breast implant-associated anaplastic large cell lymphoma | |
| Reticulosarcoma | OMIM mapping confirmed by DO. [SN]. |
| Acute interstitial pneumonia | A idiopathic interstitial pneumonia which develops suddenly and is severe. Initially, the lung shows edema, hyaline membranes, and interstitial acute inflammation. Later,it develops loose organizing fibrosis, mostly within alveolar septa and type II pneumocyte hyperplasia. Fever, cough, and difficulty breathing develop over 1 to 2 weeks, typically progressing to acute respiratory failure. |
| Borst-Jadassohn intraepidermal carcinoma | |
| Viral exanthem | |
| Lymphoid interstitial pneumonia | An idiopathic interstitial pneumonia which involves diffuse interstitial infiltration of involved areas mostly with T lymphocytes, plasma cells, and macrophages. Lymphoid hyperplasia is frequently seen. Onset is often slow with gradually increasing cough and breathlessness over 3 or more years. Fever, weight loss, chest pain, and arthralgia are occasionally found. Crackles may be detected as the disease progresses. |
| Cervical adenitis | |
| Pericardial tuberculosis | An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction. |
| Norwegian scabies | A scabies that involves infestation of human itch mite Sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied by abundant mites but only slight itching. |
| Mismatch repair cancer syndrome | |
| Superficial basal cell carcinoma | |
| Irritant dermatitis | |
| cat-scratch disease | A primary bacterial infectious disease that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain. |
| Epidermolysis bullosa acquisita | |
| Polycythemia vera | |
| drug-induced hepatitis | |
| Mononeuritis | |
| Splenic sequestration | |
| Eye lymphoma | A lymphoma by site that is manifested in immune system cells called lymphocytes. |
| Intraocular lymphoma | |
| Mononeuritis of upper limb and mononeuritis multiplex | |
| Kimura disease | |
| Trichuriasis | A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation. |
| Mononeuritis multiplex | |
| Miller Fisher syndrome | A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia. |
| Croup | A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus. |
| Necrotizing ulcerative gingivitis | |
| Gastric lymphoma | |
| Latent autoimmune diabetes in adults | |
| Necrotizing fasciitis | |
| Cerebral lymphoma | A cerebrum cancer that affects the lymph cells and derives_from the brain. |
| Ventilation pneumonitis | An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease. |
| Mediastinitis | |
| Urinary schistosomiasis | A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer. |
| Chronic inflammatory demyelinating polyradiculoneuropathy | |
| Thymoma type B | |
| Ocular tuberculosis | |
| Paraneoplastic pemphigus | |
| Blepharoconjunctivitis | A blepharitis that is characterized by the dual combination of conjunctivitis with blepharitis. |
| Pityriasis rubra pilaris | OMIM mapping confirmed by DO. [SN]. |
| Autoimmune peripheral neuropathy | |
| Glossitis | |
| Transient hypogammaglobulinemia | |
| Ulcerative stomatitis | |
| Systemic mastocytosis | |
| Composite lymphoma | A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time. |
| Eczema herpeticum | A herpes simplex that results_in infection located_in skin, effected by preexisting dermatosis, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2. The infection has_symptom watery blisters, has_symptom fever, and has_symptom swelling of the lymph nodes. |
| Tracheitis | A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions. |
| Arachnoiditis | |
| Bursitis | |
| Gastrointestinal lymphoma | |
| African histoplasmosis | A histoplasmosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of nodules, results_in_formation_of ulcers and results_in_formation_of osteolytic bone lesions. |
| X-linked lymphoproliferative syndrome 2 | |
| Intermittent asthma | |
| Relapsing polychondritis | |
| Lethal midline granuloma | |
| Periapical periodontitis | |
| Pars planitis | OMIM mapping confirmed by DO. [SN]. |
| Lymphoproliferative syndrome 2 | |
| Chondromalacia | |
| Wheat allergy | |
| Childhood lymphoma | |
| Suppurative otitis media | A otitis media which involves inflammation of the middle ear with infected effusion containing pus. |
| lymphoepithelioma-like carcinoma | A carcinoma that is a malignant epithelial neoplasm densely infiltrated by lymphoid cells. |
| Amelogenesis imperfecta type 1B | |
| Scarlet fever | An upper respiratory tract disease described as an acute contagious disease caused by Group A bacteria of the genus Streptococcus (especially various strains of S. pyogenes) and characterized by inflammation of the nose, throat, and mouth, generalized toxemia, and a red rash. |
| Cicatricial pemphigoid | A bullous skin disease characterized by skin lesions and scaring and located_in mucous membranes and located_in skin. |
| Pustulosis of palm and sole | |
| beta-thalassemia major | Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions. |
| Dendritic cell sarcoma | A histiocytic and dendritic cell cancer that is mainly located_in lymph nodes. |
| Suppurative lymphadenitis | |
| Acalculous cholecystitis | |
| Immunodeficiency 16 | |
| Encephalitozoonosis | A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem. |
| Lung lymphoma | |
| Loiasis | A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis. |
| CD40 ligand deficiency | A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE. |
| Chordoma | A notochordal cancer that derives_from cellular remnants of the notochord. |
| Immunodeficiency 35 | |
| X-Linked immunodeficiency 74 | |
| Notochordal cancer | An embryonal cancer and bone cancer and mesenchymal cell neoplasm that is located_in the notochord. |
| Pyomyositis | |
| Pneumonic tularemia | A tularemia that is located_in lungs. The bacteria are transmitted_by breathing dusts or aerosols containing the organisms. The infection has_symptom cough, has_symptom chest has_symptom pain, and has_symptom difficulty breathing. |
| Tricuspid valve disease | |
| Nut allergy | |
| Tricuspid valve insufficiency | A tricuspid valve disease that is characterized by failure of the heart's tricuspid valve to close properly during systole. As a result, with each heart beat, blood is pumped out from the right side of the heart in the opposite direction to normal. |
| Hepatitis D | A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus. The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma. |
| Chilblain lupus | |
| Severe combined immunodeficiency with sensitivity to ionizing radiation | |
| Fibrosarcoma of bone | |
| Constrictive pericarditis | |
| Central nervous system tuberculosis | An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord. |
| Glanders | A primary bacterial infectious disease that results_in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted_by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has_symptom fever, has_symptom chills, has_symptom sweating, has_symptom muscle aches, has_symptom chest pain, has_symptom muscle tightness, has_symptom headache, has_symptom mucopurulent nasal discharge, and has_symptom nodular lesions in the lungs. |
| HELLP syndrome | A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count. |
| Autoimmune cardiomyopathy | |
| Conjunctival squamous cell carcinoma | |
| Dyskinesia of esophagus | |
| CD3gamma deficiency | A severe combined immunodeficiency an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected. |
| Photosensitivity disease | |
| Erythema infectiosum | |
| Herpes simplex virus keratitis | |
| Anuria | |
| Hantavirus pulmonary syndrome | A viral infectious disease that results_in infection located_in lung, has_material_basis_in Sin Nombre virus, transmitted_by deer mouse (Myodes glareolus), has_material_basis_in Black Creek Canal virus, transmitted_by cotton rat (Sigmodon hispidus), has_material_basis_in Bayou virus, transmitted_by marsh rice rat (Oryzomys palustris), has_material_basis_in Laguna Negra virus, transmitted_by small vesper mouse (Calomys laucha), or has_material_basis_in Andes virus, transmitted_by rice rat (Oligoryzomys longicaudatus). The infection has_symptom fever, has_symptom muscle pain, has_symptom headache, has_symptom cough, has_symptom vomiting, has_symptom chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications. |
| Tabes dorsalis | A tertiary neurosyphilis that results_in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has_symptom intense, stabbing pain in the back and legs that recurs irregularly, has_symptom gait ataxia, has_symptom hyperesthesia, has_symptom paresthesia, has_symptom loss of bladder sensation leading to urine retention, has_symptom erectile dysfunction. |
| Urogenital tuberculosis | An extrapulmonary tuberculosis that is located_in urogenital system. |
| Lambert-Eaton myasthenic syndrome | A neuromuscular junction disease that results from an abnormality of acetylcholine (ACh) release at the neuromuscular junction. It results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal. |
| Gastric ulcer | A peptic ulcer of the gastric mucosa. |
| Spleen cancer | A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen. |
| Lichen nitidus | |
| Conjunctival cancer | |
| Heart aneurysm | |
| Coronary aneurysm | |
| Plantar wart | A viral infectious disease that results_in benign epithelial tumors located_in skin of the sole or toes of the foot, has_material_basis_in human papillomavirus (types 1, 2, 4 or 63), has_symptom lesions that appear on the sole of the foot. |
| Transient hypogammaglobulinemia of infancy | |
| Cow milk allergy | Hypersensitivity in form of an adverse immune reaction against cow milk protein. |
| Uveoparotid fever | |
| Breast lymphoma | |
| Gastroesophageal junction adenocarcinoma | |
| Follicular dendritic cell sarcoma | A dendritic cell sarcoma cancer that effects the follicular dendritic cells. |
| Shellfish allergy | |
| Cough variant asthma | An asthma that is characterized by chronic nonproductive cough without shortness of breath. |
| Richter's syndrome | |
| Mitral valve insufficiency | |
| Granulomatous angiitis | |
| Abducens nerve palsy | |
| Right bundle branch block | |
| Marburg hemorrhagic fever | A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Marburgvirus, which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding. |
| Interstitial keratitis | |
| Splenic marginal zone lymphoma | A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp. |
| Thymoma type B2 | |
| epididymo-orchitis | |
| Fascioliasis | A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Fasciola hepatica or Fasciola gigantica. During the acute phase, manifestations include abdominal pain, hepatomegaly, fever, vomiting, diarrhea, urticaria and eosinophilia. Occasionally, infection occurs in intestinal wall, lungs, subcutaneous tissue, and pharyngeal mucosa. |
| relapsed/refractory diffuse large B-cell lymphoma | |
| Melanoma in congenital melanocytic nevus | |
| Purine nucleoside phosphorylase deficiency | A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder caused by a mutaion in the PNP gene and characterized mainly by decreased T-cell function. |
| Epidural abscess | Epidural abscess is a CNS abscess characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine. The abscess causes swelling in the area. Epidural abscess is a rare disorder caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges). This infectious disease is called an intracranial epidural abscess if it is inside the skull area, or a spinal epidural abscess if it is found in the spine area. Nine out of 10 cases are located in the spine. |
| Eosinophilic gastritis | |
| Epithelial malignant thymoma | |
| Chemical colitis | |
| Periapical granuloma | |
| Acanthoma | |
| Gastroduodenitis | |
| Seborrheic keratosis | OMIM mapping confirmed by DO. [SN]. |
| Autoimmune lymphoproliferative syndrome type 2B | |
| Crustacean allergy | |
| Epiglottitis | An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor. |
| Neurogenic bladder | |
| Enthesopathy | |
| Dedifferentiated liposarcoma | |
| CD3delta deficiency | A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development. |
| Myxedema | OMIM mapping confirmed by DO. [SN]. |
| Hemosiderosis | An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload. |
| Chronic purulent otitis media | A suppurative otitis media which is persistent and long-lasting. |
| Anthracosis | |
| Breast abscess | |
| Porphyria cutanea tarda | An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin. |
| Shrimp allergy | |
| Purulent endophthalmitis | |
| Nodular goiter | |
| Ectropion | |
| Skeletal tuberculosis | An extrapulmonary tuberculosis that results in formation of lesions located_in bone. |
| Nodular malignant melanoma | A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule. |
| Rheumatoid arthritis interstitial lung disease | |
| Intravascular large B-cell lymphoma | |
| Megaloblastic anemia | A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production. |
| Congenital heart block | OMIM mapping confirmed by DO. [SN]. |
| Dermatographia | An urticaria induced by stroking of the skin. |
| Panophthalmitis | |
| Inappropriate ADH syndrome | |
| Systemic Epstein-Barr virus positive T-cell lymphoma of childhood | |
| Protein S deficiency | |
| Anterior ischemic optic neuropathy | |
| Aortic valve insufficiency | An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle. |
| Smooth muscle tumor | |
| Dendritic cell deficiency | |
| Spindle cell thymoma | |
| Papillary conjunctivitis | |
| Central retinal artery occlusion | A retinal artery occlusion characterized by blockage of blood flow through the central retinal artery. |
| Clonorchiasis | A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop. |
| Compartment syndrome | |
| Anaplastic oligodendroglioma | |
| cork-handlers' disease | |
| Multinodular goiter | A goiter characterized by a multinodular enlargement of the thyroid gland. |
| Chronic orbital inflammation | |
| Vulva squamous cell carcinoma | A vulva carcinoma and has_material_basis_in squamous cells and is located_in the epidermis of the vulvar tissue. |
| Rhabdoid cancer | A childhood kidney neoplasm that is located_in the in the kidney as well as other locations outside the kidneys such as the liver, muscle, heart, lung, soft tissues, skin, the central nervous system. |
| Granulomatous myositis | |
| Acrodermatitis chronica atrophicans | |
| Polyomavirus-associated nephropathy | |
| Scurvy | OMIM mapping confirmed by DO. [SN]. |
| Gingival overgrowth | |
| Acute cervicitis | |
| Juvenile xanthogranuloma | |
| Orbital plasma cell granuloma | |
| Atrophic rhinitis | A rhinitis which involves inflammation of the nose characterised by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine imbalance, nutritional deficiency, bacterial infection and autoimmune issues. |
| Acute gonococcal cervicitis | |
| Atrophic glossitis | |
| Multiple cranial nerve palsy | |
| Langerhans cell sarcoma | A histiocytic and dendritic cell cancer that derives_from the lymph nodes, derives_from the skin, derives_from the liver, derives_from the spleen and derives_from bones. |
| Carbuncle | |
| Tetanus neonatorum | A tetanus that occurs in newborn babies when the birth cord stump gets dirty through cutting it with an unclean blade or applying substances containing bacteria to it. The infection has_symptom stiff body, has_symptom muscle spasms, has_symptom difficulty in breathing, and has_symptom exhaustion. |
| Immunodeficiency 11A | |
| Reticular dysgenesis | A severe combined immunodeficiency that is the most severe form of SCID and is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions. |
| Fungal esophagitis | |
| Extramedullary plasmacytoma | |
| Epithelioid sarcoma | |
| Acute poststreptococcal glomerulonephritis | |
| Nasal type extranodal NK/T-cell lymphoma | |
| Hodgkin's lymphoma, nodular sclerosis | |
| Obstructive hydrocephalus | |
| Thyroid gland anaplastic carcinoma | |
| Glossopharyngeal nerve disease | |
| Adjustment disorder | A disease of mental health that is an abnormal and excessive emotional and behavioral reaction to a life stress that develops within 3 months of a life stress, and which is stronger or greater than what would be expected for the type of event that occurred. |
| CD45 deficiency | A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age. |
| Entropion | |
| Brachydactyly type D | |
| Caplan's syndrome | A pneumoconiosis that results_in humans that also have rheumatoid arthritis. |
| Amyotrophic neuralgia | OMIM mapping confirmed by DO. [SN]. |
| Cercarial dermatitis | A schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, Austrobilharzia variglandis. The disease has_symptom skin reddening, has_symptom skin itching, in the water or immediately after emerging and has_symptom itchy, raised papules, occur within hours of infection. |
| Giant papillary conjunctivitis | |
| Latex allergy | disease cluster belonging to disease group immune |
| Funisitis | A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord. |
| Interdigitating dendritic cell sarcoma | A histiocytic and dendritic cell cancer and histiocytosis that effect dendritic cells. |
| Autoimmune optic neuritis | |
| Euthyroid sick syndrome | |
| Invasive malignant thymoma | |
| Chorioretinal scar | |
| Alexithymia | An agnosia that is a deficiency in understanding, processing, or describing emotions. |
| Cutaneous mastocytosis | |
| Acute myeloid leukemia with minimal differentiation | |
| Ecthyma | |
| Hyperimmunoglobulinemia D periodic fever syndrome | |
| Lipid pneumonia | An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent. |
| Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| post-vaccinal encephalitis | |
| IDH-wildtype glioblastoma | |
| Argentine hemorrhagic fever | A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations. |
| Malignant spindle cell melanoma | A melanoma that is most commonly located_in sun-exposed skin and results_in_formation_ of spindle-like shaped cells that have a high recurrence rate even with treatment. |
| Yellow nail syndrome | A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached. |
| Necrobiosis lipoidica | |
| Peach allergy | |
| Endomyocardial fibrosis | |
| Gray zone lymphoma | A lymphoma that is characterized by having cellular features of both classic Hodgkin's lymphomas and large B-cell Lymphomas. |
| Coronary artery vasospasm | |
| Aleukemic leukemia | A leukemia that arises from changes in the tissues forming white blood cells and characterized by a normal or decreased number of white blood cells in the circulating blood. |
| Tubular adenocarcinoma | An adenocarcinoma that derives_from epithelial cells originating in glandular tissue. The tumor has branched angular tubules embedded in a loose fibrous stroma. |
| Chronic eosinophilic leukemia | |
| POEMS syndrome | |
| Acute inflammation of lacrimal passage | |
| Dacryocystitis | |
| Small intestine lymphoma | |
| Erythema elevatum diutinum | |
| Brain stem cancer | |
| Median rhomboid glossitis | |
| Congenital hypogammaglobulinemia | |
| Hemarthrosis | |
| Paragonimiasis | A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected. |
| Anal carcinoma in situ | |
| Cardiovascular syphilis | A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries. |
| Pemphigoid gestationis | |
| Mitral valve stenosis | A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart. |
| Thyroid lymphoma | |
| proteasome-associated autoinflammatory syndrome 1 | |
| proteosome-associated autoinflammatory syndrome | |
| Focal chorioretinitis | |
| Germinoma | A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain. |
| Sulfonamide allergy | |
| Ornithosis | A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia. |
| Endemic typhus | A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted_by fleas (Xenopsylla cheopis). The infection has_symptom headache, has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom nausea, has_symptom vomiting, has_symptom cough and has_symptom rash. |
| Malignant hypertension | |
| Chronic cervicitis | |
| Familial Behcet-like autoinflammatory syndrome | |
| Visual cortex disease | |
| Pulmonary hemosiderosis | A lung disease with an unknown etiology affecting the lungs which results in bleeding from tiny alveolar capillaries. Examination of sputum and bronchoalveolar lavage fluid can disclose hemosiderin-laden alveolar macrophages (siderophages), and the lung biopsy shows numerous siderophages in the alveoli. Alveolar hemorrhage is characterized by hemoptysis, dyspnea, alveolar infiltrates on chest radiograph, and various degrees of anaemia. Following a bleeding episode, the alveolar macrophages convert the hemoglobin's iron into hemosiderin within 36-72h. |
| Cortical blindness | |
| Herpes zoster oticus | |
| Multiple congenital anomalies-hypotonia-seizures syndrome | |
| Focal epithelial hyperplasia | A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity. |
| Fibroma | |
| Acute conjunctivitis | |
| Visual pathway disease | |
| Paraphimosis | |
| Persian gulf syndrome | A syndrome affecting returning military veterans and civilian workers of the Gulf War. |
| Thromboangiitis obliterans | OMIM mapping confirmed by DO. [LS]. |
| Geographic tongue | An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface. |
| Prostatic hypertrophy | |
| Neurotic disorder | Disorders in which the symptoms are distressing to the individual and recognized by him or her as being unacceptable. Social relationships may be greatly affected but usually remain within acceptable limits. The disturbance is relatively enduring or recurrent without treatment. |
| Ulcer of anus and rectum | |
| Central nervous system leukemia | A hematologic cancer located_in the central nervous system. |
| Acute retrobulbar neuritis | |
| Cogan syndrome | |
| Erdheim-Chester disease | |
| Autoimmune epilepsy | |
| Postinfectious encephalitis | |
| Nephropathia epidemica | A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Puumala virus, which is transmitted_by bank vole, Myodes glareolus [NCBITaxon:447135]. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure. |
| Subdural empyema | |
| St. Louis encephalitis | A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis. |
| Anus benign neoplasm | |
| Fuchs' heterochromic uveitis | A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface. |
| Gastroschisis | OMIM mapping confirmed by DO. [SN]. |
| Atypical teratoid rhabdoid tumor | A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system. |
| Splenic tuberculosis | An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen. |
| Inflammatory bowel disease 1 | |
| Pellagra | |
| Glaucomatocyclitic crisis | |
| Renal tuberculosis | An urogenital tuberculosis that results_in formation of granulomas located_in kidney. |
| eosinophilia-myalgia syndrome | |
| Nontoxic goiter | |
| Lagophthalmos | |
| Rhinoscleroma | A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis. |
| Asphyxia neonatorum | |
| Urethral obstruction | |
| Histiocytoid hemangioma | |
| Von Economo's disease | |
| Chondrocalcinosis | An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint. |
| Shipyard eye | |
| Rheumatic myocarditis | |
| Loeys-Dietz syndrome | |
| Panhypopituitarism | |
| Anal canal cancer | A large intestine cancer that is located_in the terminal part of the large intestine. |
| Chronic pyelonephritis | |
| Peliosis hepatis | |
| Amelanotic melanoma | |
| drug-induced lupus erythematosus | |
| Refractory hematologic cancer | A hematologic cancer that is located_in the blood or bone marrow that doesn't respond to treatment. |
| Mucocele of salivary gland | |
| CREST syndrome | |
| Oral tuberculosis | A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located_in tongue, located_in palate, located_in maxilla or located_in mandible. |
| Craniopharyngioma | |
| Aleukemic leukemia cutis | |
| PFAPA syndrome | |
| Neurodermatitis | |
| Lice infestation | A parasitic ectoparasitic infectious disease that involves infestation of lice, which are blood-feeding ectoparasitic insects of the order Phthiraptera. |
| cone-rod dystrophy 6 | |
| Bone lymphoma | A bone cancer and lymphoma by site that results_in lymphoma starting in the bone. |
| Ritter's disease | A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptoms redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability. |
| Melkersson-Rosenthal syndrome | OMIM mapping confirmed by DO. [SN]. |
| Cranial nerve malignant neoplasm | |
| immunodeficiency-centromeric instability-facial anomalies syndrome | |
| Asymptomatic dengue | A dengue disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has no manifestations of symptoms. |
| Keshan disease | |
| Complement component 5 deficiency | OMIM mapping confirmed by DO. [SN]. |
| Inclusion conjunctivitis | A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus. |
| fiedler's myocarditis | |
| co-trimoxazole allergy | |
| Diversion colitis | |
| Jejunoileitis | |
| Meningovascular neurosyphilis | A tertiary neurosyphilis that results_in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has_symptom poor concentration, has_symptom memory loss, has_symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries. |
| Autoimmune atherosclerosis | |
| Tooth resorption | |
| Sick building syndrome | An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building. |
| Immunodeficiency 50 | |
| Olfactory neuroblastoma | |
| Malignant olfactory nerve neoplasm | |
| Photoallergic dermatitis | |
| Reactive cutaneous fibrous lesion | |
| Skin tag | |
| Cutaneous Paget's disease | |
| Nickel allergic contact dermatitis | |
| Subcorneal pustular dermatosis | |
| Lymphocele | |
| Dental pulp necrosis | |
| Plummer's disease | |
| PAPA syndrome | |
| Impetigo herpetiformis | Impetigo herpetiformis is a impetigo described as a form of severe pustular psoriasis occurring in pregnancy. |
| HCL-V | |
| Psoriasis 1 | |
| Argyll Robertson pupil | |
| Brain stem glioma | |
| Lemierre's syndrome | A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling. |
| Cephalosporin allergy | |
| Seborrheic infantile dermatitis | A seborrheic dermatitis that involves fungal infection of the scalp of recently born babies caused by Malassezia furfur. It is occasionally linked to immune disorders. The symptoms include thick, crusty, yellow or brown scales over the child's scalp. |
| Acute flaccid myelitis | |
| Cardia cancer | |
| Pleuropneumonia | |
| Retroperitoneal cancer | An organ system cancer located_in the retroperitoneal space that is manifested in retroperitoneal space in the abdominal cavity behind the peritoneum. |
| Congenital myasthenic syndrome 14 | |
| third-degree atrioventricular block | |
| Libman-Sacks endocarditis | |
| Acute hemorrhagic conjunctivitis | A viral infectious disease that results_in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted_by contaminated fomites or transmitted_by contact with contaminated hands. The infection has_symptom vascular dilation, has_symptom eyelid edema, has_symptom photophobia, has_symptom redness of the eyes, has_symptom watering of the eye, has_symptom conjunctival congestion, and has_symptom superficial punctate epithelial keratitis. |
| Abnormal pupillary function | |
| Anterior scleritis | |
| Trachoma | A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea. |
| Pasteurellosis | A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia. |
| tolosa-hunt syndrome | |
| Horner's syndrome | |
| aspirin-induced respiratory disease | |
| Endometrial serous adenocarcinoma | |
| Chronic inducible urticaria | |
| Reye syndrome | |
| Desmoplastic small round cell tumor | Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases. |
| Hordeolum | Hordeolum is a sequelae of infectious and parasitic disease consisting of an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection. |
| Nasal cavity cancer | A respiratory system cancer that is located_in the nasal cavity. |
| Root resorption | |
| Ross River fever | A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus, which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. |
| Hodgkin's lymphoma, lymphocytic-histiocytic predominance | |
| IgA pemphigus | |
| Heart cancer | A cardiovascular cancer located_in the heart. |
| Urethral stricture | |
| Small cell sarcoma | |
| Pompholyx | |
| mast-cell leukemia | A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood. |
| Germ cell benign neoplasm | |
| Benign teratoma | |
| Hypochondriasis | |
| Secondary Parkinson disease | |
| Postpoliomyelitis syndrome | A poliomyelitis that results_in atrophy located_in muscle, many years after the initial infection, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3. It is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. The infection has_symptom muscle weakness, has_symptom muscle pain, has_symptom sleep apnea, and has_symptom breathing problems. |
| Blood group incompatibility | |
| Acute megakaryocytic leukemia | |
| Schimke immuno-osseous dysplasia | Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome. |
| Hypertrophy of breast | |
| Pupil disease | |
| Suppurative periapical periodontitis | |
| Prolactinoma | OMIM mapping confirmed by DO. [SN]. |
| Cellular myxoid liposarcoma | |
| Pleomorphic liposarcoma | |
| Pustular psoriasis 14 | |
| Blepharospasm | A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks. |
| Balanoposthitis | |
| Shwartzman phenomenon | |
| Ludwig's angina | |
| Loeffler syndrome | An eosinophilic pneumonia described as a form of pulmonary eosinophilia characterized as a mild pneumonitis marked by transitory pulmonary infiltration and eosinophilia and usually considered to be an allergic reaction. It can occur in response to a parasitic infection. |
| Small intestine adenocarcinoma | A small intestine carcinoma that derives_from epithelial cells of glandular origin. |
| Childhood T-cell acute lymphoblastic leukemia | |
| Left bundle branch hemiblock | |
| PTEN hamartoma tumor syndrome | mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS. |
| Wernicke encephalopathy | |
| CD3epsilon deficiency | A severe combined immunodeficiency that is an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. |
| Mucoepidermoid carcinoma | A salivary gland carcinoma that is characterized by squamous cells, mucus-secreting cells, and intermediate cells. |
| Lip cancer | |
| Palindromic rheumatism | A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results_in no joint damage or symptoms. |
| Gestational choriocarcinoma | |
| Internuclear ophthalmoplegia | |
| Arteriosclerosis obliterans | |
| Early yaws | A yaws that results in initial papule at the site of entry of bacteria. Without treatment, this is followed by disseminated skin lesions over the body. Bone pain and bone lesions may also occur. |
| Axillary adenitis | |
| Xanthogranulomatous cholecystitis | |
| Transient myeloproliferative syndrome | |
| Chronic NK-cell lymphocytosis | |
| Clear cell sarcoma | A sarcoma that is characterized by solid nests and fascicles of tumor cells with clear cytoplasm and prominent nucleoli. It presents as a slow growing mass that especially affects tendons and aponeuroses and it is deeply situated. |
| Postencephalitic Parkinson disease | |
| Pthirus pubis infestation | A lice infestation that involves parasitic infestation by pubic lice Pthirus pubis, which are found in the pubic hair, less commonly in eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk and scalp. The symptoms include itching in the pubic and groin area. Intense itching leads to scratching which can cause sores and secondary bacterial infection of the skin. |
| Livedoid vasculitis | |
| Tuberculous empyema | A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula. |
| La Crosse encephalitis | A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus, which is transmitted_by treehole mosquito, Ochlerotatus triseriatus. The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis. |
| Sulfamethoxazole allergy | |
| Squamous cell papilloma | |
| Villous adenoma | |
| Ovarian carcinosarcoma | |
| Sexual health disorder | |
| Immune system organ benign neoplasm | An organ system benign neoplasm located_in the immune system organs. |
| Thymus lipoma | |
| first-degree atrioventricular block | |
| Cholinergic urticaria | An urticaria induced by sweating. |
| Carrion's disease | A primary bacterial infectious disease that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed. |
| VEXAS syndrome | |
| Interstitial myocarditis | |
| Infectious anterior uveitis | |
| Trichothiodystrophy | |
| Vulvitis | |
| Submandibular adenitis | |
| Tinea imbricata | |
| Chronic neutrophilic leukemia | |
| Gallbladder adenocarcinoma | A gallbladder carcinoma that derives_from epithelial cells of glandular origin. |
| Vernal conjunctivitis | |
| Schnitzler syndrome | |
| Autoimmune polyendocrine syndrome type 2 | An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene. |
| Fissured tongue | OMIM mapping confirmed by DO. [SN]. |
| Cystic teratoma | |
| Akinetic mutism | A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness. |
| SAPHO syndrome | |
| Lung sarcoma | A lung cancer that is located_in the lung and that arises from transformed cells of mesenchymal origin. |
| Antisocial personality disorder | A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood. |
| Gummatous syphilis | |
| Refractory hairy cell leukemia | A refractory hematologic cancer that is a mature B cell cancer that does not yield readily to treatment. |
| American histoplasmosis | |
| Amblyopia | |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | |
| Arteritic anterior ischemic optic neuropathy | |
| Acquired generalized lipodystrophy | |
| Basidiobolomycosis | A subcutaneous mycosis that involves a chronic inflammatory or granulomatous fungal infection of the subcutaneous tissue of the limbs, chest, back or buttocks caused by Basidiobolus ranarum. Lesions appear as subcutaneous nodules which develop into massive, firm, indurated, painless swellings which are freely movable over the underlying muscle, but are attached to the skin which may become hyperpigmented but not ulcerated. |
| Cannabis abuse | A substance abuse that involves the recurring use of cannabis despite negative consequences. |
| Gingival hypertrophy | |
| Breast implant illness | |
| Chronic endophthalmitis | |
| Occupational dermatitis | |
| Allergic urticaria | |
| Localized osteosarcoma | |
| Septicemic plague | A plague that results_in infection located_in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection has_symptom fever, has_symptom chills, has_symptom prostration, has_symptom abdominal pain, has_symptom shock and has_symptom bleeding into skin and other organs. |
| Primary cerebellar degeneration | |
| Parotid gland cancer | A salivary gland cancer that is located_in the parotid gland. |
| Dermoid cyst | |
| Hypochromic microcytic anemia | A microcytic anemia characterized by paler than normal blood cells. |
| Mixed phenotype acute leukemia, T/myeloid | |
| Spinal cancer | A central nervous system cancer that is located_in the spinal cord. It is mostly formed from metastases from primary cancers elsewhere (commonly breast, prostate, and lung cancer). |
| Immunodeficiency 63 | |
| Sphenoid sinusitis | A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head. |
| Hepatic tuberculosis | A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice. |
| Agoraphobia | A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable. |
| Immunodeficiency 36 | |
| Purpura fulminans | |
| Pericoronitis | |
| Vesiculitis | |
| Male reproductive organ benign neoplasm | |
| Urticaria pigmentosa | OMIM mapping confirmed by DO. [LS]. |
| Fish allergy | |
| Sagittal sinus thrombosis | |
| Protein C deficiency | |
| Hypertensive retinopathy | |
| Appendix cancer | A intestinal cancer that is located_in the appendix. |
| Childhood brain stem neoplasm | |
| Appendix disease | |
| Childhood brain stem glioma | |
| Capillariasis | A parasitic helminthiasis infectious disease that involves infection of the intestine, liver and lungs caused by Capillaria species. |
| Pigmented villonodular synovitis | |
| Congenital sucrase-isomaltase deficiency | |
| Severe congenital neutropenia 3 | |
| Childhood osteosarcoma | |
| Gender incongruence | |
| Dysgraphia | A writing disorder that involves a deficiency in the ability to write where the writing is distorted or incorrect, spelling difficulty, poor handwriting or trouble putting thoughts on paper. |
| Lipoid proteinosis | OMIM mapping confirmed by DO. [SN]. |
| Skin sarcoma | |
| Aleutian mink disease | A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease virus. The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia. |
| Atypical chronic myeloid leukemia, BCR-ABL1 negative | |
| Inflammatory bowel disease 3 | |
| Bilateral breast cancer | A breast carcinoma that is characterized by an individual having breast cancer in both breasts, either simultaneously or at different times. |
| Bolivian hemorrhagic fever | A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Machupo virus, which is transmitted_by vesper mouse, Calomys callosus. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom myalgia, has_symptom arthralgia, has_symptom bleeding from the oral and nasal mucosa, and has_symptom bleeding from the bronchopulmonary, gastrointestinal and genitourinary tracts. |
| CD3zeta deficiency | A severe combined immunodeficiency that affects the development and function of T cells. |
| Black piedra | |
| Chronic dacryocystitis | |
| Ovarian benign neoplasm | |
| Immunoglobulin heavy-and-light chain | |
| Angiostrongyliasis | A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis. |
| Schinzel Giedion syndrome | |
| Subacute bacterial endocarditis | |
| B-cell adult acute lymphocytic leukemia | |
| Cerebral arteritis | |
| Mediastinal gray zone lymphoma | |
| Mediastinal malignant lymphoma | |
| Penis squamous cell carcinoma | A penis carcinoma that has_material_basis_in squamous cells. |
| Bacterial esophagitis | |
| Nonbacterial thrombotic endocarditis | |
| Waterhouse-Friderichsen syndrome | An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland. |
| C1 inhibitor deficiency | A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue. |
| Cicatricial ectropion | |
| Siderosis | |
| Acute necrotizing encephalitis | |
| Lung giant cell carcinoma | A lung carcinoma that is located_in large undifferentiated cells. |
| Myoglobinuria | Presence of myoglobin in the urine. |
| Pseudomembranous conjunctivitis | A acute conjunctivitis which involves a fibrin-rich exudate formation on the surface of the conjunctiva. Infectious causes of pseudomembranes include Corynebacterium diphtheriae, streptococci, pneumococci, herpes simplex virus, adenovirus, Chlamydia and gonococci. Other causes include chemical (alkali) irritants, erythema multiforme, and ocular pemphigoid. |
| Brachial plexus neuritis | |
| Sigmoid colon cancer | |
| Retroperitoneal sarcoma | A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space. |
| Brain stem infarction | |
| Type 1 diabetes mellitus 23 | |
| Male breast cancer | |
| Kidney papillary necrosis | |
| Pyosalpinx | |
| Malignant conjunctival melanoma | |
| Hypervitaminosis D | |
| Cowden syndrome | |
| Brain germinoma | |
| Arteriolosclerosis | |
| Phlyctenulosis | |
| Priapism | A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain. |
| Islet cell tumor | A pancreatic cancer that is located_in the pancreatic islet cells. |
| Chronic salpingitis | |
| Atopic dermatitis 3 | |
| Rectum squamous cell carcinoma | |
| Pseudomyxoma peritonei | An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis. |
| Selective IgG deficiency disease | |
| Predominantly cortical thymoma | |
| Kindler syndrome | Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB, see this term) and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes. |
| Pancreatic endocrine carcinoma | An islet cell tumor that has_material_basis_in epithelial cells. |
| Nodular basal cell carcinoma | |
| Coronary restenosis | |
| Rectal adenoma | |
| Vaginal carcinoma | A vaginal cancer that has_material_basis_in epithelial cells. |
| alacrima, achalasia, and impaired intellectual development syndrome | |
| Colorado tick fever | A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus, which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue. |
| Sweat gland cancer | |
| Wissler-Fanconi syndrome | |
| Necrosis of pituitary | |
| Suppurative thyroiditis | |
| Malignant skin fibrous histiocytoma | |
| Malignant dermis tumor | |
| Malignant otitis externa | A otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes. |
| Submandibular gland disease | |
| Pleomorphic rhabdomyosarcoma | |
| Angiodysplasia | A vascular disease that is characterized as a small vascular malformation of the gut. |
| Facial dermatosis | |
| Epicondylitis | A bone inflammation disease that results_in inflammation located_in epicondyle. |
| Brazilian hemorrhagic fever | |
| Typhoidal tularemia | |
| Bladder carcinoma in situ | |
| Retinal vasculopathy with cerebral leukodystrophy | |
| Motor neuritis | |
| Root caries | |
| Placental choriocarcinoma | |
| Plantar fasciitis | |
| Phototoxic dermatitis | |
| Ocular hyperemia | |
| Syringomyelia | |
| Carnitine palmitoyltransferase I deficiency | |
| Spinal cord lymphoma | A spinal cancer that is located_in the spinal cord and derives_from lymphocytes. |
| Thymus lymphoma | |
| Chronic tic disorder | A tic disorder that is characterized by single or multiple motor or phonic tics, but not both, which are present for more than a year. |
| Prostatic adenoma | |
| Testis seminoma | |
| Nodular nonsuppurative panniculitis | |
| Aromatase excess syndrome | |
| Gastric antral vascular ectasia | |
| Injection anthrax | |
| Sebaceous carcinoma | |
| Hereditary spastic paraplegia 41 | |
| Plexopathy | |
| Subacute lymphocytic thyroiditis | |
| Beriberi | |
| Inflammatory bowel disease 7 | |
| Laurence-Moon syndrome | OMIM mapping confirmed by DO. [SN]. |
| Syndromic X-linked intellectual disability Cabezas type | |
| Complete generalized lipodystrophy | |
| monocyte, dendritic cell, and NK cell deficiency | |
| Immunodeficiency 32B | |
| Chronic apical periodontitis | |
| Mast syndrome | A hereditary spastic paraplegia associated with dementia. |
| Phenytoin allergy | |
| Pleomorphic xanthoastrocytoma | |
| Type C thymoma | |
| Lung small cell carcinoma | A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells. |
| Sebaceous adenocarcinoma | |
| Neonatal anemia | |
| Reflex sympathetic dystrophy | OMIM mapping confirmed by DO. [SN]. |
| Leiomyomatosis | |
| Heavy chain disease | A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains. |
| Intracranial embolism | |
| Paranoid schizophrenia | A schizophrenia that involves delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening. |
| Endobronchial leiomyoma | |
| Partial motor epilepsy | |
| Thyroid crisis | |
| Meibomian cyst | |
| Acute laryngitis | A laryngitis which lasts less than a few days. |
| Ceftazidime allergy | |
| Primary biliary cholangitis 2 | |
| Lymphangiosarcoma | |
| Primary angle-closure glaucoma | |
| Acute basophilic leukemia | |
| Acquired angioedema | Acquired angioedema (AAE) is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency. |
| Perforated corneal ulcer | |
| Psoriasis 13 | |
| Acute pulmonary heart disease | |
| Glycogen storage disease IV | OMIM mapping confirmed by DO. [SN]. |
| Ascending colon cancer | |
| Spinal chordoma | A chordoma that derives_from the spine. |
| Migraine without aura | A migraine that is characterized by migraine headaches that are not accompanied by an aura. |
| CADASIL | |
| Gnathomiasis | A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis. |
| Ovarian cystadenoma | |
| Pinguecula | |
| Hemangiopericytic tumor | |
| Inflammatory bowel disease 15 | |
| Hemangiopericytoma | A soft tissue cancer that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries. |
| Kernicterus | |
| Parkinson's disease 25 | |
| Cerebral atherosclerosis | |
| Neonatal leukemia | |
| alcohol-induced mental disorder | |
| Carotid artery thrombosis | |
| Tungiasis | A parasitic ectoparasitic infectious disease that is an inflammatory skin disease caused by the parasitic infestation of the female chigoe flea, Tunga penetrans in animals and humans. The symptoms include skin inflammation, severe pain, itching, and a lesion at the site of infection that is characterized by a black dot at the center of a swollen red lesion, surrounded a white halo. |
| Nipah virus encephalitis | |
| Schizophreniform disorder | A psychotic disorder that involves schizophrenia symptoms over time period of one month. |
| Benign ependymoma | |
| well-differentiated liposarcoma | |
| Corneal deposit | |
| B-cell prolymphocytic leukemia | |
| Intracranial hypotension | |
| Korean hemorrhagic fever | A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload. |
| Pharyngoconjunctival fever | A viral infectious disease that results_in infection located_in pharynx or located_in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted_by droplet spread of respiratory secretions or transmitted_by fomites. The infection has_symptom fever, has_symptom lymphadenopathy of the neck, and has_symptom headache. |
| Combined thymoma | |
| Timothy grass allergy | |
| Epstein-Barr virus hepatitis | A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice. |
| Balanitis xerotica obliterans | |
| Venezuelan hemorrhagic fever | A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Guanarito virus, which is transmitted_by cotton rat, Sigmodon alstoni and transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia. |
| Lennox-Gastaut syndrome | |
| Immunodeficiency 18 | |
| Body dysmorphic disorder | A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image). |
| Specific phobia | A phobic disorder that is characterized by an unreasonable or irrational fear related to exposure to specific objects or situations. |
| Recurrent corneal erosion | |
| Conjunctival degeneration | |
| Pituitary infarct | |
| Choroid plexus papilloma | OMIM mapping confirmed by DO. [SN]. |
| Diffuse glomerulonephritis | |
| Metachondromatosis | Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions. |
| Ulceroglandular tularemia | A tularemia that results_in painful regional lymphadenopathy and an ulcerated skin lesion. |
| Neuroschistosomiasis | A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure. |
| Corticosteroid allergy | |
| Endocardial fibroelastosis | An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers. |
| Benign meningioma | |
| Central nervous system embryonal tumor | |
| Sick sinus syndrome | Xref MGI. |
| Pituitary apoplexy | |
| Laron syndrome | OMIM mapping confirmed by DO. [SN]. |
| Ectodermal dysplasia and immune deficiency | |
| Cerebrovascular benign neoplasm | |
| Fourth cranial nerve palsy | |
| Sarcomatosis | A sarcoma that results_in the formation of numerous sarcomas or located_in various parts of the body. |
| Sinoatrial node disease | A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm. |
| Skull base chordoma | A chordoma that is located_in the skull base. |
| Pontiac fever | A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days. |
| Pneumatosis cystoides intestinalis | |
| Apocrine sweat gland neoplasm | |
| Eccrine sweat gland cancer | |
| Ancylostomiasis | A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition. |
| Acute cor pulmonale | |
| Hemopericardium | A pericardial effusion that results from blood in the pericardial sac. |
| Psoriasis 10 | |
| Dedifferentiated chondrosarcoma | |
| Renal osteodystrophy | |
| lymphoplasmacyte-rich meningioma | |
| Retina lymphoma | |
| Bronchus cancer | A respiratory system cancer that is located_in the bronchus. |
| West syndrome | |
| Mature teratoma | |
| Mucinoses | |
| Fibrous dysplasia | A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue. |
| Neuroleptic malignant syndrome | |
| Type 1 diabetes mellitus 10 | |
| Gastric dilatation | |
| Hirata disease | |
| Kidney hypertrophy | |
| Congenital dyserythropoietic anemia | A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. |
| Calciphylaxis | |
| Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | |
| Rubeosis iridis | |
| Sebaceous gland neoplasm | |
| Posterior fossa ependymoma | |
| Asperger syndrome | An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development. |
| Achilles bursitis | |
| speech-language disorder-1 | |
| Developmental and epileptic encephalopathy 9 | |
| camptodactyly-arthropathy-coxa vara-pericarditis syndrome | |
| Malignant essential hypertension | |
| Rhizomelic chondrodysplasia punctata type 1 | |
| Bietti crystalline corneoretinal dystrophy | OMIM mapping confirmed by DO. [SN]. |
| Adenoid squamous cell carcinoma | A squamous cell carcinoma that is characterized by a tubular microscopic pattern and keratinocyte acantholysis. |
| Tooth erosion | |
| Metanephric adenoma | |
| Congenital muscular dystrophy-dystroglycanopathy type A5 | |
| Spastic diplegia | A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk. |
| Li-Fraumeni syndrome 1 | |
| Chromosome 19q13.11 deletion syndrome | |
| IGSF1 deficiency syndrome | |
| Noonan syndrome-like disorder with loose anagen hair | Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays. |
| Fanconi anemia complementation group I | |
| Primary autosomal recessive microcephaly 2 with or without cortical malformations | |
| TORCH syndrome | |
| Weyers acrofacial dysostosis | |
| Autosomal recessive limb-girdle muscular dystrophy type 2H | |
| Papillary craniopharyngioma | |
| Xeroderma pigmentosum group D | |
| Acrofacial dysostosis | |
| Facioscapulohumeral muscular dystrophy 2 | |
| Facioscapulohumeral muscular dystrophy 1 | |
| Congenital hereditary endothelial dystrophy of cornea | |
| Acute myeloid leukemia with mutated NPM1 | |
| Spinocerebellar ataxia type 11 | |
| Myxosarcoma | |
| Myoblastoma | |
| Acneiform dermatitis | |
| Hallucinogen abuse | |
| Prostate small cell carcinoma | |
| McLeod syndrome | |
| Hypophosphatemic nephrolithiasis/osteoporosis | |
| Depersonalization disorder | |
| Nutmeg liver | |
| High molecular weight kininogen deficiency | |
| Galactokinase deficiency | A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. |
| Adenine phosphoribosyltransferase deficiency | Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy. |
| Xeroderma pigmentosum group F | |
| XFE progeroid syndrome | |
| Xeroderma pigmentosum variant type | |
| Xeroderma pigmentosum group C | |
| Cockayne syndrome A | |
| UV-sensitive syndrome | |
| Xeroderma pigmentosum group B | |
| Spinocerebellar ataxia with axonal neuropathy 1 | |
| Cockayne syndrome B | |
| Karyomegalic interstitial nephritis | |
| Cerebrooculofacioskeletal syndrome 4 | |
| De Sanctis-Cacchione syndrome | |
| Photosensitive trichothiodystrophy 3 | |
| Ruijs-Aalfs syndrome | |
| Fanconi anemia complementation group D1 | |
| Supraglottis neoplasm | |
| X-linked parkinsonism-spasticity syndrome | |
| Rapadilino syndrome | |
| Baller-Gerold syndrome | OMIM mapping confirmed by DO. [SN]. |
| Xeroderma pigmentosum group E | |
| Fanconi anemia complementation group E | |
| Developmental dysplasia of the hip 2 | |
| Syndromic X-linked intellectual disability Pilorge type | |
| Extrahepatic bile duct carcinoma | |
| Spinocerebellar ataxia type 1 | Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. |
| Nestor-Guillermo progeria syndrome | |
| Gastric cardia adenocarcinoma | |
| Urethra adenocarcinoma | An urethra cancer that derives_from epithelial cells of glandular origin. |
| Bone carcinoma | A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| 46,XY sex reversal 6 | |
| Lung mixed small cell and squamous cell carcinoma | |
| Vallecula cancer | |
| Ovarian mucinous adenocarcinoma | |
| Developmental dysplasia of the hip 1 | |
| Restrictive dermopathy | |
| Extragonadal germ cell cancer | A germ cell cancer that derives_from germ cells that are found in areas of the body other than the ovary or testicle. The tumors originate in the sperm forming cells in the testicles or egg producing cells in the ovary. |
| Fanconi anemia complementation group U | |
| Sinonasal undifferentiated carcinoma | |
| Nasal cavity carcinoma | A nasal cavity cancer that_has_material_basis_in epithelial cells. |
| Paranasal sinus cancer | A respiratory system cancer that is located_in the paranasal sinuses. |
| Fanconi anemia complementation group A | |
| Mandibuloacral dysplasia | |
| Gemistocytic astrocytoma | |
| Hereditary retinal dystrophy | |
| Cowden syndrome 5 | |
| Fanconi anemia complementation group F | |
| Spinal cord astrocytoma | |
| Pancreatic intraductal papillary-mucinous neoplasm | |
| Autosomal dominant intellectual developmental disorder 6 | |
| Gastric adenosquamous carcinoma | |
| Sotos syndrome 1 | |
| Nephronophthisis 1 | |
| Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | |
| X-linked sideroblastic anemia with ataxia | OMIM mapping confirmed by DO. [SN]. |
| Hereditary folate malabsorption | |
| Pica disease | |
| Sideroblastic anemia 1 | |
| Hemochromatosis type 4 | Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin. |
| Peyronie's disease | OMIM mapping confirmed by DO. [SN]. |
| GRACILE syndrome | GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E). |
| COX deficiency, benign infantile mitochondrial myopathy | |
| Mitochondrial complex IV deficiency nuclear type 6 | |
| Combined oxidative phosphorylation deficiency 3 | |
| Alpers-Huttenlocher syndrome | |
| Persistent hyperplastic primary vitreous | NT MGI. |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | |
| Mitochondrial DNA depletion syndrome 7 | |
| Myoclonic cerebellar dyssynergia | OMIM mapping confirmed by DO. [SN]. |
| Childhood germ cell cancer | |
| MERRF syndrome | OMIM mapping confirmed by DO. [SN]. |
| Schizophrenia 5 | |
| 3-methylglutaconic aciduria type 5 | |
| Charcot-Marie-Tooth disease type 2EE | |
| 3-methylglutaconic aciduria type 4 | |
| Charcot-Marie-Tooth disease X-linked recessive 4 | |
| Pseudobulbar palsy | |
| Mitochondrial DNA depletion syndrome 2 | |
| Arrhythmogenic right ventricular dysplasia 1 | |
| Coenzyme Q10 deficiency disease | A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis. |
| Combined oxidative phosphorylation deficiency 1 | |
| Spondylometaphyseal dysplasia | |
| Combined oxidative phosphorylation deficiency 52 | |
| Combined oxidative phosphorylation deficiency 39 | |
| Autosomal dominant nonsyndromic deafness 67 | |
| Fumarase deficiency | |
| Left ventricular noncompaction | |
| X-linked myopathy with excessive autophagy | |
| Sengers syndrome | |
| Leukocoria | |
| Combined oxidative phosphorylation deficiency 6 | |
| Adult spinal muscular atrophy | OMIM mapping confirmed by DO. [SN]. |
| Walker-Warburg syndrome | OMIM mapping confirmed by DO. [SN]. |
| Autosomal dominant limb-girdle muscular dystrophy type 2 | |
| Pontocerebellar hypoplasia type 6 | NT MGI. |
| Infantile cerebellar-retinal degeneration | A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. |
| biotin-responsive basal ganglia disease | OMIM mapping confirmed by DO. [SN]. |
| Autosomal recessive limb-girdle muscular dystrophy type 2M | |
| Mongolian spot | |
| PHGDH deficiency | A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis. |
| Behr syndrome | |
| Autosomal recessive limb-girdle muscular dystrophy type 2K | |
| Neuronal ceroid lipofuscinosis 8 northern epilepsy variant | |
| Scapuloperoneal spinal muscular atrophy | |
| Hypomyelinating leukodystrophy 4 | |
| Congenital myasthenic syndrome 13 | |
| Charcot-Marie-Tooth disease type X | |
| Spinal muscular atrophy with progressive myoclonic epilepsy | |
| Dropped head syndrome | |
| Congenital merosin-deficient muscular dystrophy 1A | |
| Congenital muscular dystrophy due to LMNA mutation | |
| Congenital myopathy 1A | |
| Peptic ulcer perforation | |
| Buschke-Ollendorff syndrome | |
| Linear nevus sebaceous syndrome | |
| Appendiceal neoplasm | |
| Osteopoikilosis | An osteosclerosis that results_in numerous bone islands located_in skeleton. |
| Melorheostosis | An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex. |
| Hereditary mixed polyposis syndrome | |
| Duodenum adenocarcinoma | A duodenum cancer that derives_from epithelial cells of glandular origin. |
| Hereditary spastic paraplegia 76 | |
| Familial adult myoclonic epilepsy | |
| Primary ovarian insufficiency 1 | |
| Neuronal intranuclear inclusion disease | |
| Coffin-Siris syndrome | A genetic disease that is characterized by underdevelopment of the tips of fingers or toes, underdevelopment or abscense of finger or toe nails and developmental disability. |
| Hypogonadotropic hypogonadism 15 with or without anosmia | |
| Ehlers-Danlos syndrome spondylodysplastic type 1 | |
| Larsen-like syndrome B3GAT3 type | |
| Mucopolysaccharidosis type IIID | |
| Atrial heart septal defect 4 | |
| Schneckenbecken dysplasia | |
| Carboxypeptidase N deficiency | |
| Congenital disorder of glycosylation type IIm | |
| Spondyloepimetaphyseal dysplasia with joint laxity type 2 | |
| Dentinogenesis imperfecta | OMIM mapping confirmed by DO. [SN]. |
| GM1 gangliosidosis type 1 | GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations. |
| Hereditary lymphedema I | |
| Calvarial doughnut lesions with bone fragility | |
| Trichorhinophalangeal syndrome type II | An exostosis that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose. |
| Refractive amblyopia | |
| Hereditary lymphedema | A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system. |
| Childhood astrocytic tumor | |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| Brittle cornea syndrome 1 | |
| Achondrogenesis type IB | An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen. |
| Congenital myasthenic syndrome 6 | |
| Enophthalmos | |
| Spondyloepiphyseal dysplasia Kimberley type | |
| Keipert syndrome | |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | |
| Proliferative fasciitis | |
| Saul-Wilson syndrome | |
| Aspirin allergy | |
| Meester-Loeys syndrome | |
| Camurati-Engelmann disease | An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone. |
| X-linked cardiac valvular dysplasia | |
| Hidrocystoma | |
| CHIME syndrome | Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. |
| Cystic lymphangioma | |
| Osteogenesis imperfecta type 1 | Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. |
| Autosomal recessive osteopetrosis 2 | |
| Urofacial syndrome | An autosomal recessive disease that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding. |
| Congenital ptosis | A ptosis characterized by eyelid drop present at birth. |
| Complex partial epilepsy | |
| Esophageal adenosquamous carcinoma | An esophageal carcinoma that derives_from squamous cells and gland-like cells. |
| Chondrodysplasia Blomstrand type | |
| Isolated growth hormone deficiency type IB | |
| Jejunal somatostatinoma | |
| Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly | |
| Nephrogenic syndrome of inappropriate antidiuresis | Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels. |
| Bile duct adenoma | An adenoma and biliary tract cancer that results_in a small firm white nodule with multiple bile ducts that are located_in a fibrous stroma. |
| Cholangiolocellular carcinoma | |
| Retinitis pigmentosa 22 | |
| extra-adrenal pheochromocytoma | An adrenal medulla cancer that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin. |
| Bilateral frontoparietal polymicrogyria | |
| Breast metaplastic carcinoma | |
| Familial gestational hyperthyroidism | |
| Pancreatic serous cystic neoplasm | |
| Biliary tract benign neoplasm | |
| Beemer-Langer syndrome | |
| Mandibulofacial dysostosis with alopecia | |
| Bardet-Biedl syndrome 12 | |
| Norman-Roberts syndrome | |
| Gastric leiomyoma | |
| Jejunal cancer | |
| Adrenal gland pheochromocytoma | A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present. |
| short-rib thoracic dysplasia 6 with or without polydactyly | |
| Dumping syndrome | |
| Asphyxiating thoracic dystrophy 3 | |
| Nonautoimmune hyperthyroidism | |
| Postgastrectomy syndrome | |
| TSH producing pituitary tumor | |
| Familial male-limited precocious puberty | Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height. |
| Lissencephaly 9 with complex brainstem malformation | |
| Bardet-Biedl syndrome 16 | |
| Achromatopsia 3 | |
| WAGR syndrome | A chromosomal disease that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes. |
| Parietal foramina | NT MGI. |
| Endemic goiter | |
| Lethal congenital contracture syndrome | |
| Distal arthrogryposis type 3 | |
| Waardenburg syndrome type 2E | |
| Waardenburg syndrome type 1 | Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum. |
| Waardenburg syndrome type 4A | |
| Trichorhinophalangeal syndrome type I | An autosomal dominant disease that is characterized by thin, sparse scalp hair, unusual facial features, abnormalities of the fingers and/or toes, and multiple abnormalities of the growing ends (epiphyses) of the bones (skeletal dysplasia), especially in the hands and feet. |
| Progressive myoclonus epilepsy 10 | |
| Inflammatory breast carcinoma | |
| Gastric signet ring cell adenocarcinoma | |
| Gastric diffuse adenocarcinoma | |
| Waardenburg syndrome type 4B | |
| Split hand-foot malformation 1 with sensorineural hearing loss | |
| Cataract 30 | |
| Mucinous cystadenocarcinoma | A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells. |
| Glioblastoma mesenchymal subtype | |
| Lateral displacement of eye | |
| Conventional osteosarcoma | |
| Papillary cystadenocarcinoma | A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with cysts and papillary endophytic projections. |
| Acquired hyperkeratosis | |
| Peripheral nervous system benign neoplasm | |
| Autonomic nervous system benign neoplasm | |
| Ganglioneuroma | |
| ABCD syndrome | An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB). |
| Diabetic cataract | |
| Elsahy-Waters syndrome | |
| Meningothelial meningioma | |
| Lymph node cancer | A lymphatic system cancer that is located_in the lymph node. |
| Linitis plastica | |
| Glioblastoma classical subtype | |
| Myoepithelioma | A sweat gland neoplasm that is composed_of outgrowths of myoepithelial cells from a sweat gland. |
| Spindle cell synovial sarcoma | |
| Bicuspid aortic valve disease | |
| Posterior polymorphous corneal dystrophy 3 | |
| Posterior polymorphous corneal dystrophy | |
| Ocular albinism with sensorineural deafness | |
| Papillary serous adenocarcinoma | A papillary adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures with psammoma bodies. |
| Fibrous meningioma | |
| Ganglioneuroblastoma | A moderately malignant neoplasm composed of primitive neuroectodermal cells dispersed in myxomatous or fibrous stroma intermixed with mature ganglion cells. It may undergo transformation into a neuroblastoma. It arises from the sympathetic trunk or less frequently from the adrenal medulla, cerebral cortex, and other locations. Cervical ganglioneuroblastomas may be associated with HORNER SYNDROME and the tumor may occasionally secrete vasoactive intestinal peptide, resulting in chronic diarrhea.|A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, and nodular.|A moderately malignant neoplasm composed of primitive neuroectodermal cells dispersed in myxomatous or fibrous stroma intermixed with mature ganglion cells. It may undergo transformation into a neuroblastoma. It arises from the sympathetic trunk or less frequently from the adrenal medulla, cerebral cortex, and other locations. Cervical ganglioneuroblastomas may be associated with HORNER SYNDROME and the tumor may occasionally secrete vasoactive intestinal peptide, resulting in chronic diarrhea (MeSH).|A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular. |
| Ureter carcinoma | An ureter cancer that is located_in the ureter. |
| Lymph node carcinoma | |
| Burn-McKeown syndrome | |
| hypotrichosis-lymphedema-telangiectasia syndrome | |
| Breast malignant phyllodes tumor | |
| lipid-rich carcinoma | |
| Adenosarcoma | A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium. |
| Anorectal stricture | |
| Xanthinuria | A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones. |
| Ureterolithiasis | |
| Uric acid urolithiasis | |
| Uric acid nephrolithiasis | |
| Xanthinuria type I | |
| Primary hyperoxaluria type 2 | Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis. |
| Hereditary hypophosphatemic rickets with hypercalciuria | |
| Megaconial type congenital muscular dystrophy | |
| Phosphoribosylpyrophosphate synthetase superactivity | Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprising two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies, and a mild late-onset form with no neurologic involvement. |
| Histidinemia | A histidine metabolism disease that involves a deficiency of the enzyme histidase. |
| Hyperlysinemia | An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood. |
| X-linked recessive hypophosphatemic rickets | |
| Histidine metabolism disease | An amino acid metabolic disorder that involves deficiency in histidine. |
| Tetraamelia syndrome 1 | |
| Primary hyperoxaluria type 3 | |
| Glycine encephalopathy | An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues. |
| Bartter disease type 3 | |
| Hawkinsinuria | |
| Glutaric acidemia type 3 | |
| Lynch syndrome 1 | |
| Urethral calculus | |
| Catecholaminergic polymorphic ventricular tachycardia 1 | |
| Focal nonepidermolytic palmoplantar keratoderma | |
| Bladder exstrophy | Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall |
| early-onset vitamin B6-dependent epilepsy 4 | |
| Bladder exstrophy-epispadias-cloacal exstrophy complex | |
| HRPT-related hyperuricemia | |
| X-linked dominant hypophosphatemic rickets | |
| Giant hemangioma | |
| Cystathioninuria | An elevated urinary concentration of cystathionine. |
| Sepiapterin reductase deficiency | |
| Kenny-Caffey syndrome type 2 | |
| Boomerang dysplasia | OMIM mapping confirmed by DO. [SN]. |
| Charcot-Marie-Tooth disease type 2Y | |
| Joubert syndrome 3 | |
| Spondylocarpotarsal synostosis syndrome | |
| Charcot-Marie-Tooth disease type 4C | Charcot-Marie-Tooth disease, type 4C (CMT4C) is a demyelinating CMT peripheral sensorimotor polyneuropathy with early-onset scoliosis or kyphoscoliosis. |
| Mesenchymal chondrosarcoma | |
| Neurodegeneration with brain iron accumulation 5 | |
| Vulvar leiomyoma | |
| Vulvar benign neoplasm | |
| Neurodegeneration with brain iron accumulation | |
| Hereditary sensory and autonomic neuropathy type 2 | |
| Hereditary spastic paraplegia 49 | |
| Subependymal giant cell astrocytoma | |
| Hereditary sensory and autonomic neuropathy type 1 | |
| Subependymal glioma | |
| Bartholin's duct cyst | |
| Hereditary spastic paraplegia 54 | |
| Autosomal recessive spinocerebellar ataxia 25 | |
| Solar retinopathy | |
| Hereditary spastic paraplegia 50 | |
| Marinesco-Sjogren syndrome | |
| Granular corneal dystrophy 2 | |
| Tinea favosa | A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring. |
| alcohol-related neurodevelopmental disorder | A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure. |
| Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | |
| Parkinson's disease 15 | |
| Spinocerebellar ataxia type 7 | |
| Fanconi anemia complementation group C | |
| Kufor-Rakeb syndrome | |
| Halperin-Birk syndrome | |
| Bartholin's gland disease | |
| Autosomal recessive spinocerebellar ataxia 17 | |
| Charcot-Marie-Tooth disease type 2B | |
| Myositis fibrosa | |
| Pleomorphic adenoma carcinoma | |
| Coffin-Lowry syndrome | OMIM mapping confirmed by DO. [SN]. |
| Hemangioma of subcutaneous tissue | |
| Autosomal dominant dyskeratosis congenita 1 | |
| Syndromic X-linked intellectual disability Lubs type | |
| Unilateral retinoblastoma | A retinoblastoma that effects only one eye. |
| IDH-mutant and 1p/19q-codeleted oligodendroglioma | |
| Prinzmetal angina | |
| Rhizomelic chondrodysplasia punctata | A genetic disease that is characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congential cataracts and has_material_basis_in mutations of the alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) gene. |
| Developmental and epileptic encephalopathy 55 | |
| Multiple congenital anomalies-hypotonia-seizures syndrome 4 | |
| Iridogoniodysgenesis syndrome | An autosomal dominant disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene. |
| Glycosylphosphatidylinositol biosynthesis defect 16 | |
| Hyperphosphatasia with impaired intellectual development syndrome 2 | |
| Hyperphosphatasia with impaired intellectual development syndrome 1 | |
| Hyperphosphatasia with impaired intellectual development syndrome 3 | |
| Hyperphosphatasia with impaired intellectual development syndrome 5 | |
| Hyperphosphatasia with impaired intellectual development syndrome 6 | |
| Developmental and epileptic encephalopathy 80 | |
| Developmental and epileptic encephalopathy 36 | |
| Immunodeficiency 23 | |
| Developmental and epileptic encephalopathy 15 | |
| Congenital disorder of glycosylation type IIq | |
| platelet-type bleeding disorder 9 | |
| Spinocerebellar ataxia type 34 | Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes. |
| Congenital disorder of glycosylation type IIf | |
| Lissencephaly 8 | |
| Hyperphosphatasia with impaired intellectual development syndrome 4 | |
| Autosomal recessive spinocerebellar ataxia 24 | |
| Alzheimer's disease 2 | |
| Autosomal dominant keratitis | |
| Salt and pepper syndrome | |
| Congenital disorder of glycosylation Ia | |
| Congenital disorder of glycosylation type IIh | |
| Hyperprolinemia type 1 | |
| fructose-1,6-bisphosphatase deficiency | A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis. |
| Congenital disorder of glycosylation type IIj | |
| Developmental and epileptic encephalopathy 2 | |
| Hereditary fructose intolerance syndrome | |
| Congenital disorder of glycosylation type IIp | |
| Congenital disorder of glycosylation type IIi | |
| Congenital disorder of glycosylation type IIo | |
| Schuurs-Hoeijmakers Syndrome | |
| Congenital disorder of glycosylation type IIn | |
| Foodborne botulism | A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), which are transmitted_by ingestion of food contaminated with preformed toxins, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. The infection has_symptom blurred vision, has_symptom diplopia, has_symptom dysarthria, has_symptom dysphonia, has_symptom dysphagia and has_symptom descending muscle paralysis. |
| Chromosome 1p36 deletion syndrome | |
| Congenital dyserythropoietic anemia type II | Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones. |
| Familial isolated trichomegaly | |
| Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome | |
| Naxos disease | |
| cone-rod dystrophy 15 | |
| Familial medullary thyroid carcinoma | OMIM mapping confirmed by DO. [SN]. |
| Carvajal syndrome | |
| Cleft lip-palate-ectodermal dysplasia syndrome | |
| Blepharocheilodontic syndrome | |
| Axenfeld-Rieger syndrome type 2 | |
| Hennekam syndrome | |
| Agenesis of corpus callosum, cardiac, ocular, and genital syndrome | |
| Renal adenoma | |
| Autosomal dominant intellectual developmental disorder 19 | |
| Orofacial cleft 7 | |
| Autosomal dominant Wolfram syndrome | |
| Familial hepatic adenoma | |
| Retinitis pigmentosa 55 | |
| Carcinoma of supraglottis | |
| Supraglottis cancer | |
| Focal segmental glomerulosclerosis 1 | |
| Epithelial predominant Wilms' tumor | |
| Phelan-McDermid syndrome | |
| Cryptophthalmia | |
| Orofacial cleft 1 | |
| Arrhythmogenic right ventricular dysplasia 5 | |
| Autosomal dominant nonsyndromic deafness 28 | |
| Autosomal recessive nonsyndromic deafness 89 | |
| Teebi hypertelorism syndrome | |
| Arrhythmogenic biventricular cardiomyopathy | |
| post-cardiac arrest syndrome | |
| Spiradenoma | |
| Epidermolysis bullosa simplex with mottled pigmentation | Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation. |
| Gallbladder adenoma | |
| Gallbladder benign neoplasm | |
| Intracranial meningioma | |
| Brugada syndrome 1 | |
| Adult liposarcoma | |
| Renal oncocytoma | OMIM mapping confirmed by DO. [SN]. |
| Hepatoid adenocarcinoma | |
| Adenofibroma | A cell type benign neoplasm that is composed_of glandular and fibrous tissues, with a relatively large proportion of glands. |
| Transient tic disorder | |
| Fetal valproate syndrome | |
| Arrhythmogenic left ventricular cardiomyopathy | |
| Duodenogastric reflux | |
| Lung acinar adenocarcinoma | |
| Fetal adenoma | |
| 3p deletion syndrome | |
| Bardet-Biedl syndrome 18 | |
| Spondylocostal dysostosis 3 | |
| Infiltrative basal cell carcinoma | |
| Granulomatous orchitis | |
| X-linked spinocerebellar ataxia 2 | |
| Comedo carcinoma | A carcinoma that is in situ (very early-stage breast cancer). |
| Anaplastic ependymoma | |
| Bardet-Biedl syndrome 7 | |
| Exudative vitreoretinopathy 7 | |
| Anal canal carcinoma | An anal canal cancer that derives_from epithelial cells. |
| Congenital chylothorax | |
| Infantile myofibromatosis | |
| Hereditary choroidal atrophy | |
| Partial central choroid dystrophy | OMIM mapping confirmed by DO. [SN]. |
| Carey-Fineman-Ziter syndrome | |
| Growth hormone secreting pituitary adenoma | OMIM mapping confirmed by DO. [SN]. |
| Spinal cord ependymoma | A spinal cord glioma that has_material_basis_in cells linking the spinal cord central canal. |
| Arrhythmogenic right ventricular dysplasia 4 | |
| Loeys-Dietz syndrome 2 | |
| myoclonic-atonic epilepsy | |
| Megalocornea | A corneal disease characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure; caused_by mutation in the CHRDL1 gene. |
| Spinal cord glioma | A spinal cancer that is located_in the spinal cord and has_material_basis_in glial cells. |
| Van Maldergem syndrome 1 | |
| Kleefstra syndrome | Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features. |
| Pylorospasm | |
| Spinocerebellar ataxia 45 | |
| Hypertropia | |
| Pituitary carcinoma | |
| Intraductal breast benign neoplasm | |
| Malignant spiradenoma | |
| Pituitary hypoplasia | |
| Ovarian mucinous neoplasm | |
| Breast intraductal proliferative lesion | |
| Autosomal recessive dyskeratosis congenita 2 | |
| Ehlers-Danlos syndrome hypermobility type | |
| Congenital kyphosis | |
| Cataract 24 | |
| Cowden syndrome 7 | |
| Tricuspid valve prolapse | |
| Stickler syndrome 1 | |
| Amelogenesis imperfecta type 1C | |
| Mosaic variegated aneuploidy syndrome 2 | |
| Bladder diverticulum | OMIM mapping confirmed by DO. [SN]. |
| Congenital disorder of glycosylation Im | |
| Perinephritis | |
| Tn polyagglutination syndrome | |
| Scleral staphyloma | |
| Hyperphosphatemic familial tumoral calcinosis | |
| Developmental coordination disorder | A specific developmental disorder that involves disordered motor skills where coordinated muscle movement is impaired. |
| Bethlem myopathy | OMIM mapping confirmed by DO. [SN]. |
| Achondrogenesis type II | An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis,a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis. |
| Tyrosinemia type II | A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. |
| Sciatic neuropathy | PRISM. |
| Osteochondritis dissecans | An ischemic bone disease that results_in necrosis located_in epiphysis. |
| Lesion of sciatic nerve | |
| Kniest dysplasia | An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. |
| Mononeuritis of lower limb | |
| obsessive-compulsive personality disorder | A personality disorder that is characterized by a pervasive pattern of preoccupation with orderliness, perfectionism, and mental and interpersonal control at the expense of flexibility, openness, and efficiency. |
| Jejunal neoplasm | |
| Hemoglobin H disease | |
| Multiple epiphyseal dysplasia | An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results_in irregular ossification centers of the located_in hip or located_in knee. The disease has_symptom fatigue, has_symptom joint pain. |
| Cleft soft palate | Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency. |
| SATB2-associated syndrome | |
| Nanophthalmos | |
| Breast rhabdomyosarcoma | |
| Breast leiomyosarcoma | |
| Breast liposarcoma | |
| Breast osteosarcoma | |
| Benign breast phyllodes tumor | |
| TARP syndrome | |
| Breast angiosarcoma | An angiosarcoma and sarcoma of breast and vascular neoplasm of breast that is located_in the cells that line the blood vessels within the breast or underarm area. |
| Breast sarcoma | A breast cancer that has_material_basis_in abnormally proliferating cells derives_from mesenchymal cells. |
| ITM2B-related cerebral amyloid angiopathy 2 | |
| Coffin-Siris syndrome 3 | |
| Atrial heart septal defect 3 | |
| Solitary median maxillary central incisor | |
| Autosomal dominant Emery-Dreifuss muscular dystrophy 2 | |
| Pseudoachondroplasia | An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism. |
| Joubert syndrome 20 | |
| Martsolf syndrome | |
| Neuronal ceroid lipofuscinosis 2 | |
| Gaucher's disease type I | |
| Familial hyperinsulinemic hypoglycemia 5 | |
| Beukes hip dysplasia | |
| Hereditary spastic paraplegia 81 | |
| Warburg micro syndrome 1 | |
| Hereditary spastic paraplegia 78 | |
| Glycogen storage disease I | A glycogen storage disease that has_material_basis_in deficiency of the glucose-6-phosphatase enzyme which impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis and is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly. |
| Apocrine adenosis of breast | |
| Congenital dyserythropoietic anemia type Ia | |
| Hereditary spastic paraplegia 42 | |
| Leber congenital amaurosis 19 | |
| Acatalasia | |
| Retinitis pigmentosa 51 | |
| Progressive myoclonus epilepsy 1A | |
| Epulis | |
| Mucosulfatidosis | OMIM mapping confirmed by DO. [SN]. |
| neurogenic-type arthrogryposis multiplex congenita-2 | |
| Lisch epithelial corneal dystrophy | |
| Axenfeld-Rieger syndrome type 1 | |
| Juvenile glaucoma | |
| Pigment dispersion syndrome | |
| Chronic closed-angle glaucoma | |
| Traumatic glaucoma | |
| Ocular hypotension | |
| Sturge-Weber syndrome | Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies. |
| Exudative vitreoretinopathy 3 | |
| Age related macular degeneration 1 | |
| Isolated microphthalmia 2 | |
| Interval angle-closure glaucoma | |
| Aqueous misdirection | |
| Absolute glaucoma | |
| Chandler syndrome | |
| Retinal macular dystrophy 4 | |
| Axenfeld-Rieger syndrome type 3 | |
| Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | |
| Basal laminar drusen | |
| agnathia-otocephaly complex | |
| Morgagni cataract | |
| Immature cataract | |
| Phacolytic glaucoma | |
| Alzheimer's disease 3 | |
| Otopalatodigital syndrome type 2 | Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival. |
| Sweeney-Cox syndrome | |
| Baylisascariasis | A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine caused by the larvae of Baylisascaris procyonis, which can invade the spinal cord, brain, and eye of humans, resulting in permanent neurologic damage, blindness, or death. |
| Borderline glaucoma | |
| Arcus senilis | OMIM mapping confirmed by DO. [SN]. |
| Congenital stationary night blindness 1B | |
| Corneal dystrophy-perceptive deafness syndrome | |
| Pierson syndrome | |
| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| Acute endophthalmitis | |
| Osteogenesis imperfecta type 4 | Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term). |
| Retinal macular dystrophy | |
| GM2 gangliosidosis, AB variant | |
| Syndactyly type 4 | |
| Argininosuccinic aciduria | An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine. |
| N-acetylglutamate synthase deficiency | |
| Carbamoyl phosphate synthetase I deficiency disease | An amino acid metabolic disorder that involves accumulation of ammonia in the blood. |
| Guanidinoacetate methyltransferase deficiency | |
| beta-ketothiolase deficiency | OMIM mapping confirmed by DO. [SN]. |
| Hypermethioninemia | An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body. |
| Short chain acyl-CoA dehydrogenase deficiency | Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy. |
| Carnitine palmitoyltransferase II deficiency | |
| Developmental and epileptic encephalopathy 11 | |
| Pyometritis | |
| pyridoxine-dependent epilepsy | |
| Glutamate formiminotransferase deficiency | |
| Oculocutaneous albinism type III | |
| AGAT deficiency | An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis. |
| Tyrosinemia type III | A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine. |
| Hemochromatosis type 5 | |
| Glutathione synthetase deficiency | |
| Molybdenum cofactor deficiency | Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase. |
| Holocarboxylase synthetase deficiency | A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase. |
| Mitochondrial trifunctional protein deficiency | Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.. |
| Succinic semialdehyde dehydrogenase deficiency | A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid. |
| gamma-amino butyric acid metabolism disorder | An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway. |
| Dissociated nystagmus | |
| L-2-hydroxyglutaric aciduria | An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia). |
| Hypermanganesemia with dystonia | |
| Classic citrullinemia | |
| X-linked dilated cardiomyopathy | disease cluster belonging to disease group cardiovascular |
| Hemochromatosis type 3 | Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin. |
| Hypermanganesemia with dystonia 2 | |
| Atransferrinemia | OMIM mapping confirmed by DO. [SN]. |
| Urocanase deficiency | |
| Molybdenum cofactor deficiency type A | |
| branched-chain keto acid dehydrogenase kinase deficiency | |
| Hereditary sensory neuropathy type 2C | |
| Oxoglutarate dehydrogenase deficiency | |
| Mitochondrial DNA depletion syndrome 3 | |
| Familial adenomatous polyposis 1 | |
| Neurodegeneration with brain iron accumulation 2a | |
| BH4-deficient hyperphenylalaninemia A | |
| Glycogen storage disease Ia | |
| Nutritional optic neuropathy | |
| Chromosome 3q29 microdeletion syndrome | |
| Acheiropody | OMIM mapping confirmed by DO. [SN]. |
| Spinal muscular atrophy with lower extremity predominant | |
| Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | |
| Unverricht-Lundborg syndrome | OMIM mapping confirmed by DO. [LS]. |
| Isolated sulfite oxidase deficiency | |
| Metatropic dysplasia | Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood. |
| Ectodermal dysplasia 9 | |
| Syndromic microphthalmia 1 | |
| Pontocerebellar hypoplasia type 1C | |
| Ogden syndrome | An X-linked disease resulting from a deficiency in N-terminal acetyltransferase, characterized by postnatal growth failure with severe delays and dysmorphic features in boys. |
| Pontocerebellar hypoplasia type 1D | |
| Progressive muscular atrophy | |
| Arboleda-Tham syndrome | |
| Myxopapillary ependymoma | |
| Familial temporal lobe epilepsy 3 | |
| Petrositis | |
| Parkinson's disease 20 | |
| BN2 diffuse large B-cell lymphoma | |
| Malignant leptomeningeal neoplasm | |
| Rectosigmoid cancer | |
| Rectosigmoid junction cancer | |
| Isolated cleft palate | |
| dextro-looped transposition of the great arteries | |
| adult-onset autosomal dominant demyelinating leukodystrophy | |
| Septooptic dysplasia | |
| non-proliferative fibrocystic change of the breast | |
| Breast fibrocystic disease | |
| Pineoblastoma | A pineal gland neoplasm located_in the brain. |
| Pineal gland cancer | An endocrine gland located_in the pineal gland located in the brain. |
| Fibroepithelial basal cell carcinoma | |
| Basosquamous carcinoma | |
| Malignant syringoma | |
| Pituitary blastoma | |
| Medulloepithelioma | |
| non-syndromic X-linked intellectual disability | A non-syndromic intellectual disability characterized by a X-linked inheritance pattern. |
| Kidney sarcoma | A kidney cancer that is located_in the kidney's connective tissue. |
| Diabetic autonomic neuropathy | |
| Familial temporal lobe epilepsy 1 | |
| Spastic hemiplegia | A spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. On the affected side,the arm and leg may not develop normally. |
| Phosphoglycerate kinase 1 deficiency | |
| Klippel-Feil syndrome 3 | |
| Hypermobility of coccyx | |
| Basilar artery insufficiency | |
| Clear cell meningioma | |
| Cataract 8 multiple types | |
| Brown-Sequard syndrome | |
| Aceruloplasminemia | An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus. |
| Congenital nongoitrous hypothyroidism 4 | |
| Schizophrenia 4 | |
| Vertebral artery insufficiency | |
| Congenital muscular dystrophy-dystroglycanopathy type A1 | |
| Hereditary spastic paraplegia 75 | |
| Spontaneous ocular nystagmus | |
| Vestibular nystagmus | |
| Cervical dystonia | A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards. |
| Chromosome 3q29 microduplication syndrome | |
| Coenurosis | A parasitic helminthiasis infectious disease that involves infection by metacestode larval stage (coenurus) of Taenia multiceps or Taenia serialis. Coenuri in the skin or subcutaneous tissue present as painless nodules, which manifest on the trunk, sclera, subconjuctiva, neck, shoulders, head and limbs. Coenuri in the central nervous system may cause headache, fever, vomiting, nerve palsies, jacksonian epilepsy, pachymeningitis, obstructive or communicating hydrocephalus, and intracranial arteritis with transient hemiparesis. Coenuri in the eye cause both intraocular and orbital infections. |
| Congenital stationary night blindness 1A | |
| Olivopontocerebellar atrophy | A spinocerebellar ataxia that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives. |
| Kummell's disease | |
| Spondylometaphyseal dysplasia Sedaghatian type | |
| Renal Wilms' tumor | |
| X-linked thrombocytopenia with beta-thalassemia | |
| Amyotrophic lateral sclerosis type 15 | A type of ALS caused_by mutation located_in UBQLN 2 gene located_in X chromosome. |
| Adult hepatocellular carcinoma | |
| Carotid artery dissection | |
| Spermatogenic failure 53 | |
| Autosomal recessive spinocerebellar ataxia 13 | |
| Agammaglobulinemia 4 | |
| Bardet-Biedl syndrome 1 | |
| Familial expansile osteolysis | |
| Hereditary lymphedema II | |
| Amelogenesis imperfecta type 3A | |
| Parametritis | |
| Lutembacher's syndrome | |
| Meige syndrome | A cranio-facial dystonia that is accompanied by blepharospasm. |
| Autosomal recessive spinocerebellar ataxia 14 | |
| Primary biliary cholangitis 3 | |
| Familial hemophagocytic lymphohistiocytosis 3 | |
| Familial hemophagocytic lymphohistiocytosis 5 | |
| Chromosome 17p13.3 duplication syndrome | |
| Posterior amorphous corneal dystrophy | |
| Acromicric dysplasia | Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands. |
| Autosomal dominant cutis laxa | |
| Shoulder impingement syndrome | |
| Secondary corneal edema | |
| Multiple epiphyseal dysplasia 5 | |
| Regular astigmatism | |
| Granular corneal dystrophy 1 | |
| Reis-Bucklers corneal dystrophy | |
| Disabling pansclerotic morphea | |
| Dentin caries | |
| Spondyloperipheral dysplasia | |
| Atrial heart septal defect 6 | |
| Copper deficiency myelopathy | |
| Torrance type platyspondylic dysplasia | |
| Renal artery atheroma | |
| Calcific tendinitis | |
| Chondrodysplasia with joint dislocations gPAPP type | |
| Spondyloepiphyseal dysplasia congenita | OMIM mapping confirmed by DO. [SN]. |
| cone-rod dystrophy 21 | |
| Achard syndrome | |
| Scleredema adultorum | |
| Dilated cardiomyopathy 1X | |
| Blepharochalasis | |
| Chondroblastic osteosarcoma | |
| Stiff skin syndrome | |
| Ollier disease | A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet. |
| Porencephaly | NT MGI. |
| Posterior polymorphous corneal dystrophy 1 | |
| Otospondylomegaepiphyseal dysplasia, autosomal recessive | |
| Spinocerebellar ataxia type 38 | |
| Vascular type Ehlers-Danlos syndrome | |
| Klippel-Feil syndrome 1 | |
| Her2-receptor positive breast cancer | |
| Localized chondrosarcoma | |
| Frontonasal dysplasia 3 | |
| Pycnodysostosis | An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges. |
| Cogan-Reese syndrome | |
| Congenital symmetric circumferential skin creases 1 | |
| Primary hypertrophic osteoarthropathy | OMIM mapping confirmed by DO. [SN]. |
| Central corneal ulcer | |
| Immunodeficiency 48 | |
| Autosomal recessive hypophosphatemic rickets | |
| Tonsil squamous cell carcinoma | |
| Ossifying fibroma | A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma. |
| Retinitis pigmentosa 41 | |
| Autosomal recessive cutis laxa type IIB | |
| Tracheal calcification | |
| Epithelial recurrent erosion dystrophy | |
| Spondylolysis | A bone structure disease that involves a defect located_in lumbar vertebral column. |
| Proliferative type fibrocystic change of breast | |
| salpingo-oophoritis | |
| Osteogenesis imperfecta type 8 | |
| Linear skin defects with multiple congenital anomalies 1 | |
| non-secretory myeloma | |
| Inflammatory bowel disease 19 | |
| Retinitis pigmentosa 90 | |
| Dilated cardiomyopathy 1FF | |
| Muscular dystrophy-dystroglycanopathy type B2 | |
| Developmental and epileptic encephalopathy 25 | |
| Kohlschutter-Tonz syndrome | |
| microcephaly, growth deficiency, seizures, and brain malformations | |
| Agammaglobulinemia 3 | |
| Autosomal dominant distal hereditary motor neuronopathy 1 | |
| Hypertrophic cardiomyopathy 7 | |
| Muscular dystrophy-dystroglycanopathy type C8 | |
| Torsion dystonia 6 | |
| Dilated cardiomyopathy 2A | |
| Autosomal dominant intellectual developmental disorder 10 | |
| Restrictive cardiomyopathy 1 | |
| White-Sutton syndrome | |
| Neuronal ceroid lipofuscinosis 6A | |
| Charcot-Marie-Tooth disease recessive intermediate D | |
| Mobitz type II atrioventricular block | |
| Vascular skin disease | |
| Treacher Collins syndrome 1 | |
| Plethora of newborn | |
| Primary hypoalphalipoproteinemia 1 | |
| Leber congenital amaurosis 12 | |
| cone-rod dystrophy 17 | |
| Retinal cone dystrophy 1 | |
| Bradyopsia | |
| Choroidal sclerosis | OMIM mapping confirmed by DO. [SN]. |
| Bardet-Biedl syndrome 4 | |
| Congenital stationary night blindness autosomal dominant 2 | |
| cone-rod dystrophy 7 | |
| Autosomal dominant intellectual developmental disorder 3 | |
| Oguchi disease-1 | |
| Blue cone monochromacy | An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance. |
| Oguchi disease-2 | |
| Hereditary spherocytosis type 1 | |
| Autosomal dominant centronuclear myopathy | |
| red-green color blindness | Xref MGI. |
| Leber congenital amaurosis 9 | |
| cone-rod dystrophy 5 | |
| Retinal macular dystrophy 3 | |
| Red color blindness | |
| Occult macular dystrophy | A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings. |
| Spinocerebellar ataxia type 17 | |
| Nominal aphasia | An agnosia that involves a severe problem with recalling words or names. |
| Logopenic progressive aphasia | Logopenic progressive aphasia (lv-PPA) is a form of primary progressive aphasia (PPA; see this term), characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge. |
| Prosopagnosia | An agnosia that results in the loss of the ability to consciously recognize familiar faces. |
| Associative agnosia | An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them. |
| Perry syndrome | Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression. |
| Dyscalculia | A learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page. |
| Pedophilia | |
| Amusia | An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals. |
| Corticobasal degeneration syndrome | |
| Echolalia | A speech disorder that involves the automatic repetition of vocalizations made by another person. |
| Paraphilia disorder | |
| Auditory agnosia | An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal. |
| Autosomal recessive spinocerebellar ataxia 7 | |
| Finger agnosia | An agnosia that is a loss of the ability to distinguish the fingers on the hand. |
| Visual agnosia | An agnosia that is a loss of the ability to visually recognize objects. |
| Phonagnosia | |
| Gait apraxia | |
| Anosognosia | An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments. |
| Gerstmann syndrome | A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia. |
| Inflammatory bowel disease 2 | |
| Apperceptive agnosia | An agnosia that is a loss of the ability to distinguish visual shapes. |
| Gaucher's disease type II | |
| Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 | |
| Vascular Parkinsonism | |
| Gerstmann-Straussler-Scheinker syndrome | A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain. |
| Kluver-Bucy syndrome | An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior. |
| Basophilic adenocarcinoma | |
| Autosomal recessive chronic granulomatous disease 1 | |
| Kuru | |
| Simultanagnosia | An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time. |
| Niemann-Pick disease type B | |
| juvenile-onset Parkinson's disease | |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | |
| Cortical deafness | An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact. |
| Adrenal cortical adenocarcinoma | An adrenalcortical carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin. |
| Friedreich ataxia 1 | |
| Myotonic dystrophy type 2 | A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_physical_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one. |
| Amyotrophic lateral sclerosis type 6 | A type of ALS caused_by mutation located_in FUS gene located_in chromosome 16. |
| Astereognosia | An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight. |
| X-linked dystonia-parkinsonism | |
| Color agnosia | |
| Spinocerebellar ataxia type 8 | |
| Cyclothymic disorder | A bipolar disorder that involves recurrent hypomanic and dysthymic episodes, but no full manic episodes or full major depressive episodes. |
| Combined oxidative phosphorylation deficiency 32 | |
| Ophthalmomyiasis | A myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain. |
| Wernicke-Korsakoff syndrome | OMIM mapping confirmed by DO. [LS]. |
| Juvenile amyotrophic lateral sclerosis with dementia | |
| Galloway-Mowat syndrome 2 | |
| Axial spondylometaphyseal dysplasia | |
| Glycerol kinase deficiency | |
| Neurodegeneration with brain iron accumulation 3 | |
| Kleptomania | An impulse control disorder that involves the repeated impulse to steal for no great gain, when he or she has sufficient money to pay for the item and no need for what is stolen. |
| Cataract 6 multiple types | |
| Nonprogressive cerebellar ataxia with mental retardation | |
| NFIA-related disorder | |
| Dopamine transporter deficiency syndrome | |
| Generalized dystonia | A dystonia that affects most or all of the body. |
| Spastic ataxia 1 | |
| Familial hemophagocytic lymphohistiocytosis 4 | |
| X-linked cone-rod dystrophy 2 | |
| Autosomal dominant Robinow syndrome 1 | |
| Developmental and epileptic encephalopathy 73 | |
| Factor V deficiency | OMIM mapping confirmed by DO. [SN]. |
| Nephronophthisis 2 | |
| Bartter disease type 4a | |
| X-linked cone-rod dystrophy 1 | |
| Bronchus adenoma | |
| Gestational diabetes insipidus | |
| Chief cell adenoma | |
| Cellular leiomyoma | |
| Autosomal recessive limb-girdle muscular dystrophy type 2X | |
| Bronchus carcinoma | A bronchus cancer that has_material_basis_in epithelial cells. |
| Bartter disease type 2 | |
| Distal myopathy with anterior tibial onset | |
| Cerebellar ataxia, mental retardation and dysequlibrium syndrome | |
| Familial hypocalciuric hypercalcemia 1 | |
| Lung leiomyoma | |
| Mixed receptive-expressive language disorder | |
| Heparin cofactor II deficiency | |
| Acute pericementitis | |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | |
| IDH-wildtype anaplastic astrocytoma | |
| Basilar artery occlusion | |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | |
| locked-in syndrome | |
| Autosomal recessive limb-girdle muscular dystrophy type 2G | |
| Opitz GBBB syndrome | |
| Seckel syndrome 1 | |
| blepharophimosis, ptosis, and epicanthus inversus syndrome | OMIM mapping confirmed by DO. [SN]. |
| 7q11.23 duplication syndrome | |
| Microcephalic osteodysplastic primordial dwarfism type II | Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease. |
| Posterior myocardial infarction | |
| Fanconi anemia complementation group J | |
| Lacrimal duct obstruction | |
| Syringocystadenoma papilliferum | |
| Diffuse low-grade glioma, MAPK pathway–altered | |
| Diffuse astrocytoma, MYB- or MYBL1-altered | |
| Joubert syndrome 23 | |
| Spinocerebellar ataxia type 29 | |
| Spinocerebellar ataxia type 5 | |
| Stocco Dos Santos type X-linked intellectual disability | |
| non-syndromic X-linked intellectual disability 98 | |
| non-syndromic X-linked intellectual disability 91 | |
| non-syndromic X-linked intellectual disability 58 | |
| Photosensitive epilepsy | |
| Tonne-Kalscheuer syndrome | |
| Combined oxidative phosphorylation deficiency 21 | |
| deafness-intellectual disability, Martin-Probst type syndrome | |
| Dilated cardiomyopathy 1HH | |
| Schizophrenia 12 | |
| Schizophrenia 11 | |
| Cataract 40 | |
| Schizophrenia 8 | |
| Schizophrenia 7 | |
| Schizophrenia 6 | |
| Developmental and epileptic encephalopathy 26 | |
| Inflammatory bowel disease 22 | |
| Chromosome Xp11.22 duplication syndrome | |
| X-linked hypoparathyroidism | |
| Raynaud-Claes syndrome | |
| Normophosphatemic familial tumoral calcinosis | |
| Schizophrenia 3 | |
| Familial adult myoclonic epilepsy 1 | |
| Wilson-Turner syndrome | |
| X-linked deafness 1 | |
| Syndromic X-linked intellectual disability Claes-Jensen type | |
| Mucinous stomach adenocarcinoma | |
| Schizophrenia 2 | |
| Corpus callosum agenesis-abnormal genitalia syndrome | |
| Osteopathia striata with cranial sclerosis | |
| Charcot-Marie-Tooth disease X-linked recessive 5 | |
| Koolen de Vries syndrome | A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_physical_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene. |
| Diaphragmatic eventration | |
| Early onset absence epilepsy | A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years. |
| Reflex epilepsy | |
| Arts syndrome | An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene. |
| Schizophrenia 1 | |
| Familial focal epilepsy with variable foci | |
| Charcot-Marie-Tooth disease type 2E | |
| Landau-Kleffner syndrome | OMIM mapping confirmed by DO. [SN]. |
| Hydranencephaly | |
| Rippling muscle disease 2 | |
| Clear cell ependymoma | |
| Junctional epidermolysis bullosa with pyloric atresia | |
| Epithelial basement membrane dystrophy | |
| Autosomal dominant cerebellar ataxia, deafness and narcolepsy | |
| Chromosome 2q37 deletion syndrome | |
| Long QT syndrome 9 | |
| Fibrosarcomatous osteosarcoma | |
| Fanconi anemia complementation group N | |
| Congenital myasthenic syndrome 10 | |
| Mixed sleep apnea | |
| Diverticulitis of colon | |
| Atrial heart septal defect 5 | |
| Primary ciliary dyskinesia 27 | |
| Acrorenal syndrome | |
| Glottis squamous cell carcinoma | |
| Osteogenesis imperfecta type 7 | |
| Autosomal dominant nonsyndromic deafness 24 | |
| Neurocirculatory asthenia | A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormatlities. |
| Phlebotomus fever | A viral infectious disease that results_in infection, has_material_basis_in Sandfly fever Naples virus, or has_material_basis_in Sandfly fever sicilian virus, which are transmitted_by Phlebotomus papatasi sandfly. The infection has_symptom fever, has_symptom severe frontal headaches, has_symptom muscle ache, has_symptom joint aches, has_symptom flushing of the face, and has_symptom tachycardia. |
| Hypercementosis | |
| Spleen angiosarcoma | An angiosarcoma and hemangioma of intra-abdominal structure and malignant soft tissue neoplasm of the spleen that results_in a nonhematolymphoid malignant neoplasm of the spleen. |
| Dental pulp calcification | |
| Glottis carcinoma | |
| Winchester syndrome | |
| Glottis cancer | |
| CEDNIK syndrome | |
| Distal arthrogryposis type 2B | |
| Syndromic X-linked intellectual disability type 10 | |
| GAND syndrome | |
| Spinocerebellar ataxia type 18 | |
| Breast apocrine carcinoma | |
| Chromosome 15q24 deletion syndrome | |
| Congenital adrenal insufficiency | OMIM mapping confirmed by DO. [SN]. |
| Syndromic X-linked intellectual disability Najm type | |
| Branchiootic syndrome | A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome. |
| Cortical dysplasia-focal epilepsy syndrome | |
| Freeman-Sheldon syndrome | |
| Nicolaides-Baraitser syndrome | |
| Hypomyelinating leukodystrophy 22 | |
| Hypomyelinating leukodystrophy 23 | |
| Hypomyelinating leukodystrophy 24 | |
| Hypomyelinating leukodystrophy 19 | |
| Hypomyelinating leukodystrophy 21 | |
| Hypomyelinating leukodystrophy 16 | |
| Hypomyelinating leukodystrophy 13 | |
| Hypomyelinating leukodystrophy 17 | |
| Hypomyelinating leukodystrophy 15 | |
| Hypomyelinating leukodystrophy 12 | |
| Hypomyelinating leukodystrophy 5 | |
| Hypomyelinating leukodystrophy 11 | |
| Amyotrophic lateral sclerosis type 3 | A type of ALS with loci associated with the disease located_in chromosome 18. |
| Hypomyelinating leukodystrophy 18 | |
| Neonatal thyrotoxicosis | |
| Hypomyelinating leukodystrophy 10 | |
| Pyriform sinus cancer | |
| Hypomyelinating leukodystrophy 2 | |
| Pituitary adenoma 1 | |
| Developmental and epileptic encephalopathy 16 | |
| Alzheimer's disease 14 | |
| Charcot-Marie-Tooth disease type 1G | |
| Noonan syndrome 13 | |
| Sertoli cell tumor | |
| Pontocerebellar hypoplasia type 7 | |
| Leydig cell tumor | |
| Voyeurism | |
| Lactocele | |
| Intraductal papilloma | |
| Thalassemia minor | |
| Lateral medullary syndrome | |
| Childhood infratentorial ependymoma | |
| Choroid plexus carcinoma | A choroid plexus cancer that has_material_basis_in epithelial cells of the choroid plexus. |
| Fetal akinesia deformation sequence syndrome | |
| Compton-North congenital myopathy | |
| Heimler syndrome 1 | |
| Amelogenesis imperfecta hypomaturation type 2A5 | |
| Amelogenesis imperfecta type 1J | |
| Developmental and epileptic encephalopathy 93 | |
| Renal hypomagnesemia 5 with ocular involvement | |
| ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | |
| Immunodeficiency 9 | |
| Amelogenesis imperfecta type 4 | |
| Osteogenesis imperfecta type 12 | |
| Trichodontoosseous syndrome | |
| Reticulate acropigmentation of Kitamura | A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present. |
| brachyolmia-amelogenesis imperfecta syndrome | |
| MLS syndrome | |
| Scapuloperoneal myopathy | A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm. |
| Bladder calculus | |
| Charcot-Marie-Tooth disease type 4F | Charcot-Marie-Tooth disease, type 4F (CMT4F) is a demyelinating CMT peripheral sensorimotor polyneuropathy. |
| Aplasia of lacrimal and salivary glands | Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation. |
| Lower urinary tract calculus | A urinary system disease that is located_in the lower urinary tract and is characterized by the formation of a stone. |
| Charcot-Marie-Tooth disease type 3 | OMIM mapping confirmed by DO. [SN]. |
| Arrhythmogenic right ventricular dysplasia 8 | |
| Arrhythmogenic right ventricular dysplasia 9 | |
| Arrhythmogenic right ventricular dysplasia 6 | |
| Arrhythmogenic right ventricular dysplasia 12 | |
| Arrhythmogenic right ventricular dysplasia 10 | |
| ankyrin-B-related cardiac arrhythmia | |
| Holoprosencephaly 1 | |
| Long QT syndrome 4 | |
| Retinitis pigmentosa 7 | |
| Long QT syndrome 14 | |
| Progressive familial heart block | |
| Long QT syndrome 13 | |
| Tibial muscular dystrophy | |
| Breast giant fibroadenoma | |
| Long QT syndrome 15 | |
| Arrhythmogenic right ventricular dysplasia 13 | |
| Progressive familial heart block type IA | |
| Long QT syndrome 10 | |
| Alcoholic cardiomyopathy | |
| Autosomal recessive spinocerebellar ataxia 27 | |
| Long QT syndrome 6 | |
| Restrictive cardiomyopathy 3 | |
| Distal myopathy 1 | |
| Supine hypotensive syndrome | A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus. |
| Long QT syndrome 12 | |
| Keratosis palmoplantaris striata | |
| wild-type amyloidosis | |
| Pulmonary valve stenosis | |
| Inferior myocardial infarction | |
| Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | |
| Loeffler endocarditis | A restrictive cardiomyopathy that affects the endocardium and occurs with white blood cell proliferation, specifically of eosinophils. |
| Dilated cardiomyopathy 1H | |
| Becker disease | |
| Autosomal dominant Emery-Dreifuss muscular dystrophy 7 | |
| Bladder transitional cell papilloma | |
| Marshall-Smith syndrome | A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. |
| Toxic myocarditis | |
| Bladder papillary transitional cell neoplasm | |
| Urinary tract papillary transitional cell benign neoplasm | |
| X-linked Emery-Dreifuss muscular dystrophy 1 | |
| Long QT syndrome 8 | |
| twin-to-twin transfusion syndrome | |
| Hyaline body myopathy | |
| De Quervain disease | |
| Multiple synostoses syndrome 2 | |
| Primary ciliary dyskinesia 35 | |
| Denys-Drash syndrome | An autosomal dominant disease that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene). |
| Homocarnosinosis | A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine. |
| Renal pelvis transitional cell carcinoma | |
| Brachydactyly type E1 | |
| Tactile agnosia | An agnosia that is a loss of the ability to recognize or identify objects by touch alone. |
| Endometrial stromal nodule | |
| Primary ciliary dyskinesia 7 | |
| Rh deficiency syndrome | OMIM mapping confirmed by DO. [SN]. |
| Chromosome 18q deletion syndrome | |
| Humeroradial synostosis | An abnormal osseous union (fusion) between the radius and the humerus. |
| Persistent Mullerian duct syndrome | A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male. |
| Charcot-Marie-Tooth disease axonal type 2Q | |
| Hormone producing pituitary cancer | |
| Hereditary sensory neuropathy type 1E | |
| Familial apolipoprotein C-II deficiency | |
| Nodular hidradenoma | |
| Brain ependymoma | |
| Eccrine papillary adenocarcinoma | |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | |
| Brachydactyly type C | |
| Optic atrophy 11 | |
| progesterone-receptor positive breast cancer | |
| Charcot-Marie-Tooth disease type 4B1 | Charcot-Marie-Tooth disease, type 4B1 (CMT4B1) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy. |
| Sennetsu fever | A primary bacterial infectious disease that results_in infection, has_material_basis_in Neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia. |
| Developmental and epileptic encephalopathy 53 | |
| Bannayan-Riley-Ruvalcaba syndrome | OMIM mapping confirmed by DO. [SN]. |
| Charcot-Marie-Tooth disease type 4B2 | Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy. |
| macrocephaly-autism syndrome | |
| Joubert syndrome 1 | |
| Ceruminoma | |
| Colloid carcinoma of the pancreas | |
| Cayman type cerebellar ataxia | |
| Developmental and epileptic encephalopathy 7 | |
| Luminal breast carcinoma A | |
| Proteus syndrome | OMIM mapping confirmed by DO. [SN]. |
| Charcot-Marie-Tooth disease type 4B3 | |
| Ritscher-Schinzel syndrome | |
| Hemochromatosis type 1 | |
| Sclerosing hemangioma | |
| Micronodular basal cell carcinoma | |
| Adult spinal cord ependymoma | |
| Hypoglycemic coma | |
| Ovarian squamous cell carcinoma | |
| Familial hyperinsulinemic hypoglycemia 1 | |
| Chromosome 22q11.2 microduplication syndrome | |
| Combined deficiency of vitamin K-dependent clotting factors 1 | |
| Adult oligodendroglioma | |
| Pathological gambling | An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life. |
| Hereditary combined deficiency of vitamin K-dependent clotting factors | |
| Brain small vessel disease 1 | |
| CST3-related cerebral amyloid angiopathy | |
| Brain small vessel disease | |
| Familial hypocalciuric hypercalcemia 2 | |
| Familial hypocalciuric hypercalcemia 3 | |
| Meningeal melanocytoma | |
| Central nervous system melanocytic neoplasm | |
| Meningeal melanoma | |
| Posterior uveal melanoma | |
| Meningeal melanomatosis | |
| Epithelioid cell melanoma | |
| Rapidly involuting congenital hemangioma | |
| Klippel-Trenaunay syndrome | A rare congenital syndrome characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. |
| Melanomatosis | |
| Epidermal nevus | Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood. |
| Hypomelanosis of Ito | |
| Melanotic neurilemmoma | |
| Diffuse meningeal melanocytosis | |
| Large congenital melanocytic nevus | |
| Pseudohypoparathyroidism | OMIM mapping confirmed by DO. [SN]. |
| Conjunctival nevus | |
| CLOVES syndrome | |
| Osteitis fibrosa | A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone. |
| Intraocular mixed cell type melanoma | |
| Malignant ciliary body melanoma | |
| Sensory organ benign neoplasm | A nervous system benign neoplasm that is located_in a sensory organ. |
| Ciliary body cancer | |
| Scrotum melanoma | |
| Familial multiple nevi flammei | |
| Childhood leptomeningeal melanoma | |
| Albright's hereditary osteodystrophy | An osteochondrodysplasia that has_material_basis_in lack of responsiveness to parathyroid hormone which results_in shortening and widening of long bones of the located_in hand or located_in foot along with short stature, obesity, and rounded face. |
| Ovarian melanoma | |
| Multiple endocrine neoplasia type 4 | |
| Malignant anus melanoma | |
| Foramen magnum meningioma | |
| Spindle cell hemangioma | |
| Oculoectodermal syndrome | |
| Iris spindle cell melanoma | |
| Multiple cutaneous and mucosal venous malformations | An autosomal dominant disease that is characterized by multiple bluish cutaneous or mucosal venous lesions. |
| Retinitis pigmentosa 35 | |
| Pilomyxoid astrocytoma | |
| IMAGe syndrome | A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_physical_basis_in heterozygous mutation in the CDKN1C gene. |
| Pseudopseudohypoparathyroidism | OMIM mapping confirmed by DO. [SN]. |
| Spindle cell oncocytoma | |
| Eccrine acrospiroma | |
| Sveinsson chorioretinal atrophy | |
| Maffucci syndrome | |
| Eccrine porocarcinoma | |
| Eccrine sweat gland neoplasm | |
| hypoparathyroidism-retardation-dysmorphism syndrome | |
| Pituicytoma | |
| Pseudopapilledema | OMIM mapping confirmed by DO. [SN]. |
| Melanotic medulloblastoma | |
| Childhood angiosarcoma | |
| Trilateral retinoblastoma | A retinoblastoma that refers to bilateral retinoblastoma associated with an intracranial primitive neuroectodermal tumor located_in the pineal or suprasellar region. |
| Posterior pituitary gland neoplasm | |
| Mediastinum teratoma | |
| Generalized lymphatic anomaly | |
| Scrotum neoplasm | |
| Eccrine adenocarcinoma | An eccrine sweat gland cancer that derives_from epithelial cells of glandular origin. |
| Cardiofaciocutaneous syndrome 4 | |
| Galactose epimerase deficiency | Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism. |
| Spinal cord melanoma | |
| Bilateral retinoblastoma | A retinoblastoma that develops in both eyes. |
| Stork bite | |
| Clear cell adenoma | An adenoma that is composed_of cells with a clear cytoplasm located_in ovary. |
| Squamous papillomatosis | |
| Developmental and epileptic encephalopathy 48 | |
| Orbit rhabdomyosarcoma | |
| Progressive osseous heteroplasia | |
| Immunodeficiency 7 | |
| Desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma | |
| Cardiofaciocutaneous syndrome 1 | |
| Autosomal dominant hypocalcemia 1 | |
| Lipoadenoma | An adenoma that is composed_of adipose tissue. |
| Diffuse leptomeningeal glioneuronal tumor | |
| Autosomal dominant intellectual developmental disorder 56 | |
| Orbit sarcoma | |
| Orbit lymphoma | |
| Brachydactyly type E2 | |
| Congenital nongoitrous hypothyroidism 1 | |
| Childhood pilocytic astrocytoma | |
| water-clear cell adenoma | An adenoma that derives_from epithelial cells which have clear cytoplasm. |
| Melanotic neuroectodermal tumor | |
| Pseudohypoparathyroidism type IB | |
| Astroblastoma | |
| Blepharocheilodontic syndrome 1 | |
| Adult teratoma | |
| Brain angioma | |
| Hobnail hemangioma | |
| Spondyloepiphyseal dysplasia Maroteaux type | |
| Transient refractive change | |
| Accommodative spasm | |
| 46,XY sex reversal 10 | |
| Wolcott-Rallison syndrome | Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure. |
| Spondyloepimetaphyseal dysplasia, Strudwick type | A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). |
| Familial GPIHBP1 deficiency | |
| Cerebellopontine angle tumor | |
| Familial lipase maturation factor 1 deficiency | |
| Syndromic X-linked intellectual disability Snyder type | |
| Chordoid meningioma | |
| Mixed fibrolamellar hepatocellular carcinoma | |
| Conventional fibrosarcoma | |
| BCOR ITD sarcoma | |
| Adult fibrosarcoma | |
| Isolated growth hormone deficiency type II | |
| Intraventricular meningioma | |
| Embryonal testis carcinoma | An embryonal carcinoma that is located_in the testis. |
| Algoneurodystrophy | |
| Autosomal dominant intellectual developmental disorder 41 | |
| Shukla-Vernon syndrome | |
| ataxia-telangiectasia-like disorder-2 | |
| B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 | |
| Syndromic X-linked intellectual disability Turner type | |
| Nephrotic syndrome type 1 | |
| Loeys-Dietz syndrome 1 | |
| Hodgkin's lymphoma, mixed cellularity | |
| B-lymphoblastic leukemia/lymphoma with iAMP21 | |
| Rh isoimmunization | |
| Ovarian clear cell adenocarcinoma | |
| Chromosome 17q23.1-q23.2 deletion syndrome | |
| Li-Fraumeni syndrome 2 | |
| Acromelic frontonasal dysostosis | |
| triple-receptor negative breast cancer | |
| Acute myeloid leukemia without maturation | |
| Testicular leukemia | |
| B-lymphoblastic leukemia/lymphoma with hypodiploidy | |
| Diffuse large B-cell lymphoma germinal center B-cell type | |
| Alpha chain disease | A heavy chain disease that results from an overproduction of alpha antibodies (IgA). |
| Autosomal dominant intellectual developmental disorder 5 | |
| Monoclonal paraproteinemia | |
| Ovarian lymphoma | |
| Bladder lymphoma | |
| Puerperal pulmonary embolism | |
| Mixed phenotype acute leukemia, B/myeloid | |
| Immunodeficiency 54 | |
| Gamma heavy chain disease | A heavy chain disease that results from an overproduction of gamma antibody (IgG). |
| Skeletal muscle neoplasm | |
| Acute myeloid leukemia with maturation | |
| B-lymphoblastic leukemia/lymphoma MLL rearranged | |
| Hyperglobulinemic purpura | |
| Complement component 7 deficiency | NT MGI. |
| B-lymphoblastic leukemia/lymphoma with BCR-ABL1 | |
| Core binding factor acute myeloid leukemia | |
| Retroperitoneal lymphoma | |
| Epithelioid leiomyosarcoma | |
| SM-AHNMD | |
| Primary diffuse large B-cell lymphoma of the central nervous system | |
| Photosensitive trichothiodystrophy 2 | |
| Corpus luteum cyst | |
| methotrexate-associated lymphoproliferation | |
| Meier-Gorlin syndrome | An autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia and hypoplastic patellae. |
| Cystadenofibroma | An adenofibroma that is composed_of epithelial ovarian tissue. |
| 46,XY sex reversal 1 | |
| Luteoma | |
| Congenital heart defects, hamartomas of tongue, and polysyndactyly | |
| Y-linked spermatogenic failure 2 | |
| Bardet-Biedl syndrome 15 | |
| Endometrial mixed adenocarcinoma | |
| Chronic monocytic leukemia | |
| Lissencephaly 4 | |
| Ayme-Gripp syndrome | |
| Familial partial lipodystrophy type 1 | |
| Glycogen storage disease IX | |
| Syndromic microphthalmia 2 | |
| Benign familial neonatal epilepsy | |
| Kagami-Ogata syndrome | |
| Catecholaminergic polymorphic ventricular tachycardia 4 | |
| Developmental and epileptic encephalopathy 52 | |
| Hypertrophic cardiomyopathy 4 | |
| Lethal congenital glycogen storage disease of heart | |
| Hypogonadotropic hypogonadism 4 with or without anosmia | |
| Developmental and epileptic encephalopathy 13 | |
| Brugada syndrome 4 | |
| Simpson-Golabi-Behmel syndrome type 1 | |
| Progressive familial heart block type II | |
| TANGO2-related metabolic encephalopathy and arrythmias | |
| Nephrogenic diabetes insipidus type 2 | |
| Scimitar syndrome | |
| Brugada syndrome 5 | |
| Developmental and epileptic encephalopathy 14 | |
| Klippel-Feil syndrome 4 | |
| Combined malonic and methylmalonic acidemia | |
| Paroxysmal nonkinesigenic dyskinesia 3 | |
| leucine-sensitive hypoglycemia of infancy | |
| Donnai-Barrow syndrome | Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common (see these terms). |
| Progressive familial heart block type IB | |
| Dilated cardiomyopathy 1KK | |
| Orofaciodigital syndrome X | |
| Spinocerebellar ataxia type 19/22 | |
| Episodic ataxia type 2 | |
| Isolated elevated serum creatine phosphokinase levels | |
| Noonan syndrome 5 | |
| Ring dermoid of cornea | |
| Renal hypomagnesemia 4 | |
| Uremic neuropathy | |
| Alternating hemiplegia of childhood | A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body. |
| Congenital myasthenic syndrome 15 | |
| Complex cortical dysplasia with other brain malformations 2 | |
| Autosomal dominant nonsyndromic deafness 74 | |
| Hypertrophic cardiomyopathy 9 | |
| Verbal auditory agnosia | An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful. |
| Brugada syndrome 3 | |
| Cataract 1 multiple types | |
| Noonan syndrome with multiple lentigines 2 | |
| Charcot-Marie-Tooth disease type 2B1 | Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy. |
| Craniosynostosis 7 | |
| Mutilating palmoplantar keratoderma with periorificial keratotic plaques | |
| Familial episodic pain syndrome | |
| Bardet-Biedl syndrome 13 | |
| Anterior segment dysgenesis 5 | |
| Mitchell syndrome | |
| T-cell immunodeficiency, congenital alopecia, and nail dystrophy | |
| Maxillary cancer | |
| Frey syndrome | OMIM mapping confirmed by DO. [SN]. |
| Luminal breast carcinoma B | |
| Premature ejaculation | |
| Urethra clear cell adenocarcinoma | |
| Pigmented basal cell carcinoma | |
| Dyskinetic cerebral palsy | A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions. |
| Vulto-van Silfout-de Vries syndrome | |
| Familial febrile seizures 2 | |
| X-linked properdin deficiency | |
| Multicentric carpotarsal osteolysis syndrome | |
| Microcephalic osteodysplastic primordial dwarfism type I | |
| Ulcerative blepharitis | |
| Autosomal recessive nonsyndromic deafness 59 | |
| Photokeratitis | |
| Dilated cardiomyopathy 1P | |
| Retinitis pigmentosa 13 | |
| Noonan syndrome 10 | |
| Spinocerebellar ataxia type 23 | |
| Autosomal recessive distal hereditary motor neuronopathy 1 | |
| Autosomal recessive distal hereditary motor neuronopathy | |
| Embryonal tumor with multilayered rosettes | |
| Nephrotic syndrome type 21 | |
| Nephrotic syndrome type 22 | |
| progesterone-receptor negative breast cancer | |
| Optic atrophy 10 | |
| Neuronal ceroid lipofuscinosis 1 | |
| Bladder squamous cell carcinoma | A carcinoma of bladder that is manifested in squamous cells of the bladder. |
| Autonomic peripheral neuropathy | |
| Dry beriberi | |
| Nephronophthisis 9 | |
| Optic disk drusen | |
| Wet beriberi | |
| Lidocaine allergy | |
| Loeys-Dietz syndrome 3 | |
| Malignant pineal area germ cell neoplasm | |
| Bamforth-Lazarus syndrome | OMIM mapping confirmed by DO. [SN]. |
| X-linked severe congenital neutropenia | |
| Abdominal obesity-metabolic syndrome 3 | |
| Familial encephalopathy with neuroserpin inclusion bodies | A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern. |
| Ewing sarcoma of bone | |
| Spinocerebellar ataxia type 31 | |
| Salivary gland mucoepidermoid carcinoma | |
| Amyotrophic lateral sclerosis type 16 | |
| Bizarre leiomyoma | |
| Sjogren-Larsson syndrome | OMIM mapping confirmed by DO. [LS]. |
| Thyroid hormone resistance syndrome | OMIM mapping confirmed by DO. [LS]. |
| Charcot-Marie-Tooth disease type 1B | |
| Fanconi anemia complementation group D2 | |
| Congenital myopathy 1B | |
| Coffin-Siris syndrome 1 | |
| Hereditary spherocytosis type 5 | |
| Autosomal recessive nonsyndromic deafness 104 | |
| Autosomal recessive chronic granulomatous disease 4 | |
| Pulmonary systemic sclerosis | |
| Pseudosarcomatous fibromatosis | |
| Spinocerebellar ataxia type 10 | |
| Sacrum chordoma | |
| Armfield syndrome | |
| Chondroblastoma | A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells. It occurs primarily in the epiphyses of adolescents. It is relatively rare and represents less than 2% of all primary bone tumors. The peak incidence is in the second decade of life; it is about twice as common in males as in females. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1846)|A benign, lytic neoplasm usually arising from the cartilage in epiphysis and metaphysis of bone. It is a well circumscribed tumor characterized by the presence of chondroblasts, osteoclast-like giant cells, myxoid stroma formation, calcification, and mitotic activity. In aggressive cases, there is rearrangement of the 8q21 chromosome band. The tumor occurs most frequently in children and young adults. |
| myopathy, lactic acidosis, and sideroblastic anemia 2 | |
| Dystonia 28, childhood-onset | |
| Kleefstra syndrome 1 | |
| Autosomal recessive nonsyndromic deafness 76 | |
| Sotos syndrome 3 | |
| myopathy, lactic acidosis, and sideroblastic anemia | |
| Alpha thalassemia-X-linked intellectual disability syndrome | |
| Meier-Gorlin syndrome 1 | |
| Cartilage cancer | |
| D-2-hydroxyglutaric aciduria | An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. |
| Leiomyoma cutis | |
| Dermis tumor | |
| Syndromic X-linked intellectual disability Siderius type | |
| Autosomal dominant intellectual developmental disorder 22 | |
| Colon carcinoma in situ | |
| Intestine carcinoma in situ | |
| Epidemic pleurodynia | A viral infectious disease that results_in necrosis located_in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has_symptom severe chest pain, has_symptom fever, has_symptom malaise, has_symptom pleuritis, and has_symptom headache. |
| Candidal paronychia | |
| Silent myocardial infarction | |
| Chronic gonococcal salpingitis | |
| Immunodeficiency with hyper-IgM type 4 | |
| Hereditary spastic paraplegia 15 | |
| Noonan syndrome 11 | |
| Exudative vitreoretinopathy 5 | |
| Autosomal dominant nonsyndromic deafness 77 | |
| Actinobacillosis | A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinobacillus ureae, which is a commensal of the human respiratory tract. The pathogen causes meningitis, endocarditis, bacteremia, atrophic rhinitis, bronchitis, pneumonia, conjunctivitis, peritonitis, and otitis media. |
| Holoprosencephaly 7 | |
| Posterior fossa group B ependymoma | |
| Hereditary desmoid disease | |
| Floating-Harbor syndrome | Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay. |
| Choroid plexus cancer | A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain. |
| Cerebellar liponeurocytoma | |
| Emphysematous cholecystitis | Emphysematous cholecystitis is a bacterial infectious disease consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues. |
| Posterior fossa group A ependymoma | |
| Myxoid glioneuronal tumor | |
| Dressler's syndrome | A pericarditis characterized by inflammation, occurring after injury, located_in pericardium. |
| Papillary tumor of the pineal region | |
| Cerebellum cancer | |
| Developmental and epileptic encephalopathy 76 | |
| Sifrim-Hitz-Weiss syndrome | |
| Helsmoortel-Van Der Aa Syndrome | |
| Developmental and epileptic encephalopathy 27 | |
| small-cell carcinoma of the ovary of hypercalcemic type | |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | |
| Coffin-Siris syndrome 7 | |
| Chromosome 6q24-q25 deletion syndrome | |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | |
| Autosomal dominant intellectual developmental disorder 21 | |
| Ovarian small cell carcinoma | |
| Amyotrophic lateral sclerosis type 13 | |
| Currarino syndrome | |
| Benign familial infantile seizures 2 | |
| Spondylocostal dysostosis 5 | |
| Chromosome 16p11.2 duplication syndrome | |
| Acute contagious conjunctivitis | |
| Acromesomelic dysplasia, Maroteaux type | An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the located_in vertebral column and shortening of middle and distal segments in the located_in limb. |
| Spondylometaphyseal dysplasia with cone-rod dystrophy | |
| Feingold syndrome | Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures. |
| X-linked cleft palate with or without ankyloglossia | |
| Congenital dyserythropoietic anemia type III | |
| Hyperthyroxinemia | |
| Autosomal dominant nonsyndromic deafness 4B | |
| Placental site trophoblastic tumor | |
| Embryoma | A carcinosarcoma and embryonal cancer that is located_in embryonic tissue and results_in a mass of rapidly growing cells. |
| Bartter disease type 5 | |
| Epithelioid trophoblastic tumor | |
| Haemophilus meningitis | |
| Adenomatoid tumor | |
| Benign mesothelioma | A cell type benign neoplasm that has_material_basis in mesothelium. |
| Telangiectatic osteogenic sarcoma | |
| Anal spasm | |
| Inflammatory bowel disease 28 | |
| Polycystic kidney disease 3 | |
| Nonphotosensitive trichothiodystrophy | OMIM mapping confirmed by DO. [SN]. |
| Gum cancer | |
| Centronuclear myopathy 6 with fiber-type disproportion | |
| Arteriovenous malformations of the brain | |
| 3-methylglutaconic aciduria type 1 | |
| endocrine-cerebro-osteodysplasia syndrome | |
| Chromosome 18p deletion syndrome | |
| Liver sarcoma | A sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is located_in the liver. |
| Greig cephalopolysyndactyly syndrome | An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face. |
| Familial cold autoinflammatory syndrome 2 | |
| Familial cold autoinflammatory syndrome 4 | |
| Erysipeloid | A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Erysipelothrix rhusiopathiae, which is transmitted_by contact with infected animals. The infection has_symptom redness of skin, has_symptom tenderness of skin and has_symptom warmth of skin. |
| Epidermal appendage tumor | |
| Developmental and epileptic encephalopathy 5 | |
| Chromophil adenoma of the kidney | |
| Psoriasis 2 | |
| Selective IgE deficiency disease | |
| Inflammatory bowel disease 9 | |
| Fetal encasement syndrome | |
| Tietze's syndrome | |
| Intrahepatic gall duct cancer | |
| Nodular episcleritis | |
| Noonan syndrome 1 | |
| Familial cold autoinflammatory syndrome 3 | |
| Bile duct sarcoma | A sarcoma and malignant tumor of extrahepatic bile duct that is located_in the bile duct. |
| Congenital disorder of glycosylation type IIg | |
| Congenital disorder of glycosylation type IIl | |
| Autosomal recessive distal hereditary motor neuronopathy 3 | |
| Achondrogenesis type IA | An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine. |
| Alternating esotropia | |
| polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| Alzheimer's disease 15 | |
| Metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome | |
| Dandy-Walker syndrome | OMIM mapping confirmed by DO. [SN]. |
| Stereotypic movement disorder | A specific developmental disorder that is characterized by repeated, rhythmic, purposeless movements or activities such as head banging, nail biting, or body rocking. |
| Chronic atrial and intestinal dysrhythmia | |
| Ureterocele | OMIM mapping confirmed by DO. [LS]. |
| Alcoholic neuropathy | |
| Adrenocorticotropic hormone deficiency | A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol. |
| Charcot-Marie-Tooth disease recessive intermediate B | |
| Charcot-Marie-Tooth disease intermediate type | |
| Glycogen storage disease VI | A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation. |
| Glycogen storage disease IXd | |
| Glycogen storage disease IXb | |
| Essential fructosuria | |
| Glycogen storage disease VIII | |
| Brody myopathy | OMIM mapping confirmed by DO. [SN]. |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | |
| King Denborough syndrome | |
| Atrophic muscular disease | |
| Type 1 diabetes mellitus 4 | |
| Cylindrical spirals myopathy | |
| Familial partial lipodystrophy type 4 | |
| Nemaline myopathy 9 | |
| Congenital stationary night blindness 2A | |
| Congenital myopathy 4A | |
| Donohue syndrome | OMIM mapping confirmed by DO. [SN]. |
| Riboflavin deficiency | |
| Wiedemann-Rautenstrauch syndrome | |
| Joubert syndrome 17 | |
| Immunodeficiency 24 | |
| Progressive myoclonus epilepsy 6 | |
| Nuclear type mitochondrial complex I deficiency 20 | |
| Intermediate spinal muscular atrophy | OMIM mapping confirmed by DO. [SN]. |
| glycogen-rich carcinoma | |
| Alcoholic ketoacidosis | |
| Nemaline myopathy 11 | |
| Orofaciodigital syndrome IV | |
| Nemaline myopathy 10 | |
| astrocytoma, IDH-mutant, grade 3 | |
| Orofacial cleft 15 | |
| Hyperlipoproteinemia type III | |
| Liver lymphoma | |
| astrocytoma, IDH-mutant, grade 4 | |
| Primary autosomal recessive microcephaly 3 | |
| Peeling skin syndrome 4 | |
| Orofacial cleft 10 | |
| Hereditary spherocytosis type 2 | |
| Stomach carcinoma in situ | |
| Bestiality | |
| IDH-mutant anaplastic astrocytoma | |
| Orofacial cleft 5 | |
| Inflammatory bowel disease 8 | |
| Peeling skin syndrome 6 | |
| Orofacial cleft 11 | |
| Griscelli syndrome type 3 | |
| Prolactin producing pituitary tumor | |
| Pineocytoma | |
| Sheehan syndrome | |
| Fanconi anemia complementation group L | |
| Autosomal recessive limb-girdle muscular dystrophy type 2F | |
| Familial temporal lobe epilepsy 4 | |
| Liver inflammatory pseudotumor | |
| Stromme syndrome | |
| Hereditary Wilms' tumor | A nephroblastoma that results_in either bilateral disease or a family history of Wilms' tumour. |
| Primary autosomal recessive microcephaly 19 | |
| Anaplastic sarcoma of the kidney | |
| Harel-Yoon syndrome | |
| Tubulinopathy | |
| Autosomal dominant distal hereditary motor neuronopathy 14 | |
| Epidermolysis bullosa simplex Dowling-Meara type | |
| Myoepithelial carcinoma | A carcinoma that derives_from myoepithelial cells. |
| epithelial-myoepithelial carcinoma | |
| Apocrine carcinoma | |
| Apocrine sweat gland cancer | |
| Adamantinoma | A bone cancer that is located_in almost exclusively in the long bones. |
| Breast adenomyoepithelioma | A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells. |
| Breast myoepithelial neoplasm | |
| Microglandular adenosis | |
| Hidradenoma | |
| Benign breast adenomyoepithelioma | |
| Syringoma | |
| Sebaceous adenoma | |
| Pregnancy adenoma | |
| Esophageal basaloid squamous cell carcinoma | |
| Papillary hidradenoma | |
| Eccrine papillary adenoma | |
| Clear cell hidradenoma | |
| Breast oncocytic carcinoma | |
| Breast myoepithelial carcinoma | |
| Breast adenoma | |
| Osteogenesis imperfecta type 11 | |
| Large cell acanthoma | |
| Trachea carcinoma in situ | |
| Breast secretory carcinoma | |
| Thyroid Hurthle cell adenoma | |
| Ainhum | |
| Junctional epidermolysis bullosa non-Herlitz type | |
| Anal canal adenocarcinoma | An anal canal cancer that derives_from epithelial cells of glandular origin. |
| Breast squamous cell carcinoma | |
| Sweat gland carcinoma | |
| Breast papillary carcinoma | |
| Laryngeal mucoepidermoid carcinoma | |
| Autosomal recessive congenital ichthyosis 2 | |
| Epidermolysis bullosa simplex generalized type | |
| Ovarian papillary cystadenoma | |
| Apocrine adenoma | |
| Ceruminous adenocarcinoma | |
| Long bone adamantinoma | An adamantinoma that is located_in the long bones and results_in focal epithelial differentiation. |
| Trochlear nerve disease | |
| Ovarian papillary neoplasm | |
| Breast adenoid cystic carcinoma | |
| Primary localized cutaneous amyloidosis 3 | |
| Clear cell acanthoma | |
| Mal de Meleda | |
| Hereditary sensory and autonomic neuropathy type 6 | |
| BASAN syndrome | |
| Cloacogenic carcinoma | OMIM mapping confirmed by DO. [SN]. |
| Photosensitive trichothiodystrophy 1 | |
| Intracystic papillary adenoma | |
| Junctional epidermolysis bullosa Herlitz type | |
| Sublingual gland adenoid cystic carcinoma | |
| Gastric squamous cell carcinoma | |
| Muir-Torre syndrome | OMIM mapping confirmed by DO. [SN]. |
| Autosomal dominant keratosis follicularis spinulosa decalvans | |
| Tibial adamantinoma | An adamantinoma of long bone that is located_in the tibia. |
| Infundibulocystic basal cell carcinoma | Xref MGI. |
| Sublingual gland cancer | |
| Paget's disease of bone 2 | |
| Squamous cell bile duct carcinoma | |
| Malignant acrospiroma | |
| Polyp of corpus uteri | |
| Rete ovarii benign neoplasm | |
| Rete ovarii adenoma | |
| Extraskeletal myxoid chondrosarcoma | An extraosseous chondrosarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage and is characterized by a marked abundance of extracellular mucoid (myxoid) matrix. |
| Congenital epulis | |
| Jaw cancer | A bone cancer and jaw disease that is located_in the jaw and results_in a swollen jaw, results_in numbness or a tingling sensation in jaw, and results_in an abnormal growth of the jaw bone. |
| Cutaneous leiomyosarcoma | |
| Autosomal dominant dyskeratosis congenita 6 | |
| Pretibial dystrophic epidermolysis bullosa | |
| Atrichia with papular lesions | Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities. |
| Cystic basal cell carcinoma | |
| Transient bullous dermolysis of the newborn | Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. |
| Sarcomatoid squamous cell skin carcinoma | |
| Adenomyoma | A carcinosarcoma that has_material_basis_in gland and muscle components. |
| Ambras type hypertrichosis universalis congenita | |
| Papillary transitional carcinoma | A transitional cell carcinoma that has several papillary fronds with central fibrovascular core lined by transitional type epithelium. |
| Laryngeal small cell carcinoma | |
| Atypical polypoid adenomyoma | |
| Ehlers-Danlos syndrome spondylodysplastic type 3 | |
| Prostate carcinoma in situ | |
| Autosomal recessive limb-girdle muscular dystrophy type 2Q | |
| Autosomal recessive congenital ichthyosis 1 | |
| Lacrimal gland adenocarcinoma | A lacrimal gland carcinoma that derives_from epithelial cells of glandular origin. |
| milker's nodule | |
| Necrotizing sialometaplasia | |
| Salpingitis isthmica nodosa | |
| Intraneural perineurioma | |
| Benign peritoneal mesothelioma | |
| Follicular infundibulum tumor | |
| Synchronous bilateral breast carcinoma | |
| Adenoid basal cell carcinoma | |
| Breast cystic hypersecretory carcinoma | |
| Lacrimal gland carcinoma | |
| Focal or diffuse nonepidermolytic palmoplantar keratoderma | |
| Conjunctival intraepithelial neoplasm | |
| Nonsyndromic congenital nail disorder 1 | |
| Breast cyst | |
| Clear cell basal cell carcinoma | |
| Autosomal recessive congenital ichthyosis 4A | |
| Lacrimal system cancer | |
| Lacrimal gland cancer | |
| Breast mucoepidermoid carcinoma | |
| Pilar sheath acanthoma | |
| Facial hemiatrophy | OMIM mapping confirmed by DO. [SN]. |
| Hard palate cancer | |
| Miliaria crystallina | |
| Myringitis bullosa hemorrhagica | |
| Congenital myasthenic syndrome 19 | |
| Abruzzo-Erickson syndrome | |
| Endometrium carcinoma in situ | |
| Eyelid benign neoplasm | |
| Krukenberg carcinoma | |
| Vulva adenocarcinoma | A vulva carcinoma that derives_from epithelial cells of glandular origin. |
| Seminal vesicle adenocarcinoma | A male reproductive organ cancer that derives_from epithelial cells of glandular origin. |
| Vulval Paget's disease | |
| Anus adenocarcinoma | An anal carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin. |
| Morpheaform basal cell carcinoma | |
| Transverse colon cancer | |
| Urethral diverticulum | |
| Ovarian Brenner tumor | |
| Anal gland adenocarcinoma | An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal gland. |
| Ureteral benign neoplasm | |
| Mucinous ovarian cystadenoma | |
| Jejunal adenocarcinoma | |
| Eyelid carcinoma | |
| Ovarian seromucinous carcinoma | |
| Thymus adenocarcinoma | A thymic carcinoma that derives_from epithelial cells of glandular origin. |
| Descending colon cancer | |
| Middle ear adenoma | |
| Auditory system benign neoplasm | |
| Struma ovarii | |
| non-invasive bladder papillary urothelial neoplasm | |
| Endosalpingiosis | |
| Mucinous bronchioloalveolar adenocarcinoma | |
| Urethral villous adenoma | |
| Anal Paget's disease | |
| Sigmoid neoplasm | |
| Bladder sarcoma | A sarcoma and malignant neoplasm of urinary bladder that is located_in the bladder. |
| Nonmucinous bronchioloalveolar adenocarcinoma | |
| Eosinophilic variant of chromophobe renal cell carcinoma | |
| Peritoneal serous adenocarcinoma | |
| Mucinous cystadenofibroma | |
| Urinary bladder villous adenoma | |
| Ovarian mucinous cystadenocarcinoma | |
| Mucinous adenofibroma | |
| Prostatic acinar adenocarcinoma | |
| Ovary neuroendocrine neoplasm | |
| Urethral benign neoplasm | |
| Bartholin's gland carcinoma | A vulva carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in Bartholin's gland. |
| Anal canal Paget's disease | |
| Internal hemorrhoid | |
| Glomus tumor | A hemangiopericytic tumor that is a mesenchymal neoplasm composed of cells that closely resemble the modified smooth muscle cells of the normal glomus body. |
| Cervical mucinous adenocarcinoma | |
| Bartholin's gland cancer | |
| Intrahepatic bile duct adenoma | |
| Inverted transitional papilloma | |
| Bladder benign neoplasm | |
| Mucinous intrahepatic cholangiocarcinoma | |
| Endometrial mucinous adenocarcinoma | |
| Biliary papillomatosis | A biliary tract neoplasm characterized by multiple papillary tumors in the intrahepatic and/or extrahepatic biliary tree. |
| Male urethral cancer | |
| Perianal skin Paget's disease | |
| Pulmonary sclerosing hemangioma | |
| Rectosigmoid junction neoplasm | |
| Seminal vesicle tumor | |
| Breast tubular carcinoma | |
| Epithelioid malignant peripheral nerve sheath tumor | |
| Bartholin's gland adenocarcinoma | |
| Female urethral cancer | |
| Ethmoid sinus adenocarcinoma | An ethmoid sinus cancer that derives_from epithelial cells of glandular origin. |
| Bile duct mucinous adenocarcinoma | |
| Parachordoma | |
| Pancreatic foamy gland adenocarcinoma | |
| Anal margin carcinoma | An anal carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anal margin (where the canal meets the outside skin at the anus). |
| Bile duct mucoepidermoid carcinoma | |
| Lung clear cell carcinoma | |
| Ovarian Wilms' cancer | |
| Aortic malignant tumor | |
| Granular cell tumor | |
| Bile duct signet ring cell carcinoma | |
| Anal margin basal cell carcinoma | |
| Breast signet ring cell adenocarcinoma | |
| Mucinous tubular and spindle renal cell carcinoma | |
| Endometrial transitional cell carcinoma | |
| Anus basaloid carcinoma | |
| Lung oat cell carcinoma | |
| Malignant biphasic mesothelioma | |
| Pancoast tumor | |
| Nephrogenic adenoma of urinary bladder | |
| Vulvar sebaceous carcinoma | |
| Vulvar apocrine adenocarcinoma | |
| Ovarian mucinous adenofibroma | |
| Ovarian mucinous cystadenofibroma | |
| Mediastinum sarcoma | |
| Papillary ependymoma | |
| Bilateral hypoactive labyrinth | |
| Ethmoid sinus cancer | |
| Inverted follicular keratosis | |
| Teratoma with somatic-type malignancy | |
| Wolffian duct adenoma | |
| Ureter squamous cell carcinoma | |
| Ovarian large-cell neuroendocrine carcinoma | |
| Fallopian tube carcinosarcoma | |
| Ovarian primitive germ cell tumor | |
| Pericardium cancer | |
| Lung adenoid cystic carcinoma | |
| Appendix carcinoid tumor | |
| Pericardial mesothelioma | |
| Intratubular embryonal carcinoma | An embryonal testis carcinoma that is located within a tubule. |
| Nasal cavity adenocarcinoma | A nasal cavity carcinoma that derives_from epithelial cells of glandular origin. |
| Sarcomatoid renal cell carcinoma | |
| Sarcomatous intrahepatic cholangiocarcinoma | |
| Invasive bladder transitional cell carcinoma | |
| Ovary serous adenocarcinoma | An ovary adenocarcinoma that derives_from the lining of a cavity that produces a serum-like fluid (a serous cavity). |
| Monophasic synovial sarcoma | |
| Sarcomatoid basal cell carcinoma | |
| Adenosquamous gallbladder carcinoma | A gallbladder carcinoma that derives_from squamous cells and gland-like cells. |
| Large intestine adenocarcinoma | |
| Endometrial squamous cell carcinoma | |
| Biphasic synovial sarcoma | |
| Pancreatic serous cystadenocarcinoma | |
| Bladder signet ring cell adenocarcinoma | |
| Ileum cancer | A small intestine cancer that is located_in the ileum. |
| Lacrimal gland mucoepidermoid carcinoma | |
| Barre-Lieou syndrome | |
| Cervix small cell carcinoma | |
| Kidney rhabdoid cancer | A embryonal cancer that is located in the kidney. |
| Myxoid chondrosarcoma | |
| Choriocarcinoma of the testis | |
| Primary ciliary dyskinesia 2 | |
| Botryoid rhabdomyosarcoma | |
| Prostate neuroendocrine neoplasm | |
| Epithelioid cell synovial sarcoma | |
| Aggressive digital papillary adenocarcinoma | |
| Gallbladder signet ring cell adenocarcinoma | |
| Cutaneous ganglioneuroma | |
| Urinary bladder small cell neuroendocrine carcinoma | |
| Prostate transitional cell carcinoma | |
| Mixed ductal-endocrine carcinoma | |
| Ovarian cystic teratoma | |
| Atrophic vulva | |
| Follicular basal cell carcinoma | |
| Cervical endometrial stromal sarcoma | |
| Cervix endometrial stromal tumor | |
| Wolffian duct adenocarcinoma | |
| Cervical carcinosarcoma | |
| Breast mucinous cystadenocarcinoma | |
| Labyrinthine dysfunction | |
| Medullary colon carcinoma | |
| Xanthogranulomatous pyelonephritis | |
| Atypical choroid plexus papilloma | |
| Middle ear cancer | An auditory system cancer that is located_in the middle ear. |
| Prostatic urethral cancer | |
| Mature teratoma of the ovary | |
| Ovarian biphasic or triphasic teratoma | |
| Extraosseous osteosarcoma | |
| Lung leiomyosarcoma | A leiomyosarcoma and sarcoma of lung that is located_in the lung. |
| Breast hemangiopericytoma | |
| Vulvar dystrophy | |
| Dermoid cyst of ovary | OMIM mapping confirmed by DO. [SN]. |
| Vulvar sarcoma | |
| Nerve root neoplasm | |
| Renal pelvis benign neoplasm | |
| Ear cancer | |
| Auditory system cancer | An organ system cancer located_in the ear and characterized by uncontrolled cellular proliferation of the auditory organs. |
| Pancreatic cystadenocarcinoma | |
| Submandibular gland cancer | |
| Superior mesenteric artery syndrome | |
| EWSR1-negative small round cell tumor | |
| CIC-rearranged sarcoma | |
| Pulmonary artery leiomyosarcoma | |
| Ovarian angiosarcoma | |
| Secretory meningioma | |
| Middle ear adenocarcinoma | |
| Benign essential hypertension | |
| Ovarian germ cell monodermal and highly specialized teratoma | |
| Malignant struma ovarii | |
| Rhabdoid meningioma | |
| Schneiderian carcinoma | |
| Bladder small cell carcinoma | |
| Pulmonary large cell neuroendocrine carcinoma | |
| Paranasal sinus sarcoma | |
| Ureter adenocarcinoma | An ureter carcinoma that derives_from epithelial cells of glandular origin. |
| Seminal vesicle cystadenoma | |
| Extraosseous Ewing sarcoma | |
| Gastric teratoma | |
| Urethral syndrome | |
| Malignant epithelial mesothelioma | |
| Microinvasive cervical squamous cell carcinoma | |
| Thyroid angiosarcoma | A thyroid sarcoma and angiosarcoma that results_in a high prevalence of iodine-deficient goiter. |
| Acinar cell cystadenocarcinoma | |
| Gallbladder squamous cell carcinoma | |
| Nasal cavity olfactory neuroblastoma | |
| Signet ring basal cell carcinoma | |
| Bronchial benign neoplasm | |
| Cutaneous mucoepidermoid carcinoma | |
| Epididymis cancer | |
| Bartholin's gland adenoid cystic carcinoma | |
| Gallbladder leiomyosarcoma | |
| Adenosquamous colon carcinoma | |
| Ectomesenchymoma | |
| Askin's tumor | |
| Vulva basal cell carcinoma | |
| Nephrogenic adenoma of the urethra | |
| Retroperitoneum carcinoma | |
| Malignant granular cell myoblastoma | |
| Gangliocytoma | |
| Mixed hepatoblastoma | |
| Central nervous system mesenchymal non-meningothelial tumor | |
| Cauda equina neuroendocrine tumor | |
| Perianal hematoma | |
| Trigeminal nerve neoplasm | |
| Neurilemmoma of the fifth cranial nerve | |
| Colon neuroendocrine neoplasm | |
| Cauda equina neoplasm | |
| Tanycytic ependymoma | |
| Angiomatous meningioma | |
| Colon squamous cell carcinoma | |
| Nodular prostate | |
| Penile benign neoplasm | |
| Central nervous system sarcoma | |
| Pelvic lipomatosis | |
| Perineurioma | |
| Smarca4-deficient sarcoma of thorax | |
| Renal pelvis adenocarcinoma | A renal pelvis carcinoma that derives_from epithelial cells of glandular origin. |
| Splenic artery aneurysm | |
| Cervix endometriosis | |
| Ampulla of Vater benign neoplasm | |
| Middle ear carcinoma | A middle ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| Vaginal yolk sac tumor | |
| Prostate adenoid cystic carcinoma | |
| Nephrogenic adenofibroma | |
| Encapsulated thymoma | |
| Prostate signet ring cell adenocarcinoma | |
| Cronkhite-Canada syndrome | |
| Detrusor sphincter dyssynergia | |
| Peroneal neuropathy | |
| Subserous uterine fibroid | |
| Granular cell leiomyosarcoma | |
| Vulvar proximal-type epithelioid sarcoma | |
| Central epithelioid sarcoma | |
| Duodenal benign neoplasm | |
| Colonic lymphangioma | |
| Microcystic meningioma | |
| Clear cell adenofibroma | |
| Central nervous system teratoma | |
| Scrotal carcinoma | |
| Malignant ovarian Brenner tumor | |
| Retinal melanoma | |
| Anal canal squamous cell carcinoma | An anal canal cancer that derives_from epithelial squamous cells. |
| Large cell carcinoma with rhabdoid phenotype | |
| Giant cell reparative granuloma | |
| Transitional meningioma | |
| Spinal ependymoma, MYCN-amplified | |
| Epididymal neoplasm | |
| Ovarian endometrioid adenofibroma | |
| External ear squamous cell carcinoma | |
| Cataract 32 multiple types | |
| Schwannoma of twelfth cranial nerve | |
| Hypoglossal nerve disease | |
| Gestational ovarian choriocarcinoma | |
| Paralytic squint | |
| Lung pleomorphic carcinoma | |
| Myxoid leiomyosarcoma | |
| External ear carcinoma | An external ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| Kidney angiomyolipoma | |
| Bladder lateral wall cancer | |
| Alveoli adenoma | |
| Mediastinum liposarcoma | |
| Exudative vitreoretinopathy 6 | |
| Bardet-Biedl syndrome 21 | |
| Retinitis pigmentosa 72 | |
| Retinitis pigmentosa 46 | |
| Retinitis pigmentosa 71 | |
| Retinitis pigmentosa 84 | |
| Bardet-Biedl syndrome 20 | |
| Retinitis pigmentosa 85 | |
| Retinitis pigmentosa 69 | |
| cone-rod dystrophy 12 | |
| Retinitis pigmentosa 66 | |
| Developmental delay and seizures with or without movement abnormalities | |
| Retinitis pigmentosa 88 | |
| short-rib thoracic dysplasia 10 with or without polydactyly | |
| Retinitis pigmentosa 56 | |
| Bothnia retinal dystrophy | OMIM mapping confirmed by DO. [SN]. |
| cone-rod dystrophy 16 | |
| Retinitis pigmentosa 89 | |
| Retinitis pigmentosa 54 | |
| Retinitis pigmentosa 28 | |
| Brachydactyly type A2 | |
| Middle cerebral artery infarction | |
| Combined oxidative phosphorylation deficiency 54 | |
| Optic atrophy 2 | |
| Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | |
| HMG-CoA synthase 2 deficiency | |
| stress-induced childhood-onset neurodegeneration with variable ataxia and seizures | |
| Combined oxidative phosphorylation deficiency 30 | |
| Anauxetic dysplasia 2 | |
| Hereditary spastic paraplegia 55 | |
| blepharophimosis-impaired intellectual development syndrome | |
| Charcot-Marie-Tooth disease type 6 | |
| Transient infantile liver failure | |
| Combined oxidative phosphorylation deficiency 10 | |
| Autosomal recessive nonsyndromic deafness 94 | |
| Combined oxidative phosphorylation deficiency 24 | |
| Hereditary spastic paraplegia 9A | |
| Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | |
| Mitochondrial DNA depletion syndrome 4b | |
| Glycogen storage disease Ib | |
| Autosomal dominant hypophosphatemic rickets | Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia. |
| Developmental and epileptic encephalopathy 47 | |
| Spinocerebellar ataxia type 27 | |
| Duane-radial ray syndrome | |
| Carney-Stratakis syndrome | |
| Female stress incontinence | |
| Acquired hemangioma | |
| Neurogenic arthropathy | |
| Malignant fibrous histiocytoma of bone | |
| Myositis ossificans | A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles. |
| Severe nonproliferative diabetic retinopathy | |
| Pseudopterygium | |
| Hemangioma of lung | |
| Lacrimoauriculodentodigital syndrome 1 | |
| Intellectual developmental disorder with short stature and behavioral abnormalities | |
| Culler-Jones syndrome | |
| Schopf-Schulz-Passarge syndrome | |
| Cerebellar vermis medulloblastoma | |
| Periodontosis | |
| Dystrophies primarily involving the retinal pigment epithelium | |
| Hereditary spastic paraplegia 23 | |
| Pulp degeneration | |
| Postinflammatory pulmonary fibrosis | |
| Angiolipoma | A lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma. |
| Optic nerve glioma | |
| Osteoblastoma | |
| Spondylocostal dysostosis 4 | |
| Gorham's disease | A syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones. |
| Optic nerve neoplasm | |
| Marginal corneal ulcer | |
| Prostatic cyst | |
| Conjunctival vascular disease | |
| Allergic cutaneous vasculitis | |
| camptodactyly-tall stature-scoliosis-hearing loss syndrome | |
| Blount's disease | An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally. |
| Central precocious puberty | Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys). |
| Laurin-Sandrow syndrome | |
| Congenital muscular dystrophy-dystroglycanopathy type A11 | |
| Cataract 13 with adult i phenotype | |
| Diamond-Blackfan anemia 11 | |
| Combined oxidative phosphorylation deficiency 31 | |
| Optic atrophy 12 | |
| Combined oxidative phosphorylation deficiency 29 | |
| Combined oxidative phosphorylation deficiency 34 | |
| Combined oxidative phosphorylation deficiency 49 | |
| Combined oxidative phosphorylation deficiency 43 | |
| Spinocerebellar ataxia type 28 | |
| Spondylometaphyseal dysplasia Megarbane-Dagher-Melike type | |
| Myopathy with extrapyramidal signs | |
| Cataract 38 | |
| Immunodeficiency 44 | |
| Charcot-Marie-Tooth disease type 2A2B | |
| Spastic ataxia 5 | |
| 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia | |
| Autosomal recessive spinocerebellar ataxia 30 | |
| Charcot-Marie-Tooth disease X-linked dominant 6 | |
| Combined oxidative phosphorylation deficiency 19 | |
| Charcot-Marie-Tooth disease type 2A2A | |
| Autosomal dominant severe congenital neutropenia | |
| Charcot-Marie-Tooth disease type 4A | Charcot-Marie-Tooth disease, type 4A (CMT4A) is a severe, early-onset form of demyelinating CMT peripheral sensorimotor polyneuropathy characterized by severe motor retardation and progressive scoliosis. |
| Developmental and epileptic encephalopathy 98 | |
| Midface dysplasia | |
| Alzheimer's disease 18 | |
| Charcot-Marie-Tooth disease type 2DD | |
| immunodeficiency-centromeric instability-facial anomalies syndrome 1 | |
| Familial hemiplegic migraine 2 | |
| Acrocallosal syndrome | A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation. |
| Streptococcal meningitis | |
| Primary coenzyme Q10 deficiency 8 | |
| Thrombophilia due to activated protein C resistance | |
| Gastric fundus carcinoma | |
| Skin lipoma | |
| Nephrotic syndrome type 19 | |
| Epithelioid inflammatory myofibroblastic sarcoma | |
| Retinal arterial tortuosity | |
| Gastric fundus cancer | |
| alpha-2-plasmin inhibitor deficiency | |
| Mucolipidosis III gamma | |
| Purulent labyrinthitis | A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma. |
| Patellofemoral pain syndrome | |
| Chromosome 22q11.2 deletion syndrome, distal | |
| Inflammatory leiomyosarcoma | |
| Hereditary sensory and autonomic neuropathy type 5 | |
| Epithelioid neurofibroma | |
| Congenital granular cell tumor | |
| Autosomal dominant Robinow syndrome 3 | |
| Plexiform schwannoma | |
| X-linked intellectual developmental disorder 108 | |
| Large cell medulloblastoma | A medulloblastoma that is characterized by cells that are larger than would be normally expected. |
| Autosomal dominant nonsyndromic deafness 44 | |
| Atypical neurofibroma | |
| Charcot-Marie-Tooth disease dominant intermediate B | |
| Subglottis benign neoplasm | |
| Breast duct papilloma | |
| Intraductal papillary breast neoplasm | |
| Charcot-Marie-Tooth disease X-linked dominant 1 | |
| Low compliance bladder | |
| Charcot-Marie-Tooth disease type 2D | |
| Otosalpingitis | |
| Reticulohistiocytic granuloma | |
| Cellular schwannoma | A neurilemmoma with a predominantly cellular growth but no Verocay bodies. |
| Charcot-Marie-Tooth disease type 2A1 | |
| Chiasmal syndrome | |
| Familial episodic pain syndrome 1 | |
| Familial hyperinsulinemic hypoglycemia 3 | |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | |
| Joubert syndrome 31 | |
| Ulnar nerve lesion | |
| Microlissencephaly | |
| Acquired night blindness | |
| Brugada syndrome 9 | |
| Agenesis of the corpus callosum with peripheral neuropathy | |
| mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | |
| Villous adenocarcinoma | An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, with villous architecture. |
| Hereditary sensory and autonomic neuropathy type 1C | |
| Age related macular degeneration 2 | |
| Coffin-Siris syndrome 8 | |
| Otopalatodigital syndrome type 1 | Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies. |
| Combat disorder | An acute stress disorder that involves neurotic reactions to unusual, severe, or overwhelming military stress. |
| Factor XIII deficiency | OMIM mapping confirmed by DO. [SN]. |
| Alcoholic gastritis | |
| Avoidant personality disorder | A personality disorder that is characterized by a pervasive pattern of social inhibition, feelings of inadequacy, extreme sensitivity to negative evaluation, and avoidance of social interaction. |
| Facial neuralgia | |
| Thoracic outlet syndrome | A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles. |
| Autosomal recessive nonsyndromic deafness 44 | |
| Heel spur | An exostosis that results_in an abnormal growth located_in calcaneus. |
| Newfoundland cone-rod dystrophy | |
| Congenital myasthenic syndrome 12 | |
| Asphyxiating thoracic dystrophy 1 | |
| Kanzaki disease | |
| Taylor's syndrome | |
| Glossopharyngeal neuralgia | |
| Optic nerve sheath meningioma | |
| Malignant mesenchymoma | |
| Selective pituitary thyroid hormone resistance | |
| Schindler disease | |
| Mesenchymoma | |
| Primary biliary cholangitis 4 | |
| Meckel syndrome 2 | |
| Meckel syndrome 3 | |
| Brain compression | |
| Familial erythrocytosis 8 | |
| Familial erythrocytosis 5 | |
| Noonan syndrome with multiple lentigines 1 | |
| Familial erythrocytosis 3 | |
| Familial erythrocytosis 4 | |
| Familial erythrocytosis 1 | |
| Malignant triton tumor | |
| Delusional disorder | A psychotic disorder that involves an uncommon psychiatric condition in which patients present with circumscribed symptoms of non-bizarre delusions, but with the absence of prominent hallucinations and no thought disorder, mood disorder, or significant flattening effect. |
| Exhibitionism | |
| Schizotypal personality disorder | A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs. |
| Nonphotosensitive trichothiodystrophy 5 | |
| Psychosexual disorder | |
| Schizophrenia 9 | |
| Narcissistic personality disorder | A personality disorder that involves an excessive preoccupation with issues of personal adequacy, power, prestige and vanity. |
| Paranoid personality disorder | A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others. |
| Partial fetal alcohol syndrome | A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure. |
| Diffuse large B-cell lymphoma activated B-cell type | |
| Hypogonadotropic hypogonadism 23 with or without anosmia | |
| Chromosome 1q21.1 duplication syndrome | |
| Familial hemiplegic migraine 3 | |
| Acromesomelic dysplasia, Hunter-Thompson type | An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot. |
| Anismus | |
| Thrombophilia due to thrombin defect | |
| Phencyclidine abuse | A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences. |
| Duodenal somatostatinoma | |
| Pancreatic somatostatinoma | |
| Enterokinase deficiency | |
| Acute hemorrhagic pancreatitis | |
| Gastric gastrinoma | |
| Common bile duct neoplasm | |
| Gastrointestinal neuroendocrine benign tumor | |
| Gastric neuroendocrine neoplasm | |
| Dipsogenic diabetes insipidus | |
| Postcholecystectomy syndrome | |
| Glucocorticoid deficiency 1 | |
| Chronic intestinal vascular insufficiency | |
| Ectopic Cushing syndrome | |
| Leukocyte adhesion deficiency 2 | |
| Cerebral meningioma | |
| Adult pleomorphic rhabdomyosarcoma | |
| Esophageal neuroendocrine tumor | |
| Brain meningioma | |
| Dieulafoy lesion | |
| Immunodeficiency 29 | |
| Type 1 diabetes mellitus 21 | |
| Immunodeficiency 30 | |
| Persistent severe asthma | |
| Aneruptive fever | |
| N1 diffuse large B-cell lymphoma | |
| Bejel | |
| Atopic dermatitis 5 | |
| MCD diffuse large B-cell lymphoma | |
| asthma, nasal polyps, and aspirin intolerance | |
| Gastrointestinal tularemia | |
| Inflammatory bowel disease 24 | |
| Hepatic venoocclusive disease with immunodeficiency | |
| Immunodeficiency 27B | |
| Combined oxidative phosphorylation deficiency 9 | |
| GM1 gangliosidosis type 3 | |
| Combined oxidative phosphorylation deficiency 7 | |
| Neurodegeneration with brain iron accumulation 2b | |
| Pontocerebellar hypoplasia type 1 | Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death. |
| Trimethylaminuria | Increased concentration of trimethylamine in the urine. |
| Bullous retinoschisis | |
| Cortical senile cataract | |
| Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype | |
| Partial optic atrophy | |
| infant-type hemispheric glioma | |
| Supratentorial primitive neuroectodermal tumor | |
| Autosomal recessive spinocerebellar ataxia 19 | |
| Pharynx squamous cell carcinoma | |
| Osgood-Schlatter's disease | A bone inflammation disease that involves rupture of the growth plate in children located_in tibia. |
| Juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome | |
| Breast ductal adenoma | |
| Hemangioma of spleen | |
| Potter's syndrome | An oligohydramnios desribing the typical physical appearances of a fetus or neonate due to oligohydramnios experienced in the womb where there is a decrease in amniotic fluid volume sufficient to cause disruptions in morphogenesis of the fetus. |
| Peroneal nerve paralysis | |
| Charcot-Marie-Tooth disease axonal type 2Z | |
| Generalized epilepsy with febrile seizures plus 6 | |
| Autosomal recessive centronuclear myopathy | |
| Congenital afibrinogenemia | OMIM mapping confirmed by DO. [SN]. |
| Factor XII deficiency | OMIM mapping confirmed by DO. [SN]. |
| Antithrombin III deficiency | An inherited blood coagulation disease characterized by the tendency to form clots in the veins. |
| Quebec platelet disorder | Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds. |
| Qualitative platelet defect | |
| Diamond-Blackfan anemia 4 | |
| Byssinosis | |
| Physiological polycythemia | |
| 3MC syndrome | A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes. |
| Prothrombin deficiency | OMIM mapping confirmed by DO. [SN]. |
| Lateral sinus thrombosis | |
| Acquired von Willebrand syndrome | |
| Intestinal botulism | A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) in adults, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. |
| Vitreoretinal dystrophy | |
| Retinitis pigmentosa-deafness syndrome | |
| Dilated cardiomyopathy 1DD | |
| Alzheimer's disease 13 | |
| Intracranial vasospasm | |
| Leech infestation | |
| Balantidiasis | A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath. |
| Dependent personality disorder | A personality disorder that is characterized by a pervasive psychological dependence on other people. |
| Prostate calculus | |
| Cornelia de Lange syndrome 3 | |
| High pressure neurological syndrome | |
| Cerebellar ataxia type 47 | |
| Pontocerebellar hypoplasia type 1B | NT MGI. |
| Schizoid personality disorder | A personality disorder that is characterized by a lack of interest in social relationships, a tendency towards a solitary lifestyle, secretiveness, emotional coldness and sometimes sexual apathy, with a simultaneous rich, elaborate and exclusively internal fantasy world. |
| Ulnar neuropathy | |
| Retinitis pigmentosa 62 | |
| Diphthamide deficiency syndrome 1 | |
| syndactyly-telecanthus-anogenital and renal malformations syndrome | |
| Diphthamide deficiency syndrome | |
| Temtamy syndrome | Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. |
| Spinocerebellar ataxia type 14 | Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus. |
| X-linked lissencephaly 1 | |
| Developmental and epileptic encephalopathy 54 | |
| Primary autosomal recessive microcephaly 10 | |
| Cerebellar atrophy, visual impairment, and psychomotor retardation | |
| high-grade astrocytoma with piloid features | |
| Hypoactive sexual desire disorder | |
| Multiple mitochondrial dysfunctions syndrome 3 | |
| nephronophthisis-like nephropathy 1 | |
| Nephronophthisis 11 | |
| Multiple mitochondrial dysfunctions syndrome 2 | |
| Hereditary spastic paraplegia 44 | |
| Multiple benign circumferential skin creases on limbs | |
| Epidural spinal canal neoplasm | |
| Congenital disorder of glycosylation type IIb | |
| Mitochondrial DNA depletion syndrome 13 | |
| Retinitis pigmentosa 73 | |
| Autosomal recessive osteopetrosis 1 | |
| Hereditary sensory and autonomic neuropathy type 2B | |
| Cerebellar ataxia type 43 | |
| Torsion dystonia 1 | |
| Oculocutaneous albinism type IV | |
| Autosomal dominant nonsyndromic deafness 68 | |
| Autosomal recessive nonsyndromic deafness 37 | |
| Ischemic neuropathy | |
| Diaphyseal medullary stenosis with malignant fibrous histiocytoma | |
| Uterine inflammatory disease | |
| Mixed malaria | A malaria that involves infection with more than one species of Plasmodium at the same time. |
| Autosomal dominant Emery-Dreifuss muscular dystrophy 4 | |
| Osteogenesis imperfecta type 14 | |
| Primary intracranial sarcoma, DICER1-mutant | |
| X-linked Emery-Dreifuss muscular dystrophy 6 | |
| Brain sarcoma | |
| Autosomal dominant Emery-Dreifuss muscular dystrophy 5 | |
| Autosomal recessive Emery-Dreifuss muscular dystrophy 3 | |
| Sarcosinemia | |
| Congenital myasthenic syndrome 22 | |
| Plica syndrome | |
| Kohler's disease | |
| non-functioning pancreatic endocrine tumor | |
| Lipoatrophic diabetes mellitus | |
| RNASET2-deficient cystic leukoencephalopathy | |
| Froelich syndrome | |
| Verrucous papilloma | |
| Spermatogenic failure 8 | |
| Autosomal recessive osteopetrosis 4 | |
| Axial osteomalacia | An osteosclerosis that results_in coarsening located_in trabecular bone. |
| Fibrogenesis imperfecta ossium | A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures. |
| Autosomal recessive osteopetrosis 8 | |
| Osteosclerotic metaphyseal dysplasia | |
| Acrocardiofacial syndrome | |
| Autosomal dominant osteopetrosis 1 | |
| Autosomal recessive osteopetrosis 7 | |
| Spondylometaphyseal dysplasia Kozlowski type | |
| Adult hypophosphatasia | |
| Osteogenesis imperfecta type 6 | |
| Poikiloderma with neutropenia | |
| Charcot-Marie-Tooth disease axonal type 2C | |
| contractures, pterygia, and spondylocarpotarsal fusion syndrome | |
| Chromosome 3q13.31 deletion syndrome | |
| cone-rod dystrophy 9 | |
| Pigmented paravenous chorioretinal atrophy | Bilaterally symmetrical chorioretinal atrophy, with accumulation of bone corpuscle pigmentation along the retinal veins. |
| North Carolina macular dystrophy | |
| Mulibrey nanism | OMIM mapping confirmed by DO. [SN]. |
| Nephrotic syndrome type 14 | |
| Catel Manzke syndrome | |
| Brown-Vialetto-Van Laere syndrome 2 | |
| Peroxisome biogenesis disorder 2A | |
| Combined oxidative phosphorylation deficiency 20 | |
| Spinocerebellar ataxia type 15 | |
| Meckel syndrome 4 | |
| Congenital myasthenic syndrome 8 | |
| Ehlers-Danlos syndrome kyphoscoliotic type 1 | |
| Ehlers-Danlos syndrome kyphoscoliotic type 2 | |
| Ehlers-Danlos syndrome classic type 1 | |
| Osteogenesis imperfecta type 2 | |
| Osteogenesis imperfecta type 9 | |
| Osteogenesis imperfecta type 10 | |
| Transvestism | |
| Multiple epiphyseal dysplasia 3 | |
| Aortic valve disease 1 | |
| Multiple epiphyseal dysplasia due to collagen 9 anomaly | |
| Benign familial infantile seizures 5 | |
| Spondyloepimetaphyseal dysplasia, Sponastrime type | A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance. |
| Fetishism | |
| Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | |
| Childhood hypophosphatasia | |
| Hajdu-Cheney syndrome | OMIM mapping confirmed by DO. [SN]. |
| Methemoglobinemia and ambiguous genitalia | |
| Pontocerebellar hypoplasia type 3 | NT MGI. |
| Osteogenesis imperfecta type 3 | Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term). |
| Vitamin D-dependent rickets type 1B | |
| Retroperitoneal neuroblastoma | |
| Combined deficiency of vitamin K-dependent clotting factors 2 | |
| MEND syndrome | |
| Dilated cardiomyopathy 1GG | |
| Apical myocardial infarction | |
| Mitochondrial pyruvate carrier deficiency | |
| Hypoinsulinemic hypoglycemia with hemihypertrophy | |
| Centronuclear myopathy 4 | |
| Mitochondrial DNA depletion syndrome 5 | |
| Chromosome Xp21 deletion syndrome | |
| Cerebral falx meningioma | |
| Pentosuria | Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day. |
| Peroxisomal acyl-CoA oxidase deficiency | A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy. |
| X-linked cone-rod dystrophy 3 | |
| Placenta praevia | A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix. |
| Fanconi anemia complementation group B | |
| Subvalvular aortic stenosis | |
| Bilateral perisylvian polymicrogyria | |
| Immunodeficiency 31B | |
| Hereditary nonpolyposis colorectal cancer type 2 | |
| childhood-onset neurodegeneration with brain atrophy | |
| Diamond-Blackfan anemia 2 | |
| Acrofacial dysostosis Cincinnati type | |
| Diamond-Blackfan anemia 1 | |
| Chromosome 2p16.1-p15 deletion syndrome | |
| Ataxia with oculomotor apraxia type 1 | |
| Congenital generalized lipodystrophy | OMIM mapping confirmed by DO. [SN]. |
| Episodic ataxia type 3 | Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia (see this term) characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia. |
| Diffuse cystic renal dysplasia | |
| Episodic ataxia type 4 | |
| Episodic ataxia type 7 | Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia (see this term) characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings. |
| Familial temporal lobe epilepsy 6 | |
| COACH syndrome | |
| Nephrotic syndrome type 5 | |
| Episodic ataxia type 5 | Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia (see this term) characterized by recurrent episodes of vertigo and ataxia lasting several hours. |
| Nephrotic syndrome type 2 | |
| Inhibited female orgasm | |
| Factitious disorder | A disease of mental health where symptoms are deliberately produced, feigned or exaggerated in order to falsely demonstrate the presence of an illness. |
| Hypothalamic disease | |
| Viral labyrinthitis | |
| Renal hypomagnesemia 3 | |
| Mesenteric vascular occlusion | |
| Isolated mitochondrial myopathy | |
| Delta beta-thalassemia | |
| Primary ciliary dyskinesia 6 | |
| Primary ciliary dyskinesia 9 | |
| Joubert syndrome 25 | |
| Alzheimer's disease 8 | |
| Joubert syndrome 10 | |
| Autosomal dominant distal hereditary motor neuronopathy 5 | |
| Hypophosphatemic nephrolithiasis/osteoporosis 2 | |
| Familial hypobetalipoproteinemia 1 | |
| Barber-Say syndrome | |
| Ablepharon macrostomia syndrome | |
| Coffin-Siris syndrome 9 | |
| Hemoglobin E disease | |
| Hemoglobin D disease | |
| Heinz body anemia | Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells. |
| Hemoglobin C disease | |
| Congenital nonspherocytic hemolytic anemia | |
| Pyruvate kinase deficiency of red cells | |
| Osteogenesis imperfecta type 17 | |
| Congenital limbs-face contractures-hypotonia-developmental delay syndrome | |
| Endocervicitis | |
| Premenstrual tension | |
| Otosclerosis 4 | |
| Otosclerosis 10 | |
| Otosclerosis 8 | |
| Otosclerosis 5 | |
| Kahrizi syndrome | An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene. |
| Otosclerosis 7 | |
| Endometrial adenosquamous carcinoma | An endometrial carcinoma that derives_from squamous cells and gland-like cells. |
| Warburg micro syndrome 3 | |
| Siddiqi syndrome | |
| Complex cortical dysplasia with other brain malformations | |
| Hypomyelinating leukoencephalopathy | |
| Inflammatory bowel disease 11 | |
| Epidermolysis bullosa simplex with muscular dystrophy | |
| Vitamin D-dependent rickets type 2A | |
| Nonsyndromic congenital nail disorder 8 | |
| Adult pineal parenchymal tumor | |
| Adult pineoblastoma | |
| Nephrotic syndrome type 3 | |
| Charcot-Marie-Tooth disease dominant intermediate D | |
| Zika virus congenital syndrome | |
| Soft tissue chondroma | |
| Clear cell chondrosarcoma | |
| Inflammatory bowel disease 5 | |
| Psoriasis 3 | |
| non-suppurative otitis media | A otitis media which involves transudation of fluid in the middle ear without pus formation. |
| Inflammatory bowel disease 17 | |
| Congenital generalized lipodystrophy type 3 | |
| Type 1 diabetes mellitus 5 | |
| Bardet-Biedl syndrome 10 | |
| Hyperalphalipoproteinemia 1 | |
| Norum disease | OMIM mapping confirmed by DO. [SN]. |
| Primary hypoalphalipoproteinemia 2 | |
| Apolipoprotein C-III deficiency | |
| Familial partial lipodystrophy type 5 | |
| Fasciolopsiasis | A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Fasciolopsis buski. The symptoms include diarrhea, abdominal pain, fever, ascites, anasarca and intestinal obstruction. |
| Alzheimer's disease 6 | |
| Hereditary nonpolyposis colorectal cancer type 4 | |
| Subclavian steal syndrome | |
| Cornea cancer | |
| Nemaline myopathy 5A | |
| Snowflake vitreoretinal degeneration | |
| Extragonadal seminoma | |
| Autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques | |
| Autosomal recessive congenital ichthyosis 5 | |
| Autosomal recessive congenital ichthyosis 6 | |
| Autosomal recessive congenital ichthyosis 9 | |
| Autosomal recessive congenital ichthyosis 10 | |
| arthrogryposis, renal dysfunction, and cholestasis 1 | |
| Dihydropyrimidine dehydrogenase deficiency | A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine. |
| Ochronosis | |
| Fetal akinesia deformation sequence syndrome 4 | |
| Nemaline myopathy 2 | |
| Alkuraya-Kucinskas syndrome | |
| Acquired polycythemia | |
| Diffuse pulmonary fibrosis | |
| Retroperitoneal leiomyosarcoma | |
| Spinocerebellar ataxia type 35 | |
| X-linked cerebellar ataxia | |
| X-linked spinocerebellar ataxia 1 | |
| Spinocerebellar ataxia type 30 | |
| Autosomal recessive spinocerebellar ataxia 28 | |
| Autosomal recessive spinocerebellar ataxia 31 | |
| Spinocerebellar ataxia type 26 | |
| Myofibrillar myopathy 8 | |
| Myofibrillar myopathy 7 | |
| Centronuclear myopathy 5 | |
| Spastic ataxia 4 | |
| Autosomal recessive spinocerebellar ataxia 15 | |
| Autosomal recessive spinocerebellar ataxia 8 | |
| Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| Autosomal recessive limb-girdle muscular dystrophy type 2W | |
| Hypomyelinating leukodystrophy 7 | |
| Hereditary spastic paraplegia 11 | |
| Familial hemiplegic migraine 1 | |
| Hereditary spastic paraplegia 7 | |
| Ohdo syndrome, SBBYS variant | |
| Combined oxidative phosphorylation deficiency 18 | |
| Spermatogenic failure 19 | |
| Ureter transitional cell carcinoma | |
| Glycine N-methyltransferase deficiency | |
| D-2-hydroxyglutaric aciduria 2 | |
| Familial glucocorticoid deficiency | |
| Mitochondrial complex III deficiency nuclear type 5 | |
| Bone giant cell sarcoma | A malignant giant cell tumor that is composed_of multinucleated giant cells. |
| Mitochondrial complex V (ATP synthase) deficiency nuclear type 4 | A mitochondrial metabolism disease that has material basis in mutation in the ATP5A1 gene on chromosome 18q. |
| Combined oxidative phosphorylation deficiency 22 | |
| Mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 | |
| Malignant giant cell tumor | |
| Optic atrophy 8 | |
| Mitochondrial complex V (ATP synthase) deficiency | |
| Distal myopathy 3 | |
| Eustachian tube disease | A non-suppurative otitis media and eustachian tube disorder in which the tube is either too narrow or too wide. It can also be cuased by nasal inflammation which leads to inflammatory swelling and obstruction of the eustachian tube, which, in turn, leads to increased negative pressure in the middle ear and improper ventilation. |
| Griscelli syndrome type 1 | |
| Kyphoscoliotic heart disease | |
| Poorly differentiated chordoma | |
| Vulvar squamous tumor | |
| Maxillary sinus adenoid cystic carcinoma | |
| Thunderstorm triggered asthma | |
| Skin angiosarcoma | |
| Meckel syndrome 8 | |
| Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| Small intestine neuroendocrine neoplasm | |
| Rigid spine muscular dystrophy 1 | |
| Lacrimal gland adenoid cystic carcinoma | |
| Autosomal dominant intellectual developmental disorder 42 | |
| Hereditary spastic paraplegia 27 | |
| Hereditary spastic paraplegia 36 | |
| Hereditary spastic paraplegia 30 | |
| Hereditary spastic paraplegia 26 | |
| Hereditary spastic paraplegia 63 | |
| Hereditary spastic paraplegia 45 | |
| Hereditary spastic paraplegia 43 | |
| Charcot-Marie-Tooth disease axonal type 2H | |
| Hereditary spastic paraplegia 37 | |
| Hereditary spastic paraplegia 56 | |
| Hereditary spastic paraplegia 46 | |
| Charcot-Marie-Tooth disease axonal type 2S | |
| Charcot-Marie-Tooth disease axonal type 2T | |
| Charcot-Marie-Tooth disease type 2R | |
| Charcot-Marie-Tooth disease axonal type 2P | |
| Hereditary spastic paraplegia 77 | |
| Hereditary spastic paraplegia 70 | |
| Congenital diarrhea 7 with exudative enteropathy | |
| Developmental and epileptic encephalopathy 30 | |
| Hereditary spastic paraplegia 5A | |
| SPOAN syndrome | |
| Hereditary spastic paraplegia 8 | |
| Oliver-McFarlane syndrome | |
| dystonia, DOPA-responsive | |
| Weissenbacher-Zweymuller syndrome | |
| Spermatogenic failure 1 | |
| Autosomal recessive nonsyndromic deafness 109 | |
| Syndromic microphthalmia 6 | |
| Acromesomelic dysplasia, Grebe type | |
| Dentine erosion | |
| Pulmonary talcosis | |
| Holoprosencephaly 8 | |
| Central nervous system germinoma | |
| Chromosome 10q23 deletion syndrome | |
| Hermansky-Pudlak syndrome 4 | |
| Pitt-Hopkins-like syndrome 2 | |
| Kleefstra syndrome 2 | |
| Thyroid gland papillary carcinoma | |
| Fibrochondrogenesis 2 | |
| Joubert syndrome 30 | |
| Joubert syndrome 5 | |
| non-syndromic X-linked intellectual disability 81 | |
| Hypotropia | |
| Abnormal retinal correspondence | |
| Syndromic microphthalmia 12 | |
| Achromatopsia 2 | |
| non-syndromic X-linked intellectual disability 63 | |
| Immunodeficiency 33 | |
| Primary optic atrophy | |
| Bardet-Biedl syndrome 5 | |
| Cornelia de Lange syndrome 1 | |
| Radial neuropathy | |
| Thalamic disease | |
| Crouzon syndrome-acanthosis nigricans syndrome | |
| Alzheimer's disease 1 | |
| Accommodative esotropia | |
| Sarcoma with BCOR genetic alterations | |
| Uveal coloboma-cleft lip and palate-intellectual disability | |
| Pontocerebellar hypoplasia type 2E | NT MGI. |
| Muscular dystrophy-dystroglycanopathy type B5 | |
| Muscular dystrophy-dystroglycanopathy type B | |
| Small cell osteogenic sarcoma | |
| Congenital disorder of glycosylation type IId | |
| Pontocerebellar hypoplasia type 2 | |
| Cascade stomach | |
| Gallbladder small cell carcinoma | |
| Spondylocostal dysostosis 1 | |
| Large intestine adenoma | |
| X-linked VACTERL association | |
| Embryonal tumor with multilayered rosettes, C19MC-altered | |
| early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome | |
| Spondylocostal dysostosis 6 | |
| Posterior cerebral artery infarction | |
| Anterior cerebral artery infarction | |
| childhood-onset dystonia with optic atrophy and basal ganglia abnormalities | |
| Basaloid lung carcinoma | |
| Methylmalonic acidemia cblA type | |
| 2-aminoadipic 2-oxoadipic aciduria | |
| Methylmalonic acidemia cblB type | |
| Hyperprolinemia type 2 | Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay. |
| Breast lipid-rich carcinoma | |
| Hemochromatosis type 2B | |
| brachydactyly-syndactyly syndrome | OMIM mapping confirmed by DO. [SN]. |
| Osteogenesis imperfecta type 15 | |
| organophosphate-induced delayed polyneuropathy | |
| Meninges sarcoma | |
| Multiple mitochondrial dysfunctions syndrome 1 | |
| 3-Methylcrotonyl-CoA carboxylase 2 deficiency | |
| 3-Methylcrotonyl-CoA carboxylase 1 deficiency | |
| Pediculus humanus capitis infestation | A lice infestation that involves colonization of the hair and skin by the parasitic insect Pediculus humanus capitis, which feeds on blood several times daily and resides close to the scalp to maintain its body temperature. The symptoms include tickling feeling of something moving in the hair, itching, caused by an allergic reaction to louse saliva, and irritability. |
| alpha-thalassemia myelodysplasia syndrome | |
| Patterned macular dystrophy 3 | |
| Hereditary spastic paraplegia 64 | |
| Patterned macular dystrophy | |
| CADASIL 2 | |
| Factor X deficiency | |
| Autosomal recessive cutis laxa type IA | |
| Autosomal recessive cutis laxa type IB | |
| Autosomal recessive cutis laxa type IC | |
| Autosomal dominant cutis laxa 1 | |
| Cardiofaciocutaneous syndrome 3 | |
| Autosomal recessive cutis laxa type I | |
| Familial cold autoinflammatory syndrome 1 | |
| Branchiootorenal syndrome 1 | |
| Retinitis pigmentosa 9 | |
| Autosomal recessive cutis laxa type III | |
| astrocytoma, IDH-mutant, grade 2 | |
| Sneddon syndrome | |
| Hepatic infarction | |
| Dilated cardiomyopathy 1M | |
| Vascular myelopathy | |
| Substernal goiter | |
| Achromatopsia 4 | |
| Psoriasis 8 | |
| Arthrogryposis multiplex congenita-6 | |
| Renal artery disease | |
| Orange allergy | |
| Liver rhabdomyosarcoma | A rhabdomyosarcoma and sarcoma of liver that are located_in the liver. |
| Toxic maculopathy | |
| Psoriasis 7 | |
| Adie syndrome | A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon. |
| Familial adult myoclonic epilepsy 2 | |
| Intellectual developmental disorder with cardiac arrhythmia | |
| Intravenous leiomyomatosis | |
| Severe congenital neutropenia 5 | |
| Severe congenital neutropenia 4 | |
| B-lymphoblastic leukemia/lymphoma with hyperdiploidy | |
| Immunodeficiency 71 | |
| Severe congenital neutropenia 2 | |
| Hereditary neutrophilia | |
| Filippi syndrome | |
| Hemometra | |
| Immunodeficiency 20 | |
| Galloway-Mowat syndrome 3 | |
| Galloway-Mowat syndrome 4 | |
| Hypogonadotropic hypogonadism 2 with or without anosmia | |
| Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | |
| Primary autosomal recessive microcephaly 4 | |
| Syphilitic encephalitis | |
| Restrictive cardiomyopathy 2 | |
| Lipoma of colon | |
| Large intestine lipoma | |
| Autosomal dominant keratitis-ichthyosis-deafness syndrome | |
| Atopic dermatitis 2 | |
| Mulchandani-Bhoj-Conlin syndrome | |
| Cicatricial lagophthalmos | |
| Proprotein convertase 1/3 deficiency | |
| Hypothalamic neoplasm | |
| Small intestine leiomyosarcoma | A small intestine sarcoma that affects the involuntary smooth muscles of the small intestines. |
| Combined oxidative phosphorylation deficiency 23 | |
| Splenic flexure cancer | |
| Central precocious puberty 2 | |
| Extrahepatic bile duct adenocarcinoma | An extrahepatic bile duct carcinoma that derives_from epithelial cells of glandular origin. |
| Spinal canal intradural extramedullary neoplasm | |
| Tuberculum sellae meningioma | |
| Sella turcica neoplasm | |
| Hereditary angioedema type I | |
| Trachea adenoid cystic carcinoma | |
| Nonpapillary renal cell carcinoma | OMIM mapping confirmed by DO. [SN]. |
| Trachea carcinoma | A tracheal cancer that effects the airway that leads from the larynx to the bronchi. |
| Spermatogenic failure 21 | |
| Leber congenital amaurosis 15 | |
| Retinitis pigmentosa 14 | |
| renal-hepatic-pancreatic dysplasia | |
| Familial hemophagocytic lymphohistiocytosis 2 | |
| Psoriasis 15 | |
| Schindler disease type 1 | |
| Lymphoproliferative syndrome 1 | |
| Optic disc anomalies with retinal and/or macular dystrophy | |
| Familial hemophagocytic lymphohistiocytosis 1 | |
| Immunodeficiency 11B | |
| Synovium neoplasm | |
| Acute hemorrhagic encephalitis | |
| Immunodeficiency 60 | |
| Ghosal hematodiaphyseal syndrome | |
| Platelet storage pool deficiency | |
| Sigmoid disease | |
| Joubert syndrome 13 | |
| Transient global amnesia | An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories. |
| Kenny-Caffey syndrome type 1 | |
| Mitochondrial DNA depletion syndrome 17 | |
| Combined oxidative phosphorylation deficiency 35 | |
| Brugada syndrome 2 | |
| Short stature, hearing loss, retinitis pigmentosa, and distinctive facies | |
| Hypotrichosis 13 | |
| Hypotrichosis 8 | |
| Alcoholic psychosis | |
| Meier-Gorlin syndrome 5 | |
| microcephaly-micromelia syndrome | |
| Meier-Gorlin syndrome 7 | |
| Van Esch-O'Driscoll syndrome | |
| Meier-Gorlin syndrome 8 | |
| Autosomal dominant nonsyndromic deafness 70 | |
| Fanconi anemia complementation group T | |
| Fanconi anemia complementation group Q | |
| Friedreich ataxia 2 | |
| Lethal congenital contracture syndrome 2 | |
| Autosomal dominant distal hereditary motor neuronopathy 9 | |
| Lissencephaly 6 | |
| Dacryocystocele | |
| Chronic inflammation of lacrimal passage | |
| Erythematosquamous dermatosis | |
| Anterior horn cell disease | |
| Charcot-Marie-Tooth disease axonal type 2CC | |
| Amyotrophic lateral sclerosis type 5 | A type of ALS with juvenile onset with loci associated with the disease located_in chromosome 15. |
| X-linked distal spinal muscular atrophy 3 | |
| Lethal congenital contracture syndrome 1 | |
| maturity-onset diabetes of the young type 7 | |
| Congenital dyserythropoietic anemia type I | Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis. |
| ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 | |
| Muscular dystrophy-dystroglycanopathy type B3 | |
| Joubert syndrome 27 | |
| Developmental and epileptic encephalopathy 50 | |
| Benign pleural mesothelioma | |
| Joubert syndrome 18 | |
| Congenital muscular dystrophy-dystroglycanopathy type A3 | |
| Joubert syndrome 24 | |
| Joubert syndrome 22 | |
| Congenital dyserythropoietic anemia type IV | |
| Joubert syndrome 21 | |
| Essential tremor 5 | |
| Granular cell carcinoma | A carcinoma that derives_from epithelial cells, with polygonal accumulation of secondary lysosomes in the cytoplasm. |
| Amyotrophic lateral sclerosis type 10 | A type of ALS caused_by mutation located_in TARDBP gene located_in chromosome 1. |
| Autosomal recessive distal hereditary motor neuronopathy 4 | |
| Charcot-Marie-Tooth disease recessive intermediate C | |
| Hepatic angiomyolipoma | |
| Autosomal dominant Robinow syndrome 2 | |
| Osteogenesis imperfecta type 16 | |
| Schizophrenia 15 | |
| Chromosome 17q21.31 duplication syndrome | |
| Developmental and epileptic encephalopathy 39 | |
| neurofibromatosis-Noonan syndrome | |
| Congenital myasthenic syndrome 21 | |
| Peeling skin syndrome 5 | |
| Cataract 4 multiple types | |
| Congenital megabladder | |
| Spondyloepimetaphyseal dysplasia, Genevieve-type | |
| Baastrup's syndrome | |
| Developmental and epileptic encephalopathy 42 | |
| Brachydactyly type A4 | |
| Xanthinuria type II | |
| alpha-methylacyl-CoA racemase deficiency | |
| Muscular dystrophy-dystroglycanopathy type B6 | |
| Hereditary alpha tryptasemia syndrome | |
| Gene duplication disease | |
| Diffuse cutaneous mastocytosis | |
| Solitary mastocytoma of the skin | |
| mast-cell sarcoma | |
| Retrograde amnesia | An amnestic disorder that involves a loss of one's pre-existing memories to conscious recollection. |
| Brachydactyly type A6 | |
| Frontometaphyseal dysplasia 2 | |
| Native American myopathy | Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia. |
| Retinitis pigmentosa 44 | |
| Lateral cystocele | |
| Ischemic fasciitis | |
| Cerebellar ataxia type 9 | |
| Queensland tick typhus | A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy. |
| Far Eastern spotted fever | A spotted fever that has_material_basis_in Rickettsia heilongjiangensis, which is transmitted_by ticks (Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy. |
| Autosomal dominant dyskeratosis congenita 2 | |
| Developmental and epileptic encephalopathy 38 | |
| Lethal congenital contracture syndrome 3 | |
| Hypertrophic cardiomyopathy 26 | |
| Myoclonic dystonia 26 | |
| Israeli tick typhus | A spotted fever that has_material_basis_in Rickettsia conorii subsp israelensis, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities. |
| Parameningeal embryonal rhabdomyosarcoma | |
| Episodic kinesigenic dyskinesia 2 | |
| Focal segmental glomerulosclerosis 3 | |
| Vissers-Bodmer syndrome | |
| Bardet-Biedl syndrome 17 | |
| Skin amelanotic melanoma | |
| Familial partial lipodystrophy type 6 | |
| Acantholytic acanthoma | |
| Disseminated chorioretinitis | |
| platelet-type bleeding disorder 17 | |
| Endometrial clear cell adenocarcinoma | |
| Malignant epithelioid hemangioendothelioma | |
| Aniseikonia | |
| Coffin-Siris syndrome 2 | |
| Intracranial arteriosclerosis | |
| Dystonia 27 | |
| Kidney leiomyosarcoma | A leiomyosarcoma and sarcoma of kidney that is located_in the kidney. |
| Colon small cell carcinoma | |
| Inflammatory bowel disease 27 | |
| Common variable immunodeficiency 1 | |
| Common variable immunodeficiency 3 | |
| Intermittent squint | |
| Developmental and epileptic encephalopathy 31A | |
| Cerebral angioma | |
| Hot water epilepsy | |
| Capgras syndrome | A delusional disorder in which a person holds a delusion that a friend, spouse, parent, or other close family member has been replaced by an identical-looking impostor. |
| Myoclonic dystonia | |
| Generalized epilepsy with febrile seizures plus 9 | |
| Vertebral anomalies and variable endocrine and T-cell dysfunction | |
| ataxia-telangiectasia-like disorder-1 | |
| Bilateral frontal polymicrogyria | |
| Distal arthrogryposis type 1B | |
| Oral mucosa leukoplakia | |
| Viral gastritis | |
| Familial adult myoclonic epilepsy 4 | |
| Developmental and epileptic encephalopathy 23 | |
| Psoriasis 12 | |
| Familial adult myoclonic epilepsy 5 | |
| IVIC syndrome | IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss. |
| Distal arthrogryposis type 10 | |
| Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 | |
| X-linked deafness 5 | |
| Developmental and epileptic encephalopathy 60 | |
| Developmental and epileptic encephalopathy 62 | |
| X-linked spinal muscular atrophy 2 | |
| Hypogonadotropic hypogonadism 14 with or without anosmia | |
| Diffuse lipomatosis | |
| Childhood central nervous system embryonal tumor | |
| Chronic laryngitis | A laryngitis in which symptoms last longer than three weeks. Gastroesophageal reflux, and lingering bronchitis can cause the disease. |
| Acute vascular insufficiency of intestine | |
| oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 | |
| Oculoglandular tularemia | A tularemia that results_in inflammation of eye and swelling of lymph glands in front of the ear. |
| Colon Kaposi sarcoma | |
| Autosomal recessive intellectual developmental disorder 5 | |
| Colon sarcoma | |
| X-linked spinocerebellar ataxia 5 | |
| Chronic myelogenous leukemia, BCR-ABL1 positive | |
| Toxic pneumonitis | A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects. |
| Prothrombin thrombophilia | |
| Chromosome 17q12 duplication syndrome | |
| 3MC syndrome 1 | |
| Thrombophlebitis migrans | |
| Plasminogen deficiency type I | |
| Cholesterol embolism | A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream. |
| non-syndromic X-linked intellectual disability 106 | |
| Bilateral generalized polymicrogyria | |
| Nephronophthisis 18 | |
| PLACK syndrome | |
| Hydrolethalus syndrome 1 | |
| Autosomal dominant microcephaly | OMIM mapping confirmed by DO. [SN]. |
| Miyoshi muscular dystrophy 1 | |
| Cenani-Lenz syndactyly syndrome | |
| Charcot-Marie-Tooth disease dominant intermediate C | |
| Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| 46,XY sex reversal 8 | |
| Agammaglobulinemia 2 | |
| Ulcer of lower limbs | |
| Primary coenzyme Q10 deficiency 6 | |
| Angelucci's syndrome | |
| Acute apical periodontitis | |
| Familial progressive hyperpigmentation with or without hypopigmentation | |
| Retinitis pigmentosa 33 | |
| Recombinase activating gene 1 deficiency | A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. |
| Combined cellular and humoral immune defects with granulomas | |
| Immunodeficiency 39 | |
| Bladder tuberculosis | An urogenital tuberculosis that is located_in urinary bladder, which results in fibrosis of bladder wall muscles. |
| Cataract 44 | |
| Esophageal lipoma | |
| Distal arthrogryposis type 1A | |
| Distal arthrogryposis type 1 | |
| cold-induced sweating syndrome 2 | |
| Hyper IgE recurrent infection syndrome 4 | |
| Sodoku disease | |
| Chronic frontal sinusitis | A frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage. |
| Acute myeloid leukemia with t(8;21); (q22; q22.1) | |
| Oculomotor nerve paralysis | |
| Dentin sensitivity | |
| Acute myeloid leukemia with myelodysplasia-related changes | |
| Immunodeficiency 38 | |
| Tuberculous salpingitis | An urogenital tuberculosis that results_in formation of granulomas located_in fallopian tube. |
| Transient neonatal thrombocytopenia | |
| Transient neonatal neutropenia | |
| Retinitis pigmentosa 43 | |
| Immunodeficiency 15A | |
| Ectodermal dysplasia and immunodeficiency 1 | |
| Immunodeficiency 15B | |
| Combined oxidative phosphorylation deficiency 13 | |
| Watson syndrome | |
| Chromosome 6pter-p24 deletion syndrome | |
| Senile angioma | |
| Hypogonadotropic hypogonadism 18 with or without anosmia | |
| Childhood hepatocellular carcinoma | |
| Hypertrophic cardiomyopathy 25 | |
| Vagus nerve disease | |
| Immunodeficiency 17 | |
| Chromosome 16p13.3 duplication syndrome | |
| Transcobalamin II deficiency | A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII. |
| Diphyllobothriasis | A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia. |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | |
| Congenital intrinsic factor deficiency | A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption. |
| Conjugate gaze palsy | |
| D-bifunctional protein deficiency | |
| Cataract 11 multiple types | |
| X-linked endothelial corneal dystrophy | |
| Triosephosphate isomerase deficiency | A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_physical_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait. |
| Coloboma of optic nerve | OMIM mapping confirmed by DO. [SN]. |
| Mitochondrial DNA depletion syndrome 12a | |
| Congenital disorder of glycosylation Ij | |
| glutamate-cysteine ligase deficiency | |
| Leukorrhea | |
| Autosomal dominant distal hereditary motor neuronopathy 7 | |
| Intracranial chondrosarcoma | |
| Severe congenital neutropenia 7 | |
| Villonodular synovitis | |
| Neonatal myasthenia gravis | |
| Juxtacortical chondroma | |
| Sclerosteosis 2 | |
| Plantar fascial fibromatosis | |
| Blackwater fever | A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax. |
| Pyridoxamine 5'-phosphate oxidase deficiency | |
| Rumination disorder | An eating disorder that is characterized by effortless regurgitation of most meals following consumption. |
| Charcot-Marie-Tooth disease type 1F | |
| Ring corneal ulcer | |
| Mycotic corneal ulcer | |
| Hypopyon ulcer | |
| Cataract 10 multiple types | |
| non-gestational ovarian choriocarcinoma | |
| Choriocarcinoma of ovary | |
| Inflammatory bowel disease 26 | |
| Age related macular degeneration 8 | |
| Syndromic microphthalmia 5 | |
| Breast fibrosarcoma | |
| Childhood oligodendroglioma | |
| Spermatogenic failure 25 | |
| myopathy, lactic acidosis, and sideroblastic anemia 1 | |
| Multiple mitochondrial dysfunctions syndrome 4 | |
| Cataract 3 multiple types | |
| Charcot-Marie-Tooth disease type 2J | |
| Hypertrophic cardiomyopathy 18 | |
| Hypertrophic cardiomyopathy 16 | |
| Hypertrophic cardiomyopathy 17 | |
| Parkinson's disease 14 | |
| Autosomal dominant intellectual developmental disorder 38 | |
| Oropharyngeal anthrax | |
| Pontocerebellar hypoplasia type 10 | NT MGI. |
| non-syndromic X-linked intellectual disability 30 | |
| Tricuspid valve stenosis | A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve. |
| Lujo hemorrhagic fever | |
| Chapare hemorrhagic fever | |
| Blessig's cysts | |
| Uterus perivascular epithelioid cell tumor | |
| Flinders Island spotted fever | A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy. |
| Hereditary spastic paraplegia 47 | |
| Solitary fibrous tumor/hemangiopericytoma | |
| Alzheimer's disease 5 | |
| Woodhouse-Sakati syndrome | Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. |
| Compensatory emphysema | |
| Suprasellar meningioma | |
| Plasmodium malariae malaria | A malaria caused by a parasite Plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals. |
| Frontal sinusitis | A sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead. |
| Hydrolethalus syndrome | An autosomal recessive disease characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation. |
| Neurotic excoriation | |
| Clivus chordoma | |
| Adult astrocytic tumor | |
| X-linked nephrolithiasis type I | |
| Nuclear type mitochondrial complex I deficiency 33 | |
| Mixed liposarcoma | |
| Waardenburg syndrome type 2C | |
| Chromosome 22q13 duplication syndrome | |
| Hypomyelinating leukodystrophy 20 | |
| Hypomyelinating leukodystrophy 25 | |
| Hypomyelinating leukodystrophy 26 | |
| Gaucher's disease perinatal lethal | |
| Gallbladder papillomatosis | |
| Combined oxidative phosphorylation deficiency 27 | |
| Dystonia 31 | |
| Hypomyelinating leukodystrophy 14 | |
| Hereditary spastic paraplegia 3A | |
| Hypomyelinating leukodystrophy 3 | |
| Dystonia 30 | |
| Spastic ataxia 8 | |
| Autosomal dominant intellectual developmental disorder 1 | |
| Leukoencephalopathy with vanishing white matter 5 | |
| myostatin-related muscle hypertrophy | |
| Inflammatory spondylopathy | |
| Juvenile spinal muscular atrophy | OMIM mapping confirmed by DO. [SN]. |
| sea-blue histiocytosis | An abnormality of macrophages, also known as histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. |
| Gliomatosis cerebri | |
| Alternating exotropia | |
| Cellular ependymoma | |
| Pancreatic intraductal papillary-colloid carcinoma | |
| Spinal polio | |
| Bulbospinal polio | |
| Endobronchial lipoma | |
| Chronic congestive splenomegaly | |
| Pulmonary coin lesion | |
| Fat necrosis of breast | |
| Rectum lymphoma | |
| Schizophrenia 14 | |
| Haverhill fever | |
| Laryngeal neuroendocrine tumor | |
| Salivary gland mucinous adenocarcinoma | |
| Cervical adenosarcoma | A cervical carcinosarcoma that is located_in the cervix. |
| Cataract 21 multiple types | |
| Dermatosis papulosa nigra | OMIM mapping confirmed by DO. [SN]. |
| Bulbar polio | |
| Psoriasis 6 | |
| Psoriasis 5 | |
| Conjunctival pterygium | |
| Chondroid lipoma | A lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women. |
| Meckel's diverticulitis | |
| Polycystic echinococcosis | |
| Chest wall lymphoma | A thoracic cancer that is located_in the chest wall. |
| Vasculogenic impotence | |
| Glomangiomatosis | |
| Subendocardial myocardial infarction | |
| Nasal cavity squamous cell carcinoma | A nasal cavity carcinoma that has_material_basis_in squamous cells. |
| Psoriasis 9 | |
| Spindle cell lipoma | A lipoma that is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men. |
| Cerebellopontine angle meningioma | |
| Pleomorphic lipoma | A lipoma that is characterized by floret giant cells with overlapping nuclei. |
| Thyroid gland Hurthle cell carcinoma | |
| Liver lipoma | |
| Mitochondrial DNA depletion syndrome 1 | |
| Intravascular fasciitis | |
| Fibroosseous pseudotumor of digits | |
| platelet-type bleeding disorder 14 | |
| Congenital muscular dystrophy-dystroglycanopathy type A6 | |
| Myofibroma | |
| Pericytoma with t(7;12) | |
| Bernard-Soulier syndrome type A2 | |
| Autosomal recessive nonsyndromic deafness 53 | |
| Hypertrophic cardiomyopathy 3 | |
| Breast hemangioma | |
| Subungual glomus tumor | |
| Metatypical basal cell carcinoma | |
| Nephrotic syndrome type 4 | |
| Hypertrophic cardiomyopathy 2 | |
| platelet-type bleeding disorder 8 | |
| Teebi hypertelorism syndrome 1 | |
| platelet-type bleeding disorder 18 | |
| Orbital granuloma | |
| Developmental and epileptic encephalopathy 37 | |
| Autosomal recessive spinocerebellar ataxia 32 | |
| Lown-Ganong-Levine syndrome | A syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles. |
| Retinal microaneurysm | |
| Progressive myoclonus epilepsy 7 | |
| X-linked lissencephaly 2 | |
| Petroclival meningioma | |
| Strabismic amblyopia | |
| Crab allergy | |
| Chromosome 15q11.2 deletion syndrome | |
| Melon allergy | |
| Developmental and epileptic encephalopathy 32 | |
| Renal pelvis squamous cell carcinoma | |
| Chromophobe adenoma | |
| Flying phobia | |
| Developmental and epileptic encephalopathy 103 | |
| Chlorhexidine allergy | |
| Lissencephaly 3 | |
| Chicken egg allergy | |
| Charlevoix-Saguenay spastic ataxia | |
| Generalized epilepsy with febrile seizures plus 1 | |
| Urethra transitional cell carcinoma | |
| Cranioectodermal dysplasia 1 | |
| Tuberculous epididymitis | An urogenital tuberculosis that is located_in epididymis, has_symptom pain and has_symptom scrotal swelling. |
| Trigonitis | |
| Prostate squamous cell carcinoma | |
| Cancerophobia | |
| Nosophobia | A specific phobia that involves an irrational fear of contracting a disease. |
| Choroid plexus meningioma | |
| Bladder neck obstruction | |
| Conventional leiomyosarcoma | |
| Psammomatous meningioma | |
| Familial meningioma | OMIM mapping confirmed by DO. [SN]. |
| Parasagittal meningioma | |
| Cerebral convexity meningioma | |
| Hermansky-Pudlak syndrome 6 | |
| Splenic manifestation of leukemia | |
| Type 1 diabetes mellitus 7 | |
| Type 1 diabetes mellitus 8 | |
| Retinal hemangioblastoma | |
| Retinitis pigmentosa 42 | |
| Peroxisome biogenesis disorder 6B | |
| Nemaline myopathy 6 | |
| cold-induced sweating syndrome 1 | |
| Amyotrophic lateral sclerosis type 18 | A type of ALS caused_by mutation located_in PFN1 gene located_in chromosome 17. |
| Autosomal dominant distal hereditary motor neuronopathy 6 | |
| Immunodeficiency 26 | |
| non-syndromic X-linked intellectual disability 101 | |
| non-syndromic X-linked intellectual disability 103 | |
| Autosomal dominant sensory ataxia 1 | |
| Central nervous system tumor with BCOR internal tandem duplication | |
| Aagenaes syndrome | A syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts. |
| Japanese spotted fever | A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities. |
| Optic atrophy 9 | |
| Optic atrophy 5 | |
| Thyroid dyshormonogenesis 2A | |
| Acute tympanitis | |
| Complex cortical dysplasia with other brain malformations 7 | |
| Autosomal dominant distal hereditary motor neuronopathy 8 | |
| Pontocerebellar hypoplasia type 1E | |
| Prostate leiomyosarcoma | A prostate sarcoma that is located_in the prostate. |
| Dilated cardiomyopathy 1D | |
| Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | |
| Hodgkin's lymphoma, lymphocytic depletion | |
| Autosomal dominant distal hereditary motor neuronopathy 3 | |
| Acute promyelocytic leukemia with PML-RARA | |
| Immunodeficiency 57 | |
| Amyotrophic lateral sclerosis type 20 | A type of ALS with juvenile onset caused_by mutation located_in HNRNPA1 gene located_in chromosome 12. |
| Distal arthrogryposis type 1C | |
| 46,XX sex reversal 3 | |
| Developmental and epileptic encephalopathy 1 | |
| Trichohepatoenteric syndrome 2 | |
| Aortic valve prolapse | |
| Distal arthrogryposis type 7 | |
| Developmental and epileptic encephalopathy 91 | |
| Syndromic microphthalmia 10 | |
| Indolent plasma cell myeloma | |
| Granulomatous endometritis | |
| Inflammatory bowel disease 20 | |
| Gallbladder melanoma | |
| Cellular neurofibroma | |
| Congenital generalized lipodystrophy type 1 | |
| Bacterial exanthem | |
| Familial partial lipodystrophy type 3 | |
| Congenital generalized lipodystrophy type 4 | |
| Carbapenem allergy | |
| Senile entropion | |
| Tracheal cancer | A respiratory system cancer that is located_in the trachea. |
| Autosomal recessive nonsyndromic deafness 110 | |
| Autosomal recessive nonsyndromic deafness 15 | |
| Autosomal dominant nonsyndromic deafness 20 | |
| Necatoriasis | A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching. |
| Hereditary spastic paraplegia 52 | |
| Holoprosencephaly 2 | |
| Congenital nongoitrous hypothyroidism 6 | |
| Trichohepatoenteric syndrome 1 | |
| Cowden syndrome 6 | |
| Noonan syndrome 12 | |
| Glandular tularemia | A tularemia that results_in swelling of regional lymph glands. |
| Kidney fibrosarcoma | |
| Congenital nystagmus 3 | |
| Charcot-Marie-Tooth disease dominant intermediate A | |
| non-syndromic X-linked intellectual disability 1 | |
| Skin granular cell tumor | |
| Unilateral focal polymicrogyria | |
| Immunodeficiency 58 | |
| Hyperekplexia 4 | |
| Hereditary sensory neuropathy type 1D | |
| Hermansky-Pudlak syndrome 9 | |
| Sparganosis | A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected. |
| Melanoma and neural system tumor syndrome | |
| Nonparalytic poliomyelitis | |
| Congenital stationary night blindness 1H | |
| non-syndromic X-linked intellectual disability 90 | |
| Congenital muscular dystrophy with cataracts and intellectual disability | |
| Centronuclear myopathy 1 | |
| Retinitis pigmentosa 6 | |
| Cerebral folate receptor alpha deficiency | |
| proteosome-associated autoinflammatory syndrome 2 | |
| proteasome-associated autoinflammatory syndrome 3 | |
| proteosome-associated autoinflammatory syndrome 4 | |
| proteosome-associated autoinflammatory syndrome 5 | |
| Atrophoderma vermiculata | |
| Hereditary sensory and autonomic neuropathy type 8 | |
| Hereditary sensory neuropathy type 1B | |
| Hereditary sensory and autonomic neuropathy type 7 | |
| Hereditary sensory neuropathy type 1F | |
| Centronuclear myopathy 2 | |
| Charcot-Marie-Tooth disease axonal type 2U | |
| Neu-Laxova syndrome 1 | |
| Alzheimer's disease 4 | |
| Charcot-Marie-Tooth disease X-linked recessive 3 | |
| Familial episodic pain syndrome 3 | |
| Autosomal recessive spinocerebellar ataxia 21 | |
| PSPH deficiency | A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine. |
| Autosomal recessive spinocerebellar ataxia 4 | |
| Charcot-Marie-Tooth disease recessive intermediate A | |
| Hereditary mixed polyposis syndrome 1 | |
| Periosteal chondrosarcoma | |
| Superficial urinary bladder cancer | A carcinoma of bladder that originates in the epithelial cells (the internal lining) of the bladder wall and is limited to this area. |
| Gastric small cell carcinoma | |
| Breast neuroendocrine neoplasm | |
| Ureter small cell carcinoma | |
| Vaginal glandular tumor | |
| Cervical large cell neuroendocrine carcinoma | |
| Thymus small cell carcinoma | |
| Adrenal neuroblastoma | An adrenal gland cancer that derives_from immature neuroblastic cells. |
| Glomangiomyoma | |
| Central neurocytoma | |
| Intracranial primitive neuroectodermal tumor | |
| Cerebral neuroblastoma | |
| Nodular ganglioneuroblastoma | |
| Sclerosing hepatic carcinoma | |
| Diaphragma sellae meningioma | |
| Liver leiomyosarcoma | A leiomyosarcoma and sarcoma of liver that is located_in the liver. |
| Papillary glioneuronal tumor | |
| Adenosquamous prostate carcinoma | A prostate carcinoma that derives_from squamous cells and gland-like cells. |
| Pineal parenchymal tumor of intermediate differentiation | |
| Lung combined large cell neuroendocrine carcinoma | |
| Vulvar eccrine porocarcinoma | |
| Nelson syndrome | |
| Pancreas lymphoma | |
| Endometrial small cell carcinoma | |
| Rectal leiomyoma | |
| Atypical follicular adenoma | |
| Papillary thymic adenocarcinoma | |
| Multiple mucosal neuroma | |
| Prostate lymphoma | |
| Carotid body cancer | A vascular cancer that is characterized by an encapsulated, firm round mass at the bifurcation of the common carotid artery. |
| Lung meningioma | |
| Venous hemangioma | |
| Polymorphous low grade neuroepithelial tumour of the young | |
| Conventional angiosarcoma | |
| Thymus large cell carcinoma | |
| Lung combined type small cell carcinoma | A lung small cell carcinoma that is characterized as a multiphasic lung cancer comprised of a mixture of small cell and non-small cell lung carcinoma cells. |
| Kidney clear cell sarcoma | A kidney sarcoma that has_material_basis_in clear cells that are characterized as cells that look clear when viewed under a microscope. |
| Ovary leiomyosarcoma | |
| Angiomyoma | |
| Pineal region choriocarcinoma | |
| Esophageal adenoid cystic carcinoma | |
| Solid adenocarcinoma with mucin production | |
| Pineal region meningioma | |
| Pancreatic vasoactive intestinal peptide producing tumor | |
| Meninges hemangiopericytoma | |
| Congenital bile acid synthesis defect 2 | |
| Hypotrichosis 4 | |
| Subclavian artery aneurysm | |
| Congenital bile acid synthesis defect 3 | |
| Craniotubular dysplasia Ikegawa type | |
| Ophthalmia nodosa | |
| Pontocerebellar hypoplasia type 1A | NT MGI. |
| Pontocerebellar hypoplasia type 8 | NT MGI. |
| Hereditary spastic paraplegia 84 | |
| Charcot-Marie-Tooth disease dominant intermediate E | |
| Hereditary spastic paraplegia 57 | |
| Pontocerebellar hypoplasia type 4 | NT MGI. |
| Charcot-Marie-Tooth disease axonal type 2V | |
| Cerebellofaciodental syndrome | |
| Autosomal dominant adult-onset proximal spinal muscular atrophy | |
| Pontocerebellar hypoplasia type 12 | |
| Congenital muscular dystrophy-dystroglycanopathy type A12 | |
| Autosomal recessive limb-girdle muscular dystrophy type 2T | |
| Joubert syndrome with orofaciodigital defect | |
| Immunodeficiency with hyper IgM type 5 | |
| Seckel syndrome 8 | |
| Autosomal recessive spinocerebellar ataxia 26 | |
| female-restricted syndromic X-linked intellectual disability 99 | |
| jaw-winking syndrome | OMIM mapping confirmed by DO. [SN]. |
| Holoprosencephaly 5 | |
| Congenital muscular dystrophy 1B | |
| Oculopharyngodistal myopathy 1 | |
| Immunoglobulin heavy chain amyloidosis | |
| Parkinson's disease 3 | |
| Autosomal dominant limb-girdle muscular dystrophy type 3 | |
| Autosomal recessive limb-girdle muscular dystrophy type 2O | |
| Frontonasal dysplasia 1 | |
| Galloway-Mowat syndrome 5 | |
| Ectodermal dysplasia and immunodeficiency 2 | |
| Chromosome 14q11-q22 deletion syndrome | |
| ST2 diffuse large B-cell lymphoma | |
| Severe congenital encephalopathy due to MECP2 mutation | |
| Immunodeficiency 12 | |
| Familial febrile seizures 4 | |
| Childhood acute megakaryoblastic leukemia | |
| Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | |
| Vitamin D-dependent rickets type 1A | |
| Hypophosphatemic nephrolithiasis/osteoporosis 1 | |
| Fanconi renotubular syndrome 2 | |
| Vitamin D-dependent rickets type 2B | |
| Adult acute monocytic leukemia | |
| Serous labyrinthitis | A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections. |
| Hypermanganesemia with dystonia 1 | |
| Inflammatory bowel disease 10 | |
| Primary ciliary dyskinesia 20 | |
| X-linked exudative vitreoretinopathy 2 | |
| Thrombophilia due to HRG deficiency | |
| Breast large cell neuroendocrine carcinoma | |
| Dystonia 23 | |
| Chordoid glioma | |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | |
| Hereditary angioedema type III | |
| Afferent loop syndrome | |
| Noonan syndrome 2 | |
| Vulvar leiomyosarcoma | |
| Polycystic kidney disease 4 | |
| Diencephalic neoplasm | |
| Thalamic neoplasm | |
| Ovarian gonadoblastoma | |
| Central nervous system immature teratoma | |
| Adult type testicular granulosa cell tumor | |
| Testicular germ cell tumor non-seminomatous | |
| Chondroid chordoma | A chordoma that histologically derives_from chordoma, derives_from chondroma, and derives_from chondrosarcoma. |
| Diencephalic astrocytoma | |
| Macrotrabecular hepatoblastoma | |
| Prostate sarcoma | A prostate cancer that is located_in the prostate. |
| Partial third-nerve palsy | |
| Partial trisomy distal 4q | |
| Peritoneal benign neoplasm | An organ system benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom. |
| Pineal region germinoma | |
| Nasal cavity benign neoplasm | |
| Mullegama-Klein-Martinez syndrome | |
| Hypoplastic or aplastic tibia with polydactyly | |
| Congenital fibrosis of the extraocular muscles 1 | |
| Mirror agnosia | |
| Cataract 48 | |
| Dyshormonogenic goiter | |
| Thyroid malformation | |
| African iron overload | |
| Congenital myasthenic syndrome 1B | |
| Developmental and epileptic encephalopathy 33 | |
| Intrahepatic biliary papillomatosis | |
| Pontocerebellar hypoplasia type 2A | NT MGI. |
| Pediculus humanus corporis infestation | |
| Retinal cone dystrophy 3B | |
| Malignant ovarian cyst | |
| Esophagus sarcoma | |
| Tomato allergy | |
| Schizophrenia 19 | |
| Developmental and epileptic encephalopathy 66 | |
| Prostate stromal sarcoma | A stromal sarcoma and sarcoma of prostate and tumor of specialized prostatic stroma that is located_in the prostate. |
| Nephrotic syndrome type 20 | |
| Hemochromatosis type 2A | |
| Tetraamelia syndrome 2 | |
| Tooth and nail syndrome | A syndrome that affects the teeth, nails, hair, and/or skin. It is characterized by absence (hypodontia) and/or malformation of certain primary (deciduous) and secondary (permanent) teeth occurring in association with improper development of the nails, particularly the toenails. |
| Autosomal recessive spinocerebellar ataxia 18 | |
| scalp-ear-nipple syndrome | |
| Hypogonadotropic hypogonadism 3 with or without anosmia | |
| Coffin-Siris syndrome 4 | |
| Spermatogenic failure 11 | |
| X-linked panhypopituitarism | |
| Pemphigus gestationis | |
| Combined oxidative phosphorylation deficiency 26 | |
| Myofibrillar myopathy 4 | |
| Uterine inversion | |
| Sexual sadism | |
| Animal phobia | A specific phobia that involves a fear caused by the presence or thought of a specific animal that poses little or no danger at all. |
| Inhibited male orgasm | |
| Idiopathic generalized epilepsy 13 | |
| Palmoplantar keratoderma and congenital alopecia 2 | |
| Pituitary adenoma 3 | |
| Thiopental allergy | |
| Empty sella syndrome | |
| Lateral myocardial infarction | |
| Sexual masochism | |
| Histrionic personality disorder | A personality disorder that is characterized by a pattern of excessive emotionality and attention-seeking, including an excessive need for approval and inappropriately seductive behavior, usually beginning in early adulthood. |
| Anaerobic meningitis | |
| Congenital myasthenic syndrome 1A | |
| Breast juvenile papillomatosis | |
| Pyromania | An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive. |
| Subleukemic leukemia | |
| Cataract 28 | |
| Cataract 31 multiple types | |
| Bardet-Biedl syndrome 14 | |
| Pierpont syndrome | |
| BH4-deficient hyperphenylalaninemia B | |
| Chromosome 1q41-q42 deletion syndrome | |
| Anterior spinal artery syndrome | |
| dialysis-related amyloidosis | |
| homocystinuria-megaloblastic anemia cblG type | |
| Pontocerebellar hypoplasia type 9 | NT MGI. |
| Primary autosomal recessive microcephaly 13 | |
| Spermatogenic failure 5 | |
| Chondromalacia patellae | OMIM mapping confirmed by DO. [SN]. |
| Intramuscular hemangioma | |
| Uterine corpus sarcoma | An uterine corpus cancer that is located_in the muscles of the uterus or located_in other tissues that support the uterus. |
| Focal segmental glomerulosclerosis 2 | |
| Posterior polymorphous corneal dystrophy 4 | |
| Sphenoorbital meningioma | |
| Testicular Leydig cell tumor | |
| Testicular sex cord-stromal neoplasm | |
| Tympanosclerosis | |
| Tympanic membrane disease | |
| Adhesive otitis media | |
| Syndromic X-linked intellectual disability Raymond type | |
| X-linked intellectual developmental disorder 109 | |
| Autosomal dominant intellectual developmental disorder 44 | |
| Cornelia de Lange syndrome 4 | |
| Acute myeloid leukemia with BCR-ABL1 | |
| Myeloid leukemia associated with Down Syndrome | |
| Acute myeloid leukemia with mutated RUNX1 | |
| Type 1 diabetes mellitus 20 | |
| 46,XY sex reversal 7 | |
| Hypogonadotropic hypogonadism 5 with or without anosmia | |
| Bone leiomyosarcoma | |
| X-linked thrombophilia due to factor IX defect | |
| Dilated cardiomyopathy 1T | |
| Familial adult myoclonic epilepsy 6 | |
| Volkmann contracture | |
| Hematocele of tunica vaginalis testis | |
| Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | |
| Rhizomelic chondrodysplasia punctata type 3 | |
| Rhizomelic chondrodysplasia punctata type 2 | |
| deafness, dystonia, and cerebral hypomyelination | |
| Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia | |
| 46,XY sex reversal 3 | |
| Breast lipoma | |
| Rheumatic congestive heart failure | |
| X-linked deafness 7 | |
| Spinocerebellar ataxia type 20 | |
| Neurodevelopmental disorder with involuntary movements | |
| Distal arthrogryposis type 5 | |
| Growth hormone secreting pituitary adenoma 2 | |
| Nephronophthisis 12 | |
| Breast scirrhous carcinoma | |
| Mixed cell uveal melanoma | |
| Spondyloepimetaphyseal dysplasia, Missouri type | A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities. |
| near-fatal asthma | |
| Nemaline myopathy 8 | |
| Baritosis | |
| Malignant hemangioma | |
| Angiokeratoma of Fordyce | |
| Angiokeratoma of mibelli | |
| Angiokeratoma circumscriptum | |
| Congenital disorder of glycosylation Ib | |
| Brain small vessel disease 3 | |
| Distal 10q deletion syndrome | |
| Nasal cavity lymphoma | |
| Autosomal dominant intellectual developmental disorder 43 | |
| Patterned macular dystrophy 2 | |
| Early onset progressive encephalopathy with brain atrophy and thin corpus callosum | |
| Ritscher-Schinzel syndrome 2 | |
| Gastroduodenal Crohn's disease | |
| Granulomatous gastritis | |
| Necrotizing gastritis | |
| Persistent moderate asthma | |
| Gastric hemangioma | |
| Acquired gastric outlet stenosis | |
| Chronic duodenal ileus | |
| Bacterial gastritis | A gastritis that involves inflammation of the stomach lining caused by bacteria. The disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting. |
| Esophageal diverticulosis | |
| Amoxicillin allergy | |
| Angiodysplasia of intestine | |
| Fungal gastritis | |
| Acquired laryngomalacia | |
| Diclofenac allergy | |
| Oculogyric crisis | |
| Atrial heart septal defect 8 | |
| Psychologic vaginismus | |
| Psychologic dyspareunia | |
| Esophageal tuberculosis | A gastrointestinal tuberculosis that involves formation of tuberculous ulcers located_in esophagus. The infection has_symptom dysphagia, has_symptom cough, has_symptom chest pain, has_symptom fever and has_symptom weight loss. |
| Esophageal leukoplakia | |
| Neonatal candidiasis | A candidiasis that involves fungal infection in neonates caused by Candida species. Low birthweight and age, prolonged intravascular catheterization and the use of antibiotic drugs are the principle predisposing conditions for systemic candidiasis in neonates. |
| Hairy tongue | |
| Meier-Gorlin syndrome 3 | |
| Strawberry gallbladder | |
| Displacement of cardia through esophageal hiatus | |
| Renal hypomagnesemia 6 | |
| Scalp dermatosis | |
| Chronic inflammatory demyelinating polyneuritis | |
| Acute anterolateral myocardial infarction | |
| Primary autosomal recessive microcephaly 6 | |
| Benzylpenicillin allergy | |
| Esophagus melanoma | |
| Extracutaneous mastocytoma | |
| Barbiturate abuse | |
| Central nervous system origin vertigo | |
| Hemopneumothorax | |
| X-linked chondrodysplasia punctata 1 | |
| Laryngostenosis | |
| Folic acid deficiency anemia | |
| Beach ear | |
| Cefuroxime allergy | |
| Hypopigmentation of eyelid | |
| Epiglottis cancer | |
| Paget's disease of bone 5 | |
| Malignant giant cell tumor of soft parts | |
| Arthrogryposis multiplex congenita-4 | |
| X-linked spondyloepimetaphyseal dysplasia | |
| Femoral cancer | |
| short-rib thoracic dysplasia 14 with polydactyly | |
| Nodular tenosynovitis | |
| Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| Autosomal recessive limb-girdle muscular dystrophy type 2U | |
| Autosomal dominant limb-girdle muscular dystrophy type 1H | |
| Autosomal recessive limb-girdle muscular dystrophy type 2P | |
| Dilated cardiomyopathy 1G | |
| Yoon-Bellen neurodevelopmental syndrome | |
| Distal myopathy 4 | |
| Chronic polyneuropathy | |
| Atrophy of prostate | |
| Gastric papillary adenocarcinoma | |
| Parkinson's disease 2 | |
| Developmental and epileptic encephalopathy 56 | |
| Autosomal recessive chronic granulomatous disease 2 | |
| Periampullary adenoma | |
| Holoprosencephaly 12 | |
| Senile ectropion | |
| Spastic entropion | |
| Cataract 23 | |
| Janus kinase-3 deficiency | |
| DeSanto-Shinawi syndrome | |
| Amyotrophic lateral sclerosis type 12 | A type of ALS caused_by mutation located_in OPTN gene located_in chromosome 10. |
| Primary ciliary dyskinesia 43 | |
| Familial febrile seizures 6 | |
| Mansonelliasis | A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies. |
| Mixed oligodendroglioma-astrocytoma | |
| Primary ciliary dyskinesia 1 | |
| Congenital myasthenic syndrome 20 | |
| Primary autosomal recessive microcephaly 1 | |
| Geotrichosis | An opportunistic mycosis that has_material_basis_in Galactomyces geotrichum, results_in systemic infection in immunocompromised people. |
| Diamond-Blackfan anemia 10 | |
| Palladium allergic contact dermatitis | |
| Disseminated eosinophilic collagen disease | |
| Malt worker's lung | |
| Abacavir allergy | |
| Spondylometaepiphyseal dysplasia, short limb-hand type | |
| Conventional lipoma | |
| Congenital disorder of glycosylation Ii | |
| Chromosome 16p12.2-p11.2 deletion syndrome | |
| B-lymphoblastic leukemia/lymphoma with TCF3-PBX1 | |
| Anthracosilicosis | |
| Neurodegeneration with brain iron accumulation 6 | |
| Hereditary spastic paraplegia 48 | |
| Chorea gravidarum | |
| Septic myocarditis | |
| Medullomyoblastoma | |
| Charcot-Marie-Tooth disease axonal type 2N | |
| Multilocular clear cell renal cell carcinoma | |
| rosette-forming glioneuronal tumor | |
| Fallopian tube leiomyoma | |
| Giant cell glioblastoma | A glioblastoma multiforme that is characterized by a prevalence of bizarre, multinucleated giant cells. |
| Developmental and epileptic encephalopathy 18 | |
| Optic nerve astrocytoma | |
| Developmental and epileptic encephalopathy 87 | |
| Fallopian tube benign neoplasm | |
| Cowden syndrome 4 | |
| Multinodular and vacuolating neuronal tumor | |
| Orofaciodigital syndrome III | |
| Autosomal dominant intellectual developmental disorder 50 | |
| Familial focal epilepsy with variable foci 1 | |
| Orofaciodigital syndrome VII | |
| Congenital muscular dystrophy-dystroglycanopathy A7 | |
| Schizophrenia 13 | |
| Cerebral hemisphere lipoma | |
| Corpus callosum lipoma | |
| Myoclonic dystonia 11 | |
| Primary ciliary dyskinesia 18 | |
| Hepatocellular clear cell carcinoma | |
| Hydrarthrosis | |
| Anterior segment dysgenesis 6 | |
| cone-rod dystrophy 13 | |
| Bardet-Biedl syndrome 11 | |
| Vitreous abscess | |
| Immunodeficiency 31A | |
| Meier-Gorlin syndrome 4 | |
| Bilateral parasagittal parieto-occipital polymicrogyria | |
| Brittle cornea syndrome 2 | |
| Hyperekplexia 1 | |
| Brown-Vialetto-Van Laere syndrome 1 | |
| Classic dopamine transporter deficiency syndrome | |
| Neurodevelopmental disorder with eye movement abnormalities and ataxia | |
| Atypical dopamine transporter deficiency syndrome | |
| Parkinson's disease 1 | |
| Blue toe syndrome | |
| D-glyceric aciduria | |
| Psoriasis 11 | |
| CADASIL 1 | |
| Acute dacryocystitis | |
| platelet-type bleeding disorder 20 | |
| Combined oxidative phosphorylation deficiency 15 | |
| Spermatogenic failure 59 | |
| Type 1 diabetes mellitus 2 | |
| Ovarian endometrial cancer | |
| Complement component 2 deficiency | NT MGI. |
| Anemia of prematurity | |
| Toxic diffuse goiter | |
| Growth hormone insensitivity syndrome with immune dysregulation 1 | |
| Eunuchism | A hypogonadism that is characterized by the lack of mature male germ cells and testicular hormones. |
| Hermansky-Pudlak syndrome 7 | |
| Bone chondrosarcoma | |
| non-syndromic X-linked intellectual disability 21 | |
| Extraskeletal mesenchymal chondrosarcoma | |
| Cervical non-keratinizing squamous cell carcinoma | |
| Cervical keratinizing squamous cell carcinoma | |
| Immunodeficiency 55 | |
| Autosomal dominant nonsyndromic deafness 5 | |
| Chromosome 8q21.11 deletion syndrome | |
| Primary coenzyme Q10 deficiency 2 | |
| Acute thyroiditis | |
| Multicentric papillary thyroid carcinoma | |
| Thyroid hyalinizing trabecular adenoma | |
| Endocrine exophthalmos | |
| Spindle epithelial tumor with thymus-like differentiation tumor | |
| Tall cell variant papillary carcinoma | |
| Thyroid dyshormonogenesis 3 | |
| Thyroid gland mucoepidermoid carcinoma | |
| Congenital nongoitrous hypothyroidism 3 | |
| Constant exophthalmos | |
| Nonencapsulated sclerosing carcinoma | |
| Iodine hypothyroidism | |
| Trabecular follicular adenocarcinoma | |
| Neonatal diabetes mellitus with congenital hypothyroidism | |
| Mechanical entropion | |
| Mechanical strabismus | |
| Orbital tenonitis | |
| Intermittent proptosis | |
| Cyclotropia | |
| Immature teratoma of ovary | |
| Thyrotoxic exophthalmos | |
| Isthmus cancer | |
| Epiglottis neoplasm | |
| Vulvar keratinizing squamous cell carcinoma | |
| Heart leiomyosarcoma | |
| Sternum cancer | A bone cancer and neoplasm of chest wall and sternal disorder that is located_in the sternum. |
| Amyloid tumor | |
| Eye carcinoma | An ocular cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells and arises_from the tissues that cover structures located_in the eye. |
| Idiopathic generalized epilepsy 2 | |
| Patulous eustachian tube | A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection. |
| Immunodeficiency 65 | |
| Orofaciodigital syndrome V | |
| Radial nerve lesion | |
| Immunodeficiency 31C | |
| Retinitis pigmentosa 39 | |
| Basal ganglia cerebrovascular disease | |
| Posterolateral myocardial infarction | |
| Femoral neuropathy | |
| Transient retinal arterial occlusion | |
| Gynatresia | |
| Acute inferolateral myocardial infarction | |
| Primary ovarian insufficiency 19 | |
| Charcot-Marie-Tooth disease axonal type 2K | |
| Autosomal recessive distal hereditary motor neuronopathy 5 | |
| Charcot-Marie-Tooth disease dominant intermediate F | |
| Complex cortical dysplasia with other brain malformations 6 | |
| Developmental and epileptic encephalopathy 94 | |
| Myopathy of extraocular muscle | |
| Median neuropathy | |
| Autosomal recessive cutis laxa type IIIA | |
| Charcot-Marie-Tooth disease axonal type 2O | |
| Multiple epiphyseal dysplasia 4 | |
| Autosomal dominant intellectual developmental disorder 2 | |
| Nuclear senile cataract | |
| Trimethoprim allergy | |
| Leber congenital amaurosis 16 | |
| Microcephaly and chorioretinopathy 2 | |
| Renal hypomagnesemia 2 | |
| Type 1 diabetes mellitus 17 | |
| Hypotrichosis 12 | |
| Type 1 diabetes mellitus 15 | |
| Type 1 diabetes mellitus 12 | |
| Type 1 diabetes mellitus 6 | |
| Acute diffuse nephritis | |
| Agammaglobulinemia 7 | |
| Amyotrophic lateral sclerosis type 9 | A type of ALS caused_by mutation located_in ANG gene located_in chromosome 14. |
| Amyotrophic lateral sclerosis type 21 | |
| Retinitis pigmentosa 40 | |
| Facial nerve neoplasm | |
| Glossopharyngeal nerve neoplasm | |
| Autosomal dominant intellectual developmental disorder 23 | |
| Mandibular cancer | A jaw cancer and mandibular disease that affects your lower jawbone. |
| Renal artery obstruction | |
| Fanconi anemia complementation group G | |
| Lambda 5 deficiency | |
| Anterior compartment syndrome | |
| Septal myocardial infarction | |
| Dipetalonemiasis | A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis. |
| Myotonic cataract | |
| Muscular dystrophy-dystroglycanopathy type B14 | |
| Barbiturate dependence | A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance. |
| Combined oxidative phosphorylation deficiency 40 | |
| Indian tick typhus | |
| Familial febrile seizures 5 | |
| Spinocerebellar ataxia 46 | |
| Mediastinal lipomatosis | |
| Muscular dystrophy-dystroglycanopathy type B15 | |
| Pineal dysgerminoma | |
| Congenital myasthenic syndrome 16 | |
| Immunodeficiency 47 | |
| Astrakhan spotted fever | |
| Spinal muscular atrophy, Jokela type | |
| Anterolateral myocardial infarction | |
| Prostate rhabdomyosarcoma | A rhabdomyosarcoma and sarcoma of prostate that is located_in the prostate. |
| Congenital myopathy 22A | |
| Developmental and epileptic encephalopathy 17 | |
| Lumbosacral plexus lesion | |
| Oral rhabdomyosarcoma | |
| Tubular aggregate myopathy 1 | |
| X-linked spermatogenic failure 3 | |
| Combined oxidative phosphorylation deficiency 14 | |
| Peroxisome biogenesis disorder 14B | |
| Arthrogryposis multiplex congenita-5 | |
| Retinitis pigmentosa 57 | |
| Retinitis pigmentosa 59 | |
| Dysbaric osteonecrosis | An ischemic bone disease the has_material_basis_in nitrogen embolization located_in bone. |
| Ovarian serous cystadenofibroma | |
| Ovarian serous adenofibroma | |
| Fallopian tube adenofibroma | |
| Chronic salpingo-oophoritis | |
| 17-beta hydroxysteroid dehydrogenase 3 deficiency | |
| Female infertility of uterine origin | |
| Primary ovarian insufficiency 6 | |
| Medulloadrenal hyperfunction | |
| Hypotrichosis 5 | |
| Parovarian cyst | |
| Testicular gonadoblastoma | |
| 46,XY sex reversal 9 | |
| Binder syndrome | OMIM mapping confirmed by DO. [SN]. |
| Secondary hyperparathyroidism of renal origin | |
| Papillary adenofibroma | |
| Prolapse of urethra | |
| Fanconi anemia complementation group V | |
| Leukoplakia of penis | |
| Foveal hypoplasia 1 | |
| Distal arthrogryposis type 4 | |
| Olfactory groove meningioma | |
| Anterior cranial fossa meningioma | |
| Epidermolysis bullosa simplex Ogna type | |
| Dystonia 35, childhood-onset | |
| Intestinal disaccharidase deficiency | |
| X-linked intellectual disability-short stature-overweight syndrome | |
| non-syndromic X-linked intellectual disability 9 | |
| non-syndromic X-linked intellectual disability 92 | |
| Vulvar angiokeratoma | |
| Agammaglobulinemia 1 | |
| Fibrosclerosis of breast | |
| Localized pulmonary fibrosis | |
| Loeys-Dietz syndrome 5 | |
| Orofacial cleft 4 | |
| Nonphotosensitive trichothiodystrophy 6 | |
| Progressive pseudorheumatoid arthropathy of childhood | |
| Pulmonary venoocclusive disease 1 | |
| Autosomal dominant craniometaphyseal dysplasia | |
| contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B | |
| Double pterygium | |
| Parosteal osteosarcoma | |
| Retinitis pigmentosa 24 | |
| Solitary osseous plasmacytoma | |
| Sternum lymphoma | |
| Lung hilum cancer | |
| Hilar lung carcinoma | |
| Gallbladder lymphoma | |
| Infected hydrocele | |
| Paranasal sinus lymphoma | |
| high-grade B-cell lymphoma double-hit/triple-hit | |
| Jugular foramen meningioma | |
| Appendix lymphoma | |
| Heart lymphoma | |
| Ureteral lymphoma | |
| Tracheal lymphoma | |
| Thymus basaloid carcinoma | |
| Acute laryngopharyngitis | |
| Retinitis pigmentosa 50 | |
| Inflamed seborrheic keratosis | |
| Hepatic flexure cancer | |
| Mucoepidermoid esophageal carcinoma | |
| Mucinous cystadenocarcinoma of pancreas | |
| Cutaneous adenocystic carcinoma | |
| Gallbladder papillary carcinoma | |
| Rectum signet ring adenocarcinoma | |
| Fox-Fordyce disease | |
| Liver leiomyoma | |
| Intrahepatic bile duct cystadenoma | |
| Uterine cervix leukoplakia | |
| Diffuse peritoneal leiomyomatosis | |
| Mucocele of appendix | |
| Gallbladder carcinoma in situ | |
| Fallopian tube serous adenocarcinoma | |
| Chest wall lipoma | |
| Sebaceous breast carcinoma | |
| Central nervous system mature teratoma | |
| Pancreatic signet ring cell adenocarcinoma | |
| Eccrine mixed tumor of skin | |
| Lymphohistiocytoid mesothelioma | |
| Bile duct cystadenoma | |
| Ovarian fetiform teratoma | |
| Acute gonococcal endometritis | |
| Hypertrophic cardiomyopathy 6 | |
| Axillary lipoma | An organ system benign neoplasm located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue. |
| Retinitis pigmentosa 19 | |
| Gastric body carcinoma | |
| Larynx sarcoma | |
| Rectal lipoma | |
| Vagina leiomyoma | |
| Cecum lymphoma | |
| Duodenum adenoma | |
| Gallbladder sarcoma | A sarcoma that is located_in the gallbladder. |
| Esophagus lymphoma | |
| Malignant inflammatory fibrous histiocytoma | |
| Capillary lymphangioma | |
| Maxillary sinus benign neoplasm | |
| Neurofibroma of the esophagus | |
| Extrahepatic bile duct adenoma | |
| Central nervous system leiomyoma | |
| Endocervical type cervical mucinous adenocarcinoma | |
| Uterus leiomyosarcoma | |
| Colon leiomyosarcoma | |
| Leber congenital amaurosis 7 | |
| Leber congenital amaurosis 13 | |
| cone-rod dystrophy 11 | |
| Coffin-Siris syndrome 12 | |
| Extraocular retinoblastoma | A retinoblastoma that has spread from the soft tissues surrounding the eye or to the optic nerve beyond the margin of resection to other parts of the body. |
| Autosomal dominant intellectual developmental disorder 11 | |
| Nephronophthisis 13 | |
| Cranioectodermal dysplasia 4 | |
| Mixed epithelial stromal tumour | |
| Ectodermal dysplasia 10B | |
| Ectodermal dysplasia 10A | |
| Ectodermal dysplasia 11B | |
| Ectodermal dysplasia 11A | |
| cone-rod dystrophy 1 | |
| Idiopathic peripheral autonomic neuropathy | |
| Asphyxiating thoracic dystrophy 2 | |
| corticosteroid-binding globulin deficiency | |
| Familial erythrocytosis 6 | |
| Brachydactyly type A3 | |
| Lumbosacral lipoma | |
| Immunodeficiency 52 | |
| Heart sarcoma | A sarcoma and malignant neoplasm of heart that is located_in the heart. |
| Thyroid dyshormonogenesis 1 | |
| Cervical neuroblastoma | |
| Type 1 diabetes mellitus 11 | |
| Noonan syndrome-like disorder with loose anagen hair 1 | |
| Hemangioma of intra-abdominal structure | |
| non-syndromic X-linked intellectual disability 41 | |
| Parkinson's disease 21 | |
| Amelogenesis imperfecta hypomaturation type 2A3 | |
| Developmental and epileptic encephalopathy 6B | |
| Intracranial cavernous angioma | |
| Intracranial structure hemangioma | |
| Urethral false passage | |
| Advanced sleep phase syndrome 2 | |
| Oculocutaneous albinism type IB | |
| Spindle cell liposarcoma | |
| Split hand-foot malformation 1 | |
| Noonan syndrome 9 | |
| Myeloproliferative disorder with eosinophilia | |
| Lissencephaly 7 with cerebellar hypoplasia | |
| Exudative vitreoretinopathy 1 | |
| Dilated cardiomyopathy 1JJ | |
| Alzheimer's disease 10 | |
| Juvenile pilocytic astrocytoma | |
| Extracranial neuroblastoma | |
| Cleft palate, cardiac defects, and intellectual disabillity | |
| Developmental and epileptic encephalopathy 69 | |
| Familial episodic pain syndrome 2 | |
| Combined oxidative phosphorylation deficiency 5 | |
| Angioma serpiginosum | Angioma serpiginosum is a skin condition in which there are small blood vessels near the skin surface. It presents as small red dots (puncta) that cluster together to form a linear or snake-like array (serpiginous pattern) or ring-shaped (gyrate) pattern. There is no bleeding, inflammation or pigmentation. |
| Medulloblastoma SHH activated | |
| Congenital stationary night blindness 1E | |
| Chronic follicular conjunctivitis | |
| rhabdomyolysis-myalgia syndrome | |
| Childhood liposarcoma | |
| Lower lip cancer | |
| Developmental and epileptic encephalopathy 65 | |
| Pontocerebellar hypoplasia type 15 | |
| Autosomal recessive intellectual developmental disorder 43 | |
| Parkinson's disease 17 | |
| Autosomal dominant intellectual developmental disorder 48 | |
| Cataract 14 multiple types | |
| Hypomyelinating leukodystrophy 8 | |
| Facioscapulohumeral muscular dystrophy 3 | |
| Hypotrichosis 11 | |
| Ectodermal dysplasia 4 | |
| Hypotrichosis 7 | |
| Hypotrichosis 6 | |
| Malignant renovascular hypertension | |
| Malignant secondary hypertension | |
| pyridoxine-responsive sideroblastic anemia | OMIM mapping confirmed by DO. [LS]. |
| DIC in newborn | |
| Endometriosis of intestine | |
| Mitochondrial DNA depletion syndrome 8b | |
| Mitochondrial DNA depletion syndrome 8a | |
| Mitochondrial DNA depletion syndrome 11 | |
| Mitochondrial DNA depletion syndrome 14 | |
| Meckel syndrome 5 | |
| Adult cystic nephroma | |
| Miliaria pustulosa | |
| Acute myeloid leukemia with MLL rearrangement | |
| maturity-onset diabetes of the young type 14 | |
| maturity-onset diabetes of the young type 11 | |
| Munchausen by proxy | A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others. |
| Muscular dystrophy-dystroglycanopathy type B4 | |
| Congenital muscular dystrophy-dystroglycanopathy type A10 | |
| Muscular dystrophy-dystroglycanopathy type C12 | |
| Congenital dyserythropoietic anemia type Ib | |
| Ataxia with oculomotor apraxia type 3 | |
| Neuronal ceroid lipofuscinosis 8 | |
| Amyotrophic lateral sclerosis type 19 | A type of ALS caused_by mutation located_in ERBB4 gene located_in chromosome 2. |
| Spinocerebellar ataxia type 21 | |
| Neuronal ceroid lipofuscinosis 4 | |
| Primary coenzyme Q10 deficiency 4 | |
| Primary coenzyme Q10 deficiency 3 | |
| Primary coenzyme Q10 deficiency 5 | |
| Coffin-Siris syndrome 10 | |
| Giant axonal neuropathy 2 | |
| Holoprosencephaly 4 | |
| Autosomal recessive nonsyndromic deafness 66 | |
| Autosomal recessive nonsyndromic deafness 83 | |
| Retinitis pigmentosa 83 | |
| Autosomal dominant nonsyndromic deafness 6 | |
| Autosomal recessive nonsyndromic deafness 32 | |
| Autosomal recessive nonsyndromic deafness 115 | |
| High myopia-sensorineural deafness syndrome | |
| Fraser syndrome 2 | |
| Hydrops of gallbladder | |
| Developmental cardiac valvular defect | |
| Chromosome 5p13 duplication syndrome | |
| Discrete subaortic stenosis | |
| Primary autosomal recessive microcephaly 12 | |
| Waardenburg syndrome type 2B | |
| Acute frontal sinusitis | A frontal sinusitis which lasts for less than 4 weeks. |
| Stenosis of lacrimal passage | |
| Acquired tear duct stenosis | |
| Myeloid and lymphoid neoplasms associated with PDGFRA rearrangement | |
| Acute myeloid leukemia with t(6;9) (p23;q34.1) | |
| Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 | |
| Exudative glomerulonephritis | |
| Uvulitis | |
| Acute transudative otitis media | A non-suppurative otitis media and eustachian tube disorder with a sudden onset and a short course. |
| Clivus meningioma | |
| Sclerosing liposarcoma | |
| Malignant gastric germ cell tumor | |
| Contact blepharoconjunctivitis | |
| Hypertension and brachydactyly syndrome | |
| Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | |
| Retinitis pigmentosa 75 | |
| Intracranial berry aneurysm 12 | |
| Hodgkin's paragranuloma | |
| Autosomal dominant intellectual developmental disorder 29 | |
| Mixed type thymoma | |
| Renal infectious disease | |
| Refractory T lymphoblastic leukemia/lymphoma | |
| Ectodermal dysplasia 13 | |
| Blepharocheilodontic syndrome 2 | |
| Central nervous system lipoma | |
| Leg dermatosis | |
| Monofixation syndrome | |
| Developmental and epileptic encephalopathy 24 | |
| Familial temporal lobe epilepsy 2 | |
| Bone epithelioid hemangioma | |
| Diamond-Blackfan anemia 20 | |
| Combined oxidative phosphorylation deficiency 33 | |
| Essential tremor 2 | |
| Epidermolytic acanthoma | |
| Cherry allergy | |
| Snail allergy | |
| Mollusc allergy | |
| Nephronophthisis 3 | |
| Overhydrated hereditary stomatocytosis | |
| Focal segmental glomerulosclerosis 5 | |
| Spastic ataxia 2 | |
| Childhood supratentorial ependymoma | |
| Ectodermal dysplasia 14 | |
| Syndromic X-linked intellectual developmental disorder bain type | |
| Occipital lobe neoplasm | |
| Alzheimer's disease 12 | |
| Isolated microphthalmia 1 | |
| Type 1 diabetes mellitus 22 | |
| Skin carcinoma in situ | A carcinoma in situ that is characterized by the spread of cancer in skin and the lack of invasion of surrounding tissues. |
| Congenital fibrosis of the extraocular muscles 3A | |
| Nemaline myopathy 4 | |
| Ehlers-Danlos syndrome arthrochalasia type 2 | |
| Anauxetic dysplasia 1 | |
| Complement component 6 deficiency | NT MGI. |
| Autosomal recessive intellectual developmental disorder 41 | |
| Apolipoprotein A-IV associated amyloidosis | |
| Cornelia de Lange syndrome 5 | |
| Multiple epiphyseal dysplasia 7 | |
| Retinitis pigmentosa 27 | |
| X-linked deafness 6 | |
| Alzheimer's disease 19 | |
| Isolated anhidrosis with normal sweat glands | |
| Klippel-Feil syndrome 2 | |
| Infantile hypotonia with psychomotor retardation and characteristic facies-3 | |
| Paraneoplastic polyneuropathy | |
| Autotopagnosia | |
| Retinitis pigmentosa 67 | |
| Lethal congenital contracture syndrome 4 | |
| Thymus squamous cell carcinoma | |
| Ectodermal dysplasia 5 | |
| Ectodermal dysplasia 6 | |
| Ectodermal dysplasia 7 | |
| Familial hyperinsulinemic hypoglycemia 4 | |
| Combined oxidative phosphorylation deficiency 11 | |
| Complement factor I deficiency | OMIM mapping confirmed by DO. [SN]. |
| Autosomal dominant intellectual developmental disorder 36 | |
| Osteosclerotic myeloma | |
| Mechanical ectropion | |
| Echinostomiasis | A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain. |
| Juxtacortical chondrosarcoma | |
| Mediastinum neuroblastoma | |
| Malignant mediastinal neurogenic neoplasm | |
| Adult epithelioid sarcoma | |
| astroblastoma, MN1-altered | |
| Malignant glandular tumor of peripheral nerve sheath | |
| Hypogonadotropic hypogonadism 7 with or without anosmia | |
| Oxirane allergy | |
| Common variable immunodeficiency 12 | |
| Malignant adenofibroma | |
| 1-chloro-2,4-dinitrobenzene allergic contact dermatitis | |
| Glioblastoma neural subtype | |
| Chromium allergic contact dermatitis | |
| Esophagus carcinoma in situ | |
| Toxicodendron dermatitis | |
| Episcleritis periodica fugax | |
| Autosomal recessive cutis laxa type IID | |
| Multiple mitochondrial dysfunctions syndrome 6 | |
| Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | |
| Syndromic X-linked intellectual disability Hedera type | |
| Facioscapulohumeral muscular dystrophy 4 | |
| short-rib thoracic dysplasia 8 with or without polydactyly | |
| Immunodeficiency 32A | |
| Isolated cryptophthalmia | |
| Joubert syndrome 33 | |
| Autosomal recessive nonsyndromic deafness 100 | |
| Primary ciliary dyskinesia 5 | |
| non-syndromic X-linked intellectual disability 97 | |
| Congenital disorder of glycosylation Ig | |
| BCOR-CCNB3 sarcoma | |
| Esophagus verrucous carcinoma | |
| Bone squamous cell carcinoma | |
| Complement component 9 deficiency | NT MGI. |
| Spondylometaphyseal dysplasia with corneal dystrophy | |
| Hyperlipoproteinemia type V | OMIM mapping confirmed by DO. [SN]. |
| alopecia-mental retardation syndrome 1 | |
| Parotid gland adenoid cystic carcinoma | |
| Autosomal recessive distal hereditary motor neuronopathy 2 | |
| Postural kyphosis | |
| Age related macular degeneration 15 | |
| Molybdenum cofactor deficiency type B | |
| Cataract 34 multiple types | |
| Autosomal recessive craniometaphyseal dysplasia | |
| Nemaline myopathy 7 | |
| Autosomal recessive nonsyndromic deafness 62 | |
| Bone angioendothelial sarcoma | |
| Congenital muscular dystrophy-dystroglycanopathy type A9 | |
| Primary coenzyme Q10 deficiency 7 | |
| Miura type epiphyseal chondrodysplasia | |
| Bardet-Biedl syndrome 6 | |
| Brain stem astrocytic neoplasm | |
| platelet-type bleeding disorder 19 | |
| Trachea leiomyoma | |
| Joubert syndrome 32 | |
| Adult central nervous system embryonal tumor | |
| Holzgreve-Wagner-Rehder Syndrome | |
| Hydrolethalus syndrome 2 | |
| Persistent mild asthma | |
| Soft palate cancer | |
| Combined oxidative phosphorylation deficiency 16 | |
| contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | |
| Maxillary sinus adenocarcinoma | |
| Childhood meningioma | |
| Immunodeficiency 49 | |
| External ear basal cell carcinoma | |
| Inflammatory bowel disease 18 | |
| External ear cancer | |
| Autoimmune lymphoproliferative syndrome type 3 | |
| Immunodeficiency 27A | |
| null-cell leukemia | |
| Orbital osteomyelitis | |
| Hereditary spastic paraplegia 32 | |
| Inflammatory bowel disease 4 | |
| Nephrotic syndrome type 9 | |
| Focal segmental glomerulosclerosis 7 | |
| Spermatogenic failure 64 | |
| Spermatogenic failure 3 | |
| Spermatogenic failure 7 | |
| Spermatogenic failure 17 | |
| Spermatogenic failure 4 | |
| Spermatogenic failure 12 | |
| Spermatogenic failure 13 | |
| Spermatogenic failure 2 | |
| Spermatogenic failure 18 | |
| Spermatogenic failure 6 | |
| Age related macular degeneration 7 | |
| Ventriculomegaly - cystic kidney disease | |
| Ovarian dysgenesis 1 | |
| Familial renal oncocytoma | |
| Linear skin defects with multiple congenital anomalies 3 | |
| Linear skin defects with multiple congenital anomalies 2 | |
| Adult brain stem glioma | |
| Myeloid and lymphoid neoplasms associated with FGFR1 abnormalities | |
| Inflammatory bowel disease 23 | |
| Primary ciliary dyskinesia 13 | |
| Hydroxykynureninuria | |
| Familial adult myoclonic epilepsy 3 | |
| immunodeficiency-centromeric instability-facial anomalies syndrome 2 | |
| Syndromic X-linked intellectual disability Nascimento type | |
| non-syndromic X-linked intellectual disability 93 | |
| Inflammatory poikiloderma with hair abnormalities and acral keratoses | |
| CAKUT1 | |
| Spinocerebellar ataxia type 25 | |
| Spinocerebellar ataxia type 40 | |
| Patterned macular dystrophy 1 | |
| ego-dystonic sexual orientation | |
| Acquired color blindness | |
| Charcot-Marie-Tooth disease type 5 | |
| Seckel syndrome 7 | |
| Orofaciodigital syndrome IX | |
| cone-rod dystrophy 20 | |
| Anterior segment dysgenesis 3 | |
| Amelogenesis imperfecta type 1A | |
| Amelogenesis imperfecta hypomaturation type 2A2 | |
| Mitochondrial DNA depletion syndrome 12b | |
| Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | |
| Middle ear squamous cell carcinoma | A middle ear carcinoma that has_material_basis_in squamous cells. |
| Autosomal dominant hyaline body myopathy | |
| Developmental and epileptic encephalopathy 43 | |
| Developmental and epileptic encephalopathy 35 | |
| Squamous blepharitis | |
| Mixed cell adenoma | |
| Bronchiectasis 2 | |
| cranio-facial dystonia | A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck. |
| Ureteric orifice cancer | |
| Primary autosomal recessive microcephaly 15 | |
| Ehlers-Danlos syndrome dermatosparaxis type | |
| Chromosome 16p11.2 deletion syndrome, 593-kb | |
| Apricot allergy | |
| Extraosseous Ewings sarcoma-primitive neuroepithelial tumor | |
| Pleural lipoma | |
| Age related macular degeneration 13 | |
| Central nervous system leiomyosarcoma | |
| Silo filler's disease | |
| Bagassosis | An extrinsic allergic alveolitis that is an industrial disease characterized by cough, difficult breathing, chills, fever, and prolonged weakness caused by the inhalation of the dust of bagasse containing thermophilic actinomycetes. |
| Aztreonam allergy | |
| Atopic dermatitis 7 | |
| Trichostrongyloidiasis | A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea. |
| Cefaclor allergy | |
| Alzheimer's disease 16 | |
| Basophil adenoma | |
| Pylorus cancer | |
| Abnormality of glucagon secretion | |
| Combined oxidative phosphorylation deficiency 8 | |
| Frontometaphyseal dysplasia 1 | |
| Diffuse alopecia areata | |
| Smith-McCort dysplasia 2 | |
| Gonococcal keratitis | |
| Goat milk allergy | |
| Paralytic lagophthalmos | |
| Conjunctival folliculosis | |
| Internal hordeolum | |
| Spindle cell intraocular melanoma | |
| Hereditary nonpolyposis colorectal cancer type 5 | |
| Ovarian malignant mesothelioma | |
| Hereditary nonpolyposis colorectal cancer type 6 | |
| Cervical endometrioid adenocarcinoma | |
| Cervical lymphoepithelioma-like carcinoma | |
| Autosomal dominant intellectual developmental disorder 8 | |
| Fallopian tube endometrioid adenocarcinoma | |
| Cervical adenoma malignum | |
| Rete ovarii adenocarcinoma | |
| Pontocerebellar hypoplasia type 11 | |
| Cerebellar angioblastoma | |
| Congenital stationary night blindness autosomal dominant 3 | |
| Abnormal threshold of rods | |
| Familial focal epilepsy with variable foci 3 | |
| Joubert syndrome 7 | |
| Retinitis pigmentosa 58 | |
| Supratentorial meningioma | |
| Combined oxidative phosphorylation deficiency 51 | |
| Cerebral primitive neuroectodermal tumor | |
| Adult brainstem astrocytoma | |
| Fanconi anemia complementation group O | |
| Diffuse glioma, H3 G34 mutant | |
| Hereditary spastic paraplegia 19 | |
| Retinitis pigmentosa 77 | |
| Nuclear type mitochondrial complex I deficiency 16 | |
| Developmental and epileptic encephalopathy 99 | |
| Combined oxidative phosphorylation deficiency 44 | |
| Infantile histiocytoid cardiomyopathy | |
| Pontocerebellar hypoplasia type 13 | |
| X-linked epilepsy with variable learning disabilities and behavior disorders | |
| Autosomal recessive nonsyndromic deafness 88 | |
| Zygodactyly 1 | |
| Spondylometaphyseal dysplasia corner fracture type | |
| Spondyloepiphyseal dysplasia Nishimura type | |
| Common peroneal nerve lesion | |
| Inner ear cancer | |
| Internal auditory canal meningioma | |
| Autosomal recessive thrombophilia due to protein C deficiency | |
| Split hand-foot malformation 5 | |
| Hermansky-Pudlak syndrome 5 | |
| Treacher Collins syndrome 3 | |
| X-linked spinocerebellar ataxia 3 | |
| X-linked spinocerebellar ataxia 4 | |
| Acute dacryoadenitis | |
| Chronic dacryoadenitis | |
| Inflammatory bowel disease 29 | |
| Bicipital tenosynovitis | |
| Chronic lacrimal gland enlargement | |
| Sulfasalazine allergy | |
| Purulent acute otitis media | A suppurative otitis media with sudden onset and a short course. |
| Focal segmental glomerulosclerosis 9 | |
| Glomeruloid hemangioma | |
| Kidney osteogenic sarcoma | A kidney sarcoma that starts in the bones and that is located_in the kidney. |
| Developmental and epileptic encephalopathy 97 | |
| Acidophil adenoma | |
| Pulsating exophthalmos | |
| Sarcomatoid transitional cell carcinoma | A transitional cell carcinoma that has sarcoma-like components arising from the malignant transitional epithelium. |
| Diamond-Blackfan anemia 12 | |
| Inflammatory bowel disease 14 | |
| Developmental and epileptic encephalopathy 75 | |
| Inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 | |
| Neuronal ceroid lipofuscinosis 6B | |
| Juvenile myoclonic epilepsy 4 | |
| Inflammatory bowel disease 13 | |
| Childhood testicular germ cell tumor | |
| Thyroid dyshormonogenesis 5 | |
| Pulmonary plasma cell granuloma | |
| Subacute leukemia | |
| Idiopathic progressive polyneuropathy | |
| Suppurative uveitis | |
| Conjunctival deposit | |
| Congenital bile acid synthesis defect 1 | |
| Cataract 7 | |
| Epicardium cancer | |
| Methylmalonic aciduria and homocystinuria type cblF | |
| Ullrich congenital muscular dystrophy 2 | |
| Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies | |
| Spermatogenic failure 31 | |
| Oblique facial clefting 1 | |
| Ankylosing spondylitis 1 | |
| Polycystic kidney disease 5 | |
| Tetanic cataract | |
| Microcephaly and chorioretinopathy 1 | |
| Ankylosing spondylitis 3 | |
| Plasmodium ovale malaria | A malaria characaterized as a relatively mild form caused by a parasite Plasmodium ovale, which is characterized by tertian chills and febrile paroxysms, and that ends spontaneously. |
| Uterine adnexa cancer | |
| Peroxisome biogenesis disorder 11A | |
| Hereditary lymphedema IA | |
| hypertelorism, microtia, facial clefting syndrome | |
| Infiltrating angiolipoma | |
| Benign mastocytoma | |
| Prostate angiosarcoma | |
| Retroperitoneal hemangiopericytoma | |
| early-onset vitamin B6-dependent epilepsy 1 | |
| Nemaline myopathy 3 | |
| Neurogenic scapuloperoneal syndrome Kaeser type | |
| Arthrogryposis multiplex congenita-3 | |
| Retinitis pigmentosa 74 | |
| Congenital symblepharon | |
| Partial cryptophthalmia | |
| Thelaziasis | |
| Alzheimer's disease 7 | |
| Hereditary spastic paraplegia 38 | |
| Pineal gland astrocytoma | |
| Form agnosia | An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details. |
| Progressive myoclonus epilepsy 1B | |
| Developmental and epileptic encephalopathy 63 | |
| Bronchiectasis 1 | |
| Heimler syndrome 2 | |
| Papillary squamous carcinoma | |
| Cervical adenoid basal carcinoma | |
| Palmoplantar keratoderma and congenital alopecia 1 | |
| Alzheimer's disease 9 | |
| Mixed cerebral palsy | |
| SHOX-related short stature | |
| Developmental and epileptic encephalopathy 102 | |
| Acute myeloid leukemia with biallelic mutation of CEBPA | |
| Prostate embryonal rhabdomyosarcoma | A prostate rhabdomyosarcoma that is most common in children. |
| Bile duct rhabdomyosarcoma | |
| Mediastinal mesenchymal tumor | |
| Myocardium cancer | |
| Vagina leiomyosarcoma | |
| Ovarian mesodermal adenosarcoma | |
| Parietal lobe neoplasm | |
| Pineal region teratoma | |
| Adult malignant schwannoma | |
| Round cell sarcoma with EWSR1-PATZ1 gene fusion | |
| Liposarcoma of bone | |
| Orbit embryonal rhabdomyosarcoma | |
| Vagina sarcoma | |
| Round cell sarcoma with EWSR1-non-ETS fusion | |
| Hereditary spastic paraplegia 51 | |
| Joubert syndrome 9 | |
| Meckel syndrome 6 | |
| Ovarian endometrioid stromal sarcoma | |
| Ovary sarcoma | |
| Immunodeficiency 53 | |
| Tonsillar pillar cancer | |
| Type 1 diabetes mellitus 3 | |
| Peroxisome biogenesis disorder 1A | |
| early-onset epilepsy 2 | |
| Charcot-Marie-Tooth disease X-linked recessive 2 | |
| Autosomal dominant intellectual developmental disorder 52 | |
| Neurodevelopmental disorder with speech impairment and dysmorphic facies | |
| Immunodeficiency 25 | |
| Acute myeloid leukemia with t(1;22)(p13;q13) | |
| Vulvar syringoma | |
| short-rib thoracic dysplasia 11 with or without polydactyly | |
| Orofacial cleft 8 | |
| Catecholaminergic polymorphic ventricular tachycardia 3 | |
| brachycephaly, trichomegaly, and developmental delay | |
| Meckel syndrome 7 | |
| Joubert syndrome 14 | |
| Familiar ovarian carcinoma | |
| Spinal cord lipoma | |
| Optic atrophy 6 | |
| Molybdenum cofactor deficiency type C | |
| Female breast nipple and areola cancer | |
| Atrial standstill 1 | |
| Rocuronium allergy | |
| Y-linked deafness 2 | |
| Anal gland neoplasm | |
| non-syndromic X-linked intellectual disability 89 | |
| Mandibuloacral dysplasia type A lipodystrophy | |
| Inflammatory bowel disease 30 | |
| Basilicata-Akhtar syndrome | |
| Essential tremor 4 | |
| Spastic ataxia 3 | |
| Petrous apex meningioma | |
| hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | |
| Coffin-Siris syndrome 5 | |
| Giant axonal neuropathy 1 | |
| Spinocerebellar ataxia type 4 | |
| short-rib thoracic dysplasia 13 with or without polydactyly | |
| short-rib thoracic dysplasia 7 with or without polydactyly | |
| Joubert syndrome 6 | |
| Congenital disorder of glycosylation Iy | |
| Developmental and epileptic encephalopathy 82 | |
| Neurobehavioral disorder with prenatal alcohol exposure | |
| Brain small vessel disease 2 | |
| Ectodermal dysplasia 12 | |
| Congenital myasthenic syndrome 17 | |
| Otospondylomegaepiphyseal dysplasia, autosomal dominant | |
| Hereditary spherocytosis type 4 | |
| Inflammatory bowel disease 16 | |
| Noonan syndrome with multiple lentigines 3 | |
| Cranioectodermal dysplasia 2 | |
| Syndactyly type 5 | Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits. |
| Trichorhinophalangeal syndrome type III | |
| Trichostrongylosis | A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia. |
| Mitochondrial complex III deficiency nuclear type 2 | |
| Osteogenesis imperfecta type 18 | |
| Autosomal dominant dystrophic epidermolysis bullosa | |
| Zebrafish allergy | |
| 3MC syndrome 2 | |
| Primary autosomal dominant microcephaly 18 | |
| Essential tremor 3 | |
| Distal arthrogryposis type 6 | |
| Familial hyperinsulinemic hypoglycemia 2 | |
| Primary autosomal recessive microcephaly 11 | |
| Congenital myasthenic syndrome 18 | |
| Branchiootorenal syndrome 2 | |
| Multiple epiphyseal dysplasia with myopia and deafness | |
| Frontal sinus inverted papilloma | |
| Frontal sinus benign neoplasm | |
| Paranasal sinus benign neoplasm | |
| Rete testis adenoma | |
| Congenital stationary night blindness 1D | |
| Intestinal hypomagnesemia 1 | |
| Angular blepharoconjunctivitis | |
| Liver carcinoma in situ | |
| Anterior foramen magnum meningioma | |
| Viral laryngitis | |
| Neurodevelopmental disorder with spasticity and poor growth | |
| Autosomal recessive distal hereditary motor neuronopathy 8 | |
| Asymmetric motor neuropathy | |
| Peripheral nerve schwannoma | |
| Peroxisome biogenesis disorder 1B | |
| Inferolateral myocardial infarct | |
| Developmental and epileptic encephalopathy 41 | |
| Developmental and epileptic encephalopathy 34 | |
| Leydig cell hypoplasia type II | |
| Late congenital syphilis | A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities. |
| Spondyloepimetaphyseal dysplasia with joint laxity type 3 | |
| Medulloblastoma SHH activated and TP53 wild-type | |
| Medulloblastoma WNT activated | |
| Autosomal dominant thrombophilia due to protein C deficiency | |
| Congenital nystagmus 6 | |
| Autosomal recessive limb-girdle muscular dystrophy type 2Z | |
| Developmental and epileptic encephalopathy 85 | |
| Generalized epilepsy with febrile seizures plus 7 | |
| Spermatic cord cancer | |
| Pulmonary vein leiomyosarcoma | |
| Gliofibroma | |
| Classic pulmonary blastoma | |
| Bladder leiomyoma | |
| Familial hypertryptophanemia | |
| Breast granular cell tumor | |
| Balloon cell malignant melanoma | |
| Diplegia of upper limb | |
| Grade III lymphomatoid granulomatosis | |
| Vulvar granular cell tumor | |
| Frontal convexity meningioma | |
| Cutaneous liposarcoma | |
| Malignant histiocytic disease | |
| Pancreas sarcoma | |
| Cobblestone retinal degeneration | |
| Vaginal carcinosarcoma | |
| Ceftriaxone allergy | |
| Paraurethral gland cancer | |
| Colon leiomyoma | |
| Esophagus leiomyoma | |
| Focal segmental glomerulosclerosis 8 | |
| Subacute delirium | |
| cone-rod dystrophy 22 | |
| Immunodeficiency 34 | |
| Type 1 diabetes mellitus 24 | |
| Common variable immunodeficiency 7 | |
| Common variable immunodeficiency 5 | |
| Common variable immunodeficiency 6 | |
| Testis sarcoma | |
| Nipple benign neoplasm | |
| Subareolar duct papillomatosis | |
| Thymus sarcomatoid carcinoma | |
| Penile urethral cancer | |
| Testicular fibroma | |
| Adenosquamous breast carcinoma | |
| Epididymis adenocarcinoma | An epididymis cancer that derives_from epithelial cells of glandular origin. |
| Thymus clear cell carcinoma | |
| Laryngeal adenoid cystic carcinoma | |
| Liver fibroma | |
| Malignant giant cell tumor of the tendon sheath | |
| Hereditary lymphedema IC | |
| Dilated cardiomyopathy 1O | |
| D-2-hydroxyglutaric aciduria 1 | |
| Residual stage of open angle glaucoma | |
| ataxia-oculomotor apraxia type 4 | |
| Focal segmental glomerulosclerosis 6 | |
| Stress polycythemia | |
| Type 1 diabetes mellitus 19 | |
| Fallopian tube clear cell adenocarcinoma | |
| Bladder urothelial papillary carcinoma | |
| Developmental and epileptic encephalopathy 49 | |
| Developmental and epileptic encephalopathy 46 | |
| Optic atrophy 7 | |
| Ostertagiasis | A trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus Ostertagia. |
| Essential tremor 6 | |
| Retinitis pigmentosa 23 | |
| Larynx squamous papilloma | |
| Spastic monoplegia | |
| Posterior dislocation of lens | |
| non-syndromic X-linked intellectual disability 72 | |
| Cornelia de Lange syndrome 2 | |
| Sarcomatosis of the meninges | |
| Spinal cord oligodendroglioma | |
| Deep leiomyoma | |
| Developmental and epileptic encephalopathy 19 | |
| Granular cell tumor of the sellar region | |
| Central nervous system fibrosarcoma | |
| Cerebellopontine angle primitive neuroectodermal tumor | |
| Smith-McCort dysplasia 1 | |
| Autosomal recessive intellectual developmental disorder 59 | |
| Sarcoid meningitis | |
| X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance | |
| Spinocerebellar ataxia 44 | |
| Joubert syndrome 4 | |
| Ovarian clear cell adenofibroma | |
| non-invasive bladder urothelial carcinoma | |
| Thymus mucoepidermoid carcinoma | |
| mixed-type liposarcoma | |
| Myxoid liposarcoma of the ovary | |
| Liposarcoma of the ovary | |
| Inflammatory liposarcoma | |
| Chromosome 15q26-qter deletion syndrome | |
| Dystonia 32 | |
| Torsion dystonia 2 | |
| Dystonia 25 | |
| Dystonia 5 | |
| Torsion dystonia 4 | |
| Dystonia 24 | |
| Conjunctival concretion | |
| Functionless pituitary adenoma | |
| Akinetopsia | |
| Coffin-Siris syndrome 6 | |
| Primary coenzyme Q10 deficiency 1 | |
| Adult infiltrating astrocytic neoplasm | |
| Scirrhous adenocarcinoma | An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma. |
| Methylmalonic acidemia and homocysteinemia cblX type | |
| cold-induced sweating syndrome 3 | |
| Gastric leiomyosarcoma | |
| Developmental and epileptic encephalopathy 12 | |
| Achenbach syndrome | |
| Ureter tuberculosis | |
| Early congenital syphilis | |
| Lateral ventricle meningioma | |
| Synovial angioma | |
| Mushroom workers' lung | |
| Femoral vein thrombophlebitis | |
| Dientamoebiasis | |
| Meropenem allergy | |
| Atopic dermatitis 9 | |
| Toxic labyrinthitis | |
| Vaginal adenosarcoma | A vaginal carcinosarcoma derives_from the glands that line the uterus. |
| Diphthamide deficiency syndrome 2 | |
| Mitochondrial complex IV deficiency nuclear type 4 | |
| Acute salpingo-oophoritis | |
| Autosomal dominant intellectual developmental disorder 51 | |
| Hereditary spastic paraplegia 72A | |
| Hereditary spastic paraplegia 14 | |
| Hereditary spastic paraplegia 25 | |
| Cervix melanoma | |
| Brain oligodendroglioma | A brain glioma that has_material_basis_in oligodendrocytes. |
| Hereditary mixed polyposis syndrome 2 | |
| Central nervous system hemangioma | |
| Retinitis pigmentosa 31 | |
| Perineocele | |
| Small intestine leiomyoma | |
| Gastric liposarcoma | |
| Small intestinal sarcoma | A sarcoma and malignant tumor of small intestine that is located_in the small intestine. |
| Hypogonadotropic hypogonadism 16 with or without anosmia | |
| Medulloblastoma non-WNT/non-SHH | |
| Fanconi renotubular syndrome 1 | |
| Retinitis pigmentosa 63 | |
| Tibial nerve palsy | |
| Syndromic microphthalmia 13 | |
| Familial benign fleck retina | |
| Kidney liposarcoma | |
| Clivus chondroid chordoma | |
| Lipoma of spermatic cord | |
| Paratesticular lipoma | |
| Breast leiomyoma | |
| Simple partial epilepsy | |
| Esophagus liposarcoma | |
| Fibroblastic liposarcoma | |
| Anterior segment dysgenesis 2 | |
| Anterior segment dysgenesis 4 | |
| Isolated microphthalmia 3 | |
| Meckel syndrome 13 | |
| Joubert syndrome 29 | |
| Congenital myasthenic syndrome 2C | |
| Congenital myasthenic syndrome 9 | |
| Congenital myasthenic syndrome 4C | |
| Congenital myasthenic syndrome 4B | |
| Spinal muscular atrophy type 0 | |
| Medulloblastoma SHH activated and TP53 mutant | |
| Schizophrenia 10 | |
| Upper lip cancer | |
| Hereditary spastic paraplegia 87 | |
| Isolated microphthalmia 5 | |
| Y-linked spermatogenic failure 1 | |
| Familial febrile seizures 1 | |
| Anaerobic pneumonia | |
| Megalencephalic leukoencephalopathy with subcortical cysts 2B | |
| Megalencephalic leukoencephalopathy with subcortical cysts 2A | |
| X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 | |
| Thymus adenosquamous carcinoma | |
| Peroxisome biogenesis disorder 4A | |
| Cataract 36 | |
| Retinitis pigmentosa 36 | |
| Spinal muscular atrophy with lower extremity predominant 1 | |
| Holoprosencephaly 11 | |
| Hypertrophy of tongue papillae | |
| Meier-Gorlin syndrome 2 | |
| Dilated cardiomyopathy 3B | |
| Familial febrile seizures 9 | |
| Idiopathic generalized epilepsy 11 | |
| Idiopathic generalized epilepsy 10 | |
| Spinal cord sarcoma | |
| Developmental and epileptic encephalopathy 8 | |
| X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques | |
| Multiple mitochondrial dysfunctions syndrome 5 | |
| Autosomal dominant craniodiaphyseal dysplasia | |
| Monocular esotropia | |
| Gallbladder angiosarcoma | |
| Arrhythmogenic right ventricular dysplasia 3 | |
| Thrombophilia due to thrombomodulin defect | |
| Spermatogenic failure 36 | |
| Monocular exotropia | |
| Autosomal recessive nonsyndromic deafness 51 | |
| Subglottis cancer | |
| Subglottis carcinoma | |
| Frontal sinus squamous cell carcinoma | |
| Frontal sinus cancer | |
| Developmental and epileptic encephalopathy 67 | |
| Autosomal dominant nocturnal frontal lobe epilepsy 2 | |
| Ovarian stromal hyperthecosis | |
| Penis basal cell carcinoma | |
| Essential tremor 1 | |
| Hereditary spastic paraplegia 9B | |
| Punctate palmoplantar keratoderma type II | |
| Syndromic microphthalmia 8 | |
| Infantile liver failure syndrome 1 | |
| Breast intraductal papillomatosis | |
| Silverman-Handmaker type dyssegmental dysplasia | |
| Schizophrenia 16 | |
| Benign secondary hypertension | |
| Benign renovascular hypertension | |
| Dehydrated hereditary stomatocytosis 2 | |
| Primary ciliary dyskinesia 40 | |
| Idiopathic generalized epilepsy 14 | |
| Temporal lobe neoplasm | |
| Primary coenzyme Q10 deficiency 9 | |
| Autosomal dominant intellectual developmental disorder 40 | |
| asbestos-related lung carcinoma | |
| non-syndromic X-linked intellectual disability 77 | |
| Autosomal recessive spinocerebellar ataxia 23 | |
| Scrotum squamous cell carcinoma | |
| Autosomal recessive nonsyndromic deafness 111 | |
| Severe congenital neutropenia 1 | |
| Intraorbital meningioma | |
| Integrative agnosia | |
| Familial adult myoclonic epilepsy 7 | |
| Neurooculocardiogenitourinary syndrome | |
| Sakati-Nyhan syndrome | |
| Neuronal intestinal dysplasia type B | |
| Malignant melanocytic neoplasm of the peripheral nerve sheath | |
| Vagus nerve neoplasm | |
| Anal neuroendocrine tumor | |
| Rectum neuroendocrine neoplasm | |
| glycogen-rich clear cell breast carcinoma | |
| Frontal lobe neoplasm | |
| Familial glomangioma | |
| Metagonimiasis | A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Metagonimus yokogawai. The symptoms are diarrhea and colicky abdominal pain. The heart and brain can also be infected. |
| Progressive myoclonus epilepsy 8 | |
| Alzheimer's disease 11 | |
| Chronic atticoantral disease | |
| Heterophyiasis | A parasitic helminthiasis infectious disease that involves intestinal infection by the parasite of the genus Heterophyes. The symptoms are diarrhea and colicky abdominal pain. Migration of the eggs to the heart, results in fatal myocardial and valvular damage. Brain can also be infected. |
| Congenital disorder of glycosylation Ic | |
| Neuronal ceroid lipofuscinosis 9 | |
| Age related macular degeneration 9 | |
| Retinitis pigmentosa 34 | |
| Hereditary nonpolyposis colorectal cancer type 8 | |
| Scrotum basal cell carcinoma | |
| Parathyroid oncocytic adenoma | |
| interleukin-7 receptor alpha deficiency | A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus. |
| Intermediate malignant teratoma | |
| Ovarian solid teratoma | |
| Steroid lipomatosis | |
| Ectopia lentis with ectopia of pupil | |
| Vaginal endometrial stromal sarcoma | |
| Pontocerebellar hypoplasia type 2F | |
| Congenital myasthenic syndrome 11 | |
| Spondyloepiphyseal dysplasia Kondo-Fu type | |
| Penis carcinoma in situ | |
| Hyperekplexia 2 | |
| Zaki syndrome | |
| Developmental and epileptic encephalopathy 104 | |
| Autosomal recessive intellectual developmental disorder 13 | |
| Mixed lacrimal gland cancer | |
| Spondyloepimetaphyseal dysplasia, Pakistani type | A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. |
| Developmental and epileptic encephalopathy 106 | |
| Developmental and epileptic encephalopathy 44 | |
| Testicular spermatocytic seminoma | |
| Hilar lung neoplasm | |
| Cervical basaloid squamous cell carcinoma | |
| Spermatogenic failure 51 | |
| Main bronchus cancer | |
| Autosomal dominant beta thalassemia | |
| Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | A mitochondrial metabolism disease that has material basis in mutation in the TMEM70 gene on chromosome 8q21. |
| Parkinson's disease 8 | |
| Primary ciliary dyskinesia 3 | |
| Primary ciliary dyskinesia 4 | |
| Primary ciliary dyskinesia 8 | |
| Nephrotic syndrome type 10 | |
| Cecum adenoma | |
| Cecal benign neoplasm | |
| Posteroinferior myocardial infarction | |
| Congenital myopathy 6 | |
| Exophthalmic ophthalmoplegia | |
| Coffin-Siris syndrome 11 | |
| Pancreatic colloid cystadenoma | |
| Ovary transitional cell carcinoma | |
| Urinary bladder inverted papilloma | |
| Oesophagostomiasis | |
| Topographical agnosia | |
| Diamond-Blackfan anemia 9 | |
| Primary ciliary dyskinesia 33 | |
| Complex cortical dysplasia with other brain malformations 3 | |
| Posterior polymorphous corneal dystrophy 2 | |
| 1,4-phenylenediamine allergic contact dermatitis | |
| Malignant childhood germ cell neoplasm | |
| Cerebral lipidosis | |
| Larynx verrucous carcinoma | |
| Lung occult squamous cell carcinoma | |
| Clear cell cystadenofibroma | |
| Multifocal osteogenic sarcoma | |
| Vestibular gland benign neoplasm | |
| Bartholin's gland benign neoplasm | |
| Bartholin's gland adenoma | |
| Asphyxiating thoracic dystrophy 4 | |
| Lower gum cancer | |
| Nipple carcinoma | |
| Esophagus small cell carcinoma | |
| Intrahepatic cholestasis of pregnancy 1 | |
| Hypertrophic cardiomyopathy 14 | |
| Autosomal recessive spinocerebellar ataxia 22 | |
| X-linked mental retardation-hypotonic facies syndrome-1 | |
| Dilated cardiomyopathy 1L | |
| Acrofacial dysostosis Rodriguez type | |
| Monckeberg arteriosclerosis | |
| Kidney hemangiopericytoma | A kidney cancer which is manifested in the kidney. |
| Fallopian tube adenosarcoma | |
| Immunodeficiency 46 | |
| Central precocious puberty 1 | |
| Pancreatic intraductal papillary-mucinous adenoma | |
| Developmental and epileptic encephalopathy 74 | |
| Mitochondrial nonsyndromic sensorineural deafness | |
| Autosomal recessive spinocerebellar ataxia 11 | |
| Signet ring lung adenocarcinoma | |
| Keratosis pilaris atrophicans faciei | |
| Chronic tubotympanic suppurative otitis media | |
| Pyridoxine deficiency anemia | |
| protein-deficiency anemia | |
| Retinitis pigmentosa 18 | |
| Syndromic X-linked intellectual disability 34 | |
| Isolated growth hormone deficiency type III | |
| Cervical benign neoplasm | |
| Cervical adenomyoma | |
| Non specific chronic endometritis | |
| Acrofacial dysostosis, Catania type | |
| Prostate leiomyoma | |
| Autosomal recessive spinocerebellar ataxia 6 | |
| Corneal intraepithelial neoplasm | |
| Developmental and epileptic encephalopathy 58 | |
| Maple bark strippers' lung | |
| Prolapse of lacrimal gland | |
| Diamond-Blackfan anemia 8 | |
| Isolated microphthalmia 6 | |
| Acute gonococcal epididymo-orchitis | |
| Fraser syndrome 3 | |
| Lissencephaly 10 | |
| Occlusion of gallbladder | |
| Combined oxidative phosphorylation deficiency 25 | |
| non-syndromic X-linked intellectual disability 107 | |
| Primary ciliary dyskinesia 29 | |
| Fallopian tube papillary adenocarcinoma | |
| Punctate palmoplantar keratoderma type III | |
| Primary autosomal recessive microcephaly 7 | |
| Leber congenital amaurosis 17 | |
| Acanthocephaliasis | A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools. |
| Split hand-foot malformation 2 | |
| CSF1R-related brain malformation and osteopetrosis | |
| X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | |
| platelet-type bleeding disorder 12 | |
| Parenchymatous neurosyphilis | A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has_symptom irritability, has_symptom difficulty concentrating, has_symptom deterioration of memory, has_symptom defective judgment, has_symptom headaches, has_symptom insomnia, has_symptom fatigue, and has_symptom lethargy. |
| Primary autosomal recessive microcephaly 14 | |
| Gallbladder leiomyoma | |
| Autosomal dominant nonsyndromic deafness 69 | |
| Cervical adenoid cystic carcinoma | |
| Rectum sarcoma | |
| Rectum leiomyosarcoma | |
| Urethra leiomyoma | |
| Mediastinum seminoma | |
| Ureter leiomyoma | |
| Benign fibrous mesothelioma | |
| Malignant gastric teratoma | |
| Parapharyngeal meningioma | |
| Acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) | |
| Kaolin pneumoconiosis | |
| Hypertrophic cardiomyopathy 10 | |
| Peritoneal serous papillary adenocarcinoma | |
| Developmental and epileptic encephalopathy 90 | |
| Subglottis squamous cell carcinoma | |
| Malignant cystic nephroma | |
| Developmental and epileptic encephalopathy 57 | |
| Leydig cell hypoplasia type I | |
| Autosomal dominant thrombophilia due to protein S deficiency | |
| Autosomal dominant intellectual developmental disorder 55 | |
| Diamond-Blackfan anemia 13 | |
| Developmental and epileptic encephalopathy 45 | |
| Brachydactyly type A1D | |
| Sugarman brachydactyly | |
| Chronic tympanitis | |
| Hypertrophic cardiomyopathy 20 | |
| Isoniazide allergy | |
| Type 1 diabetes mellitus 18 | |
| Chloramine T respiratory allergy | |
| Perinatal intestinal perforation | |
| Subacute glomerulonephritis | |
| Dicrocoeliasis | A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain. |
| Nephrotic syndrome type 23 | |
| Autosomal recessive woolly hair 3 | |
| Congenital myopathy 22B | |
| Age related macular degeneration 14 | |
| Acute sphenoidal sinusitis | |
| Brain stem ependymoma | |
| Brain stem medulloblastoma | |
| Childhood infratentorial neoplasm | |
| Nephronophthisis 16 | |
| Age related macular degeneration 4 | |
| non-syndromic X-linked intellectual developmental disorder 111 | |
| Chronic rheumatic pericarditis | |
| Histoplasmosis retinitis | |
| Neurofibroma of the heart | |
| Acute myeloid leukemia with mutated CEBPA | |
| Hereditary spastic paraplegia 82 | |
| Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies | |
| Autosomal recessive chronic granulomatous disease 3 | |
| Split hand-foot malformation 6 | |
| Congenital disorder of glycosylation Il | |
| Chromosome 2q31.2 deletion syndrome | |
| Glans penis cancer | |
| Amelogenesis imperfecta type 3C | |
| Central nervous system rhabdomyosarcoma | |
| Adult spinal cord glioblastoma multiforme | |
| Total internal ophthalmoplegia | |
| Tuberculous oophoritis | |
| Fallopian tube teratoma | |
| Arthrogryposis multiplex congenita-1 | |
| Treacher Collins syndrome 2 | |
| Autosomal dominant intellectual developmental disorder 46 | |
| Familial febrile seizures 7 | |
| Familial febrile seizures 10 | |
| Anterior segment dysgenesis 1 | |
| Atopic dermatitis 8 | |
| Hypogonadotropic hypogonadism 24 without anosmia | |
| B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like | |
| Developmental and epileptic encephalopathy 21 | |
| Hypotrichosis 10 | |
| Autosomal recessive nonsyndromic deafness 113 | |
| Atopic dermatitis 4 | |
| Holoprosencephaly 6 | |
| Central nervous system angiosarcoma | |
| Acute gonococcal prostatitis | |
| Chest wall bone cancer | |
| Developmental and epileptic encephalopathy 72 | |
| Pacinian tumor | |
| Hypertrophic cardiomyopathy 15 | |
| Pituitary adenoma 5 | |
| Developmental and epileptic encephalopathy 78 | |
| Anal margin squamous cell carcinoma | |
| Monieziasis | |
| Amyotrophic lateral sclerosis type 22 | |
| Seckel syndrome 4 | |
| Breast myofibroblastoma | |
| Breast capillary hemangioma | |
| Intravascular angioleiomyoma | |
| Skin epithelioid hemangioma | |
| Breast angiomatosis | |
| Heart fibrosarcoma | |
| Penis sarcoma | |
| Dartoic leiomyoma | |
| Developmental and epileptic encephalopathy 71 | |
| Juvenile dermatitis herpetiformis | |
| Developmental and epileptic encephalopathy 100 | |
| Early invasive cervical adenocarcinoma | |
| Multiple epiphyseal dysplasia 2 | |
| Combined oxidative phosphorylation deficiency 53 | |
| Fanconi renotubular syndrome 4 | |
| Vulvar keratoacanthoma | |
| cone-rod dystrophy 19 | |
| Autosomal recessive intellectual developmental disorder 3 | |
| Combined oxidative phosphorylation deficiency 17 | |
| GABA aminotransferase deficiency | A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. |
| Midline cystocele | |
| Peroxisome biogenesis disorder 9B | |
| Testicular trophoblastic tumor | |
| Mixed endometrial stromal and smooth muscle tumor | |
| Autosomal dominant nonsyndromic deafness 52 | |
| Diamond-Blackfan anemia 7 | |
| Autosomal dominant intellectual developmental disorder 31 | |
| Age related macular degeneration 11 | |
| Developmental and epileptic encephalopathy 96 | |
| Developmental and epileptic encephalopathy 89 | |
| Anterior dislocation of lens | |
| Complex cortical dysplasia with other brain malformations 1 | |
| Carbamazepine allergy | |
| AIDS phobia | |
| Chromosome 16p11.2 deletion syndrome, 220-kb | |
| Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | |
| Idiopathic generalized epilepsy 15 | |
| Congenital nystagmus 5 | |
| Syndromic microphthalmia 14 | |
| Uterus interstitial leiomyoma | |
| Skin meningioma | |
| Childhood optic nerve glioma | |
| Middle cranial fossa meningioma | |
| Autosomal recessive isolated ectopia lentis 2 | |
| Autosomal dominant isolated ectopia lentis 1 | |
| Autosomal recessive intellectual developmental disorder 69 | |
| non-syndromic X-linked intellectual disability ARX-related | |
| Rafiq syndrome | |
| Pontocerebellar hypoplasia type 5 | |
| non-syndromic X-linked intellectual disability 2 | |
| Idiopathic generalized epilepsy 5 | |
| Seckel syndrome 9 | |
| Brugada syndrome 6 | |
| Pontocerebellar hypoplasia type 14 | |
| Scrotum Paget's disease | |
| Mu chain disease | A heavy chain disease that results from an overproduction of mu antibody (IgM). |
| Developmental and epileptic encephalopathy 70 | |
| Toxascariasis | |
| Cervical verrucous carcinoma | |
| Haemonchiasis | A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue. |
| Isolated microphthalmia 8 | |
| Internal auditory canal lipoma | |
| Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | |
| Vulva verrucous carcinoma | |
| Cortisone reductase deficiency 2 | |
| Spastic quadriplegic cerebral palsy 3 | |
| Parathyroid transitional clear cell adenoma | |
| Mitochondrial complex IV deficiency nuclear type 21 | |
| Endometriosis of rectovaginal septum and vagina | |
| Luxation of globe | |
| Kunjin encephalitis | |
| Immunodeficiency 22 | |
| Intellectual developmental disorder with ocular anomalies and distinctive facial features | |
| Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 | |
| Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 | |
| Uruguay faciocardiomusculoskeletal syndrome | |
| Choroid spindle cell melanoma | |
| Primary autosomal recessive microcephaly 16 | |
| Maxillary sinus inverted papilloma | |
| Rectum carcinoma in situ | |
| Immunodeficiency 45 | |
| Bronchus mucoepidermoid carcinoma | |
| Perforation of bile duct | |
| Vulvar seborrheic keratosis | |
| Warburg micro syndrome 2 | |
| Agammaglobulinemia 6 | |
| Prieto syndrome | |
| Bronchial mucus gland adenoma | |
| Combined oxidative phosphorylation deficiency 28 | |
| Bladder dome cancer | |
| Parkinson's disease 23 | |
| Autosomal recessive spinocerebellar ataxia 3 | |
| Ichthyosis follicularis-alopecia-photophobia syndrome 1 | |
| Deep corneal vascularisation | |
| homocystinuria-megaloblastic anemia cblE type | |
| Equatorial staphyloma | |
| Nerve plexus neoplasm | |
| Brachial plexus neoplasm | |
| Autosomal recessive cutis laxa type IIIB | |
| Necrotic uveal melanoma | |
| Schizophrenia 18 | |
| Childhood kidney angiomyolipoma | |
| Vaginal endometrial stromal tumor | |
| Gamstorp-Wohlfart syndrome | |
| X-linked keratosis follicularis spinulosa decalvans | |
| Idiopathic corneal edema | |
| Distal arthrogryposis type 2B2 | |
| Idiopathic generalized epilepsy 3 | |
| Severe congenital neutropenia 6 | |
| Hand dermatosis | |
| Distal arthrogryposis type 2B1 | |
| Parkinson's disease 22 | |
| Pelvic muscle wasting | |
| White sponge nevus 1 | |
| X-linked chronic idiopathic intestinal pseudo-obstruction | |
| Antley-Bixler syndrome without disordered steroidogenesis | |
| Common variable immunodeficiency 10 | |
| Inflammatory bowel disease 21 | |
| Pontocerebellar hypoplasia type 1F | |
| Cranial nerve III tumor | |
| Autosomal dominant nonsyndromic deafness 12 | |
| Autosomal dominant cutis laxa 3 | |
| Congenital disorder of glycosylation Ie | |
| Mitochondrial complex IV deficiency nuclear type 1 | |
| Hyperpigmentation of eyelid | |
| Acute gonococcal salpingitis | |
| Sandestig-Stefanova syndrome | |
| Nerve fibre bundle defect | |
| Fanconi renotubular syndrome 5 | |
| Diamond-Blackfan anemia 6 | |
| Lacrimal gland squamous cell carcinoma | |
| Episodic ataxia type 8 | |
| Congenital disorder of glycosylation Id | |
| Combined oxidative phosphorylation deficiency 2 | |
| Rheumatic pulmonary valve disease | |
| Idiopathic CD4-positive T-lymphocytopenia | A lymphopenia that is caused by a reduction of CD4+ T lymphocytes. |
| Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis | |
| 46,XY sex reversal 4 | |
| Fallopian tube squamous cell carcinoma | |
| Neonatal infective mastitis | |
| non-syndromic X-linked intellectual disability 73 | |
| Immunodeficiency 61 | |
| Geniculate ganglionitis | |
| Oral leukoedema | |
| Spondylometaphyseal dysplasia Algerian type | |
| Autosomal recessive spondyloepiphyseal dysplasia tarda | |
| Autosomal dominant spondyloepiphyseal dysplasia tarda | |
| Primary ciliary dyskinesia 14 | |
| Autosomal recessive spinocerebellar ataxia 33 | |
| Malignant hypertensive renal disease | |
| Benign hypertensive renal disease | |
| Autosomal recessive nonsyndromic deafness 20 | |
| Bile duct carcinoma in situ | |
| Childhood ovarian dysgerminoma | |
| Childhood ovarian germ cell tumor | |
| Congenital symmetric circumferential skin creases 2 | |
| Joubert syndrome 28 | |
| Hereditary spastic paraplegia 29 | |
| Nonphotosensitive trichothiodystrophy 4 | |
| Immunodeficiency 19 | |
| Autosomal dominant intellectual developmental disorder 54 | |
| Mature gastric teratoma | |
| Mixed type rhabdomyosarcoma | |
| Classic congenital mesoblastic nephroma | |
| post-surgical hypoinsulinemia | |
| Atopic dermatitis 6 | |
| Paganini-Miozzo syndrome | |
| Ureter inverted papilloma | |
| Ureter urothelial papilloma | |
| ACTH-independent macronodular adrenal hyperplasia 1 | |
| Glottis neoplasm | |
| Setariasis | |
| Nuclear type mitochondrial complex I deficiency 5 | |
| Kidney lipoma | |
| Acromesomelic dysplasia-3 | |
| non-syndromic X-linked intellectual disability 46 | |
| Lung occult adenocarcinoma | |
| Ovarian dysgenesis 5 | |
| Retinitis pigmentosa 60 | |
| Visual impairment and progressive phthisis bulbi | |
| Fallopian tube gestational choriocarcinoma | |
| Hereditary sensory neuropathy type 4 | |
| Primary ciliary dyskinesia 30 | |
| Autosomal dominant intellectual developmental disorder 4 | |
| Hereditary conventional renal cell carcinoma | |
| Tonsillar fossa cancer | |
| Ulceration of vulva | |
| Uvula cancer | |
| Brachydactyly type A1B | |
| Developmental and epileptic encephalopathy 64 | |
| arthrogryposis, renal dysfunction, and cholestasis 2 | |
| non-renal secondary hyperparathyroidism | |
| Jaccoud's syndrome | |
| Ankylosing spondylitis 2 | |
| Blind hypotensive eye | |
| Chronic fungal otitis externa | |
| Olfactory neural tumor | |
| Hereditary spastic paraplegia 85 | |
| Brucella abortus brucellosis | |
| Distal arthrogryposis type 2B3 | |
| Extrapyramidal and movement disease | |
| Developmental delay, hypotonia, and impaired language | |
| Diamond-Blackfan anemia 5 | |
| Autoimmune lymphoproliferative syndrome type 2A | |
| Autosomal recessive hyaline body myopathy | |
| Serous surface papilloma | |
| Aleukemic monocytic leukemia cutis |
