| 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 | |
| Testicular Diseases | |
| Paraquat lung | |
| Pulmonary Fibrosis | |
| Scaphocephaly, Maxillary Retrusion, And Mental Retardation | |
| Polydipsia | Excessive thirst manifested by excessive fluid intake. |
| Factor V Deficiency | OMIM mapping confirmed by DO. [SN]. |
| Bile acid synthesis defect, congenital, 4 | |
| Diabetes Mellitus, Transient Neonatal, 2 | |
| Bronchiolitis Obliterans | A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults. |
| Cataract and cardiomyopathy | |
| Pneumoconiosis | An interstitial lung disease that is caused by the inhalation of dust. |
| Pierson syndrome | |
| Pallister-Hall Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Epilepsy, Progressive Myoclonic, 1b | |
| Fetal Weight | |
| Somatosensory Disorders | |
| Polycythemia Vera | |
| Wolf-Hirschhorn Syndrome | OMIM mapping confirmed by DO. [LS]. |
| Dementia, familial Danish | |
| Fucosidosis | OMIM mapping confirmed by DO. [SN]. |
| Melkersson-Rosenthal Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Aortic Aneurysm | An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size. |
| Acrodermatitis | |
| Familial medullary thyroid carcinoma | OMIM mapping confirmed by DO. [SN]. |
| Alkaptonuria | An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct. |
| Arthritis, Juvenile | disease cluster belonging to disease group immune |
| Meningomyelocele | |
| Epilepsy, Rolandic | |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to | |
| Asperger Syndrome | An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development. |
| Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type | |
| Pyruvate Dehydrogenase Complex Deficiency Disease | A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex. |
| Bipolar Disorder | A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence.|A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence (MeSH). |
| Retinitis Pigmentosa 18 | |
| Hyperoxaluria | Increased excretion of oxalates in the urine. |
| 46,XX SEX REVERSAL 1 | |
| Ciliary Motility Disorders | |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 | |
| Spastic Paraplegia 39, Autosomal Recessive | |
| Deafness, Autosomal Recessive 30 | |
| ALCOHOL SENSITIVITY, ACUTE | |
| Cone Dystrophy 4 | |
| Bloom Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Psychophysiologic Disorders | |
| Ataxia with vitamin E deficiency | Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E. |
| LYMPHEDEMA, HEREDITARY, IC | |
| Laron syndrome type 2 | |
| Bronchiectasis | A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances. |
| Asthma | A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways.|Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory.|A form of bronchial disorder with three distinct components: airway hyper-responsiveness (RESPIRATORY HYPERSENSITIVITY), airway INFLAMMATION, and intermittent AIRWAY OBSTRUCTION. It is characterized by spasmodic contraction of airway smooth muscle, WHEEZING, and dyspnea (DYSPNEA, PAROXYSMAL).|A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, excercise, stress, reflux disease, medications, foods and emotional anxiety. |
| Aortic Valve Insufficiency | An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle. |
| Restless Legs Syndrome | A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them. |
| Mitral Valve Insufficiency | |
| Deglutition Disorders | |
| Alzheimer Disease 13 | |
| Pitt-Hopkins syndrome | Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing. |
| Sinusitis | A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip. |
| Mucopolysaccharidosis VII | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans. |
| Narcolepsy | A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work. |
| Interstitial Pneumonitis, Desquamative, Familial | |
| Nerve Degeneration | |
| Pancreatic beta cell agenesis with neonatal diabetes mellitus | |
| Liposarcoma, Myxoid | |
| Mastocytosis | OMIM mapping confirmed by DO. [LS]. |
| Corneal endothelial dystrophy type 2 | |
| EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE | |
| Liver Cirrhosis, Biliary | |
| Brain Damage, Chronic | |
| TRIGONOCEPHALY 1 | |
| MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7 | |
| Frontotemporal Dementia | A basal ganglia disease characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language. |
| Oligospermia | |
| Bile Acid Malabsorption, Primary | |
| Senior-Loken syndrome 4 | |
| Anemia, Sickle Cell | |
| Mental retardation-hypotonic facies syndrome, x-linked, 1 | |
| Night Blindness | |
| Disorders of Environmental Origin | |
| Aromatic amino acid decarboxylase deficiency | |
| Pena Shokeir syndrome, type 1 | |
| Cranial Nerve Diseases | |
| Holoprosencephaly | A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies. |
| Mycoplasma Infections | |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 | |
| Granuloma, Plasma Cell | |
| Alpha-B Crystallinopathy | |
| Wilms Tumor 4 | |
| METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT | |
| CONE-ROD DYSTROPHY 9 | |
| Hemophagocytic lymphohistiocytosis, familial, 4 | |
| Heterotaxy, Visceral, 3, Autosomal | |
| Atrichia with Papular Lesions | Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities. |
| Wilms Tumor 3 | |
| Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 | |
| CONE-ROD DYSTROPHY 2 | |
| Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant | |
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L | |
| Cayler cardiofacial syndrome | |
| Factor X Deficiency | |
| NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA | |
| Medullary Cystic Kidney Disease 2 | |
| No-Reflow Phenomenon | |
| FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 | |
| Dermatitis, Occupational | |
| Carcinoma, Squamous Cell | |
| Mental Retardation, X-Linked, Syndromic, Christianson Type | |
| Holocarboxylase Synthetase Deficiency | A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase. |
| Muscular Dystrophy, Congenital, 1B | |
| Respiratory Tract Diseases | |
| Hemangiosarcoma | A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma. |
| Thyroid Hormone Metabolism, Abnormal | |
| Spastic paraplegia 9, autosomal dominant | |
| Glioma | A cell type cancer that has_material_basis_in glial cells and is located_in brain or located_in spine. |
| Venous Thrombosis | Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow. |
| Myositis | An inflammatory process affecting the skeletal muscles. Causes include infections, injuries, and autoimmune disorders.|Inflammation of a muscle or muscle tissue. |
| Neuropathy, hereditary motor and sensory, Okinawa type | |
| Sinus Thrombosis, Intracranial | |
| Dupuytren Contracture | An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints. |
| Gastroesophageal Reflux | Retrograde flow of gastric juice (GASTRIC ACID) and/or duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the distal ESOPHAGUS, commonly due to incompetence of the LOWER ESOPHAGEAL SPHINCTER. |
| Alopecia | A hypotrichosis that is characterized by a loss of hair from the head or body. |
| Cachexia | Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease. |
| Proteinuria | |
| Insulin-Like Growth Factor I, Resistance To | |
| Hydrolethalus syndrome | An autosomal recessive disease characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation. |
| Thyroid Dyshormonogenesis 1 | |
| MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 | |
| Thyroid Dyshormonogenesis 4 | |
| Thyroid Dyshormonogenesis 5 | |
| Thyroid Dyshormonogenesis 6 | |
| Acute Kidney Injury | Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). |
| Cowden-Like Syndrome | |
| Glucose-Galactose Malabsorption | |
| Adrenal Cortex Diseases | |
| Unconsciousness | |
| Hoyeraal Hreidarsson syndrome | Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia. |
| Mitochondrial Myopathies | |
| SPONDYLOPERIPHERAL DYSPLASIA | |
| Hyperkalemia | An abnormally increased potassium concentration in the blood. |
| Exfoliation Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Rhabdomyosarcoma 1 | |
| N-acetyl glutamate synthetase deficiency | |
| Severe Acute Respiratory Syndrome | A coronavirus infectious disease and is_a respiratory system infectious disease that results_in infection located_in respiratory tract, has_agent SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.|Severe acute respiratory syndrome is a respiratory tract infection described as a severe respiratory illness that is transmitted especially by contact with infectious material (as respiratory droplets or body fluids), is caused by a single-stranded RNA virus of the genus Coronavirus (SARS-CoV), is characterized by fever, headache, body aches, a dry cough, and hypoxia and usually by pneumonia.|A respiratory system infectious disease and is_a coronavirus infectious disease that results_in infection located_in respiratory tract, has_agent SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.|A viral disorder characterized by high FEVER, dry COUGH, shortness of breath (DYSPNEA) or breathing difficulties, and atypical PNEUMONIA. A virus in the genus CORONAVIRUS is the suspected agent.|A respiratory system infectious disease that is a severe respiratory illness characterized by fever, headache, body aches, a dry cough, and hypoxia and pneumonia caused by a single-stranded RNA virus of the genus SARS coronavirus (SARS-CoV). |
| Intracranial Arteriovenous Malformations | |
| Pseudohyperkalemia, Familial, 2, due to Red Cell Leak | |
| Carpal Tunnel Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Delayed Emergence from Anesthesia | |
| Optic atrophy polyneuropathy deafness | |
| Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like | |
| Maturity-Onset Diabetes Of The Young, Type 9 | |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 | |
| Balkan Nephropathy | An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria. |
| Yellow Nail Syndrome | A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached. |
| Anxiety, Separation | |
| Mental Retardation, X-Linked 84 | |
| ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 | |
| Muscular Dystrophies | |
| Spastic Paraplegia, Optic Atrophy, and Neuropathy | |
| Leber Congenital Amaurosis 14 | |
| Lipoblastoma | |
| Granulomatosis with Polyangiitis | |
| Capgras Syndrome | A delusional disorder in which a person holds a delusion that a friend, spouse, parent, or other close family member has been replaced by an identical-looking impostor. |
| Kidney Cortex Necrosis | |
| Dimethylglycine Dehydrogenase Deficiency | Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. |
| Pituitary Hormone Deficiency, Combined, 1 | |
| Pituitary Hormone Deficiency, Combined, 2 | |
| Spermatocele | |
| Dysarthria | Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. |
| Mental retardation, X-linked, syndromic 5 | |
| Hyperprolinemia | An increased concentration of proline in the blood. |
| Noonan Syndrome 5 | |
| Noonan Syndrome 4 | |
| PEROXISOME BIOGENESIS DISORDER 2B | |
| Noonan Syndrome 6 | |
| Nephrotic Syndrome | Xref MGI. |
| Cirrhosis, Familial | |
| von Willebrand Disease, Type 3 | |
| LOEYS-DIETZ SYNDROME 2 | |
| Hennekam lymphangiectasia lymphedema syndrome | |
| Van der Woude syndrome | A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone. |
| Schwannomatosis | |
| Hemangioma, capillary infantile | |
| Amelogenesis Imperfecta, Type IB | |
| Demyelinating Diseases | |
| Wilms Tumor | |
| Absence of Tibia | Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula. |
| Spastic Paraplegia 37, Autosomal Dominant | |
| Trehalase Deficiency | |
| Intervertebral Disc Displacement | |
| Guanidinoacetate methyltransferase deficiency | |
| Netherton Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Crigler Najjar syndrome, type 2 | Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1 (see these terms). |
| Metaplasia | |
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q | |
| ADRENAL HYPOPLASIA, CONGENITAL | |
| Zygodactyly 1 | |
| Cardiomyopathy, Dilated, 2a | |
| Aminoacylase 1 deficiency | |
| CADASIL | |
| Familial encephalopathy with neuroserpin inclusion bodies | A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern. |
| Deafness, Autosomal Recessive 28 | |
| Antithrombin III Deficiency | An inherited blood coagulation disease characterized by the tendency to form clots in the veins. |
| Bartter Syndrome | Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. |
| Hypopigmentation | A reduction of skin color related to a decrease in melanin production and deposition. |
| Muscular Dystrophy, Limb-Girdle, Type 2L | |
| Arterial Occlusive Diseases | |
| Neoplasms, Hormone-Dependent | |
| Senior Loken Syndrome | An autosomal recessive genetic disease characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. |
| Erythema Nodosum | An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral. |
| Pierre Robin Syndrome | |
| Ventricular Outflow Obstruction | |
| Rhabdomyosarcoma, Alveolar | |
| RETINITIS PIGMENTOSA 50 | |
| ARTHROGRYPOSIS, DISTAL, TYPE 1A | |
| RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 | |
| Colonic Polyps | abnormal tissue masses that protrude into the lumen of the colon and are tethered to the wall of the colon |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 13 | |
| Marfan Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Speech Disorders | |
| Osteopetrosis autosomal dominant type 1 | |
| Adrenal Insufficiency | Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves. |
| Pendred syndrome | Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter. |
| Porencephaly | NT MGI. |
| Primary Ovarian Insufficiency, Fragile X-Associated | |
| Congenital disorder of glycosylation type 1H | |
| Doyne honeycomb retinal dystrophy | |
| Hereditary Autoinflammatory Diseases | |
| ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2 | |
| Anterior segment mesenchymal dysgenesis | |
| Spondyloepiphyseal Dysplasia, Kimberley Type | |
| Tetralogy of Fallot | OMIM mapping confirmed by DO. [LS]. |
| BRACHYDACTYLY-MENTAL RETARDATION SYNDROME | |
| Pregnancy Complications | |
| Asbestosis | A pneumoconiosis caused by inhalation and retention of asbestos fibers. |
| Stomatitis | |
| Carcinoma, Embryonal | |
| Hypokalemia | |
| Phosphoenolpyruvate carboxykinase deficiency | Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that manifests by hypoglycaemia, progressive neurological deterioration, severe liver failure, Fanconi syndrome and developmental delay. |
| Generalized Epilepsy and Paroxysmal Dyskinesia | |
| Meningitis, Aseptic | |
| Thyroid Carcinoma, Papillary, With Papillary Renal Neoplasia | |
| Sertoli Cell-Only Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Bietti Crystalline Dystrophy | |
| Cerebellar Diseases | |
| Vitreoretinochoroidopathy | |
| SYSTEMIC LUPUS ERYTHEMATOSUS WITH HEMOLYTIC ANEMIA, SUSCEPTIBILITY TO, 1 | |
| Prolactinoma | OMIM mapping confirmed by DO. [SN]. |
| Muscular Dystrophy, Facioscapulohumeral | |
| Deafness, Autosomal Recessive 59 | |
| Cardiomyopathy, Dilated, 1K | |
| Hereditary Breast and Ovarian Cancer Syndrome | |
| Osteoarthritis with Mild Chondrodysplasia | |
| Wittwer syndrome | |
| OCCULT MACULAR DYSTROPHY | A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings. |
| Ptosis, Hereditary Congenital 2 | |
| Onychomycosis | A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split. |
| Galactorrhea | Spontaneous flow of milk from the breast, unassociated with childbirth or nursing. |
| FANCONI ANEMIA, COMPLEMENTATION GROUP D2 | |
| Charcot-Marie-Tooth disease, Type 4C | Charcot-Marie-Tooth disease, type 4C (CMT4C) is a demyelinating CMT peripheral sensorimotor polyneuropathy with early-onset scoliosis or kyphoscoliosis. |
| Primrose syndrome | |
| Gastrointestinal Stromal Tumors | |
| Hepatoblastoma | |
| RETINITIS PIGMENTOSA 56 | |
| Charcot-Marie-Tooth disease, Type 4E | |
| Kartagener Syndrome | A primary ciliary dyskinesia that results from dysfunction of the cilia during embryologic development and is characterized by the triad of sinusitis, bronchiectasis and situs inversus with dextrocardia. |
| Blast Crisis | |
| Prostatic Intraepithelial Neoplasia | A neoplastic proliferation of the epithelial cells that line the acini and the ducts of the prostate gland. The neoplastic epithelial cells are confined within the acini and the ducts and they do not invade the surrounding prostatic stroma. Morphologically, it is classified as low or high grade.|noninvasive prostate duct lesions that affect smaller caliber ducts |
| Pentosuria | Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day. |
| Birk-Barel Mental Retardation Dysmorphism Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Hypertension, Essential | |
| Keratosis palmoplantaris with periodontopathia and onychogryposis | |
| Diffuse Cerebral Sclerosis of Schilder | |
| Craniometaphyseal Dysplasia, Autosomal Dominant | |
| Aortic Diseases | |
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 | |
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 | |
| Wolfram Syndrome | A genetic disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding wolframin (WFS1). |
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 | |
| Edema | An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. |
| Choroidal Dystrophy, Central Areolar 2 | |
| Nephritis, Interstitial | |
| Lipodystrophy, Familial Partial | |
| RETINITIS PIGMENTOSA 57 | |
| Retinitis Pigmentosa 9 | |
| Chorioretinal atrophy, progressive bifocal | |
| Melanoma astrocytoma syndrome | |
| Intraoperative Complications | |
| Angioedema | condition similar to urticarai but with swelling occuring in a lower layer of the dermis as well as in the subcutis |
| Cardiomyopathy, Familial Restrictive, 3 | |
| Keratosis palmoplantaris striata 1 | |
| Microphthalmia, Isolated, with Coloboma 5 | |
| Hypoparathyroidism | A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood. |
| Familial Mediterranean Fever, Autosomal Dominant | |
| Spastic Paraplegia-50, Autosomal Recessive | |
| Otosclerosis | Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs. |
| QT INTERVAL, VARIATION IN | |
| Trichuriasis | A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation. |
| Hemochromatosis | A metal metabolism disorder characterized by the accumulation of iron in various organs of the body. |
| Osteomalacia | A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone. |
| Spastic paraplegia 3, autosomal dominant | |
| Abducens Nerve Diseases | |
| Fuhrmann syndrome | |
| Intracranial Embolism and Thrombosis | |
| Leishmaniasis, Mucocutaneous | |
| Familial Hypophosphatemic Rickets | |
| Ventricular Remodeling | disease cluster belonging to disease group cardiovascular |
| Anophthalmia with pulmonary hypoplasia | |
| Athetosis | Athetosis (from the Greek word for 'changeable' or 'unfixed') refers to an inability to sustain the muscles of the fingers, toes, tongue, or any other group of muscles in a fixed position. Instead, posture is interrupted by slow, purposeless involuntary movements. |
| Vanishing White Matter Leukodystrophy with Ovarian Failure | |
| Neurofibromatoses | |
| Endometrial Neoplasms | |
| Xeroderma pigmentosum, variant type | |
| Xeroderma Pigmentosum, Complementation Group C | |
| Xeroderma Pigmentosum, Complementation Group B | Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers. |
| Xeroderma Pigmentosum, Complementation Group E | Xeroderma pigmentosum complementation group E (XPE) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers. |
| Xeroderma Pigmentosum, Complementation Group D | Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers. |
| Xeroderma Pigmentosum, Complementation Group G | Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers. |
| Xeroderma Pigmentosum, Complementation Group F | Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers. |
| RETINITIS PIGMENTOSA 55 | |
| Lynch Syndrome II | |
| Prostatic Diseases | |
| Schneckenbecken dysplasia | |
| Niemann-Pick Diseases | |
| Huntington Disease | A neurodegenerative disease and an autosomal dominant disease that is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities. |
| 17-Hydroxysteroid Dehydrogenase Deficiency | |
| PAGET DISEASE, JUVENILE | |
| Asphyxiating Thoracic Dystrophy 2 | |
| Deafness, X-Linked 1 | |
| Cardiomyopathy, Familial Hypertrophic, 3 | |
| Long QT syndrome type 3 | |
| Hypomagnesemia 2, renal | |
| PARKINSON DISEASE, LATE-ONSET | |
| Pycnodysostosis | An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges. |
| Atrial Septal Defect 4 | |
| Muscular Dystrophy, Oculopharyngeal | OMIM mapping confirmed by DO. [SN]. |
| Heparin Cofactor II Deficiency | |
| Cataract, Age-Related Cortical, 1 | |
| LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY | |
| Rapp-Hodgkin syndrome | An autosomal dominant disease characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate. |
| Hypertrophy | Hypertrophy is the increase in the volume of an organ or tissue due to the enlargement of its component cells. |
| Macrothrombocytopenia progressive deafness | |
| Tuberculosis, Bovine | |
| Hyperkeratosis lenticularis perstans | Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa. |
| Optic atrophy 6 | |
| Diabetes Mellitus, Insulin-Dependent, 6 | |
| Choreoathetosis/Spasticity, Episodic | |
| Major Affective Disorder 8 | |
| Diarrhea 4, Malabsorptive, Congenital | |
| Cataract | Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)|Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)|Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed) |
| Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities. |
| Dystonia 12 | Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress. |
| Mitochondrial neurogastrointestinal encephalopathy syndrome | |
| Major Affective Disorder 9 | |
| Glutaric aciduria 1 | |
| Cataract, Autosomal Dominant | |
| Migraine with Aura | A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon. |
| Ankylosis | Ankylosis is a arthropathy where there is a stiffness of a joint, the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself. |
| Myositis Ossificans | A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles. |
| Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | |
| Ceroid Lipofuscinosis, Neuronal, 10 | |
| Acheiropodia | OMIM mapping confirmed by DO. [SN]. |
| Wiskott-Aldrich Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Corneal Dystrophy, Fleck | |
| Keratoacanthoma familial | |
| Thiamine responsive megaloblastic anemia syndrome | Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness. |
| Laryngeal Adductor Paralysis | |
| Pain, Intractable | |
| MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome | |
| Congenital disorder of glycosylation type 1J | |
| Lymphoma, Non-Hodgkin | |
| Gastrointestinal Diseases | |
| Spinocerebellar Ataxia, X-Linked 5 | |
| Paresis | partial loss of power of voluntary movement in a muscle through injury or disease of it or its nerve supply |
| Intestinal Diseases | |
| Acquired angioedema | Acquired angioedema (AAE) is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency. |
| Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency | |
| Dermatitis | A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin. |
| CAPILLARY MALFORMATIONS, CONGENITAL | |
| Gray Platelet Syndrome | Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear. |
| SCAPULOPERONEAL MYOPATHY, MYH7-RELATED | |
| Growth Hormone-Secreting Pituitary Adenoma | OMIM mapping confirmed by DO. [SN]. |
| Rhabdomyosarcoma | |
| Hepatitis C, Chronic | |
| Nephrotic syndrome, idiopathic, steroid-resistant | |
| Long Qt Syndrome 5 | |
| Long Qt Syndrome 6 | |
| Immunoproliferative Disorders | |
| Spastic Paraplegia 38, Autosomal Dominant | |
| Long Qt Syndrome 2 | |
| Long Qt Syndrome 3 | |
| RETINITIS PIGMENTOSA 51 | |
| Deafness, Autosomal Dominant 48 | |
| Respiratory Distress Syndrome, Newborn | |
| Hepatic Adenomas, Familial | |
| SeSAME syndrome | |
| Atrial Standstill | Atrial stand still is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves. |
| Salivary Gland Adenoma, Pleomorphic | |
| Ige Responsiveness, Atopic | |
| Donohue Syndrome | OMIM mapping confirmed by DO. [SN]. |
| HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT | |
| Spinocerebellar ataxia 8 | |
| D-BIFUNCTIONAL PROTEIN DEFICIENCY | |
| Salmonella Infections, Animal | |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract | |
| Erythema | Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. |
| MENTAL RETARDATION, X-LINKED 21 | |
| Carcinoma, Pancreatic Ductal | |
| FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 | |
| Anterior polar cataract 2 | |
| Thromboangiitis Obliterans | OMIM mapping confirmed by DO. [LS]. |
| Mental Retardation, X-Linked, with Epilepsy | |
| MAMMARY-DIGITAL-NAIL SYNDROME | Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females. |
| Brain Ischemia | |
| Limb-girdle muscular dystrophy, type 1B | |
| Lymphedema, Hereditary, II | |
| Muscular Diseases | |
| Myeloproliferative Syndrome, Transient | |
| Nail-Patella Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy | |
| Lymphedema, Hereditary, IB | |
| Spastic ataxia Charlevoix-Saguenay type | |
| SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE | |
| Spinal Muscular Atrophies of Childhood | A spinal muscular atrophy that is associated with the survival of motor neuron protein. |
| Neutral Lipid Storage Disease with Myopathy | |
| Ophthalmoplegia | |
| Lead Poisoning, Nervous System | |
| Trimethylaminuria | Increased concentration of trimethylamine in the urine. |
| Superior Vena Cava Syndrome | |
| Neoplasms, Neuroepithelial | |
| Obsessive-Compulsive Disorder | An anxiety disorder characterized by recurrent, persistent obsessions or compulsions. Obsessions are the intrusive ideas, thoughts, or images that are experienced as senseless or repugnant. Compulsions are repetitive and seemingly purposeful behavior which the individual generally recognizes as senseless and from which the individual does not derive pleasure although it may provide a release from tension. |
| Osteomyelitis | A bone inflammation disease that results_from infection located_in bone and located_in bone marrow. |
| Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement | |
| Spinal Cord Injuries | disease cluster belonging to disease group neurological |
| MYELOID TUMOR SUPPRESSOR | |
| Glycogen Storage Disease Type III | |
| End Stage Liver Disease | |
| DEAFNESS, Y-LINKED 1 | |
| Lung Injury | |
| Body Weight Changes | disease cluster belonging to disease group metabolic |
| Epilepsy, Tonic-Clonic | |
| Bone Diseases, Endocrine | |
| Sarcopenia | |
| Glioblastoma | |
| Chondrosarcoma | A slowly growing malignant neoplasm derived from cartilage cells, occurring most frequently in pelvic bones or near the ends of long bones, in middle-aged and old people. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion or in patients with ENCHONDROMATOSIS. (Stedman, 25th ed)|A malignant mesenchymal tumor arising from cartilage-forming tissues involving the bones. It affects middle-aged to elderly adults, and the pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion. |
| Lissencephaly | A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation. |
| Glycogen Storage Disease Type II | A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome. |
| Exostoses, Multiple, Type III | |
| Nijmegen Breakage Syndrome-Like Disorder | |
| Epilepsies, Myoclonic | |
| Neural Tube Defects | any structural anomaly of or development of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord) |
| Cardiomyopathy, Familial Hypertrophic, 10 | |
| Cardiomyopathy, Familial Hypertrophic, 13 | |
| Anemia, Macrocytic | |
| Cardiomyopathy, Familial Hypertrophic, 15 | |
| Urticaria | Urticaria is a kind of skin rash notable for pale red, raised, itchy bumps that might also cause a burning or stinging sensation. It is often but not necessarily caused by an allergic reaction. |
| Histidinemia | A histidine metabolism disease that involves a deficiency of the enzyme histidase. |
| Antley-Bixler Syndrome Phenotype | |
| Psychoses, Substance-Induced | |
| Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma | |
| Erythrokeratodermia, Progressive Symmetric | |
| Carcinoma, Lewis Lung | |
| Orofacial Cleft 4 | |
| Atrioventricular Canal Defect | A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs. |
| DEAFNESS, AUTOSOMAL RECESSIVE 84A | |
| Epidermolysis Bullosa Pruriginosa | |
| Keratoderma, Palmoplantar, Epidermolytic | |
| Intracranial Aneurysm | |
| Delirium | |
| Choroidal Neovascularization | new, abnormal, vessel development of the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera |
| Calcinosis | A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue. |
| Alzheimer Disease 5 | |
| Mental Retardation, Autosomal Recessive 9 | |
| Spinal Cord Diseases | |
| PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL | |
| Retinoschisis | |
| Fibromatosis, Gingival, 2 | |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A | |
| Amyotrophic Lateral Sclerosis 10 | A type of ALS caused_by mutation located_in TARDBP gene located_in chromosome 1. |
| Thanatophoric Dysplasia | An osteochondrodysplasia that results_in short arms and legs with excess folds of skin. |
| Sarcosinemia | |
| Primary hyperoxaluria type 2 | Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis. |
| Familial Wilms tumor 2 | |
| Alcohol Withdrawal Seizures | |
| Mental Retardation, X-Linked 78 | |
| Ichthyosis Vulgaris | OMIM mapping confirmed by DO. [SN]. |
| Alzheimer Disease 6 | |
| Skin Fragility-Woolly Hair Syndrome | |
| Chronic Periodontitis | |
| Arginine:Glycine Amidinotransferase Deficiency | An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis. |
| 3-Methylglutaconic Aciduria, Type V | |
| Biotinidase Deficiency | A multiple carboxylase deficiency that involves a deficiency in biotinidase. |
| Bardet-Biedl Syndrome | An autosomal recessive disease that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. |
| Hemangioblastoma | |
| Hydatidiform Mole | OMIM mapping confirmed by DO. [SN]. |
| Prostatic Neoplasms | |
| Hypoglycemia | |
| Cholangitis | A bile duct disease that is an inflammation of the bile duct. |
| Nevi and Melanomas | disease cluster belonging to disease group cancer |
| Long Qt Syndrome 10 | |
| Long Qt Syndrome 11 | |
| Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness | |
| Hallucinations | Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space. |
| Hashimoto Disease | |
| Spastic paraplegia 23 | |
| Candidiasis, Familial, 1 | |
| Macular Degeneration, Age-Related, 4 | |
| Arrhythmias, Cardiac | |
| Frasier Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Retinitis Pigmentosa 34 | |
| MELAS Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Striatonigral degeneration infantile | |
| Nociceptive Pain | |
| Carney Complex | An autosomal dominant disease characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity. |
| Ectodermal dysplasia/ skin fragility syndrome | |
| Distal myopathy, Nonaka type | A myositis that is characterized by slowly progressive weakness and wasting of both distal and proximal muscles, most apparent in the muscles of the arms and legs that can occur in a sporadic or hereditary forms. |
| COMPLEMENT COMPONENT C1r/C1s DEFICIENCY | |
| Methionine Adenosyltransferase Deficiency | Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination. |
| Phosphoenolpyruvate carboxykinase 2 deficiency | Phosphoenolpyruvate carboxykinase 2 deficiency (PEPCK2) is an autosomal recessive subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the mitochondrial form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. The clinical manifestations of PEPCK2 include hypoglycaemia, lactic acidosis, failure to thrive, developmental delay, seizures, hypotonia hepatomegaly with liver dysfunction and Fanconi syndrome Additional features that may be observed include microcephaly, anorexia, drowsiness, spasticity, cardiomyopathy, mild icterus and peripheral oedema. |
| Peters anomaly | A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity. |
| Zimmerman Laband syndrome | |
| ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3 | |
| ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 | |
| GLAUCOMA 1, OPEN ANGLE, B | |
| Congenital disorder of glycosylation type 1B | |
| Canavan Disease | OMIM mapping confirmed by DO. [SN]. |
| CHARGE Syndrome | A syndrome that is acterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. |
| Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related | |
| Amaurosis congenita of Leber, type 5 | |
| Nephrosis, congenital | |
| Aniridia, type 2 | |
| Gastroparesis | |
| Pseudofolliculitis Barbae | |
| Amaurosis congenita of Leber, type 2 | |
| X-linked sideroblastic anemia | OMIM mapping confirmed by DO. [LS]. |
| Charcot-Marie-Tooth disease, Type 1F | |
| Glycine N-Methyltransferase Deficiency | |
| Carcinoma, Adenoid Cystic | |
| Urogenital Neoplasms | Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female. |
| Dry Eye Syndromes | disease cluster belonging to disease group unknown |
| Mental Retardation, X-Linked | |
| Ovarian Cysts | the appearance of fluid-filled sacs within the ovary |
| Dyschromatosis Universalis Hereditaria 1 | |
| Jackson-Weiss syndrome | |
| Rhizomelic chondrodysplasia punctata, type 1 | |
| Emanuel syndrome | Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting parebral fissures, deep set eyes, low hanging columnessa and long philtrum), congenital heart defects and kidney abnormalities. |
| Keutel syndrome | |
| Lesch-Nyhan Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Absent patella | Absence of the patella. |
| Osteochondroma | greater than the expected number of a benign cartilagenous neoplasm that consists of a pedicle of normal bone capped by a region of proliferating cartilage cells, occurring in a specific population in a given time period; osteochondroma is most often associated with one or more of the long bones |
| Bamforth syndrome | |
| Thyroid cancer, papillary | |
| Chondrodysplasia punctata 2, X-linked dominant | |
| Hypertension, Diastolic, Resistance to | |
| Auriculo-condylar syndrome | |
| Spastic paraplegia 14, autosomal recessive | |
| Paraganglioma | Xref MGI. |
| Craniosynostosis, Adelaide Type | |
| Hypouricemia, Renal, 2 | |
| REM Sleep Behavior Disorder | A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement. |
| Spastic paraplegia 29, autosomal dominant | |
| Staphylococcal Infections | |
| Saccharopinuria | |
| Charcot-Marie-Tooth disease, Type 2G | |
| Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia | |
| Auditory Perceptual Disorders | |
| Febrile Convulsions, Familial, 9 | |
| Goiter, Multinodular 3 | |
| Polyhydramnios | A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac. |
| Neutropenia, Severe Congenital, Autosomal Dominant 1 | |
| Hyperthyroidism | A thyroid gland disease that involves an over production of thyroid hormone. |
| Lymphatic Abnormalities | |
| Jaw Abnormalities | any structural anomaly of the bony framework of the mouth where the teeth are held |
| Hyperinsulinemic Hypoglycemia, Familial, 4 | |
| Hyperinsulinemic Hypoglycemia, Familial, 5 | |
| GLAUCOMA 3, PRIMARY CONGENITAL, C | |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked | |
| Mental Retardation, Autosomal Recessive 3 | |
| Stomatognathic Diseases | |
| Insulinoma | A benign tumor of the PANCREATIC BETA CELLS. Insulinoma secretes excess INSULIN resulting in HYPOGLYCEMIA.|A usually benign, well circumscribed neoplasm arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin. |
| Lipid Metabolism Disorders | |
| Krabbe Disease, Atypical, due to Saposin A Deficiency | |
| Intestinal Perforation | |
| Microphthalmia, syndromic 7 | |
| Presbycusis 2 | |
| Serotonin Syndrome | |
| Magnesium Deficiency | |
| BRACHYDACTYLY, TYPE E1 | |
| AMYOTROPHIC LATERAL SCLEROSIS 12 | A type of ALS caused_by mutation located_in OPTN gene located_in chromosome 10. |
| Leukocyte Disorders | |
| Maturity-Onset Diabetes of the Young, Type 3 | |
| Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | |
| Bronchial Diseases | |
| Brown-Vialetto-Van Laere syndrome | OMIM mapping confirmed by DO. [SN]. |
| Ghosal Hematodiaphyseal Dysplasia | |
| NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2 | |
| Mesangial sclerosis, diffuse | |
| Marles Greenberg Persaud syndrome | |
| Mental Retardation, X-Linked 1 | |
| Stargardt disease 1 | An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness. |
| Crisponi syndrome | An autosomal dominant disease characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body; caused_by mutations in the CRLF1 gene. |
| Congenital disorder of glycosylation type 2A | |
| ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED | |
| Melanoma | A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445)|A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain. |
| Congenital disorder of glycosylation type 2E | |
| CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B | |
| Glycogen Storage Disease XIII | |
| AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE | |
| Striatal Degeneration, Autosomal Dominant | |
| Noninsulin-dependent diabetes mellitus with deafness | |
| Pseudohypoparathyroidism Type 1B | Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. |
| Deafness, Autosomal Dominant 23 | |
| Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders | |
| Muscular Dystrophy, Congenital, Merosin-Positive | |
| Fanconi Anemia, Complementation Group I | |
| Chorea | A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next. |
| Bronchial Hyperreactivity | A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways.|Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory.|A form of bronchial disorder with three distinct components: airway hyper-responsiveness (RESPIRATORY HYPERSENSITIVITY), airway INFLAMMATION, and intermittent AIRWAY OBSTRUCTION. It is characterized by spasmodic contraction of airway smooth muscle, WHEEZING, and dyspnea (DYSPNEA, PAROXYSMAL).|A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, excercise, stress, reflux disease, medications, foods and emotional anxiety. |
| Meningitis, Meningococcal | |
| Endocrine-Cerebroosteodysplasia | |
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip | |
| Polyuria | An increased rate of urine production. |
| Chondrocalcinosis | An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint. |
| Peripheral Vascular Diseases | |
| Depressive Disorder, Major | |
| Thrombocythemia, Essential | |
| Achondroplasia | An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone. |
| FANCONI ANEMIA, COMPLEMENTATION GROUP O | |
| Small Cell Lung Carcinoma | An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. It is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1286-7)|A highly aggressive subtype of lung carcinoma characterized by the presence of malignant small cells and necrosis. Metastatic disease is usually present at the time of diagnosis.|A highly aggressive subtype of lung carcinoma characterized by the presence of malignant small cells and necrosis. Metastatic disease is usually present at the time of diagnosis. (NCI05) |
| Split-Hand/Foot Malformation 4 | |
| Xeroderma Pigmentosum | An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair. |
| BREAST CANCER, 11-22 TRANSLOCATION-ASSOCIATED | |
| Pupil Disorders | |
| Orofacial Cleft 2 | |
| Split-Hand/Foot Malformation 5 | |
| Gastroenteritis | A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. Chemicals and drugs also cause gastroenteritis. The symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen. |
| Deafness, Autosomal Dominant 28 | |
| HHH syndrome | An amino acid metabolic disorder that has_material_basis in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood. |
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 | |
| Rosacea | |
| Spondylocarpotarsal synostosis | Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism. |
| Hypolipoproteinemias | |
| Pseudoachondroplasia | An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism. |
| 2-Methylbutyryl-CoA Dehydrogenase Deficiency | |
| Short Stature, Idiopathic, Autosomal | |
| Anorexia Nervosa | An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image. |
| Ulnar-mammary syndrome | |
| Myopathies, Structural, Congenital | |
| Central Nervous System Diseases | |
| Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism | |
| Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive | |
| Mental Retardation, X-Linked 73 | |
| Death, Sudden, Cardiac | |
| Hereditary Myopathy with Early Respiratory Failure | |
| Hypomagnesemia 4, Renal | |
| Abidi X-linked mental retardation syndrome | |
| Panhypopituitarism X-linked | |
| Hypotrichosis simplex | Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies. |
| Li-Fraumeni Syndrome | An autosomal dominant disease characterized by increases risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata. |
| Lymphoproliferative Syndrome, X-Linked, 2 | |
| Weill-Marchesani-Like Syndrome | |
| Keloid | A tough heaped-up scar that rises quite abruptly above the rest of the skin. It is irregularly shaped and tends to enlarge progressively. Keloids arise when there is too much collagen formed in the dermis during the repair of connective tissue. |
| Glycosylphosphatidylinositol deficiency | |
| Perisylvian syndrome | |
| Hematoma, Subdural, Acute | |
| Smith-McCort Dysplasia | An osteochondrodysplasia characterized by short limbs and a short trunk with a barrel-shaped chest and caused_by homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q. |
| Methylmalonic aciduria cblB type | An organic acidemia that involves an accumulation of methylmalonic acid in the blood. |
| Shock, Septic | |
| Factor Xiii, A Subunit, Deficiency Of | |
| Spherocytosis, Type 5 | |
| Gout, HPRT-Related | |
| Antisocial Personality Disorder | A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood. |
| Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency | |
| Tukel syndrome | |
| Familial antiphospholipid syndrome | |
| Micrognathism | |
| Neuroectodermal Tumors, Primitive, Peripheral | |
| Salivary Gland Neoplasms | |
| MYOPATHY, SPHEROID BODY | |
| Alport syndrome, recessive type | |
| Hypoproteinemia | A decreased concentration of protein in the blood. |
| Cone-Rod Dystrophy 1 | |
| Retinitis Pigmentosa | A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss. |
| Lafora Disease | OMIM mapping confirmed by DO. [SN]. |
| Van Buchem disease type 2 | |
| Myeloproliferative Disorder, Chronic, with Eosinophilia | |
| Mastitis | |
| Amyloidosis, Familial | |
| Leukocyte adhesion deficiency type 1 | |
| Lithiasis | |
| Nervous System Diseases | |
| ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 | |
| Meckel Syndrome, Type 4 | |
| Silicosis | A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles. |
| Peutz-Jeghers Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Scoliosis | An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed) |
| NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 | |
| MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, X-LINKED | |
| Posterior Leukoencephalopathy Syndrome | |
| Acrofacial dysostosis, Nager type | |
| Mental Retardation, Autosomal Recessive 4 | |
| Pemphigoid, Benign Mucous Membrane | |
| Charcot-Marie-Tooth disease, X-linked recessive, 3 | |
| Alopecia universalis | |
| Mental Disorders Diagnosed in Childhood | |
| Dyggve-Melchior-Clausen syndrome | |
| Attention Deficit and Disruptive Behavior Disorders | |
| Oral Ulcer | A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers. |
| Mental Retardation, X-Linked 82 | |
| Disease Models, Animal | |
| Cardiomyopathy dilated with Woolly hair and keratoderma | |
| Multiple Sclerosis | A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring. |
| Sleep Bruxism | |
| Dermatopathia pigmentosa reticularis | |
| ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 4 | |
| Obstetric Labor, Premature | |
| Ceroid lipofuscinosis, neuronal 8 | |
| Myoclonic dystonia | Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks. |
| Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism | |
| Ceroid lipofuscinosis, neuronal 5 | |
| Eczema | A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin. |
| Drug Eruptions | |
| Usher syndrome, type 1E | |
| Spinal Cord Ischemia | |
| Citrullinemia | An urea cycle disorder that involves the accumulation of ammonia in the blood. |
| Minicore Myopathy with External Ophthalmoplegia | |
| Fabry Disease | OMIM mapping confirmed by DO. [SN]. |
| Hyaloideoretinal degeneration of Wagner | |
| Optic atrophy and cataract, autosomal dominant | |
| BLEEDING DISORDER, PLATELET-TYPE, 8 | |
| Autonomic Nervous System Diseases | |
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 | |
| Keratolytic winter erythema | |
| DEAFNESS, AUTOSOMAL RECESSIVE 25 | |
| Hawkinsinuria | |
| Anovulation | |
| Duane Retraction Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Respiratory System Abnormalities | |
| Fractures, Bone | Breaks in bones. |
| Phenylketonurias | |
| Thrombocytopenia 4 | |
| AUTISM, SUSCEPTIBILITY TO, X-LINKED 2 | |
| AUTISM, SUSCEPTIBILITY TO, X-LINKED 3 | |
| Isobutyryl-CoA dehydrogenase deficiency | |
| Dermatitis, Irritant | disease cluster belonging to disease group immune |
| Familial paroxysmal dystonia | |
| Dihydropyrimidine Dehydrogenase Deficiency | A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine. |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A | |
| Progressive hearing loss stapes fixation | |
| Pyloric Stenosis, Infantile Hypertrophic, 5 | |
| Lead Poisoning | |
| Chondrodysplasia, blomstrand type | Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality. |
| Meretoja syndrome | |
| Optic Nerve Diseases | |
| Substance Withdrawal Syndrome | A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions. |
| Joubert syndrome 4 | |
| Escherichia coli Infections | |
| Intestinal Polyposis | The presence of multiple polyps in the intestine. |
| Hematoma | |
| Spasms, Infantile | |
| Granuloma, Respiratory Tract | |
| Microphthalmia, Syndromic 5 | |
| Mental Retardation, Autosomal Recessive 11 | |
| Mental Retardation, Autosomal Recessive 10 | |
| Carbon Tetrachloride Poisoning | |
| Xerostomia | Dryness of the mouth due to salivary gland dysfunction. |
| Activated Protein C Resistance | Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay. |
| Motor Neuron Disease | A neurodegenerative disease that is located_in the motor neurones. |
| Atrial fibrillation, familial 1 | |
| Niemann-Pick Disease, Type A | OMIM mapping confirmed by DO. [SN]. |
| Kowarski syndrome | |
| Psoriasis | A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis. |
| Lymphatic Metastasis | |
| Diastrophic dysplasia | An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism. |
| WAGR Syndrome | A chromosomal disease that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes. |
| Breast Diseases | |
| Glycogen Storage Disease Type VII | OMIM mapping confirmed by DO. [SN]. |
| Gastritis, Atrophic | |
| Bile acid synthesis defect, congenital, 1 | |
| Inflammatory Bowel Disease 3 | |
| Meningitis, Bacterial | disease cluster belonging to disease group infection |
| MENTAL RETARDATION, X-LINKED 96 | |
| Hypertension, Pregnancy-Induced | |
| Coronary Stenosis | |
| Inflammatory Bowel Disease 5 | |
| COACH syndrome | Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF). |
| Inflammatory Bowel Disease 8 | |
| Congenital disorder of glycosylation type 1F | |
| TOBACCO ADDICTION, SUSCEPTIBILITY TO | |
| HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION | |
| Gyrate Atrophy | OMIM mapping by NeuroDevNet. [LS]. |
| Esophageal Neoplasms | |
| Multiple Chemical Sensitivity | A syndrome that is an adverse physical reaction to low levels of many common chemicals. |
| Hemoglobinuria, Paroxysmal | |
| Parathyroid Neoplasms | |
| Mental Retardation, Autosomal Recessive 8 | |
| Precursor Cell Lymphoblastic Leukemia-Lymphoma | disease cluster belonging to disease group cancer |
| Bone Diseases | |
| XFE Progeroid Syndrome | |
| Pancreatic cancer, adult | |
| Cadmium Poisoning | |
| Guillain-Barre Syndrome | An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system. |
| Brain Diseases | |
| Bone Resorption | The process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products. |
| ATR-X syndrome | |
| Camptodactyly 1 | |
| Obesity | An eating-related disorder in which excess body fat has accumulated to such an extent that health may be negatively affected. It is commonly defined as a body mass index (weight divided by height squared) of 30 kg/m2 or higher.|A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY). |
| WAARDENBURG SYNDROME, TYPE 4A | |
| dowling-degos disease | A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases. |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 | |
| Leukemia, Experimental | |
| Zlotogora-Ogur syndrome | Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability. |
| Mucopolysaccharidosis III | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain. |
| Hearing Loss, Conductive | An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. |
| Skeletal Defects, Genital Hypoplasia, And Mental Retardation | |
| Microphthalmia, Isolated 1 | |
| EPILEPSY, FAMILIAL TEMPORAL LOBE, 3 | |
| Thyroid cancer, follicular | |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 | |
| Hypersensitivity | An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods. |
| Peeling Skin Syndrome | NT MGI. |
| Liposarcoma | A malignant lipomatous neoplasm that arises in fat cells in deep soft tissue retroperitoneum.|A malignant tumor derived from primitive or embryonal lipoblastic cells. It may be composed of well-differentiated fat cells or may be dedifferentiated: myxoid (LIPOSARCOMA, MYXOID), round-celled, or pleomorphic, usually in association with a rich network of capillaries. Recurrences are common and dedifferentiated liposarcomas metastasize to the lungs or serosal surfaces. (From Dorland, 27th ed; Stedman, 25th ed)|A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Representative morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid/round cell liposarcoma. The metastatic potential is higher in less differentiated tumors. |
| Iron Overload | |
| Phobia, Specific | |
| Beta Thalassemia, Dominant Inclusion Body Type | |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 | |
| Mucositis | |
| Colorectal Cancer, Hereditary Nonpolyposis, Type 8 | |
| Myopia 5 | |
| Parkinson Disease 6, Autosomal Recessive Early-Onset | |
| Hypercholanemia, Familial | |
| Deafness, Autosomal Dominant 43 | |
| Leukemia, Myelomonocytic, Chronic | |
| Manganese Poisoning | |
| Cataract, Autosomal Recessive Congenital 3 | |
| Muscle Cramp | |
| Congenital myasthenic syndrome with episodic apnea | |
| Corticosteroid-Binding Globulin Deficiency | |
| Female Urogenital Diseases | |
| Microphthalmia, Isolated 3 | |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 | |
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj | Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia. |
| Microphthalmia, Isolated 4 | |
| Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency | |
| Buschke-Ollendorff syndrome | |
| Nonseminomatous germ cell tumor | |
| Amino Acid Metabolism, Inborn Errors | |
| Neural tube defect, folate-sensitive | |
| ACTH Deficiency, Isolated | |
| Adenocarcinoma of lung | |
| Bulimia | A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these). |
| Goldenhar Syndrome | A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch. |
| Factor XIII, B Subunit, Deficiency Of | |
| Cellulitis | |
| NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC | |
| Langer-Giedion Syndrome | An exostosis that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose. |
| Osteogenesis Imperfecta, Type IX | |
| Sunburn | An injury to the skin causing erythema, tenderness, and sometimes blistering and resulting from excessive exposure to the sun. The reaction is produced by the ultraviolet radiation in sunlight. |
| Dermatitis, Exfoliative | |
| Memory Disorders | |
| Varicose Veins | A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin. |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency | |
| Fibrous Dysplasia, Polyostotic | |
| Microphthalmia, Isolated 2 | |
| Darier Disease | |
| Bartter Syndrome, Type 4A | |
| GLUT1 DEFICIENCY SYNDROME 2 | |
| Hypoglycemia, leucine-induced | |
| Adrenoleukodystrophy | A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death. |
| Ichthyosis follicularis atrichia photophobia syndrome | |
| Iron-Refractory Iron Deficiency Anemia | IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment. |
| Microcephaly, Primary Autosomal Recessive, 5 | |
| Nystagmus, Pathologic | |
| Ventricular Dysfunction, Left | |
| Spastic paraplegia 6, autosomal dominant | |
| Spastic paraplegia 8, autosomal dominant | KIAA0196|This gene encodes a 134 kDa protein named strumpellin that is predicted to have multiple transmembrane domains and a spectrin-repeat-containing domain. This ubiquitously expressed gene has its highest expression in skeletal muscle. The protein is named for Strumpell disease; a form of hereditary spastic paraplegia (HSP). Spastic paraplegias are a diverse group of disorders in which the autosomal dominant forms are characterized by progressive, lower extremity spasticity caused by axonal degeneration in the terminal portions of the longest descending and ascending corticospinal tracts. More than 30 loci (SPG1-33) have been implicated in hereditary spastic paraplegia diseases. [provided by RefSeq, Aug 2009] |
| Tension-Type Headache | A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs. |
| Endometriosis | The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs. |
| Amaurosis hypertrichosis | |
| Tomaculous neuropathy | Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities. |
| Chromosome Breakage | A type of chromosomal aberration characterized by an increased susceptibility to chromosomal breakage induced by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents. |
| Alzheimer Disease | A dementia that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting in late middle age and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability.|A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.|A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)|A dementia which is an incurable disease of unknown cause, starting in late middle age or in old age, that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood, that leads in advanced cases to a profound decline in cognitive and physical functioning, and that is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. |
| Leishmaniasis, Cutaneous | |
| Ichthyosis, Lamellar | |
| Bartter Syndrome, Type 4b | |
| Neoplasms | |
| SPECIFIC LANGUAGE IMPAIRMENT 3 | |
| Jacobs syndrome | |
| Paget Disease Of Bone 4 | |
| Sagittal Sinus Thrombosis | |
| Mungan Syndrome | |
| Hyperbilirubinemia, Transient Familial Neonatal | |
| Listeriosis | A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth. |
| Epilepsies, Partial | |
| Malignant hyperthermia susceptibility type 4 | |
| Retinitis Pigmentosa 19 | |
| Histiocytoma, Angiomatoid Fibrous | |
| Tropical Calcific Pancreatitis | |
| Plagiocephaly, Nonsynostotic | |
| EPILEPSY, FAMILIAL TEMPORAL LOBE, 2 | |
| Rothmund-Thomson Syndrome | OMIM mapping confirmed by DO. [SN]. |
| HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 12 | |
| Preauricular Fistulae, Congenital | |
| Megalocytic interstitial nephritis | |
| Warburg Sjo Fledelius syndrome | An autosomal recessive disease characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism. |
| Kidney Neoplasms | Tumors or cancers of the KIDNEY. |
| Multiple synostoses syndrome 2 | |
| Blood Coagulation Disorders | |
| Gonadal Disorders | |
| Propping Zerres syndrome | |
| Leukemia, Megakaryoblastic, Acute | |
| Hoarseness | Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. |
| Fetal Death | |
| Enterovirus Infections | |
| Spinocerebellar ataxia, autosomal recessive 3 | |
| RETINAL DYSPLASIA, PRIMARY | |
| Mononeuropathies | |
| Ichthyosis hystrix, Curth Macklin type | Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term). |
| Sensorimotor neuropathy with ataxia, autosomal dominant | |
| Major Depressive Disorder 1 | |
| Major Depressive Disorder 2 | |
| Pfeiffer type acrocephalosyndactyly | |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 | |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 | |
| Urethral Stricture | |
| MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) | |
| SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE | Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis. |
| HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 14 | |
| Neoplasms, Bone Tissue | |
| TUMOR SUPPRESSOR GENE ON CHROMOSOME 11 | |
| Leber Congenital Amaurosis | A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. |
| Cystic Fibrosis | An autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs. |
| Hypoaldosteronism | Abnormally reduced levels of aldosterone. |
| Blindness | |
| Albinism deafness syndrome | |
| Rectal Neoplasms | |
| Poikiloderma of Kindler | Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB, see this term) and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes. |
| Dyskeratosis Congenita, Autosomal Dominant | |
| Hyperplasia | An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement.|An abnormal increase in the number of (otherwise normal) cells in an organ or a tissue with consequent enlargement. |
| Language Development Disorders | |
| Constriction, Pathologic | |
| Charcot-Marie-Tooth disease, Type 2D | |
| Charcot-Marie-Tooth disease, Type 2E | |
| Autoimmune Diseases | |
| Paralysis, Hyperkalemic Periodic | |
| Limb-girdle muscular dystrophy type 2H | |
| Charcot-Marie-Tooth disease, Type 2I | |
| Blood Platelet Disorders | |
| MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE | |
| Bohring syndrome | |
| Jeune syndrome | OMIM mapping confirmed by DO. [SN]. |
| Arachnodactyly | Abnormally long and slender fingers (spider fingers). |
| Meningioma, familial | |
| Precocious Puberty, Central | |
| Microcephaly, Primary Autosomal Recessive, 4 | |
| Leukemia, Lymphoid | |
| Microcephaly, Primary Autosomal Recessive, 6 | |
| Ectopia pupillae | A malposition of the pupil owing to a developmental defect of the iris. |
| Craniofacial Abnormalities | any structural anomaly of the face or head affecting appearance |
| Orofacial Cleft 5 | |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to | |
| Neutrophil Immunodeficiency Syndrome | Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas. |
| Yemenite deaf-blind hypopigmentation syndrome | |
| Mitochondrial Encephalomyopathies | |
| Stomatitis, Aphthous | |
| Hypermanganesemia with Dystonia Polycythemia and Cirrhosis | |
| Orofacial Cleft 3 | |
| Pseudolymphoma | |
| Disease Progression | |
| Orofacial Cleft 12 | |
| Hearing Loss, Sensorineural | |
| Orofacial Cleft 10 | |
| Acute Lung Injury | Acute lung injury (ALI) is a diffuse heterogeneous lung injury characterized by hypoxemia, non cardiogenic pulmonary edema, low lung compliance and widespread capillary leakage. ALI is caused by any stimulus of local or systemic inflammation, principally sepsis. |
| Urinary Tract Infections | |
| Specific Granule Deficiency | |
| Fibrous Dysplasia of Bone | An autosomal dominant disease that involves skin pigmentation, bone and hormonal problems along with premature puberty. It is caused by mutations in the GNAS1 gene. |
| Disease Susceptibility | |
| Thyroid Hormone Resistance Syndrome | OMIM mapping confirmed by DO. [LS]. |
| Genetic Diseases, X-Linked | |
| Sclerotylosis | |
| Charcot-Marie-Tooth disease, Type 2B | |
| Juvenile macular degeneration and hypotrichosis | |
| Multiple Sclerosis, Relapsing-Remitting | |
| Cushing's symphalangism | An autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness. |
| Lymphoma, T-Cell, Peripheral | |
| Lipidoses | |
| Dent Disease | A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene. |
| Insulin-Like Growth Factor I Deficiency | |
| Scurvy | OMIM mapping confirmed by DO. [SN]. |
| Lower Extremity Deformities, Congenital | |
| MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) | |
| Al Awadi syndrome | |
| Aortic Aneurysm, Familial Thoracic 6 | |
| Cardiomyopathies | A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).|A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. |
| Adenocarcinoma | A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures.|A malignant epithelial tumor with a glandular organization. |
| Cardiomyopathy, Dilated, 1AA | |
| Aortic Aneurysm, Familial Thoracic 2 | |
| COLORBLINDNESS, PARTIAL, PROTAN SERIES | A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green. |
| Charcot-Marie-Tooth disease, Type 2F | |
| Empty Sella Syndrome | |
| Colitis, Ulcerative | |
| Porokeratosis, Disseminated Superficial Actinic, 3 | |
| Arterial Tortuosity Syndrome | A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta. |
| Deafness, Autosomal Dominant 6 | |
| ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS | |
| Complement component 5 deficiency | OMIM mapping confirmed by DO. [SN]. |
| Deafness, Autosomal Dominant 5 | |
| Chromosome Disorders | |
| Deafness, Autosomal Dominant 1 | |
| Frontotemporal Dementia, Chromosome 3-Linked | |
| Confusion | Lack of clarity and coherence of thought, perception, understanding, or action. |
| Dysautonomia, Familial | |
| Candidiasis, Chronic Mucocutaneous | |
| Candidiasis | An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons. |
| NOVELTY SEEKING PERSONALITY TRAIT | |
| Deafness, Autosomal Dominant 9 | |
| Toenail Dystrophy, Isolated | |
| Charcot-Marie-Tooth disease, Type 2J | |
| Mullerian Aplasia and Hyperandrogenism | |
| Deafness, Autosomal Dominant 2B | |
| Hypertension, Malignant | |
| Meningoencephalitis | A central nervous system disease that involves encephalitis which occurs along with meningitis. |
| Charcot-Marie-Tooth disease, Type 2H | |
| Hip Fractures | Fractures of the FEMUR HEAD; the FEMUR NECK; (FEMORAL NECK FRACTURES); the trochanters; or the inter- or subtrochanteric region. Excludes fractures of the acetabulum and fractures of the femoral shaft below the subtrochanteric region (FEMORAL FRACTURES). |
| Lassa Fever | A viral infectious disease that results_in infection, has_material_basis_in Lassa virus, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding. |
| Polymicrogyria, Bilateral Occipital | |
| Glomerulonephritis | A nephritis that causes inflammation of the glomeruli located_in kidney. |
| Dyssomnias | |
| Iminoglycinuria | |
| Ceroid Lipofuscinosis, Neuronal, 2 | |
| Retinal cone dystrophy 2 | |
| Ceroid Lipofuscinosis, Neuronal, 1 | |
| Ceroid Lipofuscinosis, Neuronal, 6 | |
| Ceroid Lipofuscinosis, Neuronal, 7 | |
| Complement Component 7 Deficiency | NT MGI. |
| Nevo syndrome | |
| Lactate dehydrogenase deficiency type A | |
| DIABETES MELLITUS, INSULIN-DEPENDENT, X-LINKED, SUSCEPTIBILITY TO | |
| Hyperphosphatemia | |
| Nephritis | |
| Seckel syndrome 2 | |
| Amyloidosis | An acquired metabolic disease that involves abnormal deposited of amyloid proteins in organs and/or tissues. |
| Ehlers-Danlos syndrome, cardiac valvular form | |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency | Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction. |
| Deafness, autosomal dominant nonsyndromic sensorineural 17 | |
| Lewy Body Disease | A dementia and a synucleinopathy that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities. |
| Parkinson Disease 16 | |
| Thyroid Dyshormonogenesis 3 | |
| Glucose Metabolism Disorders | |
| Corneal Diseases | |
| Parkinson Disease 12 | |
| Ocular Motility Disorders | |
| Deafness, Autosomal Recessive 2 | |
| Mental Retardation, Autosomal Recessive 2 | |
| Cervical Intraepithelial Neoplasia | |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay | |
| Mental Retardation, Autosomal Recessive 7 | |
| Mental Retardation, Autosomal Recessive 6 | |
| Chromosome Aberrations | |
| Deafness, Autosomal Recessive 5 | |
| Epidermolysis Bullosa, Junctional, Non-Herlitz Type | |
| Cornea Plana 2 | |
| Cardiomyopathy, Familial Hypertrophic, 1 | |
| Stiff Skin Syndrome | |
| Pelger-Huet Anomaly | OMIM mapping confirmed by DO. [SN]. |
| Hyperlipoproteinemia Type II | |
| BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT | |
| Cataract, Autosomal Recessive, Early-Onset, Pulverulent | |
| SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE | |
| Hyperesthesia | |
| Pneumonia, Pneumococcal | |
| Hemophagocytic lymphohistiocytosis, familial, 3 | |
| Angiokeratoma | |
| Hemochromatosis, Type 2B | |
| Hemochromatosis, Type 2A | |
| Failure of Tooth Eruption, Primary | |
| Pituitary Neoplasms | |
| Brain Injuries | |
| Wolfram Syndrome 2 | |
| Osler-rendu-weber syndrome 2 | |
| Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations | |
| Diabetes Mellitus, Insulin-Dependent, 17 | |
| Hyper-IgM Immunodeficiency Syndrome, Type 1 | |
| Myopathy, X-Linked, with Excessive Autophagy | |
| Microcephaly, Primary Autosomal Recessive, 7 | |
| Death, Sudden | |
| Shock, Hemorrhagic | |
| Cardiovascular Diseases | |
| Noonan syndrome 3 | |
| Genomic Instability | abnormalities of DNA metabolism, DNA repair, cell-cycle governance, or control of apoptosis that increase the probability that whole chromosomes or pieces of chromosomes are gained or lost during cell division, resulting in an imbalance in the number of chromosomes per cell (aneuploidy) and an enhanced rate of loss of heterozygosity |
| Dystocia | slow or difficult delivery of offspring and/or placenta |
| Abortion, Threatened | |
| Deafness, Autosomal Recessive 21 | |
| Diabetes Mellitus, Noninsulin-Dependent, 3 | |
| Costello Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Diabetes Mellitus, Noninsulin-Dependent, 1 | |
| Prenatal Injuries | |
| Familial Cold Autoinflammatory Syndrome 2 | |
| Metaphyseal Dysplasia without Hypotrichosis | |
| Epilepsy, Familial Adult Myoclonic, 3 | |
| Delirium, Dementia, Amnestic, Cognitive Disorders | |
| Thrombophilia Due To Elevated Histidine-Rich Glycoprotein | |
| Testicular Germ Cell Tumor | |
| Primary lateral sclerosis juvenile | |
| McKusick Kaufman syndrome | |
| Carcinoma, Transitional Cell | |
| Liver Failure | |
| Walker-Warburg Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Diabetes Insipidus, Nephrogenic | |
| Malonic aciduria | |
| Bone Neoplasms | |
| Diabetes Mellitus, Noninsulin-Dependent, Type 4 | |
| Charcot-Marie-Tooth Disease, Axonal, Type 2n | |
| RENAL TUBULAR DYSGENESIS | A developmental defect characterized by absence or poor development of proximal renal tubules. |
| Pierre Robin syndrome with fetal chondrodysplasia | |
| Influenza in Birds | |
| Esophageal and Gastric Varices | |
| Rhizomelic chondrodysplasia punctata, type 2 | |
| Major Affective Disorder 4 | |
| Corneal Dystrophy, Posterior Polymorphous, 2 | |
| Friedreich Ataxia | Xref MGI. |
| Porokeratosis punctata palmaris et plantaris | |
| Limb-girdle muscular dystrophy, type 2E | |
| Impulse Control Disorders | |
| Arthritis, Rheumatoid | |
| Encephaloclastic Proliferative Vasculopathy | |
| NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC | |
| Spasm | |
| Corpus callosum agenesis neuronopathy | |
| Cardiomyopathy, Dilated, 1C | |
| Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked | |
| Senior-Loken Syndrome 6 | |
| NYSTAGMUS 5, CONGENITAL, X-LINKED | |
| Cardiomyopathy, Dilated, 1D | |
| Cardiomyopathy, Dilated, 1E | |
| Cardiomyopathy, Dilated, 1J | |
| Sarcoidosis, Early-Onset | |
| PARKINSON DISEASE 1, AUTOSOMAL DOMINANT | |
| Ehlers-Danlos syndrome, progeroid form | |
| Cardiomyopathy, Dilated, 1N | |
| Carcinoma in Situ | |
| Muscular Dystrophy, Limb-Girdle, Type 1C | |
| Cardiomyopathy, Dilated, 1M | |
| MENTAL RETARDATION, X-LINKED 49 | |
| Cardiomyopathy, Dilated, 1V | |
| Orofacial Cleft 11 | |
| Pituitary Diseases | |
| Gambling | An activity distinguished primarily by an element of risk in trying to obtain a desired goal, e.g., playing a game of chance for money. |
| Acromegaly | A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb. |
| Pregnancy, Ectopic | |
| Urinary Bladder Neoplasms | |
| Leukodystrophy, Metachromatic | |
| Kantaputra Gorlin syndrome | |
| Holoprosencephaly 9 | |
| Fractures, Closed | |
| Cortisone reductase deficiency | |
| Tachycardia, Sinus | |
| De Vivo disease | |
| Cardiomyopathy, Dilated, 1g | |
| Diabetes Mellitus, Insulin-Dependent, 21 | |
| Peroxisomal ACYL-COA oxidase deficiency | A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy. |
| Cavitary Optic Disc Anomalies | |
| Alzheimer disease type 4 | |
| Cardiomyopathy, Dilated, 1i | |
| Glaucoma, Primary Open Angle | disease cluster belonging to disease group vision |
| Cardiomyopathy, Dilated, 1o | |
| Hypertriglyceridemia | A condition of elevated levels of TRIGLYCERIDES in the blood. |
| Alzheimer disease type 2 | |
| Cardiomyopathy, Dilated, 1s | |
| Cardiomyopathy, Dilated, 1p | |
| Cardiomyopathy, Dilated, 1q | |
| Fundus Dystrophy, Pseudoinflammatory, Of Sorsby | |
| Cardiomyopathy, Dilated, 1w | |
| Tuberculosis | A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes. |
| Cardiomyopathy, Dilated, 1u | |
| Cardiomyopathy, Dilated, 1z | |
| Photoparoxysmal Response 3 | |
| Cardiomyopathy, Dilated, 1x | |
| Cardiomyopathy, Dilated, 1y | |
| Coumarin Resistance | |
| NADH cytochrome B5 reductase deficiency | |
| Tachycardia, Supraventricular | |
| Leigh Disease | A mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity. |
| Arthritis, Gouty | |
| Hypogonadism | A gonadal disease that is characterized by diminished functional activity of the gonads. |
| Holoprosencephaly 7 | |
| Typhoid Fever | A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia. |
| Mental Retardation, X-Linked, With Panhypopituitarism | |
| Turner Syndrome | No OMIM mapping, confirmed by DO. [LS]. |
| Rigid spine syndrome | Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency. |
| Paralysis | Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement. |
| Hand Dermatoses | |
| Retinal Telangiectasis | |
| 3b-Hydroxysteroid Dehydrogenase Deficiency | |
| Colorectal Adenomatous Polyposis, Autosomal Recessive | |
| Dengue | |
| Holoprosencephaly 2 | |
| Alternating hemiplegia of childhood | A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body. |
| Thiamine Deficiency | |
| Holoprosencephaly 3 | |
| Cerebellar Ataxia | A cerebellar disease characterized by ataxia originating in the cerebellum. |
| PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED | |
| Paroxysmal Nonkinesigenic Dyskinesia 2 | |
| Carcinoma, Endometrioid | |
| MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3 | |
| MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2 | |
| MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1 | |
| Alopecia, Androgenetic, 3 | |
| MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 | |
| MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6 | |
| MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5 | |
| MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 4 | |
| Gastrointestinal Hemorrhage | Hemorrhage affecting the gastrointestinal tract. |
| Strabismus | |
| Night blindness, congenital stationary | |
| Femur Head Necrosis | |
| Rett Syndrome | A pervasive developmental disease that is a neurological and developmental disorder that mostly occurs in females and is caused_by a mutation on the MECP2 gene on the X chromosome. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities. |
| Neurofibromatosis-Noonan syndrome | |
| Dehydration | |
| Carcinoma, Intraductal, Noninfiltrating | |
| Hyperhomocysteinemia | An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood. |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 | |
| Prostatic Hyperplasia | |
| Herpes Simplex | A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which are transmitted_by direct contact with an active lesion or body fluid of an infected person. |
| Morphine Dependence | An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance. |
| Fibrosis of Extraocular Muscles, Congenital, 3B | |
| Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related | |
| Migraine Disorders | |
| Prostate cancer, familial | A male reproductive organ cancer that is located_in the prostate. |
| Urinary Incontinence | Loss of the ability to control the urinary bladder leading to involuntary urination. |
| 46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy | |
| BESTROPHINOPATHY, AUTOSOMAL RECESSIVE | |
| Diabetes Mellitus, Permanent Neonatal | |
| Peroxisomal Disorders | |
| Generalized Epilepsy With Febrile Seizures Plus, Type 1 | |
| Overweight | |
| Generalized Epilepsy With Febrile Seizures Plus, Type 3 | |
| Carcinoma, squamous cell of head and neck | |
| Diarrhea | A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea. |
| Generalized Epilepsy With Febrile Seizures Plus, Type 4 | |
| Basal Laminar Drusen | OMIM mapping confirmed by DO. [SN]. |
| Mitochondrial Complex II Deficiency | |
| Sucrase-isomaltase deficiency, congenital | |
| Aortic Rupture | |
| Polymyositis | |
| Pigmentation Disorders | |
| Glomus vagale tumors | |
| Thyroiditis, Autoimmune | |
| Convulsions, Benign Familial Infantile, 4 | |
| Dyslexia | |
| Central Nervous System Neoplasms | |
| Glaucoma 1, Open Angle, I | |
| Congenital myasthenic syndrome ib | |
| Klippel-Feil Syndrome | A physical disorder that has_material_basis_in abnormal segmentation of the vertebra during fetal development which results_in fusion located_in cervical vertebra. |
| Megacolon | A colonic disease that is characterized by an abnormal dilation of the colon. |
| Cystinosis | |
| Deafness, Autosomal Dominant 21 | |
| Hyperparathyroidism | A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body. |
| Xanthomatosis, Cerebrotendinous | |
| Nephronophthisis 2 | |
| Prostatic Neoplasms, Castration-Resistant | |
| Hemihyperplasia, Isolated | |
| Systemic carnitine deficiency | |
| Retinitis Pigmentosa, Y-Linked | |
| Juvenile-onset dystonia | |
| Polycythemia, primary familial and congenital | |
| Nephronophthisis 4 | |
| OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA | An osteochondrodysplasia that results from mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss. |
| MUCOLIPIDOSIS III ALPHA/BETA | |
| Omodysplasia type 1 | |
| Hernia, Inguinal | |
| Nephronophthisis 7 | |
| Retroperitoneal liposarcoma | |
| Extravasation of Diagnostic and Therapeutic Materials | |
| Carcinoma, Renal Cell | |
| Hypovolemia | An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood. |
| Glaucoma | An ocular disease, occurring in many forms, having as its primary characteristics an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. The consequences of the increased pressure may be manifested in a variety of symptoms, depending upon type and severity, such as excavation of the optic disk, hardness of the eyeball, corneal anesthesia, reduced visual acuity, seeing of colored halos around lights, disturbed dark adaptation, visual field defects, and headaches. (Dictionary of Visual Science, 4th ed)|Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor. |
| Albinism ocular late onset sensorineural deafness | |
| Bundle-Branch Block | Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches. |
| Purpura | |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis | |
| Boomerang dysplasia | OMIM mapping confirmed by DO. [SN]. |
| Syndactyly Cenani Lenz type | |
| Alpha-Thalassemia Myelodysplasia Syndrome | |
| Opitz-Kaveggia syndrome | An X-linked disease characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern. |
| Pica | An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month. |
| Amelogenesis imperfecta pigmented hypomaturation type | |
| Glaucoma 1, Open Angle, K | |
| Coronary Vasospasm | |
| Lupus Erythematosus, Cutaneous | |
| Brugada Syndrome 5 | |
| Brugada Syndrome 4 | |
| Brugada Syndrome 3 | |
| Brugada Syndrome 2 | |
| Ovarian epithelial cancer | |
| Muscle Rigidity | Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. |
| Prostate Cancer, Hereditary, 5 | |
| Prostate Cancer, Hereditary, 4 | |
| Prostate Cancer, Hereditary, 7 | |
| Prostate Cancer, Hereditary, 6 | |
| Epilepsy, Temporal Lobe | |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 | |
| Prostate Cancer, Hereditary, 3 | |
| Cardiovascular Abnormalities | |
| PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA | |
| Cholelithiasis | Presence or formation of GALLSTONES in the BILIARY TRACT, usually in the gallbladder (CHOLECYSTOLITHIASIS) or the common bile duct (CHOLEDOCHOLITHIASIS). |
| Denys-Drash Syndrome | An autosomal dominant disease that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene). |
| Knuckle pads, leuconychia and sensorineural deafness | |
| Stevens-Johnson Syndrome | |
| Hypercapnia | Abnormally elevated blood carbon dioxide (CO2) level. |
| Pontocerebellar Hypoplasia Type 6 | NT MGI. |
| Aortic Aneurysm, Familial Thoracic 1 | |
| Abscess | |
| Erythrocytosis, Familial, 4 | |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation | |
| Hyperinsulinemic hypoglycemia, familial, 3 | |
| BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | |
| BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | |
| MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) | |
| Hyperinsulinemic hypoglycemia, familial, 7 | |
| Vascular Diseases | |
| Gamma-cystathionase deficiency | |
| Infertility, Male | |
| Urologic Diseases | |
| Body Weight | The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms. |
| Inflammatory Bowel Disease 28, Autosomal Recessive | |
| Pituitary Hormone Deficiency, Combined, 4 | |
| Coxsackievirus Infections | |
| Coproporphyria, Hereditary | |
| Stomach Neoplasms | |
| Chondrocalcinosis 1 | |
| Chondrocalcinosis 2 | |
| Bronchial Spasm | |
| Atrial Septal Defect 6 | |
| Connective Tissue Diseases | |
| Giant Axonal Neuropathy | |
| HYPERCHLORHIDROSIS, ISOLATED | |
| Bartter syndrome, antenatal , type 2 | |
| DEAFNESS, AUTOSOMAL DOMINANT 50 | |
| Mouth Abnormalities | any structural anomaly of the oral cavity |
| Genetic Diseases, Inborn | |
| Lung Diseases | |
| DEAFNESS, AUTOSOMAL RECESSIVE 45 | |
| Pregnancy Complications, Cardiovascular | |
| Liver Diseases | |
| Spherocytosis, Type 3 | |
| Joubert Syndrome 7 | |
| Pelviscapular dysplasia | |
| PONTOCEREBELLAR HYPOPLASIA, TYPE 4 | NT MGI. |
| Meckel Syndrome, Type 6 | |
| Meckel Syndrome, Type 5 | |
| Joubert Syndrome 9 | |
| Waardenburg Syndrome, Type 2D | |
| Combined Saposin Deficiency | |
| Viremia | An infection that has as part virus particles located in the blood. |
| FASTING INSULIN LEVEL QUANTITATIVE TRAIT LOCUS 1 | |
| Neuroectodermal Tumors | |
| Hecht syndrome | |
| Autoimmune polyendocrinopathy syndrome, type 1 | |
| Deafness, Autosomal Dominant 7 | |
| Episodic Ataxia, Type 3 | Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia (see this term) characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia. |
| PROSTATE CANCER, HEREDITARY, X-LINKED 1 | |
| Episodic Ataxia, Type 1 | Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia. |
| Episodic Ataxia, Type 7 | Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia (see this term) characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings. |
| Abetalipoproteinemia | A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_physical_basis_in an autosomal recessive disorder of lipid metabolism caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). |
| Episodic Ataxia, Type 5 | Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia (see this term) characterized by recurrent episodes of vertigo and ataxia lasting several hours. |
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 | |
| Mental Retardation, X-Linked 52 | |
| Lymphoma, Large B-Cell, Diffuse | |
| Hepatitis B | A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, transmitted_by blood transfusions, and transmitted_by fomites like needles or syringes. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. |
| Hepatitis C | A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 | |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 | |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 | |
| Inflammatory Breast Neoplasms | |
| Marie Unna congenital hypotrichosis | Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty. |
| Hyperthyroxinemia, Familial Dysalbuminemic | |
| Thrombophilia due to Activated Protein C Resistance | |
| Neuralgia, Postherpetic | |
| Auditory Neuropathy, Autosomal Dominant, 1 | |
| Respiratory Syncytial Virus Infections | |
| Radial Ray Deficiency, X-Linked | |
| Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive | |
| HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 1 | |
| Spherocytosis, Hereditary | |
| Mental Retardation, X-Linked 53 | |
| PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO | |
| Aortic aneurysm, familial thoracic 4 | |
| NYSTAGMUS 6, CONGENITAL, X-LINKED | |
| Sialorrhea | Habitual flow of saliva out of the mouth. |
| Spinocerebellar ataxia, autosomal recessive 4 | |
| Cystinuria | An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder. |
| Spinocerebellar ataxia, autosomal recessive 1 | |
| Multiple Endocrine Neoplasia Type 2b | An autosomal dominant disease characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities. |
| Pontocerebellar Hypoplasia Type 1 | Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death. |
| Trauma, Nervous System | |
| Agricultural Workers' Diseases | |
| Cardiomyopathy, Familial Restrictive, 2 | |
| Atrial Fibrillation, Familial, 5 | |
| Lysinuric Protein Intolerance | Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism. |
| Lymphoproliferative Disorders | |
| Tooth Agenesis, Selective, 5 | |
| Tooth Agenesis, Selective, 6 | |
| Tooth Agenesis, Selective, 3 | |
| Tooth Agenesis, Selective, 2 | |
| GELEOPHYSIC DYSPLASIA 1 | |
| Familial cylindromatosis | |
| PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL | |
| Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked | |
| Sjogren's Syndrome | A hypersensitivity reaction type II disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva. |
| Vasospasm, Intracranial | |
| Joint Diseases | |
| Neoplasm, Residual | |
| Neuroectodermal Tumors, Primitive | |
| Beta-Ureidopropionase Deficiency | Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal). |
| SPLIT-HAND/FOOT MALFORMATION 2 | |
| Myosclerosis, Autosomal Recessive | |
| Genital Diseases, Male | |
| Myotonic Dystrophy | |
| Ductus Arteriosus, Patent | |
| Neuropathy, Distal Hereditary Motor, Type VIIA | |
| Cerebral Palsy | A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance. |
| Familial benign hypercalcemia, type 3 | |
| Hypochondroplasia | An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism. |
| Torticollis keloids cryptorchidism renal dysplasia | |
| Apnea | Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. |
| Mydriasis | Abnormal dilatation of the iris. |
| Supranuclear Palsy, Progressive | |
| Combined Oxidative Phosphorylation Deficiency 1 | |
| Otosclerosis 8 | |
| Combined Oxidative Phosphorylation Deficiency 5 | |
| Combined Oxidative Phosphorylation Deficiency 4 | |
| Orofaciodigital Syndromes | |
| Otosclerosis 7 | |
| Age-Related Hearing Impairment 1 | |
| SECKEL SYNDROME 4 | |
| Potocki-Lupski syndrome | |
| Oncocytoma, renal | |
| Hyperekplexia and Epilepsy | |
| Facioscapulohumeral Muscular Dystrophy 1B | |
| Myocardial Infarction | Xref MGI. |
| Nervous System Malformations | |
| Organophosphate Poisoning | |
| Sleep Disorders, Circadian Rhythm | |
| Cardiomyopathy, Hypertrophic | |
| Progeria | OMIM mapping confirmed by DO. [SN]. |
| Otosclerosis 4 | |
| Cohen syndrome | Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity. |
| COCOON SYNDROME | |
| Vitamin D-Dependent Rickets, Type 2A | |
| Protein C Deficiency | |
| Dentinogenesis Imperfecta | OMIM mapping confirmed by DO. [SN]. |
| T cell immunodeficiency primary | |
| Muscular dystrophy, limb-girdle, type 1A | |
| Weight Loss | Reduction inexisting body weight. |
| Otosclerosis 2 | |
| FIBROMATOSIS, GINGIVAL, 1 | |
| Corneal Dystrophy, Fuchs Endothelial, 7 | |
| Pneumonia, Pneumocystis | |
| Vulvar Lichen Sclerosus | |
| Parastremmatic dwarfism | Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs. |
| MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 | |
| Microcephaly, Primary Autosomal Recessive, 3 | |
| Iridogoniodysgenesis, dominant type | |
| Cerebral Cavernous Malformations 2 | |
| Granulomatous Disease, Chronic | |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency | |
| Hepatitis, Alcoholic | |
| Dissociative Disorders | |
| Elliptocytosis 1 | |
| Craniosynostosis, Type 2 | |
| Hyperaldosteronism, Familial, Type II | |
| Endometrial Hyperplasia | overdevelopment or increased size, usually due an increased number of cells, of the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy |
| succinic semialdehyde dehydrogenase deficiency | A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid. |
| Porphyrias, Hepatic | |
| Gliosarcoma | |
| Puerperal Disorders | |
| Esophagitis, Peptic | |
| Nasopharyngeal carcinoma | A pharynx cancer that is located_in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract. |
| Optic Atrophy | Xref MGI. |
| Abortion, Habitual | |
| CK SYNDROME | |
| GLAUCOMA 1, PRIMARY OPEN ANGLE, C | |
| Toothache | |
| Carboxypeptidase N Deficiency | |
| Eating Disorders | |
| ZINC, ELEVATED PLASMA | |
| Deafness, autosomal recessive 51 | |
| Megaepiphyseal dwarfism | |
| Intellectual Disability | A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills. |
| Cryopyrin-Associated Periodic Syndromes | |
| ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS | |
| Microcephaly, Primary Autosomal Recessive, 1 | |
| Ataxia, Spastic, 1, Autosomal Dominant | |
| Gynecomastia | |
| Galactosemias | |
| Trichorhinophalangeal Syndrome, Type III | |
| BEAULIEU-BOYCOTT-INNES SYNDROME | |
| Carcinoma, Lobular | |
| SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 2 | |
| Epilepsy, Partial, with Variable Foci | |
| Atrial Flutter | A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit. |
| Brachydactyly with hypertension | |
| Townes-Brocks syndrome | An autosomal dominant disease that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. |
| Pyloric Stenosis, Infantile Hypertrophic 1 | |
| Appendicitis | A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever. |
| Cardiomyopathy, Familial Hypertrophic, 11 | |
| Thrombocytosis | A myeloma and blood platelet disease that is characterized by the presence of high platelet counts in the blood. |
| Fundus Albipunctatus | A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B | |
| Purine Nucleoside Phosphorylase Deficiency | A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder caused by a mutaion in the PNP gene and characterized mainly by decreased T-cell function. |
| Complement Component 4, Partial Deficiency Of | |
| Tick-Borne Diseases | |
| Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia | |
| Atrial myxoma, familial | |
| Syndactyly, type 3 | Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers. |
| Pontocerebellar Hypoplasia Type 3 | NT MGI. |
| Colonic Neoplasms | |
| Idiopathic basal ganglia calcification 1 | |
| Glycogen Storage Disease IXC | |
| Heterotaxy Syndrome | |
| Specific Language Impairment 4 | |
| Muscular Dystrophy, Limb-Girdle, Type 2G | |
| Carcinoma, Medullary | |
| MUCKLE-WELLS SYNDROME | |
| Microcephaly | OMIM mapping confirmed by DO. [SN]. |
| Teratogenesis | |
| Familial Glucocorticoid Deficiency 1 | |
| Attention Deficit Disorder with Hyperactivity | |
| Spinocerebellar ataxia, X-linked, 4 | |
| Cataract, Autosomal Dominant, Multiple Types 1 | |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive | |
| Primary ciliary dyskinesia, 4 | |
| Spinocerebellar ataxia, X-linked, 3 | |
| Spinocerebellar ataxia, X-linked, 2 | |
| Adenoma, Bile Duct | |
| Nystagmus 3, congenital, autosomal dominant | |
| Peritonitis | A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output. |
| Sexual Dysfunction, Physiological | |
| Urination Disorders | |
| Hypomyelination, Global Cerebral | |
| Pneumonia, Aspiration | |
| ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE | |
| EPILEPSY, HOT WATER, 1 | |
| Paraparesis | Weakness or partial paralysis in the lower limbs. |
| Desmoplastic Small Round Cell Tumor | Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases. |
| BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15 | |
| SPERMATOGENIC FAILURE 6 | |
| Endplate Acetylcholinesterase Deficiency | |
| Encephalitis, Herpes Simplex | |
| Neonatal Abstinence Syndrome | A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment. |
| Syndactyly, type v | |
| Neuritis | |
| Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails | |
| Invasive Pneumococcal Disease, Recurrent Isolated, 2 | |
| Heterotopia, Periventricular, associated with Chromosome 5p Anomalies | |
| Carcinoma, Hepatocellular | |
| Hypertension, Renal | |
| Tumoral Calcinosis, Normophosphatemic, Familial | |
| Adrenal Gland Diseases | |
| Spinocerebellar ataxia, autosomal recessive 6 | |
| Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia | |
| Personality Disorders | |
| SPECIFIC LANGUAGE IMPAIRMENT 1 | |
| Severe combined immunodeficiency with sensitivity to ionizing radiation | |
| MIGRAINE, FAMILIAL TYPICAL, SUSCEPTIBILITY TO, 2 | |
| Mental Retardation, X-Linked 58 | |
| Laterality Defects, Autosomal Dominant | |
| Factor XIII Deficiency | OMIM mapping confirmed by DO. [SN]. |
| Deafness, Autosomal Recessive 12 | |
| Iris hypoplasia and glaucoma | |
| Leber Congenital Amaurosis 12 | |
| Leber Congenital Amaurosis 13 | |
| Water Intoxication | |
| Epilepsy, Benign Neonatal | |
| Asthenozoospermia | loss or reduction of the mobility of the spermatozoa, frequently associated with infertility |
| Deafness, Autosomal Recessive 68 | |
| Hypocalciuric hypercalcemia, familial, type 1 | |
| Congenital atransferrinemia | Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated. |
| MYOTONIA CONGENITA, AUTOSOMAL DOMINANT | |
| Cardiac Arrhythmia, Ankyrin-B-Related | |
| Trichoepithelioma multiple familial | |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 | |
| Spinocerebellar ataxia, autosomal recessive 5 | |
| 22q11 Deletion Syndrome | A chromosomal disease that has_material_basis_in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features. |
| NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT | |
| Dystonia 3, Torsion, X-Linked | |
| Retinoblastoma | A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina. |
| THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE | |
| Aneurysm, Intracranial Berry, 10 | |
| AORTIC VALVE DISEASE 1 | |
| Kallmann Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Sotos Syndrome | An autosomal recessive disease that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life. |
| Venous Thromboembolism | Obstruction of a vein or VEINS (embolism) by a blood clot ( THROMBUS) in the blood stream. |
| Dystonia 6, torsion | |
| EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 | |
| Tuberous Sclerosis | OMIM mapping confirmed by DO. [LS]. |
| Sarcoma family syndrome of Li and Fraumeni | |
| Ichthyosis | An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. |
| Congenital disorder of glycosylation type II | A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain. |
| Urethritis | |
| Exudative Vitreoretinopathy 4 | |
| Exudative Vitreoretinopathy 5 | |
| Immunodeficiency due to Defect in CD3-Zeta | |
| Hypergammaglobulinemia | An increased level of gamma globulin (immunoglobulin) in the blood. |
| Erectile Dysfunction | |
| Coma | Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli. |
| Penile Diseases | |
| Cataract microcornea syndrome | |
| Colitis | Inflammation of the COLON section of the large intestine (INTESTINE, LARGE), usually with symptoms such as DIARRHEA (often with blood and mucus), ABDOMINAL PAIN, and FEVER. |
| Febrile Convulsions, Familial, 10 | |
| Glycogen Storage Disease Type VI | A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation. |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10 | |
| Colorectal Neoplasms | uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix. |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12 | |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14 | |
| Branchio-Oto-Renal Syndrome | OMIM mapping confirmed by DO. [SN]. |
| PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS | |
| Deafness, Autosomal Recessive 65 | |
| Shock | |
| Glycogen Storage Disease IB | |
| Cluster Headache | A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs. |
| Leri-Weil syndrome | |
| Microhydranencephaly | |
| Pneumonia | A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing. |
| TREACHER COLLINS SYNDROME 2 | |
| Deafness, Autosomal Recessive 9 | |
| Fructose-1,6-Diphosphatase Deficiency | A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis. |
| Dyskeratosis Congenita, Autosomal Recessive | |
| Uveal melanoma | A uveal cancer that has_material_basis_in uvea pigment cells. |
| Nephrosis | |
| Parkinson Disease 10 | |
| WARSAW BREAKAGE SYNDROME | |
| Hemangioendothelioma, Epithelioid | |
| Cataplexy | A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions. |
| Mineralocorticoid Excess Syndrome, Apparent | |
| Pachyonychia Congenita | OMIM mapping confirmed by DO. [SN]. |
| Fibrosis Of Extraocular Muscles, Congenital, 2 | |
| Multiple pterygium syndrome | |
| Pigmented Paravenous Chorioretinal Atrophy | Bilaterally symmetrical chorioretinal atrophy, with accumulation of bone corpuscle pigmentation along the retinal veins. |
| Macroglossia | Increased length and width of the tongue. |
| Deafness | A decreased magnitude of the sensory perception of sound. |
| MASP2 Deficiency | |
| Splenic Diseases | |
| Tetra-amelia autosomal recessive | |
| COXSACKIEVIRUS B3 SUSCEPTIBILITY | |
| MYH9-Related Disorders | |
| Nose Neoplasms | |
| MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) | |
| FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO | |
| Shprintzen Golberg craniosynostosis | |
| UV-SENSITIVE SYNDROME 1 | |
| Deafness, Autosomal Recessive 3 | |
| Hearing Loss, Bilateral | |
| Neutropenia, Severe Congenital, X-Linked | |
| Limb-girdle muscular dystrophy type 2A | |
| Mental Retardation, Autosomal Recessive 1 | |
| Respiratory Insufficiency | Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide. |
| Niemann-Pick Disease, Type B | OMIM mapping confirmed by DO. [SN]. |
| Raynaud Disease | OMIM mapping confirmed by DO. [SN]. |
| Arteriosclerosis | An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries. |
| Brachial Plexus Neuritis | |
| Oto-palato-digital syndrome, type 2 | Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival. |
| MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 2 | |
| NEPHRONOPHTHISIS 11 | |
| MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 1 | |
| Paramyotonia congenita of Von Eulenburg | |
| Ter Haar syndrome | |
| Recurrence | |
| ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR | |
| Psychomotor Disorders | |
| Episodic Ataxia, Type 6 | Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia (see this term) with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia. |
| Campomelic Dysplasia | An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur. |
| Carotid Artery Thrombosis | |
| Pneumonia, Viral | |
| EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 | |
| Hemolytic-Uremic Syndrome | Xref MGI. |
| Melanoma, Cutaneous Malignant | |
| Mental Retardation, X-Linked 63 | |
| Dwarfism | A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. |
| Premature Ovarian Failure 2b | |
| 46, XX Disorders of Sex Development | |
| Hearing Loss, Noise-Induced | |
| Oculoauricular Syndrome | |
| Atrioventricular Block | A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart. |
| 2,4-Dienoyl-CoA Reductase Deficiency | |
| Premature Ovarian Failure 2a | |
| Goiter | Enlargement of the THYROID GLAND that may increase from about 20 grams to hundreds of grams in human adults. Goiter is observed in individuals with normal thyroid function (euthyroidism), thyroid deficiency ( HYPOTHYROIDISM), or hormone overproduction ( HYPERTHYROIDISM). Goiter may be congenital or acquired, sporadic or endemic ( GOITER, ENDEMIC). |
| Premature Ovarian Failure 6 | |
| Alpha-ketoglutarate dehydrogenase deficiency | Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases. |
| Myelodysplastic-Myeloproliferative Diseases | |
| Complement Factor H Deficiency | |
| Myelitis | |
| Coloboma of optic nerve | OMIM mapping confirmed by DO. [SN]. |
| Moyamoya disease 1 | |
| Stocco dos Santos syndrome | |
| Amphetamine-Related Disorders | |
| Gram-Negative Bacterial Infections | |
| Alcoholic Intoxication | |
| Friedreich Ataxia 1 | Xref MGI. |
| Friedreich Ataxia 2 | |
| Anemia | A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin. |
| Nephropathy with Pretibial Epidermolysis Bullosa and Deafness | |
| Deafness, Autosomal Recessive 53 | |
| Sitosterolemia | |
| Hemangioma | A cell type benign neoplasm that has_physical_basis_in endothelial cells that line blood vessels and is characterised by increased number of normal or abnormal vessels filled with blood. |
| Leukemia, Lymphocytic, Chronic, B-Cell | |
| Andersen Syndrome | A long QY syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly. |
| RETT SYNDROME, CONGENITAL VARIANT | |
| Cataract, Cortical, Juvenile-Onset | |
| Epilepsy, Benign Neonatal, 3 | |
| Spinocerebellar Ataxia, Autosomal Recessive 2 | |
| Hyperkeratosis, Epidermolytic | |
| Cystinosis, ocular nonnephropathic | |
| Glycogen Storage Disease Type IIb | |
| Myasthenic syndrome, congenital, postsynaptic slow-channel | |
| Rhinitis, Allergic, Seasonal | |
| Alveolar capillary dysplasia | |
| Carcinoma, Large Cell | |
| Pneumococcal Infections | Infections with bacteria of the species STREPTOCOCCUS PNEUMONIAE. |
| Nephrolithiasis, X-Linked Recessive, with Renal Failure | |
| Enuresis, Nocturnal, 2 | |
| Corneal Dystrophy, Posterior Polymorphous, 1 | |
| Monilethrix | OMIM mapping confirmed by DO. [SN]. |
| Gout | Hereditary metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of uric acid calculi. |
| Williams-Beuren Region Duplication Syndrome | |
| Polymorphic catecholergic ventricular tachycardia | |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome | |
| Keratitis, hereditary | |
| Blastomycosis | A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening. |
| VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 | |
| Corneal Dystrophy, Posterior Polymorphous, 3 | |
| Moyamoya disease 3 | |
| Hypertelorism | Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). |
| Jensen syndrome | A syndrome that is characterized by sensorineural hearing loss with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia. |
| MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) | |
| Gastric Antral Vascular Ectasia | |
| Lipoid Proteinosis of Urbach and Wiethe | |
| Mucolipidosis III Gamma | |
| PREMATURE CHROMATID SEPARATION TRAIT | |
| Gait Disorders, Neurologic | |
| Niemann-Pick disease, type C2 | |
| Leigh syndrome , French Canadian type | Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development. |
| Keratoconus | A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape. |
| Adams Oliver syndrome | A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs. |
| COMPLEMENT COMPONENT 2 DEFICIENCY | NT MGI. |
| Neuroferritinopathy | Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits. |
| Epidermolysis Bullosa Simplex, Autosomal Recessive | |
| Cardiofaciocutaneous syndrome | A syndrome characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities; it is caused by mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes. |
| Reticular dysgenesis | A severe combined immunodeficiency that is the most severe form of SCID and is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions. |
| Acidosis | Abnormal acid accumulation or depletion of base. |
| EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2 | |
| Hyperostosis | A bone remodeling disease that results in an abnormal growth of located_in bone. |
| Cardiomyopathy, Dilated, 1CC | |
| NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR | Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays. |
| Strudwick syndrome | |
| Testicular Microlithiasis | The deposition of calcium phosphate microliths within the seminiferous tubules. |
| Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux | |
| THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1 | |
| TRANSCOBALAMIN II DEFICIENCY | A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII. |
| HIV Infections | |
| Osteosclerosis | A bone remodeling disease that results_in abnormal elevated bone density or mass. |
| Neutropenia, Nonimmune Chronic Idiopathic, Adult | |
| Rhizomelic chondrodysplasia punctata, type 3 | |
| Xerophthalmia | |
| Myopathy with Lactic Acidosis, Hereditary | |
| Hajdu-Cheney Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Hemophagocytic lymphohistiocytosis, familial, 2 | |
| Nystagmus, Congenital | |
| Arthropathy, progressive pseudorheumatoid, of childhood | |
| Glomerulonephritis, IGA | |
| Prolidase Deficiency | |
| Microphthalmia, Syndromic 4 | |
| Tumor Lysis Syndrome | |
| Heat Stress Disorders | |
| Papillomavirus Infections | |
| Schinzel-Giedion syndrome | Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphosis, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies. |
| Peanut Hypersensitivity | |
| WATSON SYNDROME | |
| Bowen-Conradi syndrome | OMIM mapping confirmed by DO. [SN]. |
| Motor Skills Disorders | |
| Acropectoral syndrome | |
| Rhabdoid Tumor Predisposition Syndrome 2 | |
| Abdominal Pain | An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. |
| Periodic fever, familial, autosomal dominant | |
| Hypertelorism with esophageal abnormality and hypospadias | |
| CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2 | |
| Ischiopatellar dysplasia | |
| VENTRICULAR TACHYCARDIA, FAMILIAL | |
| Arthrogryposis multiplex congenita, distal, X-linked | |
| Congenital disorder of glycosylation type 1K | |
| Hyperventilation | Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide. |
| Congenital disorder of glycosylation type 1L | |
| SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE | |
| Hyperuricemic Nephropathy, Familial Juvenile 2 | |
| Poisoning | |
| Congenital disorder of glycosylation type 1C | |
| Microphthalmia, Syndromic 6 | |
| Congenital disorder of glycosylation type 1E | |
| Congenital disorder of glycosylation type 1D | |
| Microphthalmia, Syndromic 3 | |
| Myasthenic Syndromes, Congenital | |
| Sensation Disorders | |
| Amyotrophic lateral sclerosis 1 | The most common type of familial ALS caused_by mutation located_in SOD1 gene located in chromosome 21. |
| Fanconi Syndrome | A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting. |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 | |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 | |
| Embolism | |
| MYOPATHY, CENTRONUCLEAR, X-LINKED | |
| Fanconi Anemia, Complementation Group D1 | |
| Coronary Vessel Anomalies | |
| Systemic Vasculitis | |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 | |
| Conjunctivitis | Conjunctivitis is a conjunctival disease described as a inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids, which is most commonly due to an allergic reaction or an infection (usually viral, but sometimes bacterial. Fungal infections are rare and occur mainly in people who use corticosteroid eye drops for a long time or have eye injuries involving vegetable matter. Newborns are particularly susceptible to eye infections, which they acquire from organisms in the mother's birth canal (neonatal conjunctivitis. |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 | |
| Ascites | Accumulation of serous fluid in the spaces between tissues and organs in the cavity of the abdomen. |
| Long Qt Syndrome 12 | |
| CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT | |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type II | Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease. |
| Ovarian Dysgenesis 2 | |
| AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE | |
| Hypobetalipoproteinemia, Familial, Apolipoprotein B | |
| Fumaric aciduria | Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment. |
| Otofaciocervical Syndrome | |
| Adenoma, Oxyphilic | |
| Hodgkin disease, X-linked pseudoautosomal | |
| Renal Insufficiency, Chronic | |
| Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis | |
| Protein-Losing Enteropathies | |
| Aicardi-Goutieres Syndrome 4 | |
| Abnormalities, Multiple | |
| Aicardi-Goutieres Syndrome 3 | |
| Penile Neoplasms | |
| Paresthesia | Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. |
| Bone Marrow failure syndromes | |
| ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE | |
| Brain Diseases, Metabolic | |
| Adult-onset citrullinemia type 2 | Citrullinemia type 2 is a severe subtype of citrin deficiency (see this term) characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma. |
| Chudley-Mccullough syndrome | |
| Osteoarthropathy, Primary Hypertrophic | |
| Distal Myopathies | |
| Pontocerebellar Hypoplasia Type 2A | NT MGI. |
| EPILEPSY, HOT WATER, 2 | |
| MUCOLIPIDOSIS II ALPHA/BETA | |
| Entamoebiasis | A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs. |
| Macrocephaly Autism Syndrome | |
| Hepatitis, Chronic | |
| Alkalosis | Depletion of acid or accumulation base in the body fluids. |
| HIV Seropositivity | |
| Leukemia, Myelomonocytic, Juvenile | |
| NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A | |
| Headache | Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. |
| Aortic Aneurysm, Familial Abdominal 3 | |
| Armfield X-Linked Mental Retardation Syndrome | |
| Leukocyte-Adhesion Deficiency Syndrome | |
| LONG QT SYNDROME 13 | |
| Hypertensive Nephropathy | |
| Dihydropyrimidinase Deficiency | Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity. |
| Eosinophilic Esophagitis | An esophagitis characterized by inflammation involving eosinophils located_in esophagus. |
| Dilatation, Pathologic | |
| Roberts Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Precursor B-Cell Lymphoblastic Leukemia-Lymphoma | |
| Vitelliform Macular Dystrophy | A macular degeneration that can cause progressive vision loss, it is characterized by the disruption of cells in a small area near the center of the retina, the macula. |
| DEAFNESS, NONSYNDROMIC, MODIFIER 1 | |
| Enuresis | Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible. |
| Mesomelia-synostoses syndrome | Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies. |
| Hypophosphatasia, Adult | |
| Epidermolysis bullosa simplex, Ogna type | Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by sometimes widespread, primarily acral blistering. |
| MODY, Type 6 | |
| Familial schizencephaly | |
| Hydronephrosis | |
| Holoprosencephaly 4 | |
| Holoprosencephaly 5 | |
| Holoprosencephaly 6 | |
| Kidney Diseases, Cystic | |
| Heart Septal Defects, Atrial | |
| Corneal Dystrophy, Congenital Stromal | |
| Retinitis Pigmentosa 12 | |
| SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1 | |
| Arts syndrome | An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene. |
| Retinitis Pigmentosa 13 | |
| Alopecia Areata | A hypersensitivity reaction type II disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots. |
| Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 | |
| Hyperthyroidism, Nonautoimmune | |
| Perceptual Disorders | |
| Urolithiasis | presence of calculi in any part of the urinary system |
| Bradycardia | A slower than normal heart rate (in adults, slower than 60 beats per minute). |
| Tyrosinemias | |
| Ventricular Dysfunction, Right | |
| Alzheimer Disease 8 | |
| Alzheimer Disease 9 | |
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 | |
| Bifid nose | Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip. |
| Legius syndrome | Legius syndrome, also known as NF1-like syndrome, is a rare, genetic, skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling. |
| Keratosis | |
| Alzheimer Disease 7 | |
| Retinitis Pigmentosa 17 | |
| Papilloma | A cell type benign neoplam that is composed_of epithelial tissue on papillae of vascularized connective tissue. |
| PARAGANGLIOMAS 4 | |
| Atrial Septal Defect 5 | |
| Cardiotoxicity | |
| Caliciviridae Infections | |
| Atrial Septal Defect 1 | |
| Deficiency Diseases | |
| Atrial Fibrillation, Familial, 2 | |
| Colorectal Neoplasms, Hereditary Nonpolyposis | |
| Eye Pain | |
| OPTIC ATROPHY 2 | |
| Bone Fragility with Contractures, Arterial Rupture, and Deafness | |
| Hyperoxia | elevated concentration of O2 in the blood, alveoli or other tissues resulting in the increased pressure of this component of body gases |
| Dandy-Walker Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Asphyxia | |
| DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT | |
| Otosclerosis 5 | |
| Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis | |
| Lens Diseases | |
| Dosage-sensitive sex reversal | |
| Three M Syndrome 2 | |
| Brugada Syndrome | A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. |
| Mental Retardation, X-Linked 42 | |
| Choroidal dystrophy central areolar | OMIM mapping confirmed by DO. [SN]. |
| Translocation, Genetic | |
| Leukokeratosis, Hereditary Mucosal | |
| BISPHOSPHOGLYCERATE MUTASE DEFICIENCY | |
| Cockayne Syndrome | An autosomal recessive disease that is caused by rare mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. |
| Optic Neuropathy, Ischemic | |
| Anencephaly | |
| Stickler syndrome, type 3 | |
| Aortic Stenosis, Supravalvular | |
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 | |
| Jervell And Lange-Nielsen Syndrome 2 | |
| VAN DER WOUDE SYNDROME 1, MODIFIER OF | |
| Myasthenia Gravis with Thymus Hyperplasia | |
| MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) | |
| Breast Neoplasms | |
| Sialic Acid Storage Disease | |
| HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1 | |
| Osteogenesis imperfecta, type 4 | Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term). |
| Cochlear Diseases | |
| Multiple Endocrine Neoplasia, Type IV | |
| Pseudomonas Infections | Infections with bacteria of the genus PSEUDOMONAS. |
| Vitamin E Deficiency | |
| Stickler syndrome, type 2 | |
| Diabetes Mellitus, Noninsulin-Dependent, 2 | |
| Hand Deformities, Congenital | |
| WILMS TUMOR 5 | |
| Neoplasms, Glandular and Epithelial | |
| PROTHROMBIN DEFICIENCY, CONGENITAL | |
| Hyperaldosteronism | An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands. |
| Epileptic Encephalopathy, Early Infantile, 3 | |
| Orofaciodigital syndrome type1 | Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females. |
| Myopathy, Myosin Storage | |
| Osteolysis | Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. |
| Bruton type agammaglobulinemia | A B cell deficiency that is caused by a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. |
| Cerebral Amyloid Angiopathy | An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia. |
| Unverricht-Lundborg Syndrome | OMIM mapping confirmed by DO. [LS]. |
| Carnitine Palmitoyltransferase II Deficiency, Infantile | |
| Scott Syndrome | Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity. |
| Fibromatosis, Aggressive | |
| Renal hepatic pancreatic dysplasia Dandy Walker cyst | |
| 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency | 3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae. |
| Dizziness | An abnormal sensation of spinning while the body is actually stationary. |
| Meacham Winn Culler syndrome | Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. |
| LEBER CONGENITAL AMAUROSIS 15 | |
| Mouth Neoplasms | |
| Rhabdoid Tumor Predisposition Syndrome 1 | |
| Capillary Leak Syndrome | |
| Hypocalcemia | An abnormally decreased calcium concentration in the blood. |
| Brachydactyly | A bone development disease characterized by short fingers and toes. |
| Compartment Syndromes | |
| Heartburn | |
| Cholangiocarcinoma | |
| RETINITIS PIGMENTOSA 54 | |
| Diarrhea 3, Secretory Sodium, Congenital | |
| Congenital disorder of glycosylation, type 2G | |
| Lynch syndrome I (site-specific colonic cancer) | |
| Neurofibromatosis, Familial Spinal | |
| Dystonia, Dopa-responsive | |
| Trigeminal Neuralgia | OMIM mapping confirmed by DO. [LS]. |
| Barth Syndrome | A lipid metabolism disorder that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin. |
| Periodontitis, Aggressive, 2 | |
| Alveolar Bone Loss | |
| Periodontitis | Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology) |
| Inflammatory Bowel Disease 24 | |
| Cecal Neoplasms | |
| Corneal Opacity | A reduction of corneal clarity. |
| Anorexia | A lack or loss of appetite for food (as a medical condition). |
| CD59 Deficiency | |
| Hepatorenal Syndrome | |
| Limb Deformities, Congenital | |
| Liver Neoplasms, Experimental | |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive | |
| Charcot-Marie-Tooth Disease | |
| Dystransthyretinemic Euthyroidal Hyperthyroxinemia | |
| Gallbladder Disease 4 | |
| SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 3 | |
| SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 2 | |
| Myeloperoxidase Deficiency | |
| Pulmonary Edema | |
| Radiculopathy | |
| Corneal dystrophy, Thiel-Behnke type | |
| Psychotic Disorders | |
| Heat Stroke | |
| Malformations of Cortical Development | |
| Alagille Syndrome | A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts. |
| Hand foot uterus syndrome | Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects. |
| Schizophrenia, Paranoid | |
| Ectodermal dysplasia, ectrodactyly, and macular dystrophy | |
| Leukoencephalopathy, Progressive Multifocal | |
| Thyrotoxicosis | A thyroid gland disease that is characterized by excess thyroid hormone. |
| Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type | |
| Haemophilus Infections | |
| Breast Neoplasms, Male | |
| HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1 | |
| Triglyceride storage disease with impaired long-chain fatty acid oxidation | |
| Porokeratosis, Disseminated Superficial Actinic, 4 | |
| Spina Bifida Cystica | |
| Inflammatory Bowel Disease 20 | |
| Iridogoniodysgenesis type1 | An autosomal dominant disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene. |
| Inflammatory Bowel Disease 22 | |
| Oligodendroglioma | A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO.)|A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2052; Adams et al., Principles of Neurology, 6th ed, p655)|A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO)|A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO.)|A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms (MeSH).|A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor of adults, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). It generally recurs locally, with median post-operative survival times ranging from 3 to 5 years for patients with all histological grades. (Adapted from WHO.) |
| SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 1 | |
| Inflammatory Bowel Disease 27 | |
| Myocardial Ischemia | 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. |
| Mental Retardation, X-Linked 93 | |
| Reticuloendotheliosis, familial, with eosinophilia | |
| Cholangitis, Sclerosing | |
| Heredodegenerative Disorders, Nervous System | |
| SEIZURES, BENIGN FAMILIAL NEONATAL, 1 | |
| Mental Retardation, X-Linked 94 | |
| Fetal Diseases | |
| VATER association | A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. |
| Propionic Acidemia | An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy. |
| Hyperglycerolemia | Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms)). |
| Cataract, zonular | |
| Benign essential blepharospasm | Benign essential blepharospasm (BEB) is a cerebral focal and functional dystonia characterized by involuntary excessive blinking that can lead, in severe cases, to functional blindness due to the impossibility of re-opening the eyes at will. |
| Acquired Immunodeficiency Syndrome | A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per µL of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS. |
| Carney-Stratakis Syndrome | |
| Pancreatic Agenesis, Congenital | |
| Charcot-Marie-Tooth Disease, Type 4H | Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy |
| Sarcoma, Synovial | |
| Neuroendocrine Tumors | |
| X-Linked Combined Immunodeficiency Diseases | |
| Oculocutaneous Albinism, Type IV | |
| Poikiloderma with Neutropenia | |
| Adenocarcinoma, Clear Cell | |
| Myopia | A refractive error in which rays of light entering the EYE parallel to the optic axis are brought to a focus in front of the RETINA when accommodation (ACCOMMODATION, OCULAR) is relaxed. This results from an overly curved CORNEA or from the eyeball being too long from front to back. It is also called nearsightedness. |
| SPONDYLOCOSTAL DYSOSTOSIS 5 | |
| Hypokalemic Periodic Paralysis, Type 2 | |
| Porphyrias | |
| Camurati-Engelmann Syndrome | |
| Methylmalonyl-CoA Epimerase Deficiency | |
| HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 | |
| Chromosomal Instability | abnormalities of DNA metabolism, DNA repair, cell-cycle governance, or control of apoptosis that increase the probability that whole chromosomes or pieces of chromosomes are gained or lost during cell division, resulting in an imbalance in the number of chromosomes per cell (aneuploidy) and an enhanced rate of loss of heterozygosity |
| Advanced Sleep-Phase Syndrome, Familial | |
| Crigler-Najjar Syndrome | A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT). |
| alpha-Mannosidosis | A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome. |
| Spinocerebellar ataxia 13 | |
| Homocystinuria | An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. |
| Epidermolysis bullosa dystrophica, Pasini type | |
| Aicardi-Goutieres syndrome 5 | |
| Constipation | |
| Deafness, Autosomal Dominant 59 | |
| Klippel Feil syndrome dominant type | |
| PULMONARY HYPERTENSION, CHRONIC THROMBOEMBOLIC, WITHOUT DEEP VEIN THROMBOSIS, SUSCEPTIBILITY TO | |
| Anisomastia | |
| Mevalonate Kinase Deficiency | OMIM mapping confirmed by DO. [SN]. |
| Lymphoma, Large-Cell, Anaplastic | |
| Inflammatory Bowel Disease 21 | |
| Cholecystitis | A cholangitis that is an inflammation of the gallbladder. |
| Hemolysis | |
| SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 5 | |
| Nephrogenic Fibrosing Dermopathy | Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease. |
| SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE | |
| Hypertrichosis congenital generalized X-linked | |
| Alopecia, Neurologic Defects, and Endocrinopathy Syndrome | |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness | |
| Protoporphyria, Erythropoietic | |
| Immune Complex Diseases | |
| Nemaline myopathy 3 | |
| Early-onset ataxia with oculomotor apraxia and hypoalbuminemia | |
| Gas Poisoning | |
| MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11 | |
| Deafness, Autosomal Recessive 47 | |
| Glomerulonephritis, Membranous | |
| Leiomyoma, Epithelioid | |
| Nemaline myopathy 4 | |
| Fragile X Tremor Ataxia Syndrome | |
| Deafness, Autosomal Recessive 49 | |
| Craniofacial Dysostosis | A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene. |
| Epilepsy, Complex Partial | |
| Cornea Plana 1 | |
| Complement Factor I Deficiency | OMIM mapping confirmed by DO. [SN]. |
| Alzheimer Disease 15 | |
| SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 2 | |
| Inflammatory Bowel Disease 23 | |
| SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | |
| Majeed syndrome | |
| Deafness, Autosomal Dominant 52 | |
| Pyogenic arthritis, pyoderma gangrenosum, and acne | |
| Spinocerebellar ataxia 20 | |
| O'Donnell Pappas syndrome | |
| Photophobia | Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. |
| Vaginal Neoplasms | |
| Double Outlet Right Ventricle | OMIM mapping confirmed by DO. [SN]. |
| Lymphoma, T-Cell | |
| Beta-Hydroxyisobutyryl CoA Deacylase Deficiency | |
| Penile Induration | |
| Asthenia | |
| Primary hyperoxaluria type 1 | Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement. |
| Orthostatic Intolerance | |
| Cone-Rod Dystrophy 12 | |
| Shock, Cardiogenic | |
| Hyperammonemia | An increased concentration of ammonia in the blood. |
| Cerebral Cavernous Malformations 3 | |
| Mucopolysaccharidosis VI | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase. |
| Cone-Rod Dystrophy 11 | |
| Depressive Disorder | A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure. |
| Nail dysplasia, isolated congenital | |
| Leukodystrophy, Hypomyelinating, 2 | |
| Leukemia, Myelogenous, Chronic, BCR-ABL Positive | |
| Cone-Rod Dystrophy 10 | |
| Leukemic Infiltration | |
| Loeys-Dietz Syndrome | |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 7 | |
| Foot Deformities, Congenital | |
| Craniocerebral Trauma | |
| Spastic Paraplegia, Hereditary | |
| Ciliary Dyskinesia, Primary, 12 | |
| Hallermann's Syndrome | A syndrome that affects growth, cranial development, hair growth and dental development. |
| Dyskeratosis Congenita | A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer. |
| Wallerian Degeneration | |
| DIAMOND-BLACKFAN ANEMIA 6 | |
| Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia | |
| Metachondromatosis | Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions. |
| Retinitis | |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 | |
| Johanson Blizzard syndrome | An autosomal recessive disease that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner. |
| Charcot-Marie-Tooth disease, X-linked recessive, 2 | |
| Diabetes Mellitus | A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.|A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE. |
| Purpura, Schoenlein-Henoch | |
| AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE | |
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 | |
| Brain Abscess | A collection of pus, immune cells, and other material in the brain. |
| Ageusia | |
| Cytochrome-c Oxidase Deficiency | |
| Neurogenic Inflammation | |
| Cardiac Output, High | |
| Syndactyly, Type IV | |
| Anemia, Diamond-Blackfan, 3 | |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 | |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 | |
| Epidermolysa bullosa simplex and limb girdle muscular dystrophy | |
| Surfactant Metabolism Dysfunction, Pulmonary, 4 | |
| CYSTIC FIBROSIS, MODIFIER OF, 1 | |
| Dysostoses | |
| Intracranial Thrombosis | |
| Nevus, Epidermal | |
| Stuve-Wiedemann syndrome | |
| Dental Caries | Localized destruction of the tooth surface initiated by decalcification of the enamel followed by enzymatic lysis of organic structures and leading to cavity formation. If left unchecked, the cavity may penetrate the enamel and dentin and reach the pulp. The three most prominent theories used to explain the etiology of the disease are that acids produced by bacteria lead to decalcification; that micro-organisms destroy the enamel protein; or that keratolytic micro-organisms produce chelates that lead to decalcification. |
| Polydactyly, Postaxial, Type A2 | |
| Polydactyly, Postaxial, Type A4 | |
| ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 | |
| Benign Paroxysmal Positional Vertigo | |
| Arthrogryposis | Persistent flexure or contracture of a joint. (Dorland, 27th ed) |
| Fibromatosis, Abdominal | |
| Uterine Cervical Neoplasms | |
| Hypoalphalipoproteinemias | |
| Choroideremia | OMIM mapping confirmed by DO. [SN]. |
| Polyendocrinopathies, Autoimmune | |
| HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2 | |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome | |
| Spastic Paraplegia 27, Autosomal Recessive | |
| Myopia 13 | |
| Osteoglophonic dwarfism | |
| Macrophage Activation Syndrome | |
| Myopia 12 | |
| Xanthomatosis | A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts. |
| Retrognathia | An abnormality in which the mandible is mislocalised posteriorly. |
| Neutropenia | |
| Lethal Congenital Contractural Syndrome 3 | |
| VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6 | |
| Freeman-Sheldon syndrome | A muscle tissue disease characterized by congenital joint contractures of hand and feet. |
| Cleft Palate, Isolated, And Mental Retardation | |
| Microscopic Polyangiitis | Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs. |
| Cardiomyopathy, Dilated, 1l | |
| Pericardial Effusion | A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity. |
| DENTIN DYSPLASIA, TYPE II | Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD, see this term) characterized by normal tooth roots but abnormal primary dentition. |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related | |
| Thymic epithelial tumor | Thymic epithelial neoplasms (TEN) are rare malignancies arising from the epithelium of the thymic gland. They comprise three sub-types: thymoma, thymic carcinoma, and thymic neuroendocrine carcinoma (see these terms). |
| Anuria | |
| Mesothelioma | A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos.|A tumor derived from mesothelial tissue (peritoneum, pleura, pericardium). It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. (Dorland, 27th ed) |
| MIGRAINE, FAMILIAL HEMIPLEGIC, 2 | |
| MIGRAINE, FAMILIAL HEMIPLEGIC, 1 | |
| Erythrokeratodermia Variabilis | OMIM mapping confirmed by DO. [SN]. |
| Uterine Neoplasms | |
| Massive Hepatic Necrosis | |
| Cataract, Congenital Nuclear, Autosomal Recessive 1 | |
| Hyaluronidase Deficiency | |
| MITRAL VALVE PROLAPSE, FAMILIAL | |
| Syndactyly, Type I | |
| CATARACT 3, MULTIPLE TYPES | |
| Erythrocyte Lactate Transporter Defect | |
| Hyperpigmentation | excess of pigment in any or all tissues or a part of a tissue |
| Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant | |
| Nemaline Myopathy 2 | |
| Progressive Familial Heart Block, Type Ib | |
| Hypopituitarism | Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FOLLICLE STIMULATING HORMONE; SOMATOTROPIN; and CORTICOTROPIN). This may result from surgical or radiation ablation, non-secretory PITUITARY NEOPLASMS, metastatic tumors, infarction, PITUITARY APOPLEXY, infiltrative or granulomatous processes, and other conditions.|A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions. |
| EPSTEIN-BARR VIRUS INSERTION SITE 1;EBVS1 EPSTEIN-BARR VIRUS INTEGRATION SITE | |
| Cardiomyopathy, Dilated, 1BB | |
| SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE | |
| Mycobacterium Infections, Nontuberculous | |
| Lipomatosis | |
| Cerebral Palsy, Spastic Quadriplegic, 1 | |
| Heart Defects, Congenital | |
| Polycystic Kidney Diseases | |
| Glaucoma 3, Primary Congenital, D | |
| Glomerulonephritis, Membranoproliferative | |
| Worth syndrome | A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate. |
| Glaucoma 3, Primary Congenital, A | |
| Jaundice, Chronic Idiopathic | |
| Adjustment Disorders | |
| Epidermolysis bullosa simplex with mottled pigmentation | Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation. |
| GRAVES DISEASE, SUSCEPTIBILITY TO, X-LINKED 1 | |
| Hydrolethalus Syndrome 1 | |
| Epidermolysis bullosa, lethal acantholytic | |
| Dwarfism, Pituitary | |
| Short Stature, Idiopathic, X-Linked | |
| Absent radii and thrombocytopenia | |
| Adrenal hyperplasia, congenital, type 5 | |
| Hypercalciuria, Absorptive, 1 | |
| Spinal Muscular Atrophy, Distal, Congenital Nonprogressive | |
| CUTIS LAXA, AUTOSOMAL DOMINANT 1 | |
| CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA | |
| Peripheral Arterial Occlusive Disease 1 | |
| Leukemia-Lymphoma, Adult T-Cell | |
| Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa | |
| Leiomyosarcoma | A sarcoma containing large spindle cells of smooth muscle. Although it rarely occurs in soft tissue, it is common in the viscera. It is the most common soft tissue sarcoma of the gastrointestinal tract and uterus. The median age of patients is 60 years. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1865)|A malignant smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis.|An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas. |
| Aggressive Periodontitis | A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium. |
| Familial dilated cardiomyopathy | |
| Neuronopathy, Distal Hereditary Motor, Type Viib | |
| Cataract, congenital, with microcornea or slight microphthalmia | |
| Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency | Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females. |
| Maple Syrup Urine Disease | An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures. |
| Tic Disorders | |
| Malignant hyperthermia susceptibility type 5 | |
| Cataract, Pulverulent, Juvenile-Onset | |
| Epidermolysis bullosa, pretibial | |
| Buruli Ulcer | |
| Diabetes Mellitus, Insulin-Dependent, 10 | |
| GLYCOGEN STORAGE DISEASE XV | |
| Musculoskeletal Abnormalities | |
| Ceroid lipofuscinosis, neuronal 9 | |
| Microphthalmia, Isolated, with Cataract 2 | |
| Microphthalmia, Isolated, with Cataract 1 | |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant | |
| Mental Retardation, X-Linked, Syndromic, Turner Type | |
| Flushing | |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 | |
| Frontotemporal Lobar Degeneration | A basal ganglia disease characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language. |
| Agammaglobulinemia, X-linked, type 2 | |
| Fibrosis | |
| THROMBOCYTHEMIA, X-LINKED | |
| Cardiovirus Infections | |
| Myostatin-related muscle hypertrophy | |
| Lymphoblastic Leukemia, Acute, with Lymphomatous Features | |
| HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS | |
| Primary Lateral Sclerosis, Adult, 1 | |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type | |
| Myotonia | An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. |
| Microcephaly with Mental Retardation and Digital Anomalies | |
| Coffin-Lowry Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Tooth Injuries | |
| Opsoclonus-Myoclonus Syndrome | Opsoclonus myoclonus syndrome (OMS) is a rare pediatric brain inflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia and behavioural and sleep disorders. |
| Spinocerebellar Ataxia 29 | |
| Melanosis | |
| Gaucher Disease, Type Iiic | |
| Primary ciliary dyskinesia, 3 | |
| Charcot-Marie-Tooth disease, Type 2B1 | Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy. |
| Cardiac Tamponade | A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch. |
| Charcot-Marie-Tooth disease, Type 2B2 | |
| Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies | |
| EXOSTOSES, MULTIPLE, TYPE I | |
| Osteoporosis-pseudoglioma syndrome | |
| Lipoid congenital adrenal hyperplasia | |
| Deafness, Autosomal Dominant 16 | |
| Spastic paraplegia 13, autosomal dominant | |
| Leukemia, Promyelocytic, Acute | |
| Deafness, Autosomal Dominant 11 | |
| Deafness, Autosomal Dominant 12 | |
| Deafness, Autosomal Dominant 13 | |
| Leukemia, Myeloid | |
| Irritable Bowel Syndrome | A disorder with chronic or recurrent colonic symptoms without a clearcut etiology. This condition is characterized by chronic or recurrent ABDOMINAL PAIN, bloating, MUCUS in FECES, and an erratic disturbance of DEFECATION.|A syndrome that is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause. |
| Cholestasis, progressive familial intrahepatic 3 | |
| Deafness, Autosomal Dominant 18 | |
| Thymoma, Familial | |
| 3-methylcrotonyl CoA carboxylase 1 deficiency | |
| Micronuclei, Chromosome-Defective | |
| Neuronal Ceroid-Lipofuscinoses | |
| Fasciculation | Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units. |
| ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT | |
| Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative | |
| Pancreatitis | Inflammation of the pancreas.|INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis. |
| Vohwinkel syndrome | |
| Adenomatous Polyposis Coli | |
| Glucagonoma | Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET; see this term) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms. |
| Critical Illness | |
| Atypical Mycobacteriosis, Familial, X-Linked 1 | |
| Scleroderma, Diffuse | |
| Hypercholesterolemia | An increased concentration of cholesterol in the blood. |
| Mandibuloacral dysplasia with type A lipodystrophy | |
| Desmosterolosis | Desmosterolosis is a very rare sterol biosynthesis disorder (see this term) characterized by multiple congenital anomalies, failure to thrive and intellectual disability, with elevated levels of desmosterol. |
| Bare lymphocyte syndrome 2 | |
| 5-HYDROXYTRYPTAMINE OXYGENASE REGULATOR | |
| CATARACT 4, MULTIPLE TYPES | |
| Pseudopseudohypoparathyroidism | OMIM mapping confirmed by DO. [SN]. |
| von Hippel-Lindau Disease | OMIM mapping confirmed by DO. [LS]. |
| Plasma Cell Granuloma, Pulmonary | |
| 3-Methylglutaconic Aciduria, Type I | |
| Hereditary pancreatitis | |
| Diamond-Blackfan Anemia 9 | |
| Diamond-Blackfan Anemia 8 | |
| Inclusion Body Myopathy 3, Autosomal Dominant | |
| Diamond-Blackfan Anemia 5 | |
| Transposition of the Great Arteries, Dextro-Looped 1 | |
| Oculodentodigital Dysplasia, Autosomal Recessive | |
| Neoplasms, Mesothelial | |
| Diamond-Blackfan Anemia 7 | |
| Spondyloepimetaphyseal Dysplasia, Missouri Type | A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities. |
| Dystonic Disorders | |
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | |
| 5q- syndrome | |
| THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA | |
| Waardenburg syndrome type 2B | |
| Waardenburg syndrome type 2A | |
| Asthma, Exercise-Induced | |
| Blood Coagulation Disorders, Inherited | |
| Plaque, Amyloid | |
| Multiple Sulfatase Deficiency Disease | OMIM mapping confirmed by DO. [SN]. |
| Hamartoma | A disordered proliferation of mature tissues that is native to the site of origin - eg, exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes - eg, neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma. |
| Glaucoma, Open-Angle | |
| Follicular Cyst | |
| Anemia, Refractory | |
| LEOPARD syndrome, 2 | |
| Sudden Infant Death with Dysgenesis of the Testes Syndrome | |
| MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) | |
| STAPES ANKYLOSIS WITH BROAD THUMB AND TOES | |
| AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 2 | |
| Romano-Ward 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). |
| Teratoma | A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers. |
| Malnutrition | |
| Borjeson-Forssman-Lehmann syndrome | An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene. |
| Hematemesis | The vomiting of blood. |
| Perry Syndrome | Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression. |
| Status Asthmaticus | An asthma that is a life threatening condition with progressive respiratory failure, which does not respond to standard treatment. |
| Myasthenic Syndrome, Congenital, Fast-Channel | |
| Lymphoma, Mantle-Cell | |
| Bulbar Palsy, Progressive | |
| Hermansky Pudlak syndrome 2 | |
| HYPEROXALURIA, PRIMARY, TYPE III | |
| Waardenburg syndrome type 2 | Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum |
| HYPERALPHALIPOPROTEINEMIA 1 | |
| Brachydactyly type C | |
| NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B | |
| Androgen-Insensitivity Syndrome | A testicular disease and hermaphroditism that is characterized by the partial or complete inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup. |
| Retinitis Pigmentosa 2 | |
| Retinitis Pigmentosa 3 | |
| Retinitis Pigmentosa 4 | |
| Retinitis Pigmentosa 6 | |
| Respiratory Paralysis | Inability to move the muscles of respiration. |
| Parietal Foramina | NT MGI. |
| MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE | |
| Congenital Disorder Of Glycosylation, Type IIH | |
| Glycogen Storage Disease | A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. |
| Urinary Bladder Diseases | |
| Mental Retardation, X-Linked 72 | |
| Dysgnathia complex | |
| Nevus | |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type | |
| Laurin-Sandrow syndrome | |
| Albright's hereditary osteodystrophy | An osteochondrodysplasia that has_material_basis_in lack of responsiveness to parathyroid hormone which results_in shortening and widening of long bones of the located_in hand or located_in foot along with short stature, obesity, and rounded face. |
| Breast Cancer 3 | |
| Familial Testotoxicosis | |
| Graft Occlusion, Vascular | |
| Lethargy | A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating. |
| Temple-Baraitser Syndrome | |
| Epilepsy, Myoclonic, Benign Adult Familial, Type 1 | |
| POROKERATOSIS 6, DISSEMINATED SUPERFICIAL ACTINIC TYPE | |
| Lysosomal beta-mannosidase deficiency | A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism. |
| Retinitis pigmentosa 1 | A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss. |
| Short Rib-Polydactyly Syndrome | |
| Glaucoma 1, Open Angle, H | |
| Azoospermia | A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen. |
| Acidosis, Respiratory | |
| Urinary Bladder Neck Obstruction | |
| Glaucoma 1, Open Angle, M | |
| Medium chain acyl CoA dehydrogenase deficiency | Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention. |
| Glaucoma 1, Open Angle, O | |
| Dysuria | Painful or difficult urination. |
| Glaucoma 1, Open Angle, A | |
| NEPHROTIC SYNDROME, TYPE 3 | |
| Contracture | A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. |
| Glaucoma 1, Open Angle, D | |
| NEPHROTIC SYNDROME, TYPE 4 | |
| Glaucoma 1, Open Angle, G | |
| Hemiplegic migraine, familial type 2 | |
| Hemophilia A | |
| Hemophilia B | An inherited blood coagulation disease that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait. |
| Hemiplegic migraine, familial type 1 | |
| Arsenic Poisoning | |
| Uveomeningoencephalitic Syndrome | A hypersensitivity reaction type II disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis. |
| Deafness, Autosomal Recessive 42 | |
| Graft vs Host Disease | |
| Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities | |
| Autoimmune Lymphoproliferative Syndrome, Type IIA | |
| Rapadilino syndrome | |
| Anonychia congenita | OMIM mapping confirmed by DO. [SN]. |
| Knobloch syndrome | |
| Invasive Pneumococcal Disease, Recurrent Isolated, 1 | |
| Vocal Cord Paralysis | A loss of the ability to move the vocal folds. |
| Spinocerebellar ataxia 23 | |
| Spinal Muscular Atrophy, Distal, X-Linked 3 | |
| Spinocerebellar ataxia 21 | |
| COUSIN SYNDROME | |
| Spinocerebellar ataxia 27 | |
| Acne Vulgaris | A chronic disorder of the pilosebaceous apparatus associated with an increase in sebum secretion. It is characterized by open comedones (blackheads), closed comedones (whiteheads), and pustular nodules. The cause is unknown, but heredity and age are predisposing factors. |
| Spinocerebellar ataxia 25 | |
| Aging, Premature | |
| DEAFNESS, AUTOSOMAL DOMINANT 22;DFNA22 DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, | |
| Epidermolysis Bullosa Dystrophica | |
| Fibrosarcoma | |
| Mental Retardation, X-Linked 45 | |
| Anemia, Hypochromic Microcytic, With Iron Overload | |
| Mental Retardation, X-Linked 46 | |
| THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN | |
| Nasal Polyps | Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis. |
| Cervical Dystonia, Primary | |
| Amyotrophic Lateral Sclerosis | A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts (MeSH).|An autosomal dominant inherited form of amyloidosis.|A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94) |
| Sweat Gland Neoplasms | |
| Charcot-Marie-Tooth disease, Type 4B1 | Charcot-Marie-Tooth disease, type 4B1 (CMT4B1) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy. |
| Distal arthrogryposis type 2B | |
| Epilepsy, Absence | |
| Familial apoceruloplasmin deficiency | |
| Purpura, Thrombotic Thrombocytopenic | |
| Spermatogenic Failure, Nonobstructive, Y-Linked | |
| Mucopolysaccharidosis IV | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain. |
| Hypesthesia | |
| Cleft palate X-linked | |
| Dyschromatosis symmetrica hereditaria 1 | |
| Nephrosclerosis | |
| SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT | |
| Inappropriate ADH Syndrome | |
| Metachromatic Leukodystrophy due to Saposin B Deficiency | |
| Hypokalemic Periodic Paralysis | OMIM mapping confirmed by DO. [SN]. |
| Cardiomyopathy, Dilated, 1t | |
| Deafness, Autosomal Recessive 71 | |
| Hyperprolactinemia | An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood. |
| HYPERCHOLESTEROLEMIA, FAMILIAL | |
| Enteritis | |
| Prostatitis | Infiltration of inflammatory cells into the parenchyma of PROSTATE. The subtypes are classified by their varied laboratory analysis, clinical presentation and response to treatment. |
| Deafness, autosomal recessive 55 | |
| CONE-ROD DYSTROPHY, X-LINKED, 1 | |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy | |
| Paine syndrome | |
| Fish Diseases | |
| Myopia 9 | |
| Biliary Cirrhosis, Primary, 3 | |
| Limb-mammary syndrome | |
| Porphyria, Erythropoietic | |
| Potassium aggravated myotonia | Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia (see these terms). |
| Parapsoriasis | |
| Alstrom Syndrome | An autosomal recessive disease that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene. |
| Conjunctival Diseases | |
| Digestive System Neoplasms | |
| Cerebrovascular Disorders | |
| Atelosteogenesis, type 1 | Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings. |
| Sepsis | Systemic disease associated with the presence of pathogenic microorganisms or their toxins in the blood.|Systemic inflammatory response syndrome with a proven or suspected infectious etiology. When sepsis is associated with organ dysfunction distant from the site of infection, it is called severe sepsis. When sepsis is accompanied by HYPOTENSION despite adequate fluid infusion, it is called SEPTIC SHOCK.|The presence of pathogenic microorganisms in the blood stream causing a rapidly progressing systemic reaction that may lead to shock. Symptoms include fever, chills, tachycardia, and increased respiratory rate. It is a medical emergency that requires urgent medical attention.|Septicemia caused by pyogenic microorganisms (e.g., STAPHYLOCOCCUS; BACILLUS), resulting in the formation of secondary foci of SUPPURATION and multiple ABSCESSES.|A disease of infectious agent resulting from the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions. These pathogens are able to cause disease in animals and/or plants. Infectious pathologies are usually qualified as contagious disease (also called communicable disease) due to their potentiality of transmission from one person or species to another.|Sepsis associated with organ dysfunction distant from the site of infection. |
| Chromosome 3, monosomy 3p25 | |
| Smith-Lemli-Opitz Syndrome | OMIM mapping confirmed by DO. [LS]. |
| Ophthalmoplegia, Chronic Progressive External | |
| Oculocutaneous albinism type 2 | Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm. |
| Amaurosis congenita of Leber, type 1 | |
| Glutamine deficiency, congenital | |
| Anaphylaxis | anomaly in a reaction manifested by localized or generalized reaction that occurs immediately (minutes) after exposure to an antigen to which the person/animal was previously sensitized; it is IgE-mediated, and mast cell activation and degranulation are hallmarks |
| Pyloric Stenosis, Infantile Hypertrophic, 3 | |
| Prieto X-linked mental retardation syndrome | |
| Aagenaes syndrome | A syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts. |
| Epilepsy, Nocturnal Frontal Lobe, Type 4 | |
| Birt-Hogg-Dube Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Amyloid Neuropathies, Familial | |
| Myopathy, Early-Onset, with Fatal Cardiomyopathy | |
| Hepatomegaly | Abnormally increased size of the liver. |
| Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | |
| Zellweger Syndrome | A peroxisomal disease that is characterized by the reduction or absence of functional peroxisomes in the cells of an individual that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes. |
| Infarction | |
| 2-Hydroxyglutaricaciduria | An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage. |
| Cardiomyopathy, Dilated, 1EE | |
| Epilepsy, Nocturnal Frontal Lobe, Type 2 | |
| Larsen syndrome, dominant type | |
| Sulfite oxidase deficiency | Abnormally reduced sulfite oxidase activity. |
| Retinal Nonattachment, Nonsyndromic Congenital | |
| HETEROTAXY, VISCERAL, 2, AUTOSOMAL | |
| Joint Instability | |
| Diabetic Retinopathy | Disease of the RETINA as a complication of DIABETES MELLITUS. It is characterized by the progressive microvascular complications, such as ANEURYSM, interretinal EDEMA, and intraocular PATHOLOGIC NEOVASCULARIZATION. |
| Myopia 2 | |
| Sarcoma, Alveolar Soft Part | |
| Glucocorticoid-Remediable Aldosteronism | OMIM mapping confirmed by DO. [SN]. |
| Glaucoma, Angle-Closure | |
| Muscle Hypertonia | |
| Microvascular Angina | |
| Cataract, Coppock-Like | |
| SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS | A spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints. |
| Phosphorus Metabolism Disorders | |
| Acromesomelic dysplasia, Maroteaux type | An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the located_in vertebral column and shortening of middle and distal segments in the located_in limb. |
| Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity | |
| Pelizaeus-Merzbacher Disease | OMIM mapping confirmed by DO. [SN]. |
| Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema | |
| Ectodermal Dysplasia 1, Anhidrotic | |
| Marshall syndrome | |
| Gastrinoma | A neuroendocrine tumor that results_in an overproduction of gastric acid. |
| Persistent Fetal Circulation Syndrome | OMIM mapping confirmed by DO. [SN]. |
| SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY | |
| Ileitis | An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss. |
| CANDIDIASIS, FAMILIAL, 2 | |
| Respiratory Distress Syndrome, Adult | |
| Newfoundland Rod-Cone Dystrophy | |
| ACROPECTOROVERTEBRAL DYSPLASIA | |
| Adrenocortical Carcinoma, Hereditary | |
| Pyruvate Kinase Deficiency of Red Cells | |
| Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration | |
| Glycogen Storage Disease Type I | A glycogen storage disease that has_material_basis_in deficiency of the glucose-6-phosphatase enzyme which impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis and is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly. |
| Puberty, Delayed | |
| Spondyloepiphyseal dysplasia, congenita | OMIM mapping confirmed by DO. [SN]. |
| Esophageal Diseases | |
| Angina, Stable | |
| Mowat-Wilson syndrome | Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR; see this term) and variable congenital malformations. |
| EXUDATIVE VITREORETINOPATHY 2, X-LINKED | |
| Familial Mediterranean Fever | A hypersensitivity reaction type II disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; caused by mutations in the MEFV gene, which encodes the protein pyrin. |
| Nephropathy, Progressive, with Deafness | |
| Enchondromatosis | |
| Endocrine System Diseases | |
| Liver Neoplasms | |
| Hemorrhoids | |
| Progressive supranuclear palsy atypical | |
| Signs and Symptoms, Respiratory | |
| Factor VII Deficiency | |
| Arrhythmia, Sinus | |
| Retinitis Pigmentosa 30 | |
| Porokeratosis, disseminated superficial actinic 1 | |
| Renal cysts and diabetes syndrome | Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome. |
| MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY | |
| Proteus Infections | |
| Renal Failure, Progressive, with Hypertension | |
| MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 | |
| Aphonia | |
| MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 | |
| MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 | |
| MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 | |
| Lymphangioleiomyomatosis | |
| Febrile Convulsions, Familial, 7 | |
| Transient bullous dermolysis of the newborn | Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. |
| Carotid Intimal Medial Thickness 1 | |
| Febrile Convulsions, Familial, 6 | |
| Pterygium | A fleshy mass of thickened conjunctiva that grows over part of the cornea usually from the inner side of the eyeball and causes a disturbance of vision. |
| Meige Syndrome | A cranio-facial dystonia that is accompanied by blepharospasm. |
| Aneurysm, Intracranial Berry, 6 | |
| COGNITIVE FUNCTION 1, SOCIAL | |
| Febrile Convulsions, Familial, 1 | |
| Stickler Syndrome, Type I, Nonsyndromic Ocular | |
| Hereditary macular coloboma | |
| Woolly hair, congenital | |
| Anemia, Hemolytic, Autoimmune | |
| Anemia, Neonatal | |
| Glycogen Storage Disease of Heart, Lethal Congenital | |
| AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY | |
| Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive | |
| Sudden Infant Death | |
| Obesity, Morbid | |
| Aspartylglucosaminuria | OMIM mapping confirmed by DO. [SN]. |
| Diaphragmatic Hernia 3 | |
| IRAK4 Deficiency | |
| RETINITIS PIGMENTOSA 58 | |
| Glycosuria, Renal | |
| Butyrylcholinesterase deficiency | |
| Spondyloepimetaphyseal Dysplasia, Pakistani Type | A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. |
| Retinal Hemorrhage | Hemorrhage occurring within the retina. |
| Groenouw type I corneal dystrophy | |
| Neuropathy, hereditary motor and sensory, LOM type | |
| OROFACIAL CLEFT 6, SUSCEPTIBILITY TO | |
| Cataract, Congenital Nuclear, Autosomal Recessive 3 | |
| Sandhoff Disease | OMIM mapping confirmed by DO. [SN]. |
| Amnesia, Retrograde | disease cluster belonging to disease group unknown |
| Leukemia | A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.|A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)|A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years. |
| Major Affective Disorder 2 | |
| Major Affective Disorder 3 | |
| Megacystis microcolon intestinal hypoperistalsis syndrome | Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder, microcolon and decreased or absent intestinal peristalsis. |
| Major Affective Disorder 1 | |
| Major Affective Disorder 6 | |
| Major Affective Disorder 7 | |
| Malaria, Falciparum | |
| Major Affective Disorder 5 | |
| Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor | |
| CONE-ROD DYSTROPHY 15 | |
| Essential Tremor | A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms. |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type | |
| Sleep Disorders | |
| Cerebral Hemorrhage | Hemorrhage into the parenchyma of the brain. |
| Hyperprolinemia type 2 | Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay. |
| Idiopathic Hypogonadotropic Hypogonadism | |
| Werner Syndrome | OMIM mapping confirmed by DO. [LS]. |
| Persian Gulf Syndrome | A syndrome affecting returning military veterans and civilian workers of the Gulf War. |
| Woods Black Norbury syndrome | |
| Color Vision Defects | |
| Korsakoff Syndrome | OMIM mapping confirmed by DO. [LS]. |
| Diamond-Blackfan Anemia 10 | |
| Short chain Acyl CoA dehydrogenase deficiency | Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy. |
| Arrest of spermatogenesis | block of the process by which spermatogonial stem cells divide and differentiate into spermatozoa |
| Proud Syndrome | |
| Panic Disorder | An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress. |
| Diarrhea 5, With Tufting Enteropathy, Congenital | |
| Esophageal Squamous Cell Carcinoma | A squamous cell carcinoma arising from the esophagus. It is associated with a long history of tobacco and alcohol abuse and is exceedingly rare before the age of 30. The median age is around 65 in both males and females. It is located mostly in the middle and lower third of the esophagus. Grossly, polypoid, ulcerated, plaque-like and occult lesions have been described. The microscopic features are the same as in other squamous cell carcinomas. Any degree of differentiation may occur, and variation within a single tumor is common. The prognosis is poor. |
| von Willebrand Disease, Type 2 | |
| Spinocerebellar ataxia 14 | |
| Coma, Post-Head Injury | |
| Hereditary Angioedema Types I and II | |
| Amblyopia | |
| Adrenal Gland Neoplasms | |
| von Willebrand Disease, Type 1 | |
| Hyperlipidemias | |
| Immune System Diseases | |
| Renal Osteodystrophy | |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 | |
| Epidermolysis Bullosa | |
| Disseminated Intravascular Coagulation | |
| Parietal Foramina With Cleidocranial Dysplasia | |
| Ichthyosis prematurity syndrome | |
| Arenaviridae Infections | |
| Hypothalamic hamartomas | |
| Favism | A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans. |
| Ataxia | |
| Deafness, Autosomal Recessive 20 | |
| Poliomyelitis | A viral infectious disease that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, has_symptom muscle spasms, and has_symptom acute flaccid paralysis. |
| Corneal Dystrophy, Lattice Type IIIA | |
| Pseudovaginal Perineoscrotal Hypospadias | 46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis. |
| Neoplasm Invasiveness | |
| Deafness, Autosomal Dominant 20 | |
| Abnormalities, Drug-Induced | |
| Reperfusion Injury | |
| Optic Atrophy, Autosomal Dominant | |
| Deafness, Autosomal Dominant 24 | |
| Microvillus inclusion disease | |
| Thrombotic Microangiopathies | |
| Polyploidy | |
| Liver Failure, Acute | |
| Eiken Skeletal Dysplasia | |
| Dysphonia | An impairment in the ability to produce voice sounds. |
| Hypersensitivity, Immediate | |
| Nephrogenic Syndrome of Inappropriate Antidiuresis | Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels. |
| Chediak-Higashi Syndrome | OMIM mapping confirmed by DO. [SN]. |
| ALPORT SYNDROME, X-LINKED | |
| Neoplastic Processes | |
| Anemia, hypochromic microcytic | |
| Deafness, Autosomal Recessive 23 | |
| Parkinsonian Disorders | |
| Parkinson Disease 4, Autosomal Dominant Lewy Body | |
| Mental Retardation, X-Linked, Syndromic 10 | |
| Wasting Syndrome | |
| Retinitis Pigmentosa 10 | |
| Focal Segmental Glomerulosclerosis 5 | |
| REYNOLDS SYNDROME | Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc) (see these terms). |
| Palmoplantar Keratoderma, Nonepidermolytic | |
| Glycogen Storage Disease IC | |
| Fever | Elevated body temperature due to failed thermoregulation. |
| Enterocolitis, Necrotizing | |
| Inclusion body myopathy autosomal recessive | |
| Tuberculosis, Pulmonary | |
| Heart Failure | |
| Coronary Artery Disease, Autosomal Dominant, 1 | |
| Hypophosphatasia, Childhood | |
| Brody myopathy | OMIM mapping confirmed by DO. [SN]. |
| Dementia, Vascular | |
| Hemangioma, Cavernous, Central Nervous System | |
| Drug-Related Side Effects and Adverse Reactions | |
| Polycystic kidneys, severe infantile with tuberous sclerosis | |
| Respiratory Hypersensitivity | |
| Gamma aminobutyric acid transaminase deficiency | A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. |
| Ureteral Neoplasms | |
| Desmoid disease, hereditary | |
| Down Syndrome | A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. |
| Spinocerebellar Ataxia 31 | |
| Pyruvate Carboxylase Deficiency Disease | OMIM mapping confirmed by DO. [SN]. |
| Muscular Atrophy, Spinal | |
| IMMUNE SUPPRESSION | |
| Osteogenesis imperfecta, type VIII | |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 | |
| Macrostomia | Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). |
| Insect Bites and Stings | |
| Hyper-IgM Immunodeficiency Syndrome | |
| Brachydactyly, Type B1 | |
| Solitary Fibrous Tumors | |
| Martin-Probst Deafness-Mental Retardation Syndrome | |
| Arthritis, Psoriatic | |
| Thyroid Diseases | |
| Duodenal Ulcer | Adding UMLS CUI for Curling Ulcer C0013295. |
| Afibrinogenemia congenital | |
| Diabetes Insipidus | |
| Scotoma | |
| Sick Building Syndrome | An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building. |
| ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2 | |
| Facial Asymmetry | An abnormal difference between the left and right sides of the face. |
| Bjornstad syndrome | OMIM mapping confirmed by DO. [SN]. |
| Peptic Ulcer | An ulcer of the gastrointestinal tract. |
| Polyneuropathies | |
| Hypospadias 2, X-Linked | |
| Eosinophilia-Myalgia Syndrome | |
| Immunodeficiency due to Defect in MAPBP-Interacting Protein | |
| Goldberg-Shprintzen megacolon syndrome | |
| Deafness, Autosomal Dominant 2A | |
| Bacterial Infections | |
| Mucopolysaccharidosis I | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase. |
| T-cell immunodeficiency, congenital alopecia and nail dystrophy | |
| ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 6 | |
| Idiopathic Pulmonary Fibrosis | Chronic and progressive fibrosis of the lung parenchyma of unknown cause. |
| Gallbladder Neoplasms | |
| Cerebral Amyloid Angiopathy, Familial | |
| Rubinstein-Taybi Syndrome | An autosomal dominant disease characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes; additionally it can include eye abnormalities, heart and kidney defects, dental problems and obesity. |
| CATARACT, CONGENITAL OR JUVENILE | |
| Diabetes Mellitus, Insulin-Dependent, 8 | |
| Rickets | A bone remodeling disease that has_material_basis_in a vitamin D deficiency in children which results_in softening and deformity located_in bone. |
| Kniest dysplasia | An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. |
| Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations | |
| Gaucher Disease, Perinatal Lethal | |
| Pyridoxine-dependent epilepsy | |
| Complement Component 6 Deficiency | NT MGI. |
| MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) | |
| Dystonia | |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 | |
| Metatropic dwarfism | Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood. |
| Nephritis, Hereditary | |
| Oligohydramnios | A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion. |
| Spinal Cord Compression | External mechanical compression of the spinal cord. |
| Foveal Hypoplasia and Anterior Segment Dysgenesis | |
| Retinal Cone Dystrophy 4 | |
| Muscle Spasticity | A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. |
| Pneumothorax | |
| TRITANOPIA | A color blindness that is characterised by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function. |
| Cerebrovascular Trauma | |
| Retinitis Pigmentosa 41 | |
| Glutamate formiminotransferase deficiency | |
| Thrombocytopenia, Neonatal Alloimmune | |
| Tachycardia, Ventricular | |
| Intestinal Polyps | A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base. |
| Seckel syndrome 1 | |
| Spherocytosis, Type 4 | |
| Nephronophthisis 3 | |
| Factor XII Deficiency | OMIM mapping confirmed by DO. [SN]. |
| Stickler syndrome, type 1 | |
| Prostatism | |
| BETA-AMINO ACIDS, RENAL TRANSPORT OF | |
| Nonmedullary thyroid carcinoma, with or without cell oxyphilia | |
| Diabetes Insipidus, Neurogenic | |
| Arthrogryposis renal dysfunction cholestasis syndrome | |
| Myopia 1 | |
| Inherited Peripheral Neuropathy | |
| Generalized Epilepsy With Febrile Seizures Plus, Type 2 | |
| Intracranial Hemorrhage, Traumatic | |
| CONOTRUNCAL HEART MALFORMATIONS | |
| Thrombasthenia | |
| Amnesia, Transient Global | |
| Spongiform Encephalopathy with Neuropsychiatric Features | |
| Cantu syndrome | |
| Neurologic Manifestations | |
| Spinocerebellar ataxia 30 | |
| Gestational Trophoblastic Disease | |
| Mental Retardation, X-Linked 50 | |
| Neurodegeneration with brain iron accumulation (NBIA) | |
| Lymphoma, Extranodal NK-T-Cell | |
| Night Blindness, Congenital Stationary, Autosomal Dominant 2 | |
| Hepatitis, Animal | |
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 | |
| SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY | |
| Oto-Palato-digital syndrome type 1 | Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies. |
| Tachycardia, Ectopic Junctional | |
| Crohn Disease | An intestinal disease that involves inflammation located_in intestine. |
| Cataract, Congenital Nuclear, Autosomal Recessive 2 | |
| Cutis laxa, recessive | |
| Cubitus Valgus with Mental Retardation and Unusual Facies | |
| Smooth Muscle Tumor | |
| Embryo Loss | |
| Hematoma, Epidural, Spinal | |
| Lipodystrophy, Congenital Generalized, Type 3 | |
| Hemochromatosis, type 3 | Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin. |
| Hemochromatosis, type 4 | Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin. |
| Lipodystrophy, Congenital Generalized, Type 4 | |
| Deafness, Autosomal Recessive 6 | |
| Skin Neoplasms | |
| Segawa syndrome, autosomal recessive | |
| Mental Retardation, Autosomal Dominant 1 | |
| Ophthalmoplegia, External, and Myopia | |
| Hypothyroidism | A deficiency of thyroid hormone. |
| Craniofacioskeletal Syndrome | |
| Night Blindness, Congenital Stationary, Autosomal Dominant 1 | |
| SPERMATOGENIC FAILURE 4 | |
| Vision, Low | |
| Gonadal Dysgenesis, 46,XY | |
| Adenomatous Polyps | |
| Myositis, Inclusion Body | |
| Aromatase deficiency | Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men. |
| Heterotopia, Periventricular, Associated With Chromosome 5q Deletion | |
| Seizures | Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures. |
| Gonadal dysgenesis XX type deafness | |
| MENTAL HEALTH WELLNESS 2 | |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 | |
| Urocanase deficiency | |
| Spastic paraplegia 19, autosomal dominant | |
| Meningioma | A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges. |
| Episodic Kinesigenic Dyskinesia 2 | |
| Deafness, Autosomal Recessive 63 | |
| Chromosome Xp11.3 Deletion Syndrome | |
| MULTIPLE SYNOSTOSES SYNDROME 1 | |
| Glomerulosclerosis, Focal Segmental | |
| Hypobetalipoproteinemia, Familial, 2 | |
| Deafness, Autosomal Recessive 66 | |
| Corneal Dystrophy, Fuchs Endothelial, 5 | |
| Sinus Arrest, Cardiac | |
| Kidney Calculi | |
| Liver Diseases, Alcoholic | |
| Hepatolenticular Degeneration | OMIM mapping confirmed by DO. [SN]. |
| Lethal Arthrogryposis With Anterior Horn Cell Disease | |
| Phosphoserine Aminotransferase Deficiency | A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid. |
| Macular Edema | |
| Frontonasal dysplasia | |
| PARKINSON DISEASE 11, AUTOSOMAL DOMINANT | |
| HYPERGLYCINURIA | An increased concentration of glycine in the urine. |
| Noonan Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Infertility | Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility. |
| Muscular Dystrophy, Duchenne | A muscular dystrophy that has_material_basis_in X-linked disease caused by mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy. |
| Neuroblastoma | A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation.|A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51)|A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome (MeSH). |
| Tn Syndrome | |
| Deafness, Sensorineural, And Male Infertility | |
| Ectodermal dysplasia, hypohidrotic, with immune deficiency | |
| Polydactyly, Postaxial, Type A3 | |
| Corneal Dystrophy, Fuchs Endothelial, 4 | |
| Preterm Premature Rupture of the Membranes | |
| Adenoma | A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract.|A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract. |
| Rhabdomyoma | A benign tumor of striated muscle. |
| Stuttering, Familial Persistent 2 | |
| alpha-Thalassemia | Alpha thalassemia is a thalassemia involving the genes HBA1and HBA2 hemoglobin genes. |
| AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 | |
| Facial Pain | |
| Starvation | |
| Argininosuccinic Aciduria | An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine. |
| GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO | |
| Waldenstrom Macroglobulinemia | A malignant monoclonal gammopathy characterized by a high level of an IgM monoclonal protein. |
| Leukopenia | decrease in no. of leukocytes |
| Inflammatory Bowel Diseases | |
| Gerstmann-Straussler-Scheinker Disease | A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain. |
| Hypophosphatasia, Infantile | |
| Ichthyosis, X-Linked | |
| Metabolic Diseases | |
| Hemiplegia | |
| Hydrocephalus | A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head. |
| MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) | |
| SPEECH-LANGUAGE DISORDER 1 | |
| Disorders of Sex Development | |
| Dent disease 1 | 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. |
| Musculoskeletal Diseases | |
| Norrie disease | Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders. |
| Contiguous Abcd1/Dxs1375e Deletion Syndrome | |
| HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 2 | |
| Single upper central incisor | |
| Hypereosinophilic Syndrome | |
| Hereditary Sensory and Autonomic Neuropathies | |
| NEPHROLITHIASIS, URIC ACID, SUSCEPTIBILITY TO | |
| Immunoglobulin a deficiency 2 | |
| Osteonecrosis | Death of a bone or part of a bone, either atraumatic or posttraumatic. |
| Juvenile polyposis syndrome | An autosomal dominant disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum. |
| Immunoglobulin a deficiency 1 | |
| Rippling muscle disease, 1 | |
| Corneal dystrophy of Bowman layer, type 1 | |
| HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3 | |
| Late-Onset Retinal Degeneration | |
| HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 5 | |
| HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY | |
| HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 | |
| Tay-Sachs Disease | OMIM mapping confirmed by DO. [SN]. |
| Spastic Paraplegia 18, Autosomal Recessive | |
| Glucosephosphate Dehydrogenase Deficiency | A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH). |
| Takotsubo Cardiomyopathy | Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation. |
| Cherubism | OMIM mapping confirmed by DO. [SN]. |
| TRICHORHINOPHALANGEAL SYNDROME, TYPE I | An autosomal dominant disease that is characterized by thin, sparse scalp hair, unusual facial features, abnormalities of the fingers and/or toes, and multiple abnormalities of the growing ends (epiphyses) of the bones (skeletal dysplasia), especially in the hands and feet. |
| Deafness, Autosomal Recessive 7 | |
| Supratentorial Neoplasms | |
| Vesico-Ureteral Reflux | A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter. |
| Phlebitis | A vein disease that is characterized by inflammation of a vein. |
| Ear Diseases | |
| Genital Diseases, Female | |
| Fetal Nutrition Disorders | |
| Blepharoptosis | An eye disease characterized by the drooping or falling of the upper or lower eyelid. |
| Myopia 15 | |
| Deafness, Autosomal Dominant 36 | |
| Naegeli syndrome | |
| Lenz Majewski hyperostotic dwarfism | Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis. |
| Myoclonic Epilepsy, Juvenile | |
| Inflammation | |
| Anemia, Dyserythropoietic, Congenital | |
| Orofaciodigital syndrome, Shashi type | |
| Angelman Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Hypoalbuminemia | Reduction in the concentration of albumin in the blood. |
| Arteriovenous Malformations | |
| Purpura Fulminans | |
| Nemaline Myopathy 7 | |
| Metaphyseal Anadysplasia 2 | |
| Brachydactyly, Type D | This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes. |
| Mitochondrial complex I deficiency | |
| Anthracosis | |
| Periapical Periodontitis | |
| Carbohydrate Metabolism, Inborn Errors | |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B | |
| Trichoepithelioma, Multiple Familial, 2 | |
| Ossification, Heterotopic | |
| Nasopharyngeal Neoplasms | |
| Histiocytosis with joint contractures and sensorineural deafness | |
| Sphincter of Oddi Dysfunction | A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree. |
| Blue cone monochromatism | |
| WHIM syndrome | WHIM (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasionnal hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma). |
| Thrombocytopenia Paris-Trousseau type | |
| Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked | |
| Neuroleptic Malignant Syndrome | |
| Leiomyomatosis, esophageal and vulval, with nephropathy | |
| Acatalasia | |
| Epilepsy, Familial Temporal Lobe, 4 | |
| Retinopathy of Prematurity | |
| Stupor | |
| Witkop syndrome | |
| Congenital Disorder Of Glycosylation, Type IIB | |
| Diabetes Mellitus, Experimental | |
| Melanoma-Pancreatic Cancer Syndrome | |
| Immune dysfunction with T-cell inactivation due to calcium entry defect 1 | |
| Immune dysfunction with T-cell inactivation due to calcium entry defect 2 | |
| Carcinoma, Ductal | |
| Hepatitis, Autoimmune | |
| Urologic Neoplasms | |
| Growth Retardation, Developmental Delay, Coarse Facies, And Early Death | |
| Hepatic Insufficiency | |
| Polydactyly, preaxial 4 | |
| De Sanctis-Cacchione syndrome | |
| Charcot-Marie-Tooth disease, Type 4B2 | Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy. |
| Uveitis | |
| MYOCLONIC EPILEPSY, FAMILIAL INFANTILE | |
| Epiphyseal dysplasia, multiple, 1 | |
| Epiphyseal dysplasia, multiple, 3 | |
| Epiphyseal dysplasia, multiple, 2 | |
| Epiphyseal dysplasia, multiple, 5 | |
| Epiphyseal dysplasia, multiple, 4 | |
| Parkinsonism, early onset with mental retardation | |
| Glycogen Storage Disease Type V | OMIM mapping confirmed by DO. [SN]. |
| Oculocutaneous albinism type 3 | Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population. |
| Myopia 7 | |
| Oculocutaneous albinism type 1 | Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms). |
| Epilepsy, Nocturnal Frontal Lobe, Type 3 | |
| Granulomatous Disease, Chronic, X-Linked | |
| Epilepsy, Nocturnal Frontal Lobe, Type 1 | |
| Hemoglobinopathies | |
| Ureteral Obstruction | |
| Catatonia | |
| Macular dystrophy, corneal type 1 | |
| Parkinson Disease 7, Autosomal Recessive Early-Onset | |
| Fetal Distress | |
| Amyotrophic Lateral Sclerosis 2, Juvenile | A type of ALS with juvenile onset caused_by mutation located_in alsin gene located_in chromosome 2. |
| Follicle-stimulating hormone deficiency, isolated | |
| Aneurysm, Intracranial Berry, 7 | |
| Legg-Calve-Perthes Disease | An osteochondrosis that results_in death and fracture located_in hip joint. |
| Vertigo | An abnormal sensation of spinning while the body is actually stationary. |
| Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia | |
| Aneurysm, Intracranial Berry, 1 | |
| ACTH-Secreting Pituitary Adenoma | A functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome. |
| Ankyloblepharon filiforme adnatum cleft palate | |
| Ovarian Hyperstimulation Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Burkitt Lymphoma | A mature B-cell neoplasm of B-cells found in the germinal center. |
| Schistosomiasis mansoni | |
| Pyropoikilocytosis, Hereditary | |
| Tetany | A disorder characterized by muscle twitches, cramps, and carpopedal spasm, and when severe, laryngospasm and seizures. This condition is associated with unstable depolarization of axonal membranes, primarily in the peripheral nervous system. |
| Polycythemia | Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume. |
| Mammary Neoplasms, Experimental | |
| Job Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Myopathy, Reducing Body, X-Linked, Early-Onset, Severe | |
| Akathisia, Drug-Induced | |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | |
| Eye Infections, Bacterial | |
| Corneal Dystrophies, Hereditary | |
| Neutropenia, Severe Congenital, Autosomal Recessive 4 | |
| Homocarnosinosis | A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine. |
| Diabetes Mellitus, Insulin-Dependent, 3 | |
| Diabetes Mellitus, Insulin-Dependent, 2 | |
| Hidradenitis Suppurativa | OMIM mapping confirmed by DO. [SN]. |
| Tics | |
| Diabetes Mellitus, Insulin-Dependent, 7 | |
| Corneal Ulcer | |
| Diabetes Mellitus, Insulin-Dependent, 5 | |
| Diabetes Mellitus, Insulin-Dependent, 4 | |
| Nanophthalmos 3 | |
| Branchiootic Syndrome 2 | |
| Deafness, Autosomal Dominant 3B | |
| Hyperostosis, Cortical, Congenital | |
| Liddle Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Deafness, Autosomal Dominant 3A | |
| Spinocerebellar Degenerations | |
| Medullary cystic kidney disease 1 | |
| Insulin Resistance | diminished effectiveness of insulin in lowering plasma glucose levels |
| Fatigue | A subjective feeling of tiredness characterized by a lack of energy and motivation. |
| Microphthalmia, Isolated, with Coloboma 3 | |
| Microphthalmia, Isolated, with Coloboma 1 | |
| Lipodystrophy | |
| Leishmaniasis, Visceral | |
| Uremia | |
| Diabetes Mellitus, Type 1 | |
| Sick Sinus Syndrome | Xref MGI. |
| Rickettsia Infections | |
| Diabetes Mellitus, Type 2 | |
| Brain Diseases, Metabolic, Inborn | |
| Pancreatic Diseases | |
| Timothy syndrome | An autosomal dominant disease that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form caused by mutations in a transcript variant of CACNA1C. |
| Brachydactyly, Type A1, B | |
| Epilepsy, Partial, with Pericentral Spikes | |
| VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1 | |
| Vertigo, Benign Recurrent, 2 | |
| CATARACT 23 | |
| Lamellar ichthyosis, type 3 | |
| Mild Cognitive Impairment | disease cluster belonging to disease group neurological |
| NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B | |
| NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C | |
| NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A | |
| Blepharospasm | A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks. |
| Roifman-Chitayat Syndrome | |
| SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE | |
| Mandibular Diseases | |
| Nicolaides Baraitser syndrome | |
| Mosaic variegated aneuploidy syndrome | Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition. |
| Deafness, Autosomal Dominant 30 | |
| Deafness, Autosomal Dominant 31 | |
| Dentinogenesis imperfecta, shields type 3 | Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy). |
| Muscular Dystrophy, Congenital, Lmna-Related | |
| Ethylmalonic encephalopathy | |
| Sea-Blue Histiocyte Syndrome | OMIM mapping confirmed by DO. [SN]. |
| ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS | |
| Peeling skin syndrome, acral type | |
| Split-hand/foot malformation with long bone deficiency | |
| Vipoma | |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | |
| HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 4 | |
| Cardiomyopathy, Familial Hypertrophic, 14 | |
| Immunologic Deficiency Syndromes | |
| Sexual Dysfunctions, Psychological | |
| Limb-Girdle Muscular Dystrophy, Type 1G | |
| POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC | |
| Embolism and Thrombosis | |
| Telangiectasia, Hereditary Benign | |
| Thyroid Hormone Resistance, Selective Pituitary | |
| Lymphedema | |
| Heart Diseases | |
| Hip Dysplasia, Beukes Type | |
| Heart Arrest |
