# Disease(DOID)
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DOID:0050559 | Fukuyama congenital muscular dystrophy | null | null |
DOID:0050560 | Walker-Warburg syndrome | null | HARD syndrome EXACT [] |
DOID:0050561 | Lennox-Gastaut syndrome | null | Lennox syndrome EXACT [] |
DOID:0050562 | West syndrome | null | null |
DOID:0050563 | nonsyndromic deafness | An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms. [url:http\://en.wikipedia.org/wiki/Nonsyndromic_hearing_loss_and_deafness, url:http\://ghr.nlm.nih.gov/condition/nonsyndromic-deafness, url:http\://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0012742] | nonsyndromic hereditary hearing loss EXACT [] |
DOID:0050564 | autosomal dominant nonsyndromic deafness | A nonsyndromic deafness characterized by an autosomal dominant inheritance mode. [url:http\://ghr.nlm.nih.gov/condition/nonsyndromic-deafness] | autosomal dominant deafness EXACT [] |
DOID:0050565 | autosomal recessive nonsyndromic deafness | A nonsyndromic deafness characterized by an autosomal recessive inheritance mode. [url:http\://ghr.nlm.nih.gov/condition/nonsyndromic-deafness] | autosomal recessive deafness EXACT [] |
DOID:0050566 | X-linked nonsyndromic deafness | A nonsyndromic deafness characterized by an X-linked inheritance mode. [url:http\://ghr.nlm.nih.gov/condition/nonsyndromic-deafness] | X-linked deafness EXACT [] |
DOID:0050567 | orofacial cleft | null | null |
DOID:0050568 | spondylocostal dysostosis | A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together. [url:http\://en.wikipedia.org/wiki/Spondylocostal_dysostosis, url:http\://ghr.nlm.nih.gov/condition/spondylocostal-dysostosis] | spondylothoracic dysplasia EXACT [] |
DOID:0050569 | Seckel syndrome | An autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability. [url:http\://en.wikipedia.org/wiki/Seckel_syndrome] | Virchow-Seckel dwarfism EXACT [] |
DOID:0050570 | congenital disorder of glycosylation type I | A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor. [url:http\://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification] | SRD5A3-CDG (CDG-1q) EXACT [] |
DOID:0050571 | congenital disorder of glycosylation type II | A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain. [url:http\://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification] | MOGS-CDG (CDG-2b) EXACT [] |
DOID:0050572 | cone-rod dystrophy | A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells. [url:http\://lowvision.preventblindness.org/eye-conditions/cone-rod-dystrophy] | cone-rod retinal dystrophy EXACT [] |
DOID:0050573 | 2-hydroxyglutaric aciduria | An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage. [url:http\://en.wikipedia.org/wiki/2-Hydroxyglutaric_aciduria, url:http\://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria] | null |
DOID:0050574 | L-2-hydroxyglutaric aciduria | An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia). [url:http\://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria] | L-2-HYDROXYGLUTARIC ACIDEMIA EXACT [] |
DOID:0050575 | D-2-hydroxyglutaric aciduria | An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. [url:http\://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria] | null |
DOID:0050576 | 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. [url:http\://www.cigna.com/healthinfo/nord958.html] | renal-retinal syndrome EXACT [] |
DOID:0050577 | Sensenbrenner syndrome | null | Levin syndrome EXACT [] |
DOID:0050578 | 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. [url:www.iovs.org/content/41/2/513.full.pdf] | null |
DOID:0050579 | glycogen storage disease XV | null | glycogen storage disease type XV EXACT [] |
DOID:0050580 | hereditary lymphedema | A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system. [url:http\://en.wikipedia.org/wiki/Milroy%27s_disease] | Nonne-Milroy lymphedema EXACT [] |
DOID:0050581 | brachydactyly | A bone development disease characterized by short fingers and toes. [url:http\://en.wikipedia.org/wiki/Brachydactyly] | null |
DOID:0050583 | Chlamydophila pneumoniae infectious disease | null | null |
DOID:0050584 | gummatous syphilis | A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ. [url:http\://emedicine.medscape.com/article/229461-overview#a0104] | null |
DOID:0050585 | congenital generalized lipodystrophy | null | Beradinelli-Seip syndrome EXACT [] |
DOID:0050587 | trichotillomania | An impulse control disorder that involves the uncontrollable plucking of ones hair. [url:http\://www.forensicpsychiatry.ca/impulse/trich.htm] | null |
DOID:0050588 | muscular dystrophy-dystroglycanopathy | null | CMD due to dystroglycanopathy EXACT [ORDO:370953] |
DOID:0050589 | inflammatory bowel disease | An intestinal disease characterized by inflammation located_in all parts of digestive tract. [url:http\://en.wikipedia.org/wiki/Inflammatory_bowel_disease, url:http\://www.mayoclinic.org/diseases-conditions/inflammatory-bowel-disease/basics/definition/con-20034908] | null |
DOID:0050590 | severe congenital neutropenia | A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections. [url:http\://www.ncbi.nlm.nih.gov/pubmed/17133096] | null |
DOID:0050591 | tooth agenesis | A tooth disease characterized by failure to develop on or more missing teeth. [url:http\://en.wikipedia.org/wiki/Hypodontia] | selective tooth agenesis EXACT [] |
DOID:0050592 | asphyxiating thoracic dystrophy | null | Jeune syndrome EXACT [] |
DOID:0050593 | primary congenital glaucoma | null | null |
DOID:0050594 | glycogen storage disease IX | null | null |
DOID:0050595 | mucormycosis | null | null |
DOID:0050596 | taeniasis | A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted_by ingestion of undercooked contaminated meat. [url:http\://en.wikipedia.org/wiki/Taeniasis] | Taenia saginata infectious disease RELATED [] |
DOID:0050597 | intestinal schistosomiasis | A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia. [url:http\://en.wikipedia.org/wiki/Schistosomiasis] | schistosomiasis japonica EXACT [] |
DOID:0050598 | extrapulmonary tuberculosis | A tuberculosis that occurs at body sites other than the lung. [url:http\://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf] | null |
DOID:0050599 | abdominal tuberculosis | An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas. [url:http\://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf] | null |
DOID:0050600 | 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). [url:http\://en.wikipedia.org/wiki/ABCD_syndrome, url:http\://omim.org/entry/600501] | ALBINISM, BLACK LOCK, CELL MIGRATION DISORDER OF THE NEUROCYTES OF THE GUT, AND DEAFNESS EXACT [] |
DOID:0050601 | ADULT syndrome | An autosomal dominant disease that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63. [url:http\://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.30900/pdf] | acro-dermato-ungual-lacrimal-tooth syndrome EXACT [] |
DOID:0050602 | triple-A syndrome | null | Allgrove Syndrome EXACT [] |
DOID:0050603 | acheiropody | null | Horn-Kolb Syndrome EXACT [] |
DOID:0050604 | acrocapitofemoral dysplasia | null | null |
DOID:0050605 | acrodermatitis enteropathica | null | null |
DOID:0050606 | acrokeratosis verruciformis | null | Hopf disease EXACT [] |
DOID:0050608 | Askin's tumor | null | Askin tumor EXACT [] |
DOID:0050610 | oral cavity carcinoma in situ | null | null |
DOID:0050611 | pharynx carcinoma in situ | null | null |
DOID:0050612 | gall bladder carcinoma in situ | null | null |
DOID:0050613 | bile duct carcinoma in situ | null | null |
DOID:0050614 | bronchus carcinoma in situ | null | null |
DOID:0050615 | respiratory system cancer | An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract. [url:http\://en.wikipedia.org/wiki/Respiratory_tract_neoplasm] | null |
DOID:0050616 | malignant Leydig cell tumor | null | malignant Leydig cell neoplasm EXACT [NCI2004_11_17:C4213] |
DOID:0050617 | malignant Sertoli cell tumor | null | null |
DOID:0050618 | malignant Sertoli-Leydig cell tumor | null | null |
DOID:0050619 | paranasal sinus cancer | A respiratory system cancer that is located_in the paranasal sinuses. [url:http\://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient/page1] | squamous cell carcinoma of paranasal sinus RELATED [] |
DOID:0050620 | infiltrating renal pelvis transitional cell carcinoma | null | null |
DOID:0050621 | respiratory system benign neoplasm | An organ system benign neoplasm that is located_in the respiratory system which extends from the nasal sinuses to the diaphragm. [url:http\://en.wikipedia.org/wiki/Respiratory_system] | null |
DOID:0050622 | reproductive organ benign neoplasm | An organ system benign neoplasm that is located_in reproductive system organs. [url:http\://en.wikipedia.org/wiki/Reproductive_system] | null |
DOID:0050623 | bladder benign neoplasm | null | null |
DOID:0050624 | gastrointestinal system benign neoplasm | An organ system benign neoplasm located_in gastrointestinal tract organs. [url:http\://en.wikipedia.org/wiki/Human_gastrointestinal_tract] | null |
DOID:0050625 | biliary tract neoplasm | A hepatobiliary benign neoplasm located_in the biliary tract. [url:http\://en.wikipedia.org/wiki/Hepatobiliary_system#Biliary_tract] | tumor of the extrahepatic bile duct EXACT [NCI2004_11_17:C4441] |
DOID:0050626 | gastrointestinal neuroendocrine tumor | A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells. [url:http\://en.wikipedia.org/wiki/Neuroendocrine_tumor, url:http\://www.cancer.gov/dictionary?CdrID=44904] | malignant gastrointestinal neuroendocrine tumor EXACT [] |
DOID:0050628 | advanced sleep phase syndrome | A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning. [url:http\://en.wikipedia.org/wiki/Advanced_sleep_phase_syndrome] | familial advanced sleep-phase syndrome EXACT [] |
DOID:0050629 | 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. [url:http\://omim.org/entry/225750, url:http\://www.ncbi.nlm.nih.gov/books/NBK1475/] | Cree encephalitis EXACT [] |
DOID:0050630 | Aland Island eye disease | null | FORSIUS-ERIKSSON TYPE OCULAR ALBINISM EXACT [] |
DOID:0050631 | 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. [url:http\://ghr.nlm.nih.gov/condition/allan-herndon-dudley-syndrome, url:http\://omim.org/entry/300523] | ALLAN-HERNDON SYNDROME EXACT [] |
DOID:0050632 | oculocutaneous albinism | An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes. [url:en.wikipedia.org/wiki/Oculocutaneous_albinism, url:http\://ghr.nlm.nih.gov/condition/oculocutaneous-albinism] | null |
DOID:0050633 | ocular albinism | null | null |
DOID:0050634 | alopecia universalis | null | ALOPECIA UNIVERSALIS CONGENITA EXACT [] |
DOID:0050635 | alternating hemiplegia of childhood | A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body. [url:http\://en.wikipedia.org/wiki/Alternating_hemiplegia_of_childhood, url:http\://ghr.nlm.nih.gov/condition/alternating-hemiplegia-of-childhood] | AHC EXACT [] |
DOID:0050636 | familial visceral amyloidosis | null | systemic nonneuropathic amyloidosis EXACT [] |
DOID:0050637 | Finnish type amyloidosis | null | AMYLOIDOSIS, MERETOJA TYPE EXACT [] |
DOID:0050638 | transthyretin amyloidosis | An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene. [url:http\://en.wikipedia.org/wiki/Transthyretin-related_hereditary_amyloidosis, url:http\://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis, url:http\://www.ncbi.nlm.nih.gov/books/NBK1194/, url:http\://www.ncbi.nlm.nih.gov/pubmed/?term=19372706, url:http\://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=85451] | TTR amyloidosis EXACT [] |
DOID:0050639 | primary cutaneous amyloidosis | An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis. [url:http\://www.ncbi.nlm.nih.gov/pubmed/19663869] | PCA EXACT [] |
DOID:0050640 | anauxetic dysplasia | null | null |
DOID:0050641 | Rh deficiency syndrome | null | null |
DOID:0050642 | hypochromic microcytic anemia | A microcytic anemia characterized by paler than normal blood cells. [url:http\://en.wikipedia.org/wiki/Hypochromic_anemia] | null |
DOID:0050643 | anonychia congenita | null | HYPONYCHIA CONGENITA EXACT [] |
DOID:0050644 | 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. [url:http\://en.wikipedia.org/wiki/Idiopathic_infantile_arterial_calcification, url:http\://www.omim.org/entry/208000] | infantile arteriosclerosis EXACT [] |
DOID:0050645 | arterial tortuosity syndrome | A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta. [url:http\://en.wikipedia.org/wiki/Arterial_tortuosity_syndrome, url:http\://ghr.nlm.nih.gov/condition/arterial-tortuosity-syndrome] | null |
DOID:0050646 | distal arthrogryposis | A muscle tissue disease characterized by congenital joint contractures of hand and feet. [url:http\://en.wikipedia.org/wiki/Arthrogryposis] | Sheldon-Hall syndrome EXACT [] |
DOID:0050647 | 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. [url:http\://ghr.nlm.nih.gov/condition/arts-syndrome, url:http\://www.ncbi.nlm.nih.gov/books/NBK2591/, url:http\://www.ncbi.nlm.nih.gov/pubmed/20301738, url:http\://www.omim.org/entry/301835, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1187&lng=EN] | Lethal ataxia with deafness and optic atrophy EXACT [] |
DOID:0050648 | atelosteogenesis | null | null |
DOID:0050649 | atransferrinemia | null | familial hypotransferrinemia EXACT [] |
DOID:0050650 | familial atrial fibrillation | An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes. [url:http\://en.wikipedia.org/wiki/Familial_atrial_fibrillation] | ATFB EXACT [] |
DOID:0050651 | atrioventricular septal defect | A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs. [url:http\://en.wikipedia.org/wiki/Atrioventricular_septal_defect, url:http\://www.cdc.gov/ncbddd/heartdefects/avsd.html] | endocardial cushion defect EXACT [] |
DOID:0050652 | soft tissue cancer | null | null |
DOID:0050653 | dysplastic nevus | null | nevus of Clark EXACT [] |
DOID:0050654 | Baller-Gerold syndrome | A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone. [url:http\://en.wikipedia.org/wiki/Baller%E2%80%93Gerold_syndrome, url:http\://ghr.nlm.nih.gov/condition/baller-gerold-syndrome, url:http\://www.ncbi.nlm.nih.gov/books/NBK1204/] | null |
DOID:0050655 | Bamforth-Lazarus syndrome | null | HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE EXACT [] |
DOID:0050656 | pseudo-TORCH syndrome | null | band-like calcification with simplified gyration and polymicrogyria EXACT [] |
DOID:0050657 | Bannayan-Riley-Ruvalcaba syndrome | null | RUVALCABA-MYHRE-SMITH SYNDROME EXACT [] |
DOID:0050658 | Bart-Pumphrey syndrome | null | KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS EXACT [] |
DOID:0050659 | biotin-responsive basal ganglia disease | null | null |
DOID:0050660 | Beare-Stevenson cutis gyrata syndrome | null | null |
DOID:0050661 | 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. [url:http\://en.wikipedia.org/wiki/Vitelliform_macular_dystrophy, url:http\://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy] | juvenile-onset vitelliform macular dystrophy EXACT [] |
DOID:0050662 | bestrophinopathy | null | autosomal recessive bestrophinopathy EXACT [] |
DOID:0050663 | Bethlem myopathy | null | benign congenital muscular dystrophy EXACT [] |