| Description | Disease-gene interactions from manually curated literature |
| Measurement | association by literature curation |
| Association | gene-disease associations by manual literature curation |
| Category | disease or phenotype associations |
| Resource | Comparative Toxicogenomics Database |
| Citation(s) | |
| Last Updated | 2015 Apr 06 |
| Stats |
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| API | |
| Script | |
| Downloads |
Attribute Similarity
Gene Attribute
Gene Similarity
5218 sets of genes/proteins associated with diseases from the curated CTD Gene-Disease Associations dataset.
| Gene Set | Description |
|---|---|
| Spastic paraplegia 24 | |
| Leukoencephalopathy With Metaphyseal Chondrodysplasia | |
| Enhanced S-Cone Syndrome | Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis). |
| Lupus Erythematosus, Systemic | 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. |
| Scrapie | |
| Spastic paraplegia 20, autosomal recessive | |
| Maturity-Onset Diabetes of the Young, Type 7 | |
| Azotemia | An increased concentration of nitrogen compounds in the blood. |
| Lymphedema distichiasis syndrome | |
| Hypophosphatemic Rickets And Hyperparathyroidism | |
| Sveinsson Chorioretinal Atrophy | Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease. |
| Anisocoria | Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease. |
| PHOTOPAROXYSMAL RESPONSE 1 | |
| Congenital Hyperinsulinism | |
| Jaundice | Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. |
| Focal Dermal Hypoplasia | OMIM mapping confirmed by DO. [SN]. |
| Muir-Torre Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Macular Degeneration, Age-Related, 11 | |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative | |
| Liver Diseases, Parasitic | |
| Dent Disease 2 | 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. |
| Mixed Tumor, Mullerian | |
| Myopia 14 | |
| PSEUDOHYPOPARATHYROIDISM, TYPE IA | |
| Sinonasal undifferentiated carcinoma | |
| Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 | |
| Mohr-Tranebjaerg syndrome | A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems. |
| 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. |
| Drug Overdose | |
| MASS syndrome | |
| Spermatogenic Failure 7 | |
| Ragweed Sensitivity | |
| Pick Disease of the Brain | |
| 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. |
| Hearing Loss, Sudden | |
| Miyoshi Muscular Dystrophy 2 | |
| Miyoshi Muscular Dystrophy 3 | |
| Brugada Syndrome 7 | |
| Prostate Cancer, Hereditary, 15 | |
| LIPOMATOSIS, MULTIPLE | |
| Dyssegmental dysplasia | |
| Dyspepsia | |
| Kenny Caffey syndrome | |
| THROMBOCYTOPENIA 2 | |
| Achondrogenesis type 2 | Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage. |
| 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. |
| DEVELOPMENTAL DYSPLASIA OF THE HIP 1 | |
| Hypoxia, Brain | |
| Carotid Stenosis | |
| Aortic Aneurysm, Familial Abdominal 2 | |
| MYD88 Deficiency | Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease. |
| Fructosuria | |
| Cataract congenital Volkmann type | |
| Riddle Syndrome | |
| Prostate Cancer, Hereditary, 9 | |
| Chills | |
| Anoxia | absence or almost complete absence of oxygen from inspired gases, in blood or tissues |
| Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation | |
| Prostate Cancer, Hereditary, 8 | |
| Inflammatory Bowel Disease 10 | |
| 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). |
| Inflammatory Bowel Disease 12 | |
| Inflammatory Bowel Disease 13 | |
| Inflammatory Bowel Disease 14 | |
| Inflammatory Bowel Disease 15 | |
| Linitis Plastica | |
| Neuralgia | |
| Inflammatory Bowel Disease 18 | |
| Inflammatory Bowel Disease 19 | |
| Epilepsy, Generalized | |
| Cyclic neutropenia | |
| Aneurysm, Ruptured | |
| Tobacco Use Disorder | |
| Siderius X-linked mental retardation syndrome | |
| Brachydactyly type A2 | |
| GNATHODIAPHYSEAL DYSPLASIA | |
| Fibromatosis, Gingival, 4 | |
| Heart Septal Defects, Ventricular | |
| Hereditary renal agenesis | |
| Dextrocardia | |
| Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal | |
| Lymphohistiocytosis, Hemophagocytic | |
| Spinocerebellar Ataxia 15 | |
| Spinocerebellar Ataxia 12 | |
| 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. |
| AIDS-Related Opportunistic Infections | |
| Anemia, Iron-Deficiency | |
| Congenital adrenal hyperplasia due to 21 hydroxylase deficiency | |
| Stomach Diseases | |
| Neoplasms, Second Primary | |
| Huntington Disease-Like 2 | Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities. |
| Dyskeratosis, Hereditary Benign Intraepithelial | |
| Congenital Hypothyroidism | A hypothyroidism that is present at birth. |
| Diabetic Ketoacidosis | OMIM mapping confirmed by DO. [SN]. |
| Platelet Glycoprotein IV Deficiency | |
| Parkinson disease 9 | |
| Chondrosarcoma, Mesenchymal | |
| 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. |
| TRICHODENTOOSSEOUS SYNDROME | |
| Oguchi disease | Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon. |
| Heart Block | Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway. |
| Fibular hypoplasia and complex brachydactyly | An autosomal recessive disease that is characterised by severe reduction or absence of the fibula and complex brachydactyly. |
| Hyperparathyroidism 1 | |
| Synovitis granulomatous with uveitis and cranial neuropathies | |
| Hyperparathyroidism 3 | |
| Brugada Syndrome 8 | |
| Char syndrome | |
| Hyperparathyroidism, Neonatal Severe Primary | |
| Deafness, Autosomal Recessive 1b | |
| 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. |
| Deafness, Autosomal Recessive 32 | |
| PHOTOPAROXYSMAL RESPONSE 2 | |
| Biliary Cirrhosis, Primary, 2 | |
| 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. |
| Vasculitis | A vascular disease that is characterized by inflammation of the blood vessels. |
| Mitochondrial Phosphate Carrier Deficiency | |
| Child Development Disorders, Pervasive | |
| Pyloric Atresia | |
| Gaucher 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. |
| Familial myelofibrosis | |
| 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. |
| 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. |
| Leukocyte Adhesion Deficiency, Type III | Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder. |
| NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO | |
| 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. |
| 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. |
| Shwachman 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. |
| Hypertension, Pulmonary | |
| Macular Degeneration, Age-Related, 10 | |
| Deafness, Autosomal Recessive 1A | |
| MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS | |
| Nephronophthisis, familial juvenile | |
| PULMONARY FUNCTION | |
| Atypical Hemolytic Uremic Syndrome | |
| Glomerulopathy with fibronectin deposits | Fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life. |
| Sexual Infantilism | |
| Corneal dystrophy, gelatinous drop-like | |
| Ocular Albinism type 1 | X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males. |
| Carotid Artery Diseases | |
| Deafness, Autosomal Recessive 14 | |
| MAST Syndrome | A hereditary spastic paraplegia associated with dementia. |
| Deafness, Autosomal Recessive 16 | |
| Deafness, Autosomal Recessive 17 | |
| Quadriplegia | |
| Tay-Sachs Disease, AB Variant | OMIM mapping confirmed by DO. [SN]. |
| Acute Coronary Syndrome | A disorder characterized by signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction. |
| Osteogenesis imperfecta, type 2A | |
| Congenital bilateral aplasia of vas deferens | |
| Microphthalmia, syndromic 2 | |
| Opioid-Related Disorders | |
| Prostate Cancer, Hereditary, 14 | |
| Intestinal Neoplasms | |
| Heinz Body Anemias | |
| Sjogren-Larsson Syndrome | OMIM mapping confirmed by DO. [LS]. |
| Eosinophilia, Familial | |
| Amyotrophic Lateral Sclerosis 5 | A type of ALS with juvenile onset with loci associated with the disease located_in chromosome 15. |
| Spastic Paraplegia 32, Autosomal Recessive | |
| Hypertension, Portal | |
| Water-Electrolyte Imbalance | |
| Ectodermal Dysplasia 3, Anhidrotic | |
| 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. |
| MEHMO syndrome | |
| Neuromuscular Diseases | |
| Blood Loss, Surgical | |
| Naxos disease | |
| Myocardial Stunning | |
| Anemia, Aplastic | |
| Acrocapitofemoral Dysplasia | OMIM mapping confirmed by DO. [SN]. |
| Myoclonic Epilepsies, Progressive | |
| Tremor hereditary essential, 1 | |
| Prostate Cancer, Hereditary, 11 | |
| Eosinophilia | |
| Prostate Cancer, Hereditary, 13 | |
| Prostate Cancer, Hereditary, 12 | |
| Corneal Dystrophy, Juvenile Epithelial of Meesmann | |
| Dermoids of cornea | |
| Glaucoma-Related Pigment Dispersion Syndrome | |
| Bile Duct Neoplasms | |
| Congenital Abnormalities | |
| Thrombophilia | OMIM mapping confirmed by DO. [LS]. |
| Amelogenesis Imperfecta, Type III | |
| Retinitis Pigmentosa 37 | |
| Hyperlipidemia, Familial Combined | |
| Coronaviridae Infections | |
| Prekallikrein Deficiency | |
| Methylenetetrahydrofolate reductase deficiency | |
| Leukodystrophy, Globoid Cell | |
| Lateral Medullary Syndrome | |
| Retinal Cone Dystrophy 1 | |
| MYOPATHY, CENTRONUCLEAR, 2 | |
| 6-pyruvoyl-tetrahydropterin synthase deficiency | |
| SPECIFIC LANGUAGE IMPAIRMENT 2 | |
| Hemorrhagic Disorders | |
| Lymphopenia | A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood. |
| Speech-Sound Disorder | |
| Huntington Disease-Like 1 | |
| Anodontia | |
| Spastic Paraplegia 36, Autosomal Dominant | |
| Hereditary Sensory and Motor Neuropathy | |
| Osteopetrosis, Autosomal Recessive 1 | |
| MYOPATHY, CENTRONUCLEAR, 1 | |
| Osteopetrosis, Autosomal Recessive 7 | |
| Bile Duct Diseases | |
| Osteopetrosis, Autosomal Recessive 5 | |
| Osteopetrosis, Autosomal Recessive 4 | |
| Chondrosarcoma, Extraskeletal Myxoid | |
| Thanatophoric dysplasia, type 2 | ). |
| DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT | |
| 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. |
| TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH | |
| FORSYTHE-WAKELING SYNDROME | |
| 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. |
| Liver Cirrhosis | |
| Proctitis | Proctitis is an inflammation of the rectum. |
| Cataract, Nuclear Progressive | |
| Adrenal hyperplasia 2 | |
| Cafe au lait spots, multiple | |
| Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive | |
| Factor XI Deficiency | OMIM mapping confirmed by DO. [SN]. |
| Platelet Disorder, Familial, with Associated Myeloid Malignancy | |
| Endotoxemia | |
| Emaciation | |
| Respiratory Sounds | |
| 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. |
| Partington X-linked mental retardation syndrome | |
| Exudative vitreoretinopathy 1 | |
| Neoplasms, Radiation-Induced | |
| Cold-Induced Sweating Syndrome 1 | |
| Leukoencephalopathy, Cystic, Without Megalencephaly | |
| Cardiac valvular dysplasia, X-linked | |
| Carnitine palmitoyl transferase 1A deficiency | Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure. |
| 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. |
| Anemia, Hemolytic, Congenital Nonspherocytic | |
| Hyperinsulinemic hypoglycemia, familial, 6 | |
| Adenocarcinoma Of Esophagus | |
| BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | |
| Lacrimoauriculodentodigital syndrome | An autosomal dominant disease that is characterized by abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes. |
| Thrombophilia, X-Linked, Due To Factor Ix Defect | |
| Food Hypersensitivity | A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system. |
| beta-Thalassemia | A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin. |
| Preaxial deficiency, postaxial polydactyly and hypospadias | |
| Desbuquois syndrome | Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity, multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. |
| Nocturnal Enuresis | Enuresis occurring during sleeping hours. |
| Combined Cellular And Humoral Immune Defects With Granulomas | |
| Retinitis Pigmentosa 31 | |
| 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). |
| USHER SYNDROME, TYPE IJ | |
| Hyperexplexia hereditary | |
| THYROTROPIN-RELEASING HORMONE DEFICIENCY | |
| Cardiomyopathy, Restrictive | |
| Apraxias | |
| Nijmegen Breakage Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Nephrosis, Lipoid | |
| Basal Cell Nevus Syndrome | OMIM mapping confirmed by DO. [SN]. |
| GREENBERG DYSPLASIA | |
| CREATINE PHOSPHOKINASE, ELEVATED SERUM | |
| Thyroid Hormone Resistance, Generalized, Autosomal Dominant | |
| Charcot-Marie-Tooth disease, Type 2K | |
| Piebaldism | OMIM mapping confirmed by DO. [SN]. |
| HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 | |
| Carbamoyl-Phosphate Synthase I Deficiency Disease | |
| Facioscapulohumeral muscular dystrophy 1a | |
| Adenoma, Liver Cell | |
| Methylmalonic acidemia with homocystinuria | Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms). |
| Thromboembolism | The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site. |
| Multiple Organ Failure | |
| MICROPHTHALMIA, ISOLATED 5 | |
| MICROPHTHALMIA, ISOLATED 7 | |
| Hypomagnesemia 1, Intestinal | |
| Tuberous Sclerosis 2 | |
| Dyskinesia, Drug-Induced | |
| Shy-Drager Syndrome | OMIM mapping confirmed by DO. [LS]. |
| Tuberous Sclerosis 1 | |
| Adenosine Triphosphate, Elevated, Of Erythrocytes | Autosomal dominant phenotype characterized by increase of red blood cell ATP. |
| OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS | |
| Craniolenticulosutural Dysplasia | |
| Chordoma | A notochordal cancer that derives_from cellular remnants of the notochord. |
| Night Blindness, Congenital Stationary, Autosomal Dominant 3 | |
| Mesenteric Ischemia | |
| Angioedemas, Hereditary | |
| Mandibuloacral dysplasia with type B lipodystrophy | |
| Leukostasis | |
| Virus Diseases | |
| Deafness, Autosomal Dominant 44 | |
| 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. |
| Language Disorders | |
| Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia | |
| Hyperlipoproteinemia Type IV | OMIM mapping confirmed by DO. [SN]. |
| Hypercalciuria, Absorptive, 2 | |
| Menstruation Disturbances | |
| Optic Neuritis | An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision. |
| Acro-Osteolysis | Dissolution or degeneration of bone tissue of the phalanges of the hand. |
| IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 | |
| Hypothyroidism, Congenital, Nongoitrous, 4 | |
| Maxillary Diseases | |
| Alopecia-Mental Retardation Syndrome 1 | |
| Osteogenesis Imperfecta | An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. |
| Alopecia-Mental Retardation Syndrome 2 | |
| Bartter syndrome, antenatal type 1 | |
| Cataract, Central Saccular, With Sutural Opacities | |
| Pulmonary Alveolar Microlithiasis | OMIM mapping confirmed by DO. [SN]. |
| Red-Cell Aplasia, Pure | disease cluster belonging to disease group unknown |
| Retinal Detachment | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| Heterotopia, Periventricular, Autosomal Recessive | |
| Usher Syndromes | |
| Leber Congenital Amaurosis 4 | |
| Pharyngeal Neoplasms | |
| WOOLLY HAIR, AUTOSOMAL DOMINANT | |
| 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. |
| Tyrosine Kinase 2 Deficiency | |
| Parkinsonism-Dystonia, Infantile | |
| OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 | |
| Esophageal 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. |
| Retinitis Pigmentosa 35 | |
| Schizophrenia, Catatonic | |
| Allanson Pantzar McLeod syndrome | |
| Aarskog Syndrome | A monogenic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face. |
| 46, XY Sex Reversal 5 | |
| Hypotrichosis 5 | |
| Acrocephalopolysyndactyly Type II | An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly. |
| Refractive Errors | |
| Menkes Kinky Hair Syndrome | |
| Mercury Poisoning, Nervous System | |
| Cataract, posterior polar, 4 | |
| Ataxia Telangiectasia | OMIM mapping confirmed by DO. [SN]. |
| Cataract, posterior polar, 3 | |
| Achalasia Addisonianism Alacrimia syndrome | OMIM mapping confirmed by DO. [SN]. |
| Malignant hyperthermia susceptibility type 2 | |
| Edema, Cardiac | |
| Orthostatic Hypotensive Disorder, Streeten Type | |
| Rheumatic Diseases | |
| Properdin deficiency, X-linked | |
| Malignant hyperthermia susceptibility type 3 | |
| CRANIOECTODERMAL DYSPLASIA 2 | |
| Keratoderma, Palmoplantar | |
| Drug Metabolism, Poor, CYP2D6-Related | |
| Waardenburg syndrome, type 4 | |
| Cholesterol Ester Storage Disease | |
| ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1 | |
| Malignant hyperthermia susceptibility type 1 | |
| Amnesia | 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. |
| Myopathy, Central Core | |
| Inflammatory Bowel Disease 6 | |
| Malignant hyperthermia susceptibility type 6 | |
| Addison Disease | An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands. |
| Deafness, Autosomal Dominant 47 | |
| Mastocytosis, Systemic | |
| Thoracic Diseases | |
| CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1 | |
| Chronic Pain | Persistent pain, usually defined as pain that has laster longer than 3 to 6 months. |
| Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction | |
| Syncope | Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. |
| Raine syndrome | |
| Bethlem myopathy | OMIM mapping confirmed by DO. [SN]. |
| Muscle Hypotonia | Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching. |
| MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 4 | |
| ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 | |
| 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. |
| Vomiting | Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. |
| Drug Metabolism, Poor, CYP2C19-Related | |
| Coronary Thrombosis | |
| Precancerous Conditions | |
| EXOSTOSES, MULTIPLE, TYPE II | |
| Opitz GBBB Syndrome, X-Linked | |
| Burns | |
| Laryngeal Neoplasms | |
| COENZYME Q10 DEFICIENCY, PRIMARY, 1 | |
| Foodborne Diseases | |
| Child Behavior Disorders | |
| Bernard-Soulier Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Hematologic Neoplasms | |
| Keratoderma palmoplantar deafness | |
| 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. |
| 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. |
| Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation | |
| Thrombosis | formation within a tissue or the vascular lumen of a thrombus, an aggregation of coagulated blood containing platelets, fibrin, and entrapped cellular elements |
| Cytomegalovirus Infections | A Herpesviridae infectious disease that results_in infection in animals and humans, has_agent Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions.|Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults. |
| Bone Marrow Neoplasms | |
| Pemphigus, Benign Familial | OMIM mapping confirmed by DO. [SN]. |
| Glutathione synthetase deficiency | |
| 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. |
| Paroxysmal Extreme Pain Disorder | |
| Porphyria, Acute Hepatic | |
| Amelogenesis Imperfecta | A dental enamel hypoplasia characterized by abnormal enamel formation. |
| Mycobacterium Infections | |
| Joubert Syndrome 8 | |
| Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia | |
| Cerulean cataract | Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary. |
| Salmonella Infections | |
| Renal Hypodysplasia, Nonsyndromic, 1 | |
| Inflammatory Bowel Disease 16 | |
| Leukodystrophy, Hypomyelinating, 5 | |
| Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp | |
| Inflammatory Bowel Disease 17 | |
| Spastic Paraplegia 34, X-Linked | |
| Generalized Epilepsy With Febrile Seizures Plus, Type 6 | |
| Amyotrophic Lateral Sclerosis 6, Autosomal Recessive | |
| Focal cortical dysplasia of Taylor | |
| Severe Dengue | |
| 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. |
| Neoplasm Recurrence, Local | |
| Ehlers-Danlos syndrome 6B | |
| Cafe-au-Lait Spots | Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children. |
| Ellis-Van Creveld Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Cardiomyopathy, Familial Restrictive, 1 | |
| Keratosis palmoplantaris striata 3 | |
| Aortic Valve, Calcification of | |
| AIDS-Related Complex | |
| Cardiomyopathy, Familial Hypertrophic, 9 | |
| Cardiomyopathy, Familial Hypertrophic, 8 | |
| Erythema Multiforme | A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness. |
| 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. |
| Keratosis Palmoplantaris Striata II | |
| Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis | |
| Myoglobinuria | Presence of myoglobin in the urine. |
| Glucocorticoid Deficiency 2 | |
| Leukemia, Hairy Cell | |
| Cardiomyopathy, Familial Hypertrophic, 2 | |
| Aneurysm, Intracranial Berry, 8 | |
| Oculocutaneous albinism type 1B | Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves. |
| Cardiomyopathy, Familial Hypertrophic, 6 | |
| Silver-Russell Syndrome | OMIM mapping confirmed by DO. [LS]. |
| Movement Disorders | |
| Trichothiodystrophy Syndromes | |
| Popliteal Pterygium Syndrome | NT MGI. |
| Congenital idiopathic intestinal pseudoobstruction | |
| Laron Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Optic Atrophy, Hereditary, Leber | |
| Pleuropulmonary blastoma | A pulmonary blastoma that derives_from the lung or pleural cavity. |
| Deafness, Autosomal Recessive 67 | |
| Neoplasms, Squamous Cell | |
| Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma | |
| Pituitary Apoplexy | |
| Retinal Cone Dystrophy 3A | |
| TARP syndrome | |
| Cataract, Zonular Pulverulent 3 | |
| Inflammatory Bowel Disease 7 | |
| Polydactyly | |
| Hearing Loss | reduced ability to perceive auditory stimuli |
| Inflammatory Bowel Disease 4 | |
| Amyloidosis, familial visceral | |
| Carcinoma | A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases. |
| Miller-McKusick-Malvaux-Syndrome (3M Syndrome) | |
| Retinitis Pigmentosa 25 | |
| Spinal muscular atrophy, Jerash type | |
| Myasthenia Gravis | OMIM mapping confirmed by DO. [SN]. |
| Tight skin contracture syndrome, lethal | |
| Hyperinsulinism | |
| Epilepsy, Frontal Lobe | |
| Aniridia | OMIM mapping confirmed by DO. [SN]. |
| Budd-Chiari Syndrome | |
| Muenke Syndrome | |
| Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema | |
| Angina Pectoris | Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia. |
| Deafness, Autosomal Recessive 13 | |
| Microtia, Hearing Impairment, And Cleft Palate | |
| NOONAN SYNDROME 7 | |
| Giant Lymph Node Hyperplasia | |
| Hemoptysis | Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. |
| Mental Retardation, X-Linked 30 | |
| Cardiomyopathy, Hypertrophic, Familial | |
| BRACHYDACTYLY, TYPE E2 | |
| Anus, Imperforate | |
| Myopathy, Reducing Body, X-Linked, Childhood-Onset | |
| 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) |
| OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS | |
| Spinocerebellar Ataxia 17 | |
| Cataract, Zonular Pulverulent 1 | |
| Macular dystrophy, retinal, 1, North Carolina type | |
| Anus Neoplasms | |
| Neonatal-onset citrullinemia type 2 | |
| Mesenteric Vascular Occlusion | |
| Acrodermatitis enteropathica | |
| Currarino triad | |
| Cone-Rod Dystrophy 8 | |
| Glycogen Storage Disease 0, Liver | |
| Multicystic renal dysplasia, bilateral | |
| Cone-Rod Dystrophy 3 | |
| Tangier Disease | OMIM mapping confirmed by DO. [LS]. |
| CARDIOMYOPATHY, DILATED, 3B | |
| Cone-Rod Dystrophy 7 | |
| Oculootoradial 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. |
| Cone-Rod Dystrophy 5 | A retinal degeneration that is an inherited progressive disease that causes deterioration of the cone and rod photoreceptor cells and often results in blindness. |
| Prinzmetal's variant angina | |
| Carcinoma, Bronchogenic | |
| Spinocerebellar Ataxia 10 | |
| Pseudohypoaldosteronism | |
| Eye Diseases, Hereditary | |
| Hemorrhage | loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels |
| Lichenoid Eruptions | |
| Arteritis | Arterial inflammation. |
| MORM syndrome | |
| Papilledema | |
| Neuraminidase deficiency with beta-galactosidase deficiency | |
| Vertical talus, congenital | |
| Aniridia cerebellar ataxia mental deficiency | |
| Nystagmus 1, congenital, X- linked | |
| Hypertrophy, Left Ventricular | |
| Roifman syndrome | |
| Carcinoma, Small Cell | |
| Airway Obstruction | |
| Urinary Bladder, Overactive | |
| Facial paresis, hereditary, congenital | |
| Hirsutism | Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). |
| Hypertension, Renovascular | |
| Charcot-Marie-Tooth disease, Type 1C | |
| Chondrodysplasia, Grebe type | |
| Congenital anosmia | |
| Corneal dystrophy Avellino type | |
| Ambras syndrome | Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth. |
| Urinary Bladder Calculi | |
| HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO | |
| Retinal Cone Dystrophy 3B | |
| Usher syndrome, type 1C | |
| Vohwinkel Syndrome, Variant Form | |
| Incontinentia Pigmenti | |
| 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. |
| Neuropathy, Hereditary Sensory And Autonomic, Type IIB | |
| Acromegaloid features, overgrowth, cleft palate, and hernia | |
| Inflammatory Bowel Disease 26 | |
| Orofacial Cleft 9 | |
| Myopia 16 | |
| Usher syndrome, type 1F | |
| Beckwith-Wiedemann Syndrome | A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations. |
| Paroxysmal ventricular fibrillation | Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death. |
| Blindness, Cortical | |
| Ichthyosis with hypotrichosis, autosomal recessive | |
| Orofacial Cleft 1 | |
| Hypoxia-Ischemia, Brain | |
| Griscelli syndrome type 2 | |
| Chronobiology Disorders | |
| Consciousness Disorders | |
| Martsolf syndrome | |
| 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). |
| Griscelli syndrome type 3 | |
| Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | |
| Corneal Neovascularization | |
| Necrosis | |
| Corneal Dystrophy, Fuchs Endothelial, 6 | |
| 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS | |
| Corneal Dystrophy, Fuchs Endothelial, 3 | |
| 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. |
| Vesicoureteral Reflux 2 | |
| NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA | |
| Vasculitis, Leukocytoclastic, Cutaneous | |
| Mental Retardation, Autosomal Recessive 13 | |
| Filaminopathy, autosomal dominant | |
| Myopia 11 | |
| RAJAB SYNDROME | |
| Gaze Palsy, Familial Horizontal, with Progressive Scoliosis | |
| Prion Diseases | |
| Fecal Incontinence | Involuntary fecal soiling in adults and children who have usually already been toilet trained. |
| Chorioamnionitis | A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection. |
| Spinocerebellar Ataxias | |
| Mental Retardation, X-Linked 23 | |
| Elliptocytosis 2 | |
| Metaphyseal chondrodysplasia Schmid type | |
| Combined Oxidative Phosphorylation Deficiency 3 | |
| Skin Diseases | |
| Deafness, Autosomal Dominant 25 | |
| Cerebral hemorrhage with amyloidosis, hereditary, Dutch type | |
| Dyschromatosis Universalis Hereditaria 2 | |
| Pneumothorax, Primary Spontaneous | |
| Rhabdomyolysis | Necrosis or disintegration of skeletal muscle often followed by myoglobinuria. |
| Macular dystrophy, atypical vitelliform | |
| Dermatitis, Allergic Contact | |
| IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRGAT | |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 | |
| Paroxysmal nonkinesigenic dyskinesia | |
| Colic | |
| Tachycardia, Paroxysmal | |
| Melanoma, Amelanotic | |
| Norman Roberts lissencephaly syndrome | |
| Olfaction Disorders | |
| DEAFNESS, AUTOSOMAL RECESSIVE 91 | |
| Deafness, Autosomal Recessive 77 | |
| Deafness, Autosomal Dominant 15 | |
| Pruritus | Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. |
| Amelogenesis Imperfecta, Type IV | |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease | |
| Pneumonia, Bacterial | |
| Histiocytosis, Sinus | |
| Achondrogenesis type 1A | |
| 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. |
| Emphysema | A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing. |
| Bruxism | A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping. |
| Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress | |
| 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. |
| Deafness, Autosomal Dominant 10 | |
| Acute-Phase Reaction | |
| Hyperthyroxinemia | |
| Hyperparathyroidism 2 | |
| Facies | |
| Atrial Fibrillation, Familial, 8 | |
| Atrial Fibrillation, Familial, 7 | |
| Atrial Fibrillation, Familial, 6 | |
| Multiple Endocrine Neoplasia Type 2a | An autosomal dominant disease characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis. |
| Atrial Fibrillation, Familial, 4 | |
| Meningism | |
| Stroke | An artery disease that is characterized by dysfunction of the blood vessels supplying the brain. |
| 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. |
| MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) | |
| Developmental Disabilities | Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed) |
| Hyperalgesia | increased sensitivity to painful stimuli; can be due to inflammatory response or due to damage to soft tissue containing nociceptors or injury to a peripheral nerve; it can be primary (at the site of the injury) or secondary (in the surrounding undamaged area) |
| Hypokinesia | Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency. |
| Soft Tissue Neoplasms | |
| Cholestasis, progressive familial intrahepatic 1 | |
| Harlequin type ichthyosis | |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis | |
| Polyps | Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base.|A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations. -- 2004|A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations. |
| Rhinitis, Allergic, Perennial | |
| Cholestasis, progressive familial intrahepatic 2 | |
| Thyroid Dyshormonogenesis 2A | |
| Nausea | A sensation of unease in the stomach together with an urge to vomit. |
| Griscelli syndrome type 1 | |
| Nevus, Sebaceous of Jadassohn | |
| Charcot-Marie-Tooth Disease, Dominant Intermediate D | |
| Hypertrichosis | |
| Hypothyroidism, Congenital, Nongoitrous, 5 | |
| Thrombophilia, hereditary | |
| Cardiomyopathy, Dilated, 1FF | |
| Senior-Loken Syndrome 3 | |
| 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. |
| Bronchitis, Chronic | |
| Laryngismus | |
| Mental Retardation, X-Linked 91 | |
| Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis | |
| Splenomegaly | Abnormal increased size of the spleen. |
| Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I | |
| Aneurysm | Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart. |
| Myopia 8 | |
| Glycosuria | An increased concentration of glucose in the urine. |
| Osteochondrodysplasias | |
| HIV-Associated Lipodystrophy Syndrome | |
| Ciliary Dyskinesia, Primary, 6 | |
| Craniosynostosis, anal anomalies, and porokeratosis | |
| Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | |
| FANCONI ANEMIA, COMPLEMENTATION GROUP C | |
| Charcot-Marie-Tooth disease, Type 1D | |
| Synovitis | A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling. |
| Proopiomelanocortin Deficiency | |
| Laryngo onycho cutaneous syndrome | LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. |
| Cerebral Infarction | |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked | |
| Oculocerebrorenal Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Scleroderma, Localized | |
| VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2 | |
| Lymphoma, Follicular | |
| Ulcer | |
| Long Qt Syndrome 9 | |
| Usher Syndrome, Type IG | |
| Elliptocytosis, Hereditary | |
| Dyspnea | Difficult or labored breathing. |
| Port-Wine Stain | A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin. |
| Craniosynostoses | |
| Hemangioendothelioma | |
| Skin Abnormalities | |
| DEAFNESS, AUTOSOMAL DOMINANT 27 | |
| HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY | |
| Back Pain | An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. |
| Oral Submucous Fibrosis | |
| Macular dystrophy, concentric annular | |
| USHER SYNDROME, TYPE IIIA | |
| Lacrimal Apparatus Diseases | |
| Herpesviridae Infections | |
| Creutzfeldt-Jakob Syndrome | |
| Lamellar ichthyosis, type 2 | |
| Tachycardia | A rapid heartrate that exceeds the range of the normal resting heartrate for age. |
| Neovascularization, Pathologic | |
| LEFT VENTRICULAR NONCOMPACTION 2 | |
| North American Indian Childhood Cirrhosis | |
| LEFT VENTRICULAR NONCOMPACTION 1 | |
| Abnormalities, Severe Teratoid | |
| Priapism | A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain. |
| Neuroaxonal Dystrophies | |
| Spondyloenchondrodysplasia | |
| Retinitis Pigmentosa 7 | |
| Reed's syndrome | |
| Transient Myeloproliferative Disorder of Down Syndrome | |
| Corpus Callosum, Partial Agenesis of, X-Linked | |
| Miles-Carpenter x-linked mental retardation syndrome | |
| Mucocutaneous Lymph Node Syndrome | 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. |
| Aneuploidy | chromosome count is not an exact multiple of the haploid number |
| Epileptic Encephalopathy, Early Infantile, 4 | |
| Epileptic Encephalopathy, Early Infantile, 1 | |
| Hyperferritinemia, hereditary, with congenital cataracts | |
| Epileptic Encephalopathy, Early Infantile, 2 | |
| Tremor | An unintentional, oscillating to-and-fro muscle movement. |
| Diaphragmatic Hernia 2 | |
| Ovarian Neoplasms | |
| Snowflake vitreoretinal degeneration | |
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1H | |
| Cardiomyopathy, Dilated, 1DD | |
| Vascular System Injuries | |
| Placenta Diseases | |
| Mental Retardation, X-Linked 95 | A non-syndromic intellectual disability characterized by a X-linked inheritance pattern. |
| Epidermolysis Bullosa Simplex | |
| Sacral defect and anterior sacral meningocele | |
| Spastic paraplegia type 5A, recessive | |
| Fetal Resorption | |
| Mood Disorders | |
| Retinitis Pigmentosa 26 | |
| Alcohol-Related Disorders | |
| Oroticaciduria 1 | |
| Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency | A mitochondrial metabolism disease that has_material_basis_in a mutation in the SCO2 gene which encodes a COX assembly factor and results in deficiency of cytochrome c oxidase. |
| Muscular Dystrophies, Limb-Girdle | |
| Mental Retardation, X-Linked 9 | |
| Infertility, Female | |
| Lipid Metabolism, Inborn Errors | |
| Cone-Rod Dystrophy 13 | |
| Stomach Ulcer | |
| 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). |
| Hypoplastic Left Heart Syndrome | A congenital heart disease characterized by abnormal development of the left-sided structures of the heart. |
| Ciliary Dyskinesia, Primary, 13 | |
| Hypophosphatemic Rickets, Autosomal Dominant | |
| Ciliary Dyskinesia, Primary, 11 | |
| Ciliary Dyskinesia, Primary, 10 | |
| Albuminuria | The presence of albumin in the urine, an indicator of KIDNEY DISEASES. |
| Myasthenia, Familial Infantile, 1 | |
| Alcohol-Induced Disorders, Nervous System | |
| Keratosis, Seborrheic | |
| Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 | |
| DEAFNESS, AUTOSOMAL RECESSIVE 85 | |
| Abruptio Placentae | A placenta disease that is characterized by separation of the placental lining from the uterus of the mother. |
| Transposition of Great Vessels | A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle. |
| Diabetic Cardiomyopathies | |
| Leydig Cell Tumor | |
| Senior-Loken Syndrome 5 | |
| Drug-Induced Liver Injury, Chronic | |
| Hypertensive Encephalopathy | |
| MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO | |
| 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. |
| Ichthyosiform erythroderma, Brocq congenital, nonbullous form | |
| Paraproteinemias | |
| Intervertebral disc disease | disease cluster belonging to disease group aging |
| 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. |
| Neutropenia, Severe Congenital, Autosomal Dominant 2 | |
| Pseudotumor Cerebri | OMIM mapping confirmed by DO. [SN]. |
| Hernias, Diaphragmatic, Congenital | |
| POLYDACTYLY, PREAXIAL II | |
| 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. |
| Myopathy, Distal, with Anterior Tibial Onset | |
| Rhinitis, Allergic | |
| Classical Lissencephalies and Subcortical Band Heterotopias | disease cluster belonging to disease group unknown |
| Glucocorticoid Deficiency 3 | |
| Synpolydactyly 2 | |
| Intrinsic Factor Deficiency | |
| Hyperemia | The presence of an increased amount of blood in a body part or an organ leading to congestion or engorgement of blood vessels. Hyperemia can be due to increase of blood flow into the area (active or arterial), or due to obstruction of outflow of blood from the area (passive or venous).|The presence of an increased amount of blood in a part or organ; engorgement. |
| Hydrocephalus, X-linked | A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head. |
| Alcoholism | |
| 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. |
| Cardiomyopathy, Familial Hypertrophic, 4 | |
| Retinal Artery Occlusion | |
| Gangliosidosis, GM1 | OMIM mapping confirmed by DO. [SN]. |
| Sarcoglycanopathies | |
| Vacuolar Neuromyopathy | |
| Carcinoma, Basal Cell | |
| Larsen-Like Syndrome | |
| NEVER IN MITOSIS GENE A-RELATED KINASE 1 | |
| 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. |
| Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness | |
| Stuttering | An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech. |
| Chromosome 17 deletion | |
| Keratomalacia | |
| Meier-Gorlin syndrome | An autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia and hypoplastic patellae. |
| Oculopalatoskeletal 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. |
| Adenosine monophosphate deaminase deficiency | |
| 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. |
| Cough | A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. |
| Cognition Disorders | |
| Optic atrophy 1 and deafness | |
| Trichotillomania | An impulse control disorder that involves the uncontrollable plucking of ones hair. |
| Hypospadias | A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum. |
| Hypoparathyroidism-retardation-dysmorphism syndrome | |
| Pyruvate Metabolism, Inborn Errors | |
| Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type | |
| Hypophosphatemic Rickets with Hypercalciuria, Hereditary | |
| Usher syndrome, type 2A | |
| Gerodermia osteodysplastica | |
| Sclerosis | |
| Cerebral Amyloid Angiopathy, App-Related | |
| Neurofibromatosis 1 | |
| Neurofibromatosis 2 | |
| Chest Pain | An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. |
| Muscular Dystrophy, Animal | |
| Barrett 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. |
| Von Willebrand disease, platelet type | |
| Psychomotor Agitation | |
| 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. |
| Myopia 3 | |
| Choledocholithiasis | |
| Congenital Disorder Of Glycosylation, Type IIF | Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage. |
| Aortic Aneurysm, Familial Abdominal 1 | An aortic aneurysm that is located_in the abdominal aorta. |
| Neointima | A new or thickened layer of arterial intima formed especially on a prosthesis or in atherosclerosis by migration and proliferation of cells from the media. |
| Laryngeal Diseases | |
| Ossification of the posterior longitudinal ligament of the spine | A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms. |
| Leukemia, Myeloid, Acute | |
| Retinitis Pigmentosa 32 | |
| Retinitis Pigmentosa 33 | |
| 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. |
| Muscle Weakness | Reduced strength of muscles. |
| Retinitis Pigmentosa 36 | |
| Combined Oxidative Phosphorylation Deficiency 2 | |
| Mandibulofacial Dysostosis | OMIM mapping confirmed by DO. [SN]. |
| Hyperglycemia | |
| Fatty Liver | The presence of steatosis in the liver. |
| Intracranial Hemorrhages | |
| STUTTERING, FAMILIAL PERSISTENT, 1 | |
| Thrombophlebitis | A phlebitis that results from a blood clot in the vessel. |
| Ectrodactyly-cleft lip/palate syndrome | |
| Osteoarthritis, Hip | |
| Deafness, X-Linked 5 | |
| 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. |
| Metabolic Syndrome X | OMIM mapping confirmed by DO. [SN]. |
| PROSTATE CANCER, HEREDITARY, 1 | |
| Spherocytosis, Type 1 | |
| Brugada Syndrome 6 | |
| Aneurysm, Intracranial Berry, 3 | |
| Bacteremia | An infection that has as part bacteria located in the blood. |
| Lung Diseases, Interstitial | |
| Thyroid Carcinoma, Nonmedullary 1 | |
| Prader-Willi Syndrome | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| Miyoshi myopathy | Miyoshi myopathy (MM) is a distal myopathy (see this term) characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and is associated with difficulties in standing on tip toes. |
| Cerebrooculofacioskeletal Syndrome 4 | |
| 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. |
| Cerebrooculofacioskeletal Syndrome 2 | |
| Plasminogen Deficiency, Type I | |
| Cerebrooculofacioskeletal Syndrome 1 | |
| Hyperparathyroidism, Secondary | |
| Rh-Null, Regulator Type | |
| Sick Sinus Syndrome 2, Autosomal Dominant | |
| Osteopathia striata cranial sclerosis | Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss. |
| Hyperuricemia | An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood. |
| Congenital disorder of glycosylation type 1A | Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood. |
| Neuropathy, hereditary motor and sensory, Russe type | |
| Deafness, Autosomal Recessive 79 | |
| Fatty Liver, Alcoholic | |
| 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. |
| Infection | The state of being infected such as from the introduction of a foreign agent such as serum, vaccine, antigenic substance or organism. |
| Gait Ataxia | A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. |
| Vestibular Diseases | |
| Hypomagnesemia primary | |
| Wounds, Penetrating | |
| Pemphigoid, Bullous | |
| Cushing Syndrome | An adrenal gland hyperfunction that is caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland. |
| Vasculopathy, Retinal, With Cerebral Leukodystrophy | |
| Scleroderma, Systemic | |
| Congenital disorder of glycosylation, type 2C | |
| Peptic Ulcer Hemorrhage | |
| Craniosynostosis radial aplasia syndrome | |
| MIRROR MOVEMENTS 1 | |
| Welander distal myopathy, Swedish type | |
| Blepharophimosis, Ptosis, and Epicanthus Inversus | |
| Hypotrichosis And Recurrent Skin Vesicles | |
| LEOPARD Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Kidney Diseases | |
| Split hand foot deformity 1 | |
| Hair Diseases | |
| SUPPRESSOR OF TUMORIGENICITY 3 | |
| Parasomnias | |
| Maturity-Onset Diabetes of the Young, Type 1 | |
| Maturity-Onset Diabetes of the Young, Type 2 | |
| Gingival Hyperplasia | |
| Maturity-Onset Diabetes of the Young, Type 4 | |
| Intracranial Hypertension | |
| Lethal Congenital Contracture Syndrome 2 | |
| Parkinson 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. |
| Papillon-Lefevre Disease | OMIM mapping confirmed by DO. [SN]. |
| Signs and Symptoms, Digestive | |
| Diamond-Blackfan Anemia 4 | |
| Corneal Dystrophy, Endothelial, X-Linked | |
| Mental Retardation, X-Linked 77 | |
| Fertile eunuch syndrome | |
| Adams-Stokes Syndrome | |
| Episodic Kinesigenic Dyskinesia 1 | |
| Osteopetrosis, Autosomal Recessive 6 | |
| Chondrodysplasia, acromesomelic, with genital anomalies | |
| Aphakia, congenital primary | OMIM mapping confirmed by DO. [SN]. |
| AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 2 | |
| Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia | |
| IgA Deficiency | A B cell deficiency that is an autosomal recessive disorder caused by mutation in the IgA (CD79 alpha) antigen receptor. |
| 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. |
| USHER SYNDROME, TYPE IID | |
| Deafness, Autosomal Recessive 33 | |
| Hernia, Diaphragmatic | |
| Deafness, Autosomal Recessive 31 | |
| Hypercalcemia | |
| Deafness, Autosomal Recessive 37 | |
| Deafness, Autosomal Recessive 35 | |
| Mental Retardation, X-Linked, Syndromic 13 | |
| Mental Retardation, X-Linked, Syndromic 12 | |
| Deafness, Autosomal Recessive 38 | |
| Deafness, Autosomal Recessive 39 | |
| Chondroma | A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern. |
| Sarcoma, Kaposi | |
| Mental Retardation, X-Linked, Syndromic 14 | |
| 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. |
| 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. |
| Macular Dystrophy, Retinal, 2 | |
| Sick Sinus Syndrome 1, Autosomal Recessive | |
| Heart Injuries | |
| Potocki-Shaffer syndrome | |
| Tongue Neoplasms | |
| Congenital, Hereditary, and Neonatal Diseases and Abnormalities | |
| Gilbert Disease | |
| Aneurysm, Intracranial Berry, 9 | |
| Lipase deficiency combined | |
| Hyperglycinemia, Nonketotic | |
| Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to | |
| Methemoglobinemia Type IV | |
| Ventricular Premature Complexes | |
| Iron Metabolism Disorders | |
| Mitral Valve Prolapse, Myxomatous 3 | |
| Epidermolysis Bullosa Simplex with Migratory Circinate Erythema | |
| Dementia, familial British | |
| Cardiac Conduction Defect | |
| Myocardial Reperfusion Injury | |
| Tremor hereditary essential, 2 | |
| Foot Dermatoses | |
| Paraplegia | |
| Cleft Lip | |
| 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. |
| NOG-Related-Symphalangism Spectrum Disorder | |
| CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 3 | |
| LEOPARD SYNDROME 3 | |
| Noonan Syndrome 2 | |
| DNA Repair-Deficiency Disorders | |
| Exophthalmos | An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit. |
| Leukodystrophy, Hypomyelinating, 4 | |
| Polyposis Syndrome, Hereditary Mixed, 2 | |
| Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive | |
| Hypotonia-Cystinuria Syndrome | Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. |
| Abortion, Spontaneous | |
| Congenital thrombotic disease, due to Protein C deficiency | |
| DEAFNESS, AUTOSOMAL RECESSIVE 83 | |
| Methylmalonic Aciduria and Homocystinuria, CblD Type | |
| Proteus Syndrome | OMIM mapping confirmed by DO. [SN]. |
| MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE | |
| Truncus Arteriosus, Persistent | |
| Mucolipidoses | |
| Nystagmus 2, congenital, autosomal dominant | |
| COLORBLINDNESS, PARTIAL, DEUTAN SERIES | |
| Hypothyroidism, Congenital, Nongoitrous, 3 | |
| Brain Stem Infarctions | |
| Enterokinase Deficiency | |
| 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. |
| Congenital contractural arachnodactyly | |
| Prostate Cancer, Hereditary, 10 | |
| Pulmonary Disease, Chronic Obstructive | |
| Erythromelalgia | |
| Carnitine Palmitoyltransferase II Deficiency, Late-Onset | |
| Catalepsy | a condition characterized by inactivity, lack of response to stimuli, and a tendency to maintain an immobile posture; the limbs tend to remain in whatever position they are placed (waxy rigidity); occurs with some psychoses, nervous system drug toxicity, and other conditions |
| Dysgammaglobulinemia | A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins. |
| MYOPATHY, MYOFIBRILLAR, 1 | |
| NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1 | |
| MYOPATHY, MYOFIBRILLAR, 4 | |
| Methemoglobinemia | |
| MYOPATHY, MYOFIBRILLAR, 6 | |
| Sarcoma, Experimental | |
| Ataxia, Spastic, 3, Autosomal Recessive | |
| Epstein-Barr Virus Infections | Infection with human herpesvirus 4 (HERPESVIRUS 4, HUMAN); which may facilitate the development of various lymphoproliferative disorders. These include BURKITT LYMPHOMA (African type), INFECTIOUS MONONUCLEOSIS, and oral hairy leukoplakia (LEUKOPLAKIA, HAIRY).|A Herpesviridae infectious disease that results_in infection, has_agent Human herpesvirus 4, which is transmitted_by contact with the saliva. |
| THIOUREA TASTING | |
| Pilomatrixoma | OMIM mapping confirmed by DO. [SN]. |
| Optic Atrophy 7 | |
| Tauopathies | |
| Leukoplakia, Oral | |
| Ependymoma | The presence of an ependymoma of the central nervous system. |
| FANCONI ANEMIA, COMPLEMENTATION GROUP E | |
| FANCONI ANEMIA, COMPLEMENTATION GROUP F | |
| Head and Neck Neoplasms | Soft tissue tumors or cancer arising from the mucosal surfaces of the LIP; oral cavity; PHARYNX; LARYNX; and cervical esophagus. Other sites included are the NOSE and PARANASAL SINUSES; SALIVARY GLANDS; THYROID GLAND and PARATHYROID GLANDS; and MELANOMA and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651) |
| THYROID-STIMULATING HORMONE LEVEL QUANTITATIVE TRAIT LOCUS 1 | |
| Hyperbilirubinemia | An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism. |
| Arthrogryposis multiplex congenita neurogenic type | |
| Lactase Deficiency, Congenital | |
| Tooth Abnormalities | |
| 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. |
| Infant, Newborn, Diseases | |
| Periodontal Diseases | |
| Jaundice, Obstructive | |
| Limb-girdle muscular dystrophy type 2F | |
| Pasteurellaceae Infections | |
| Lecithin Acyltransferase Deficiency | OMIM mapping confirmed by DO. [SN]. |
| MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES | |
| Thrombocytopenia | A blood platelet disease characterized by low a platelet count in the blood. |
| Hypervitaminosis A | |
| Vitreoretinopathy, Proliferative | |
| Nance-Horan syndrome | |
| Congenital disorder of glycosylation type 2D | |
| Spinal Curvatures | |
| Alzheimer Disease 14 | |
| Neurilemmoma | |
| Interleukin 2 Receptor, Alpha, Deficiency of | |
| Lipoprotein Glomerulopathy | |
| 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. |
| Coronary Artery Disease, Autosomal Dominant 2 | |
| Hypophosphatemia | |
| ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO | |
| Hypoprothrombinemias | |
| Primary Myelofibrosis | A myeloma that is located_in the bone marrow which results_in bone marrow being replaced by fibrous (scar) tissue. |
| Esophageal Stenosis | An abnormal narrowing of the lumen of the esophagus. |
| 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. |
| Hypospadias 1, X-Linked | |
| Deafness, Autosomal Recessive 40 | |
| Kidney Papillary Necrosis | |
| Inflammatory Bowel Disease 9 | |
| Cyanosis | A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule. |
| Deafness, X-Linked 3 | |
| Nystagmus 4, congenital, autosomal dominant | |
| Kyphoscoliosis 1 | |
| Cystitis, Interstitial | |
| Alzheimer Disease 11 | |
| Neuropathy, Distal Hereditary Motor, Type IIA | |
| Carcinoid Tumors, Intestinal | |
| Beta ketothiolase deficiency | OMIM mapping confirmed by DO. [SN]. |
| THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 | |
| Polyradiculopathy | |
| Primary Ovarian Insufficiency | An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40. |
| Cranioectodermal Dysplasia | OMIM mapping confirmed by DO. [SN]. |
| Transaldolase Deficiency | |
| Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects | |
| Optic Atrophy 4 | |
| 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. |
| Aortic Stenosis, Subvalvular | |
| Williams Syndrome | |
| HIV Wasting Syndrome | |
| Alzheimer Disease 16 | |
| TERMINAL OSSEOUS DYSPLASIA | |
| Anemia, Diamond-Blackfan, 2 | |
| Gingival Hypertrophy | |
| Alzheimer Disease 12 | |
| Jaundice, Neonatal | |
| Alzheimer Disease 10 | |
| Paragangliomas 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. |
| Pyelonephritis | |
| SUPERNUMERARY DER(22)t(8 | |
| Geniospasm | Involuntary and irregular twitches of the chin. |
| Epidermolysis Bullosa, Junctional | |
| Deafness, Autosomal Recessive 46 | |
| Fanconi Anemia, Complementation Group J | |
| Vascular Malformations | |
| Skin Diseases, Vascular | |
| Pleural Neoplasms | |
| Lattice corneal dystrophy type 1 | Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy (see this term) characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations. |
| Anti-plasmin deficiency, congenital | |
| Dermatitis, Atopic, 1 | |
| Dermatitis, Atopic, 3 | |
| Abdominal obesity metabolic syndrome | OMIM mapping confirmed by DO. [SN]. |
| Dermatitis, Atopic, 5 | |
| Uterine Diseases | |
| Dermatitis, Atopic, 7 | |
| 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. |
| Gram-Positive Bacterial Infections | |
| Anxiety Disorders | |
| Narcolepsy 1 | |
| Dystonia musculorum deformans type 2 | |
| Anaplasia | |
| Acidosis, Lactic | |
| 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. |
| Mental Retardation, X-Linked 3 | |
| Nanophthalmos 2 | |
| Charcot-Marie-Tooth disease, X-linked, 1 | |
| Anemia, sideroblastic spinocerebellar ataxia | |
| Amyotrophic Lateral Sclerosis 11 | A type of ALS caused_by mutation located_in FIG4 gene located_in chromosome 6. |
| Carnevale syndrome | |
| Candidiasis familial chronic mucocutaneous, autosomal recessive | |
| Neurodegenerative Diseases | |
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq | |
| Cataract, Juvenile, With Microcornea And Glucosuria | |
| Aortic Aneurysm, Thoracic | |
| Fanconi Anemia, Complementation Group B | |
| Snyder Robinson syndrome | Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed. |
| Paragangliomas 3 | |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive | |
| Thanatophoric Dysplasia, Type I | |
| Torticollis | |
| Deafness, Autosomal Recessive 44 | |
| Osteolysis hereditary multicentric | |
| Klippel-Trenaunay-Weber Syndrome | A rare congenital syndrome characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. |
| Migraine without Aura | A migraine that is characterized by migraine headaches that are not accompanied by an aura. |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4 | |
| Hiccup | |
| Corneal dystrophy, Fuchs' endothelial, 2 | |
| Hairy Ears, Y-Linked | |
| Amnesia, Anterograde | |
| Spastic Paraplegia 7, Autosomal Recessive | |
| Fanconi Anemia, Complementation Group N | |
| Hereditary spastic paralysis, infantile onset ascending | |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9 | |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 8 | |
| Waardenburg Syndrome, Type 2C | |
| Mammary Neoplasms, Animal | |
| 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. |
| Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans | |
| Muscular dystrophy congenital, merosin negative | |
| Gallstones | Solid crystalline precipitates in the BILIARY TRACT, usually formed in the GALLBLADDER, resulting in the condition of CHOLELITHIASIS. Gallstones, derived from the BILE, consist mainly of calcium, cholesterol, or bilirubin. |
| Hypercholesterolemia, Autosomal Recessive | |
| Hypernatremia | An abnormally increased sodium concentration in the blood. |
| Langer mesomelic dysplasia | Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs. |
| Gliosis, Familial Progressive Subcortical | |
| Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant | |
| 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. |
| Parietal Foramina 3 | |
| Heart-hand syndrome, Slovenian type | Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. |
| Male Urogenital Diseases | |
| Deafness, Autosomal Recessive 26 | |
| Infant, Premature, Diseases | |
| Acidosis, Renal Tubular | |
| Amyotrophic Lateral Sclerosis, Sporadic | |
| Lipoma | A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue. |
| Prolonged Electroretinal Response Suppression | |
| FRONTONASAL DYSPLASIA 1 | |
| FRONTONASAL DYSPLASIA 2 | |
| Dermatitis, Atopic, 2 | |
| Lissencephaly, X-Linked, 2 | |
| Macrophthalmia, Colobomatous, with Microcornea | |
| Otitis Media | A otitis which involves inflammation of the middle ear. |
| Cartilage-hair hypoplasia | OMIM mapping confirmed by DO. [SN]. |
| Spinocerebellar Ataxia 11 | |
| Folate Malabsorption, Hereditary | |
| Succinyl-CoA:3-oxoacid CoA transferase deficiency | Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis. |
| Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant | |
| Neurobehavioral Manifestations | Signs and symptoms of higher cortical dysfunction caused by organic conditions. These include certain behavioral alterations and impairments of skills involved in the acquisition, processing, and utilization of knowledge or information. |
| Ventricular Dysfunction | |
| Atrial septal defect 2 | |
| Nemaline myopathy 6 | |
| Spinal muscular atrophy 4 | |
| Spastic paraplegia 4, autosomal dominant | |
| Hyponatremia | An abnormally decreased sodium concentration in the blood. |
| Gonadal Dysgenesis | A hypogonadism that is characterized by a progressive loss of germ cells on the developing gonads of an embryo. |
| Neurotoxicity Syndromes | |
| Charcot-Marie-Tooth Disease, Axonal, Type 2a1 | |
| Ceroid lipofuscinosis, neuronal 1, infantile | |
| Phobic Disorders | |
| Atelosteogenesis type 2 | Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene. |
| 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. |
| Tooth Agenesis, Selective, X-Linked, 1 | |
| Weaver syndrome | OMIM mapping confirmed by DO. [LS]. |
| Polydactyly, Postaxial | Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). |
| Nasal Obstruction | Reduced ability to pass air through the nasal cavity often leading to mouth breathing. |
| Plasmacytoma | |
| Glycogen Storage Disease 0, Muscle | |
| Optic atrophy 5 | |
| CD8 Deficiency, Familial | |
| Hyperlysinemias | |
| Neuraminidase 1 deficiency | |
| Dystonia 13, Torsion | |
| Meningitis, Haemophilus | |
| Neoplasm Metastasis | |
| Fetal Alcohol Spectrum Disorders | |
| Dystonia musculorum deformans type 1 | |
| Drug Hypersensitivity | |
| Renal Tubular Acidosis, Distal, With Hemolytic Anemia | |
| Nanophthalmos 1 | |
| Premature Birth | The birth of a baby of less than 37 weeks of gestational age. |
| Basal ganglia disease, biotin-responsive | |
| HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER | Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. |
| 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. |
| Behcet Syndrome | 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. |
| 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. |
| Blepharophimosis syndrome type 1 | |
| Bullous Dystrophy, Hereditary Macular Type | |
| Polyarteritis Nodosa | |
| AXENFELD-RIEGER SYNDROME, TYPE 1 | |
| EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS | |
| AXENFELD-RIEGER SYNDROME, TYPE 3 | |
| AXENFELD-RIEGER SYNDROME, TYPE 2 | |
| Crouzon Syndrome With Acanthosis Nigricans | |
| Indifference to Pain, Congenital, Autosomal Recessive | |
| Somatoform Disorders | |
| Microsatellite Instability | |
| Moebius syndrome 1 | |
| MEGALOBLASTIC ANEMIA 1 | |
| Bone Marrow Diseases | |
| Myopia 10 | |
| Graves Ophthalmopathy | |
| Diabetes Mellitus, Insulin-Dependent, 24 | |
| Methylmalonic aciduria cblA type | |
| Birth Weight | The mass or quantity of heaviness of an individual at BIRTH. It is expressed by units of pounds or kilograms. |
| Venous Malformations, Multiple Cutaneous and Mucosal | |
| Phagocyte Bactericidal Dysfunction | A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection. |
| Sleep Deprivation | |
| BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA | No OMIM mapping, confirmed by DO. [SN]. |
| Posterior column ataxia with retinitis pigmentosa | |
| Non-alcoholic Fatty Liver Disease | A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use. |
| Sarcoma, Ewing | disease cluster belonging to disease group cancer |
| MONONEUROPATHY OF THE MEDIAN NERVE, MILD | |
| Influenza, Human | |
| Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome | |
| Brachydactyly type A1 | |
| Microphthalmos | |
| Hydroxykynureninuria | |
| Folic Acid Deficiency | |
| Berylliosis | A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds. |
| Goiter, Multinodular 2 | |
| Telangiectasis | |
| 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. |
| Amyloidosis, Hereditary, Transthyretin-Related | 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. |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To | |
| Neutrophilia, Hereditary | |
| Insomnia, Fatal Familial | |
| 46, XY Disorders of Sex Development | |
| Neuromuscular Manifestations | |
| Usher Syndrome, Type IH | |
| Coronary Aneurysm | |
| Dermatitis, Contact | |
| Retinal Dystrophies | |
| 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. |
| Fibroma | |
| Lymphoma, B-Cell | |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia | |
| Dog Diseases | |
| Hypersplenism | |
| BRACHYDACTYLY, TYPE B2 | |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 | |
| Vitamin B 12 Deficiency | A vitamin metabolic disorder that results from low blood levels of vitamin B12. |
| Robinow syndrome, autosomal recessive | |
| Stomatognathic System Abnormalities | |
| Hot Flashes | |
| Diabetic Nephropathies | |
| Embolism, Cholesterol | |
| Thyroid Neoplasms | |
| Liver Cirrhosis, Alcoholic | |
| Dysmenorrhea | Pain during menstruation that interferes with daily activities. |
| MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 | |
| Caudal Duplication Anomaly | |
| Ocular Hypertension | |
| Amelogenesis Imperfecta, Type Ic | |
| Porphyria, South African type | |
| Graves Disease | An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland. |
| Hematuria | The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked | |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A2 | |
| Pancreatitis, Alcoholic | |
| Hematologic Diseases | |
| 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). |
| Arthritis | Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints. |
| Cerebellar Ataxia, Cayman Type | |
| Isolated Growth Hormone Deficiency, Type II | |
| Polyostotic osteolytic dysplasia, hereditary expansile | |
| Reflex Sympathetic Dystrophy | OMIM mapping confirmed by DO. [SN]. |
| Radiation Injuries | |
| Deafness, Autosomal Recessive 27 | |
| ATRIOVENTRICULAR SEPTAL DEFECT 3 | |
| Spinal Dysraphism | OMIM mapping confirmed by DO. [LS]. |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency | |
| Urinary Bladder, Neurogenic | |
| Deafness, Autosomal Recessive 22 | |
| SEIZURES, BENIGN FAMILIAL NEONATAL, 2 | |
| Pituitary dwarfism 1 | |
| Reflex, Abnormal | |
| 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. |
| Bronchiectasis With Or Without Elevated Sweat Chloride 1 | |
| Bronchiectasis With Or Without Elevated Sweat Chloride 2 | |
| Bronchiectasis With Or Without Elevated Sweat Chloride 3 | |
| Blister | |
| Familial HDL deficiency | |
| Corneal Dystrophy, Crystalline, of Schnyder | |
| Postoperative Nausea and Vomiting | Emesis and queasiness occurring after anesthesia. |
| Fg Syndrome 5 | |
| Ptosis, Hereditary Congenital 1 | |
| Pain, Postoperative | |
| Afibrinogenemia | |
| Hepatic Veno-Occlusive Disease | |
| Plaque, Atherosclerotic | |
| Oligomenorrhea | Infrequent menses (less than 6 per year or more than 35 days between cycles). |
| Panniculitis, Nodular Nonsuppurative | |
| Familial dermographism | |
| FRONTONASAL DYSPLASIA 3 | |
| Candidiasis, Familial, 3 | |
| Hepatic venoocclusive disease with immunodeficiency | |
| Inflammatory Bowel Disease 25, Autosomal Recessive | |
| Ameloblastoma | A cell type benign neoplasm that has_material_basis_in odontogenic epithelium. |
| Dermatitis, Atopic, 4 | |
| Pleural Diseases | |
| Maxillary Neoplasms | |
| Bone Diseases, Metabolic | |
| Low Back Pain | An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back. |
| MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME | |
| 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. |
| 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. |
| Keratoconus 4 | |
| Skin Ulcer | A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. |
| Shellfish Poisoning | |
| Keratoconus 1 | |
| Brain Edema | |
| Keratoconus 3 | |
| Scleroatonic muscular dystrophy | |
| Lathosterolosis | Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease. |
| Ichthyosis, Lamellar, 5 | |
| Chondrodysplasia punctata, brachytelephalangic | |
| Hypotension, Orthostatic | |
| Pain Insensitivity, Congenital | |
| Myopathy with lactic acidosis and sideroblastic anemia | |
| Cone Dystrophy 3 | |
| Melorheostosis | An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex. |
| Oligodontia-Colorectal Cancer Syndrome | |
| 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. |
| Anophthalmos | |
| Retinitis Pigmentosa 42 | |
| Macular Degeneration, Age-Related, 9 | |
| Fanconi Anemia | A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. |
| Deafness, Aminoglycoside-Induced | |
| Macular Degeneration, Age-Related, 3 | |
| Macular Degeneration, Age-Related, 2 | |
| Macular Degeneration, Age-Related, 1 | |
| Malpuech facial clefting syndrome | |
| Macular Degeneration, Age-Related, 7 | |
| 46,XY SEX REVERSAL 1 | |
| Endocarditis, Bacterial | |
| Leukemia, Plasma Cell | |
| 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. |
| Nemaline myopathy 1 | |
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi | Congenital disorder of glycosylation type IIi (CDG-IIi) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia. |
| Galactorrhea-Hyperprolactinemia | |
| Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative | |
| MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE | |
| Femoral Fractures | |
| Anemia, Hemolytic | |
| Dermatitis, Atopic, 6 | |
| Infantile polyarteritis | |
| Landau-Kleffner Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Corneal dystrophy, Fuchs' endothelial, 1 | |
| Hypoproteinemia, Hypercatabolic | |
| Lubs X-linked mental retardation syndrome | |
| Stargardt disease 3 | |
| Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells | |
| Waardenburg Syndrome, Type 4b | |
| Waardenburg Syndrome, Type 4c | |
| Multiple Synostoses Syndrome 3 | |
| Stargardt disease 4 | |
| Split-Hand/Foot Malformation 6 | |
| Episodic ataxia with nystagmus | |
| Sleep Apnea, Obstructive | |
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 | |
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 | |
| Carcinoma, Ehrlich Tumor | |
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 | |
| Diabetes Mellitus, Insulin-Dependent, 23 | |
| Schnitzler Syndrome | |
| Hyperphagia | A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat. |
| Mental Disorders | |
| ATELOSTEOGENESIS, TYPE III | Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings. |
| Optic Atrophies, Hereditary | |
| MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION | |
| Arnold-Chiari Malformation | Arnold-Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow. |
| Hypotension | Blood pressure that is abnormally low. |
| Turcot syndrome | |
| Li-Fraumeni Syndrome 2 | |
| Oculodigitoesophagoduodenal syndrome | |
| Respiratory Tract Infections | |
| Arthralgia | Joint pain. |
| Glycogen Storage Disease Type IV | |
| Joubert syndrome 2 | |
| Joubert syndrome 3 | |
| Hypoparathyroidism, X-Linked | |
| Joubert syndrome 1 | |
| Joubert syndrome 6 | |
| Pulmonary Emphysema | |
| Occupational Diseases | |
| Joubert syndrome 5 | |
| Patterned dystrophy of retinal pigment epithelium | |
| Heterotopia, Periventricular, Ehlers-Danlos Variant | |
| Heavy Metal Toxicity | |
| Aneurysm, Intracranial Berry, 4 | |
| Heart Septal Defects | |
| Eyelid Diseases | |
| 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. |
| Fibromatosis, gingival, 3 | |
| LIVER FAILURE, INFANTILE, TRANSIENT | |
| Refsum Disease, Infantile | |
| Sleep Apnea Syndromes | |
| Affective Disorders, Psychotic | |
| Astrocytoma | A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.|Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation (MeSH).|Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082) |
| Bulbospinal neuronopathy, X-linked recessive | |
| Hypoventilation | A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide). |
| Schimke immunoosseous 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. |
| Epidermolysis bullosa with pyloric atresia | |
| Hypercholesterolemia, Autosomal Dominant, 3 | |
| Trifunctional Protein Deficiency With Myopathy And Neuropathy | |
| Corneal Dystrophy, Lisch Epithelial | |
| MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY | |
| Ectodermal Dysplasia | Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. |
| Conduct Disorder | A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated. |
| Biliary Atresia | A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder. |
| Paranoid Disorders | |
| Kernicterus | |
| Spinocerebellar ataxia 26 | |
| ACTH Syndrome, Ectopic | |
| Mental Retardation, Fra12a Type | |
| Granuloma, Foreign-Body | |
| Tooth Loss | |
| Homozygous 11p15-p14 Deletion Syndrome | |
| Prenatal Exposure Delayed Effects | |
| 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. |
| Nemaline myopathy 5 | |
| Learning Disorders | |
| DEAFNESS, AUTOSOMAL RECESSIVE 8 | |
| Lipodystrophy, Partial, Acquired | |
| Pentalogy of Cantrell | |
| Brachydactyly-Syndactyly Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Polycystic liver disease | |
| HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D | |
| Diffuse panbronchiolitis | Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis |
| Immunodeficiency without anhidrotic ectodermal dysplasia | |
| HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C | |
| Clubfoot | OMIM mapping confirmed by DO. [SN]. |
| Liver Cirrhosis, Experimental | |
| Peliosis Hepatis | |
| Spinocerebellar ataxia 28 | |
| VACTERL hydrocephaly | |
| Craniofrontonasal dysplasia | OMIM mapping confirmed by DO. [SN]. |
| Menorrhagia | Excessive uterine bleeding during MENSTRUATION. |
| Ventricular Fibrillation | Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations. |
| Congenital disorder of glycosylation type 1G | |
| Temporomandibular Joint Dysfunction Syndrome | |
| Hyperlipoproteinemia Type I | |
| HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE | |
| FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED | |
| Hyperlipoproteinemia Type V | OMIM mapping confirmed by DO. [SN]. |
| Keratitis, Ichthyosis, and Deafness (KID) Syndrome | |
| Torsion dystonia 7 | |
| PARKINSON DISEASE 8, AUTOSOMAL DOMINANT | |
| Limb-girdle muscular dystrophy, type 2C | |
| Limb-girdle muscular dystrophy, type 2B | |
| Corneal dystrophy, epithelial basement membrane | |
| Acrocephalosyndactylia | A synostosis that results_in craniosynostosis and syndactyly. |
| 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. |
| Spastic paraplegia type 5B, recessive | |
| Mobility Limitation | |
| Deafness, Autosomal Recessive 62 | |
| Thrombocytopenia 1 | |
| Radiation Injuries, Experimental | |
| Spastic Paraplegia 31, Autosomal Dominant | |
| Osteopetrosis | An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones. |
| Bifid Nose With Or Without Anorectal And Renal Anomalies | BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms). |
| Absent corpus callosum cataract immunodeficiency | |
| Spastic paraplegia 16, X-linked | |
| 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. |
| Urinary Retention | Inability to completely empty the urinary bladder during the process of urination. |
| Neisseriaceae Infections | |
| Telangiectasia, Hereditary Hemorrhagic | |
| Lymphoma, T-Cell, Cutaneous | |
| Waardenburg Syndrome | An autosomal disease characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes. |
| Periventricular Nodular Heterotopia | A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain. |
| Holoprosencephaly 8 | |
| Bazex-Dupre-Christol syndrome | |
| Hypertrophy, Right Ventricular | |
| Brachyolmia Type 3 | Brachyolmia type 3 is an autosomal dominant,mildly severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, platyspondyly and severe kyphoscoliosis. |
| Hypothermia | Reduced body temperature due to failed thermoregulation. |
| Ectopia Lentis | Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation. |
| DEAFNESS, AUTOSOMAL DOMINANT 4A | |
| 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. |
| Erythrocytosis, Familial, 3 | |
| Erythrocytosis, Familial, 2 | |
| 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. |
| Genetic Predisposition to Disease | |
| Asphyxia Neonatorum | |
| Metrorrhagia | Bleeding at irregular intervals. |
| Dimauro disease | |
| Spastic Paraplegia 42, Autosomal Dominant | |
| PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE | |
| Mucopolysaccharidosis II | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase. |
| Arthritis, Experimental | |
| Spinal muscular atrophy with respiratory distress 1 | |
| Adrenal Hyperplasia, Congenital | |
| Methylcobalamin Deficiency, CblG Type | |
| Capillary Malformation-Arteriovenous Malformation | |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 | |
| Flaujeac factor deficiency | |
| Genital Neoplasms, Female | |
| Spondylitis, Ankylosing | |
| Hernia, Ventral | |
| Kyphosis | Exaggerated anterior convexity of the thoracic vertebral column. |
| Torsades de Pointes | A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG. |
| Hydrops Fetalis | The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. |
| Spastic Paraplegia 33, Autosomal Dominant | |
| Oculodentodigital Dysplasia | NT MGI. |
| Exanthema | |
| Glaucoma 3, primary infantile, B | |
| Lung Diseases, Obstructive | |
| Glycogen Storage Disease IXB | |
| Sebaceous Gland Neoplasms | |
| Mastocytosis, Cutaneous | |
| 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. |
| Leukemia, T-Cell | |
| Pigmentary Disorder, Reticulate, with Systemic Manifestations | |
| Pancytopenia | |
| Agranulocytosis | |
| Anal sphincter dysplasia | |
| HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 | |
| Ribose 5-Phosphate Isomerase Deficiency | |
| Varicocele | |
| NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B | |
| Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis | |
| Slowed Nerve Conduction Velocity, Autosomal Dominant | |
| Coronary 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. |
| Glutathionuria | |
| Muscular Dystrophy, Limb-Girdle, Type 2J | |
| Myotonia Congenita | OMIM mapping confirmed by DO. [SN]. |
| Neoplasms, Experimental | |
| Brain Infarction | |
| Cardiomyopathy, Alcoholic | |
| Kearns-Sayre Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Bartter syndrome, type 3 | Classic Bartter syndrome is a type of Bartter syndrome (see this term), characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. |
| Xanthinuria, Type I | |
| Mitral Valve Prolapse, Myxomatous 2 | |
| PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY | |
| Chilblain lupus | |
| Metabolism, Inborn Errors | |
| Epidermolysis Bullosa Dystrophica Neurotrophica | |
| Anemia, Hypoplastic, Congenital | |
| AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM | |
| Pemphigus | |
| Parkinson Disease, Secondary | |
| CATARACT 32, MULTIPLE TYPES | |
| Van Maldergem Wetzburger Verloes syndrome | |
| Aberrant Crypt Foci | a neoplastic lesion in which large, thick clusters of abnormal tube-like glands are found in the lining of the colon and rectum; aberrant crypt foci are precursors of colorectal polyps, adenoma and colon cancer |
| Anal Canal Carcinoma | An anal canal cancer that derives_from epithelial cells. |
| Dystonia 17, Torsion, Autosomal Recessive | |
| Ischemic Attack, Transient | |
| Histiocytic Disorders, Malignant | |
| Branchiootic Syndrome 3 | |
| Neuronopathy, Distal Hereditary Motor, Type V | |
| Agammaglobulinemia | A B cell deficiency that is caused by a reduction in all types of gamma globulins. |
| Cardiac Output, Low | |
| Mental Retardation, X-Linked, with Short Stature | |
| Carcinosarcoma | A mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. |
| Eye Abnormalities | disease cluster belonging to disease group vision |
| Epilepsy | A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions. |
| Carcinogenesis | |
| Growth Disorders | |
| Osteitis Deformans | 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. |
| Mitochondrial Diseases | |
| Meningococcal Infections | Infections with bacteria of the species NEISSERIA MENINGITIDIS. |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1e | |
| Labor Pain | |
| Mason-Type Diabetes | A genetic disease that has_material_basis_in mutations in the MODY genes disrupting insulin production. |
| Spastic paraplegia 17 | |
| Retinitis Pigmentosa 11 | |
| Bone Diseases, Developmental | |
| Retinitis Pigmentosa 14 | |
| Gallbladder Diseases | |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type | |
| Charcot-Marie-Tooth Disease, Type 4j | |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy | |
| Myotilinopathy | |
| Spastic paraplegia 11, autosomal recessive | |
| Postoperative Complications | |
| Hematoma, Subdural | |
| Heroin Dependence | An opiate dependence that involves the continued use of heroin despite problems related to use of the substance. |
| Osteogenesis imperfecta, type 7 | |
| Lipodystrophy, Congenital Generalized | |
| 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). |
| Mutism | A speech disorder that involves a complete inability to speak. |
| Diabetic Angiopathies | |
| Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome | |
| Leiomyoma | A cell type benign neoplasm that is a benign tumor of smooth muscle cells. |
| Corneal dystrophy and perceptive deafness | |
| Kidney Tubular Necrosis, Acute | |
| Visceral Myopathy, Familial | |
| Charcot-Marie-Tooth Disease, Dominant Intermediate A | |
| Hyperthyroidism, Familial Gestational | |
| Anemia, Diamond-Blackfan | |
| Nephrocalcinosis | |
| Hematuria, Benign Familial | |
| Hepatic Encephalopathy | |
| Exostoses, Multiple Hereditary | |
| Facial Paralysis | |
| CAROTID INTIMAL MEDIAL THICKNESS 2 | |
| Cholestasis, Intrahepatic | |
| Pyruvate dehydrogenase phosphatase deficiency | Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period. |
| VLCAD 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. |
| Cardiomegaly | Increased size of the heart. |
| MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10 | |
| Central Nervous System Infections | |
| Bone Cysts, Aneurysmal | |
| Myelodysplastic Syndromes | |
| Tracheoesophageal Fistula | An abnormal connection (fistula) between the esophagus and the trachea. |
| Premature Ovarian Failure 3 | |
| Premature Ovarian Failure 5 | |
| Deafness, Autosomal Recessive, 24 | |
| Premature Ovarian Failure 7 | |
| VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY | |
| Winkelman Bethge Pfeiffer syndrome | |
| Stress Disorders, Post-Traumatic | |
| Cardiomyopathy, Dilated | |
| Prostate Cancer, Hereditary, X-Linked 2 | |
| Pelvic Organ Prolapse | Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. |
| Ciliary Dyskinesia, Primary, 9 | |
| Brain Stem Neoplasms | |
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE | |
| 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. |
| Eye Diseases | |
| SEIZURES, BENIGN FAMILIAL INFANTILE, 2 | |
| Amyloidosis IX | |
| Immunoblastic Lymphadenopathy | |
| 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. |
| Retinal Diseases | |
| Uterine Hemorrhage | presence of bleeding in the uterus; often in response to failed pregnancy |
| Seizures, Febrile | |
| Intervertebral Disc Degeneration | The presence of degenerative changes of intervertebral disk. |
| Diabetes Mellitus, Insulin-Dependent, 15 | |
| Hirschsprung Disease | A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel. |
| Diabetes Mellitus, Insulin-Dependent, 13 | |
| Diabetes Mellitus, Insulin-Dependent, 12 | |
| Diabetes Mellitus, Insulin-Dependent, 11 | |
| Vision Disorders | |
| Revesz Debuse 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. |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 | |
| Anauxetic dysplasia | OMIM mapping confirmed by DO. [SN]. |
| Diabetes Mellitus, Insulin-Dependent, 19 | |
| Diabetes Mellitus, Insulin-Dependent, 18 | |
| Bruck syndrome 1 | |
| Bruck syndrome 2 | |
| Aortic Aneurysm, Abdominal | |
| Epilepsy, Idiopathic Generalized | disease cluster belonging to disease group neurological |
| 18-Hydroxylase deficiency | |
| Pleurisy | A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs. |
| Alveolitis, Extrinsic Allergic | |
| Congenital hypertrichosis lanuginosa | |
| Syndactyly | A synostosis that results_in the fusion of two or more digits. |
| Sarcoidosis | A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs. |
| Krause-Kivlin 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. |
| Heart Rupture, Post-Infarction | |
| MERRF Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Bpes With Duane Retraction Syndrome | |
| Muscular Dystrophy, Emery-Dreifuss | |
| Hamartoma Syndrome, Multiple | |
| Pulmonary Eosinophilia | |
| Leber Congenital Amaurosis 10 | |
| Polycystic Kidney, Autosomal Recessive | |
| Mercury Poisoning | |
| Bare Lymphocyte Syndrome, Type I | OMIM mapping confirmed by DO. [SN]. |
| MENTAL HEALTH WELLNESS 1 | |
| Flavivirus Infections | |
| Testicular Neoplasms | |
| Encephalomyelitis, Autoimmune, Experimental | An experimental animal model for central nervous system demyelinating disease. Inoculation with a white matter emulsion combined with FREUND'S ADJUVANT, myelin basic protein, or purified central myelin triggers a T cell-mediated immune response directed towards central myelin. The pathologic features are similar to MULTIPLE SCLEROSIS, including perivascular and periventricular foci of inflammation and demyelination. Subpial demyelination underlying meningeal infiltrations also occurs, which is also a feature of ENCEPHALOMYELITIS, ACUTE DISSEMINATED. Passive immunization with T-cells from an afflicted animal to a normal animal also induces this condition. (From Immunol Res 1998;17(1-2):217-27; Raine CS, Textbook of Neuropathology, 2nd ed, p604-5) |
| Peritoneal Fibrosis | |
| Helicobacter Infections | |
| Creatine deficiency, X-linked | |
| Streptococcal Infections | |
| VESICOURETERAL REFLUX 3 | |
| SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 3 | |
| Gitelman Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Mitochondrial Complex III Deficiency | |
| Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction | |
| Vasculitis, Central Nervous System | |
| Cri-du-Chat Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Leydig Cell Hypoplasia | |
| Neuroacanthocytosis | |
| Neutrophil Chemotactic Response, Abnormal | |
| Osteopetrosis with renal tubular acidosis | Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications. |
| Spinocerebellar Ataxia, Autosomal Recessive 9 | |
| Spinocerebellar Ataxia, Autosomal Recessive 8 | |
| Mental Retardation, Skeletal Dysplasia, and Abducens Palsy | |
| Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1 | |
| Fetal Growth Retardation | slow or limited development during the fetal period (sensu Mus: from E14 through birth) |
| 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. |
| PROPROTEIN CONVERTASE 1/3 DEFICIENCY | |
| Porphyria Cutanea Tarda | An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin. |
| SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE | |
| LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY | |
| Amish Infantile Epilepsy Syndrome | |
| Histiocytoma, Benign Fibrous | |
| Febrile Convulsions, Familial, 2 | |
| Idiopathic dilation cardiomyopathy | |
| 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. |
| Jacobsen Distal 11q Deletion Syndrome | |
| Rheumatoid Arthritis, Systemic Juvenile | |
| 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. |
| Respiration Disorders | |
| Mulibrey Nanism | OMIM mapping confirmed by DO. [SN]. |
| Meckel syndrome type 2 | |
| Spastic paraplegia 10, autosomal dominant | |
| Echo Virus 11 Sensitivity | |
| Hyalinosis, Systemic | |
| Keratoconus 2 | |
| Hypopituitarism and septooptic 'dysplasia' | |
| Chromosome 2q37 deletion syndrome | |
| GALLBLADDER DISEASE 1 | |
| Diabetes Mellitus, Transient Neonatal, 3 | |
| Diabetes Mellitus, Transient Neonatal, 1 | |
| dopamine beta hydroxylase deficiency | |
| ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 3 | |
| Dysgeusia | |
| 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. |
| ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7 | |
| Cell Transformation, Neoplastic | |
| ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5 | |
| Telomeric 22q13 Monosomy Syndrome | |
| ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 8 | |
| AUTISM, SUSCEPTIBILITY TO, X-LINKED 1 | |
| Paratuberculosis | |
| Renal Artery Obstruction | |
| Pancreatic Neoplasms | |
| Brain Neoplasms | |
| Mental Retardation, X-Linked 20 | |
| Mental retardation X-linked syndromic 7 | |
| 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. |
| Renal tubular acidosis, distal, autosomal recessive | |
| Mental Retardation, Autosomal Dominant 3 | |
| Keratitis | |
| Mental Retardation, Autosomal Dominant 5 | |
| Mental Retardation, Autosomal Dominant 4 | |
| URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4 | |
| Parietal Foramina 2 | |
| Spastic Paraplegia 44, Autosomal Recessive | |
| Arthritis, Infectious | |
| 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. |
| Osler-rendu-weber syndrome 3 | |
| Ehlers-Danlos syndrome caused by tenascin-X deficiency | |
| Spastic paraplegia 2, X-linked | |
| Acute Disease | |
| Urogenital Abnormalities | The presence of any abnormality of the genitourinary system. |
| 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. |
| ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 | |
| Spastic paraplegia 25, autosomal recessive | |
| Ehlers-Danlos Syndrome, Type VIII | |
| Candidiasis, Vulvovaginal | |
| Migraine, Familial Hemiplegic, 3 | |
| Hepatitis | |
| Sciatic Neuropathy | PRISM. |
| PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL | |
| Status Epilepticus | |
| Schopf-Schulz-Passarge Syndrome | |
| Hypothyroidism, Congenital, Nongoitrous, 2 | |
| Taste Disorders | |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps | |
| Dyskinesias | |
| Chloracne | |
| FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 | |
| 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. |
| Pituitary ACTH Hypersecretion | |
| NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A | |
| Craniopharyngioma | |
| 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. |
| Cancer, Familial, with In Vitro Radioresistance | |
| Ileus | |
| Thyroid cancer, Hurthle cell | |
| Granuloma | |
| Apparent mineralocorticoid excess | Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism. |
| Neuronopathy, Distal Hereditary Motor, Type IIB | |
| T-Lymphocytopenia | An abnormally low count of T cells. |
| Parkinson Disease 3, Autosomal Dominant Lewy Body | |
| Renal hypouricemia | |
| Amyotrophic Lateral Sclerosis 4, Juvenile | A type of ALS with juvenile onset caused_by mutation located_in senataxin gene (SETX) located_in chromosome 9. |
| Situs Inversus | OMIM mapping confirmed by DO. [LS]. |
| Weight Gain | |
| Simpson-Golabi-Behmel Syndrome, Type 2 | |
| Burns, Chemical | |
| Brain Small Vessel Disease with Hemorrhage | |
| Epileptic encephalopathy, Lennox-Gastaut type | |
| Li-Fraumeni Syndrome 3 | |
| Scapuloperoneal Myopathy, X-Linked Dominant | |
| Growth mental deficiency syndrome of Myhre | |
| Leukemia, Megakaryoblastic, of Down Syndrome | |
| Hearing Disorders | |
| Rosselli-Gulienetti Syndrome | Rosselli-Gulienetti syndrome is a type of ectodermal dysplasia characterized by anhidrosis, hypotrichosis, cleft and lip palate, microdontia and syndactyly. |
| 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. |
| Mesothelioma, Malignant | |
| Split-Hand/Foot Malformation With Long Bone Deficiency 2 | |
| Myopathy, Hyaline Body, Autosomal Recessive | |
| Myopathy, Congenital, Compton-North | |
| Seminoma | A germinoma that has_material_basis_in cells that make sperm and eggs. |
| Ornithine Carbamoyltransferase Deficiency Disease | |
| Seborrhea-Like Dermatitis with Psoriasiform Elements | |
| Albinism, Oculocutaneous | |
| Synpolydactyly 1 | |
| Prune Belly Syndrome | |
| Paraparesis, Spastic | |
| Heterotaxy, visceral, X-linked | |
| Dysequilibrium syndrome | |
| Fraser Syndrome | |
| Carcinoma, Merkel Cell | |
| Angioma serpiginosum, X-linked | |
| 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). |
| Polycystic Kidney, Autosomal Dominant | |
| Mental Retardation, X-Linked 17 | |
| Leber Congenital Amaurosis 3 | |
| Protein Deficiency | |
| Gliosis | The presence of gliosis in the central nervous system. |
| Ciliary Dyskinesia, Primary, 7 | |
| Optic Nerve Hypoplasia, Bilateral | |
| NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA | |
| Phencyclidine Abuse | A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences. |
| Glycogen Storage Disease, Type IXD | Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance. |
| Mouth Diseases | |
| Renpenning syndrome 1 | |
| Exudative Vitreoretinopathy 3 | |
| Short QT Syndrome 1 | |
| Short QT Syndrome 3 | |
| Short QT Syndrome 2 | |
| Thymus Neoplasms | |
| Methylmalonic acidemia | An organic acidemia that involves an accumulation of methylmalonic acid in the blood. |
| Joubert Syndrome 10 | |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities | |
| Infarction, Middle Cerebral Artery | |
| Factor 8 deficiency, acquired | |
| Febrile Convulsions, Familial, 5 | |
| Ehlers-Danlos syndrome type 3 | Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations. |
| Ehlers-Danlos syndrome type 2 | |
| Ehlers-Danlos syndrome type 1 | |
| 3-methylcrotonyl CoA carboxylase 2 deficiency | |
| Hypoparathyroidism familial isolated | |
| Ehlers-Danlos syndrome type 6 | |
| Odontoonychodermal dysplasia | |
| Rhabdomyosarcoma, Embryonal | |
| Finnish lethal neonatal metabolic syndrome | |
| Congenital Disorder of Glycosylation, Type Io | Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy. |
| Myoclonus | Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. |
| Mental Retardation, X-Linked, Syndromic, Jarid1c-Related | |
| Hyperlipoproteinemias | |
| Retinitis Pigmentosa 29 | |
| Hepatitis B, Chronic | |
| Gonadal Dysgenesis, 46,XX | |
| MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY | |
| Cysts | |
| Coronary Occlusion | |
| Hypercalciuria | |
| KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT | |
| Reticulocytosis | An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. |
| Atherosclerosis | A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA. |
| COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I | |
| Weill-Marchesani Syndrome | An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. |
| PARKINSON DISEASE 5, AUTOSOMAL DOMINANT | |
| Adenylosuccinate lyase deficiency | Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is an autosomal recessive inherited disorder of purine metabolism. Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy. |
| Usher syndrome, type 1B | |
| Endomyocardial Fibrosis | |
| Wernicke Encephalopathy | |
| Aphasia | A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language. |
| Usher syndrome, type 1D | |
| GLYCOGEN STORAGE DISEASE IXa1 | |
| Atrophy | |
| Hypomagnesemia 5, Renal, with Ocular Involvement | |
| Ichthyosis Bullosa of Siemens | Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth. |
| Megalencephaly | Enlargement of all or parts of the cerebral hemispheres. |
| Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria | |
| Bleeding Disorder, East Texas Type | |
| Muscular Atrophy | |
| Trismus | Limitation in the ability to open the mouth. |
| 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. |
| Sneezing | The sudden, forceful, involuntary expulsion of air from the NOSE and MOUTH caused by irritation to the MUCOUS MEMBRANES of the upper RESPIRATORY TRACT. |
| Dystonia 15, myoclonic | |
| Candidiasis, Oral | |
| Nail Diseases | |
| MACULAR DYSTROPHY, RETINAL, 3 | |
| 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. |
| Neurofibroma, Plexiform | |
| HETEROTAXY, VISCERAL, 5, AUTOSOMAL | |
| SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE | |
| Amenorrhea | |
| CATSHL syndrome | |
| Pallidopyramidal syndrome | |
| Acidemia, isovaleric | |
| Heart Valve Diseases | |
| Hernia, Umbilical | |
| Sacroiliitis | |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive | |
| Ovarian Diseases | |
| Neurofibrosarcoma | |
| Giant Cell Tumor of Bone | A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts. |
| Isaacs Syndrome | A neuromuscular disease characterized by sporadic bouts of ataxia with or without continuous muscle movement. |
| VACTERL association with hydrocephaly, X-linked | |
| 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. |
| Lymphoma, AIDS-Related | |
| Meningitis, Cryptococcal | |
| Focal Segmental Glomerulosclerosis 2 | |
| AIDS-related Kaposi sarcoma | |
| Microphthalmia, syndromic 1 | |
| Fructose Intolerance | |
| Osseous Heteroplasia, Progressive | |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 11 | |
| SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 4 | |
| 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) |
| THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT | |
| Serum Sickness | |
| Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant | |
| Brunner Syndrome | |
| Tumoral Calcinosis, Hyperphosphatemic, Familial | |
| Leukemia, Myelomonocytic, Acute | |
| Intrahepatic Cholestasis of Pregnancy | Xref MGI. |
| Alopecia, Androgenetic, 2 | |
| Farber Lipogranulomatosis | OMIM mapping confirmed by DO. [SN]. |
| Diabetic Neuropathies | |
| Cartilage Diseases | |
| Lactose Intolerance, Adult Type | |
| Spondylometaphyseal dysplasia, Kozlowski type | |
| Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of | |
| Ciliary Dyskinesia, Primary, 8 | |
| Hyperphenylalaninemia, BH4-Deficient, B | |
| Esophagitis | |
| 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. |
| Leukemia, Erythroblastic, Acute | |
| Pseudohypoparathyroidism | OMIM mapping confirmed by DO. [SN]. |
| Kenny-Caffey syndrome, Type 1 | |
| 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. |
| Glycogen Storage Disease XII | |
| Hyperargininemia | An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine. |
| Nerve Sheath Neoplasms | |
| Myopathy, X-Linked, With Postural Muscle Atrophy | |
| Cystitis | |
| Coronary Restenosis | |
| Cutis Laxa, Autosomal Recessive, Type IIA | |
| Hay-Wells syndrome | Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate. |
| Anisometropia | |
| Cutis Laxa, Autosomal Recessive, Type IIB | |
| Thyroid Carcinoma, Anaplastic | |
| Oliguria | Low output of urine, clinically classified as an output below 300-500ml/day. |
| Synesthesia | |
| Obesity, Abdominal | |
| Thiopurine S methyltranferase deficiency | |
| Legionnaires' Disease | A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough. |
| Glucose Intolerance | |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency | |
| Calcification of Joints and Arteries | |
| Supranuclear Palsy, Progressive, 2 | |
| Diplopia | Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. |
| Neoplasms, Unknown Primary | |
| 3-Hydroxyacyl-CoA Dehydrogenase Deficiency | |
| Supranuclear Palsy, Progressive, 3 | |
| Bothnia Retinal Dystrophy | OMIM mapping confirmed by DO. [SN]. |
| Pyloric Stenosis, Infantile Hypertrophic, 4 | |
| X-linked mental retardation Gustavson type | |
| CHOANAL ATRESIA AND LYMPHEDEMA | |
| Microphthalmia, Isolated, with Coloboma 2 | |
| Colitis, Ischemic | |
| 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency | |
| Dyslipidemias | |
| Hemosiderosis | An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload. |
| Pericarditis | A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain. |
| Marijuana Abuse | A substance abuse that involves the recurring use of cannabis despite negative consequences. |
| Porphyria, Acute Intermittent | |
| Polymicrogyria With Optic Nerve Hypoplasia | |
| Glaucoma 1, Open Angle, J | |
| LIG4 Syndrome | 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. |
| Mandibular Neoplasms | |
| Leukocytosis | An abnormal increase in the number of leukocytes in the blood. |
| Hepatorenal form of glycogen storage disease | |
| Photosensitivity Disorders | |
| Congenital central hypoventilation syndrome | disease cluster belonging to disease group developmental |
| Angina, Unstable | |
| Enterocolitis | An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine). |
| Spastic paraplegia 15, autosomal recessive | |
| Pyloric Stenosis, Infantile Hypertrophic, 2 | |
| VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 | |
| 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). |
| Schindler Disease, Type I | |
| Isolated Growth Hormone Deficiency, Type IB | |
| Histiocytosis | A lymphatic system disease that is characterized by an excessive number of histiocytes. |
| Deafness, Autosomal Dominant 53 | |
| Jansen type metaphyseal chondrodysplasia | |
| Vitamin A Deficiency | |
| Somnambulism | |
| Molybdenum cofactor deficiency | Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase. |
| Congenital Disorder Of Glycosylation, Type Im | |
| Congenital Disorder Of Glycosylation, Type In | |
| Diabetes Mellitus, Insulin-Dependent, 22 | |
| Diabetes Complications | |
| Diabetes Mellitus, Insulin-Dependent, 20 | |
| Cholestasis | |
| Amish lethal microcephaly | Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year. |
| Scimitar Syndrome | |
| Postoperative Hemorrhage | |
| Pulmonary Veno-Occlusive Disease | OMIM mapping confirmed by DO. [SN]. |
| Vulvar Neoplasms | |
| Osteoporosis, Postmenopausal | Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency. |
| OVARIAN DYSGENESIS 1 | |
| Split-Hand/Foot Malformation With Long Bone Deficiency 3 | |
| Simpson-Golabi-Behmel syndrome | An X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities. |
| 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). |
| Diabetes, Gestational | |
| Maxillofacial Abnormalities | |
| Miosis | Abnormal (non-physiological) constriction of the pupil. |
| Amyotrophic Lateral Sclerosis 3 | A type of ALS with loci associated with the disease located_in chromosome 18. |
| 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. |
| Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis | |
| Amyotrophic Lateral Sclerosis 7 | A type of ALS with loci associated with the disease located_in chromosome 20. |
| Amyotrophic Lateral Sclerosis 8 | A type of ALS caused_by mutation located_in VAPB gene located_in chromosome 20. |
| Amyotrophic Lateral Sclerosis 9 | A type of ALS caused_by mutation located_in ANG gene located_in chromosome 14. |
| Phosphoglycerate Kinase 1 Deficiency | |
| Cataract, Congenital Zonular, with Sutural Opacities | |
| COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II | |
| Lissencephaly 3 | |
| Weyers acrofacial dysostosis | Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence. |
| HYPOTRICHOSIS 2 | |
| Endophthalmitis | A globe disease that is characterized by inflammation of the inside of the eye. |
| Arthrogryposis, Distal, Type 4 | |
| Cocaine-Related Disorders | |
| Otosclerosis 3 | |
| Peroxisome biogenesis disorders | |
| Severe combined immunodeficiency due to adenosine deaminase deficiency | Severe combined immunodeficiency (SCID; see this term) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections. |
| Mycoses | |
| Paraphilias | |
| Hereditary Motor And Sensory Neuropathy, Type IIC | |
| Sinoatrial Block | Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria. |
| Retinal Degeneration | |
| Myocarditis | An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle. |
| HID Syndrome | |
| Craniofacial deafness hand syndrome | |
| Hyperhidrosis | Abnormal excessive perspiration (sweating). |
| Atrial Fibrillation, Familial, 3 | |
| Melanoma, Experimental | |
| Hyperkinesis | Motor hyperactivity with excessive movement of muscles of the body as a whole. |
| AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 3 | |
| 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. |
| AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1 | |
| 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. |
| AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 4 | |
| Radiation induced meningioma | |
| Asthma, Nasal Polyps, And Aspirin Intolerance | |
| SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 1 | |
| Neoplasms, Germ Cell and Embryonal | |
| Huntington Disease-Like 3 | |
| SPATIAL VISUALIZATION, APTITUDE FOR | |
| Multiple Acyl Coenzyme A Dehydrogenase Deficiency | |
| Kidney Failure, Chronic | |
| Myeloproliferative Disorders | |
| Meckel syndrome type 3 | |
| Puberty, Precocious | |
| Meckel syndrome type 1 | |
| Pancreatitis, Chronic | |
| Facial Dermatoses | |
| Cerebral Palsy, Ataxic, Autosomal Recessive | |
| Lethal congenital contracture syndrome 1 | |
| Jervell-Lange Nielsen Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Deafness, Autosomal Dominant 49 | |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy | |
| Achondrogenesis type 1B | Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage. |
| Hereditary Motor And Sensory Neuropathy VI | |
| Disorders of Excessive Somnolence | |
| Refsum Disease | OMIM mapping confirmed by DO. [SN]. |
| Ileal Diseases | |
| Trichilemmal Cyst 1 | |
| 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. |
| Retinal Vein Occlusion | |
| Synpolydactyly 3 | |
| Schmid-Fraccaro syndrome | |
| Athabaskan brainstem dysgenesis | |
| Phyllodes Tumor of the Prostate | |
| Epilepsy, Female-Restricted, with Mental Retardation | |
| Cutis Gyrata Syndrome of Beare And Stevenson | |
| Aland Island Eye Disease | |
| Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 | |
| Epistaxis | Bleeding from the nose. |
| Chondrodysplasia Punctata, Rhizomelic | |
| Lujan Fryns syndrome | The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems. |
| Leukoencephalopathies | |
| Papilloma, Choroid Plexus | |
| Cone-Rod Dystrophy, X-Linked, 2 | |
| Cone-Rod Dystrophy, X-Linked, 3 | |
| Achromatopsia 2 | |
| Achromatopsia 3 | |
| Microcoria, congenital | |
| Anemia, Megaloblastic | |
| Lung Neoplasms | |
| Purine-Pyrimidine Metabolism, Inborn Errors | |
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 | |
| Hypersensitivity, Delayed | |
| Cortical Dysplasia-Focal Epilepsy Syndrome | |
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 | |
| Temporomandibular Joint Disorders | |
| Tinnitus | Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation. |
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 | |
| Purpura, Thrombocytopenic, Idiopathic | |
| DEAFNESS, AUTOSOMAL RECESSIVE 18A | |
| Pontocerebellar Hypoplasia Type 2C | NT MGI. |
| Pontocerebellar Hypoplasia Type 2B | NT MGI. |
| Bowen's Disease | |
| Hodgkin Disease | A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell. |
| Carcinoma, Non-Small-Cell Lung | |
| Azoospermia, Nonobstructive | |
| Ring dermoid of cornea | |
| Mental Retardation, X-Linked 81 | |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 | |
| Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 | |
| Wounds and Injuries | |
| Glaucoma 1, Open Angle, N | |
| Hereditary Angioedema Type III | |
| Aneurysm, intracranial berry, 2 | |
| Epidermolysis Bullosa Simplex With Pyloric Atresia | Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia. |
| Carney Complex Variant | |
| Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 | |
| Papillorenal syndrome | Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia. |
| Intestinal Obstruction | |
| Renal Insufficiency | |
| Vaginal Diseases | |
| Apraxia, oculomotor, Cogan type | |
| Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 | |
| 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. |
| Carcinoma, Ductal, Breast | |
| Cerebral Palsy, Spastic Quadriplegic, 2 | |
| Lymphatic Diseases | |
| Hyperlipoproteinemia Type III | |
| Drug-Induced Liver Injury | A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, and chemicals from the environment. |
| Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II | |
| Malabsorption Syndromes | |
| Anemia, Hemolytic, Congenital | |
| 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. |
| Fibroadenoma | A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast. |
| Barakat syndrome | |
| CATARACT 6, MULTIPLE TYPES | |
| Autoimmune Diseases of the Nervous System | |
| DEAFNESS, AUTOSOMAL RECESSIVE 74 | |
| Gastritis | A stomach disease that is an inflammation of the lining of the stomach. |
| Substance-Related Disorders | |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 | |
| Asthma, Aspirin-Induced | |
| Basal Ganglia Diseases | |
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 | |
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 | |
| Chlamydia Infections | |
| 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. |
| Schizophrenia and Disorders with Psychotic Features | |
| Intrahepatic cholangiocarcinoma | |
| Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration | |
| Saethre-Chotzen Syndrome with Eyelid Anomalies | |
| Plasminogen Activator Inhibitor-1 Deficiency | |
| Subarachnoid Hemorrhage | Hemorrhage occurring between the arachnoid mater and the pia mater. |
| Costeff optic atrophy syndrome | |
| Sleep Initiation and Maintenance Disorders | |
| Dermatitis, Atopic | |
| Death | A permanent cessation of all vital functions: the end of life; can be applied to a whole organism or to a part of an organism. |
| Pleural Effusion | The presence of an excessive amount of fluid in the pleural cavity. |
| Exocrine Pancreatic Insufficiency | |
| Niemann-Pick Disease, Type C | OMIM mapping confirmed by DO. [SN]. |
| Thyroid cancer, medullary | |
| Testicular Germ Cell Tumor 1 | |
| Episodic Muscle Weakness, X-Linked | |
| Multiple Endocrine Neoplasia | |
| Lameness, Animal | |
| Feminization | |
| Anemia, Sideroblastic | An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes). |
| Self Mutilation | |
| Aneurysm, Dissecting | |
| Hyperandrogenism | |
| ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1 | |
| Hidradenitis suppurativa, familial | |
| Charcot-Marie-Tooth Disease, Dominant Intermediate C | |
| Sertoli cell-only syndrome, Y-linked | |
| Pyruvate Dehydrogenase E2 Deficiency | Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood. |
| Inflammatory Bowel Disease 2 | |
| Leukemia, Monocytic, Acute | |
| Gastrointestinal Neoplasms | |
| Pain | An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS. |
| Phosphoglycerate Dehydrogenase Deficiency | A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis. |
| 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. |
| Vascular Calcification | Abnormal calcification of the vasculature. |
| Methylmalonic Aciduria and Homocystinuria, CblF Type | |
| Peripheral Nervous System Diseases | |
| Mental retardation, X-linked 14 | |
| Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency | An organic acidemia that involves an accumulation of methylmalonic acid in the blood. |
| Mediastinal Neoplasms | |
| Vitamin D Deficiency | |
| Bile acid synthesis defect, congenital, 2 | |
| 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related | |
| MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 3 |
