# Disease(DOID)
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DOID:0060175 | 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. [url:http\://en.wikipedia.org/wiki/Succinic_semialdehyde_dehydrogenase_deficiency#Mechanism] | SSADH EXACT [] |
DOID:0060176 | gamma-amino butyric acid metabolism disorder | An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway. [url:http\://www.ncbi.nlm.nih.gov/pubmed/12891648] | null |
DOID:0060177 | 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. [url:http\://en.wikipedia.org/wiki/Carnosinemia, url:http\://www.pndassoc.org/atf/cf/%7BC3CD1AA0-3DB0-43D2-ADA5-F1509D3000DE%7D/Pearl.pdf] | null |
DOID:0060178 | familial hemiplegic migraine | A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness. [url:http\://ghr.nlm.nih.gov/condition/familial-hemiplegic-migraine] | null |
DOID:0060179 | Renpenning syndrome | An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males. [url:http\://en.wikipedia.org/wiki/Renpenning%27s_syndrome] | null |
DOID:0060180 | colitis | An inflammatory bowel disease that involves inflammation located_in colon. [url:http\://en.wikipedia.org/wiki/Colitis] | null |
DOID:0060181 | ischemic colitis | A colitis caused_by inadequate blood supply to the colon. [url:http\://en.wikipedia.org/wiki/Ischemic_colitis, url:http\://www.mayoclinic.org/diseases-conditions/ischemic-colitis/basics/definition/con-20026677] | null |
DOID:0060182 | microscopic colitis | A colitis that can only be diagnosed_by the examination of colon tissue under a microscope. [url:http\://digestive.niddk.nih.gov/ddiseases/pubs/microcolitis/index.aspx, url:http\://en.wikipedia.org/wiki/Microscopic_colitis, url:http\://www.mayoclinic.org/diseases-conditions/microscopic-colitis/basics/definition/con-20026232] | null |
DOID:0060183 | collagenous colitis | A colitis characterized by a distinctive thickening of the subepithelial collagen table. [url:http\://digestive.niddk.nih.gov/ddiseases/pubs/microcolitis/index.aspx, url:http\://en.wikipedia.org/wiki/Collagenous_colitis] | null |
DOID:0060184 | lymphocytic colitis | A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria). [url:http\://digestive.niddk.nih.gov/ddiseases/pubs/microcolitis/index.aspx, url:http\://en.wikipedia.org/wiki/Lymphocytic_colitis] | null |
DOID:0060185 | Clostridium difficile colitis | A colitis characterized by an overgrowth of Clostridium difficile bacteria. [url:http\://en.wikipedia.org/wiki/Clostridium_difficile_colitis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000259.htm] | Pseudomembranous colitis EXACT [MSH:D004761] |
DOID:0060186 | chemical colitis | A colitis caused_by introduction of various chemicals. [url:http\://en.wikipedia.org/wiki/Chemical_colitis, url:http\://www.ncbi.nlm.nih.gov/pubmed/18209577] | null |
DOID:0060187 | diversion colitis | A colitis caused_by diversion of the fecal stream due to complication of ileostomy or colostomy. [url:http\://en.wikipedia.org/wiki/Diversion_colitis, url:http\://www.ncbi.nlm.nih.gov/pubmed/1916483] | null |
DOID:0060188 | jejunoileitis | An inflammatory bowel disease that is characterized by patchy areas of inflammation located_in jejunum, has_symptom abdominal pain, has_symptom diarrhea, has_symptom cramps and has_symptom formation of fistulas. [url:http\://en.wikipedia.org/wiki/Crohn%27s_disease, url:http\://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html, url:http\://www.ncbi.nlm.nih.gov/pubmed/15973125] | null |
DOID:0060189 | 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. [url:http\://en.wikipedia.org/wiki/Ileitis, url:http\://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html] | Crohn's ileitis EXACT [] |
DOID:0060190 | ileocolitis | An inflammatory bowel disease characterized by inflammation located_in colon and located_in ileum, has_symptom diarrhea, has_symptom weight loss, has_symptom abdominal pain in middle or lower right part. [url:http\://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html] | null |
DOID:0060191 | gastroduodenal Crohn's disease | An inflammatory bowel disease characterized by inflammation located_in stomach and located_in duodenum, has_symptom nausea, has_symptom vomiting, has_symptom weight loss and has_symptom loss of appetite. [url:http\://en.wikipedia.org/wiki/Crohn%27s_disease, url:http\://www.bidmc.org/Centers-and-Departments/Departments/Digestive-Disease-Center/Inflammatory-Bowel-Disease-Program/Crohns-Disease/What-are-the-types-of-Crohns-disease.aspx, url:http\://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html, url:http\://www.ncbi.nlm.nih.gov/pubmed/12769447] | upper GI Crohn's disease EXACT [] |
DOID:0060192 | Crohn's colitis | An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus. [url:http\://en.wikipedia.org/wiki/Crohn%27s_disease, url:http\://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html] | null |
DOID:0060193 | amyotrophic lateral sclerosis type 1 | The most common type of familial ALS caused_by mutation located_in SOD1 gene located in chromosome 21. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis] | amyotrophic lateral sclerosis 1 EXACT [OMIM:105400] |
DOID:0060194 | amyotrophic lateral sclerosis type 2 | A type of ALS with juvenile onset caused_by mutation located_in alsin gene located_in chromosome 2. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/205100] | amyotrophic lateral sclerosis 2, juvenile EXACT [OMIM:205100] |
DOID:0060195 | amyotrophic lateral sclerosis type 3 | A type of ALS with loci associated with the disease located_in chromosome 18. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/606640] | amyotrophic lateral sclerosis 3 EXACT [OMIM:606640] |
DOID:0060196 | amyotrophic lateral sclerosis type 4 | A type of ALS with juvenile onset caused_by mutation located_in senataxin gene (SETX) located_in chromosome 9. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/602433] | distal hereditary motor neuropathy with upper motor neuron signs EXACT [ORDO:357043] |
DOID:0060197 | amyotrophic lateral sclerosis type 5 | A type of ALS with juvenile onset caused_by homozygous or compound heterozygous mutation in the spatacsin gene (SPG11) on chromosome 15q21. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/602099] | amyotrophic lateral sclerosis 5 EXACT [OMIM:602099] |
DOID:0060198 | amyotrophic lateral sclerosis type 6 | A type of ALS caused_by mutation located_in FUS gene located_in chromosome 16. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/608030] | autosomal recessive amyotrophic lateral sclerosis 6 EXACT [OMIM:608030] |
DOID:0060199 | amyotrophic lateral sclerosis type 7 | A type of ALS with loci associated with the disease located_in chromosome 20. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/608031] | amyotrophic lateral sclerosis 7 EXACT [OMIM:608031] |
DOID:0060200 | amyotrophic lateral sclerosis type 9 | A type of ALS caused_by mutation located_in ANG gene located_in chromosome 14. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/611895] | amyotrophic lateral sclerosis 9 EXACT [OMIM:611895] |
DOID:0060201 | amyotrophic lateral sclerosis type 10 | A type of ALS caused_by mutation located_in TARDBP gene located_in chromosome 1. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/612069] | TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions EXACT [OMIM:612069] |
DOID:0060202 | amyotrophic lateral sclerosis type 11 | A type of ALS caused_by mutation located_in FIG4 gene located_in chromosome 6. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/612577] | amyotrophic lateral sclerosis 11 EXACT [OMIM:612577] |
DOID:0060203 | amyotrophic lateral sclerosis type 12 | A type of ALS caused_by mutation located_in OPTN gene located_in chromosome 10. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/613435] | amyotrophic lateral sclerosis 12 EXACT [OMIM:613435] |
DOID:0060204 | amyotrophic lateral sclerosis type 13 | A type of ALS were intermediate-length polyglutamine repeat expansions in the ATXN2 gene located_in chromosome 12 contribute to susceptibility. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/183090] | amyotrophic lateral sclerosis 13 EXACT [OMIM:183090] |
DOID:0060205 | amyotrophic lateral sclerosis type 14 | A type of ALS caused_by mutation located_in VCP gene located_in chromosome 9. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/613954] | amyotrophic lateral sclerosis, with or without frontotemporal dementia EXACT [OMIM:613954] |
DOID:0060206 | amyotrophic lateral sclerosis type 15 | A type of ALS caused_by mutation located_in UBQLN 2 gene located_in X chromosome. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/300857] | amyotrophic lateral sclerosis 15, with or without frontotemporal dementia EXACT [OMIM:300857] |
DOID:0060207 | amyotrophic lateral sclerosis type 16 | A type of ALS with juvenile onset caused_by mutation located_in SIGMAR1 gene (SETX) located_in chromosome 9. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/614373] | amyotrophic lateral sclerosis 16, juvenile RELATED [OMIM:614373] |
DOID:0060208 | amyotrophic lateral sclerosis type 17 | A type of ALS caused_by mutation located_in CHMP2B gene located_in chromosome 3. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/614696] | CHMP2B-related amyotrophic lateral sclerosis EXACT [OMIM:614696] |
DOID:0060209 | amyotrophic lateral sclerosis type 18 | A type of ALS caused_by mutation located_in PFN1 gene located_in chromosome 17. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/614808] | amyotrophic lateral sclerosis 18 EXACT [OMIM:614808] |
DOID:0060210 | amyotrophic lateral sclerosis type 19 | A type of ALS caused_by mutation located_in ERBB4 gene located_in chromosome 2. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/615515] | amyotrophic lateral sclerosis 19 EXACT [OMIM:615515] |
DOID:0060211 | amyotrophic lateral sclerosis type 20 | A type of ALS with juvenile onset caused_by mutation located_in HNRNPA1 gene located_in chromosome 12. [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/615426] | amyotrophic lateral sclerosis 20 EXACT [OMIM:615426] |
DOID:0060212 | amyotrophic lateral sclerosis type 21 | A type of ALS with juvenile onset caused_by mutation located_in MATR3 gene located_in chromosome 5. [url:http\://omim.org/entry/606070] | ALS21 EXACT [OMIM:606070] |
DOID:0060213 | FTDALS1 | A type of ALS caused_by mutation located_in C9ORF72 gene located_in chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. [url:http\://omim.org/entry/105550] | FTDMND EXACT [OMIM:105550] |
DOID:0060214 | FTDALS2 | A type of ALS caused_by mutation located_in CHCHD10 gene located_in chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. [url:http\://omim.org/entry/615911, url:http\://www.ncbi.nlm.nih.gov/pubmed/24934289] | frontotemporal dementia and/or amyotrophic lateral sclerosis 2 EXACT [OMIM:615911] |
DOID:0060215 | Balo concentric sclerosis | A demyelinating disease characterized by the fact that the demyelinated tissues form concentric layers. [url:http\://en.wikipedia.org/wiki/Balo_concentric_sclerosis] | Balo's concentric sclerosis EXACT [] |
DOID:0060216 | Cogan syndrome | An eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue. [url:http\://en.wikipedia.org/wiki/Cogan_syndrome] | diffuse interstitual keratitis EXACT [ICD10CM:H16.32] |
DOID:0060217 | Cogan-Reese syndrome | An eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma. [url:http\://en.wikipedia.org/wiki/Iridocorneal_endothelial_syndrome, url:http\://rarediseases.info.nih.gov/gard/6125/cogan-reese-syndrome/resources/1] | null |
DOID:0060218 | CREST syndrome | A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia. [url:http\://en.wikipedia.org/wiki/CREST_syndrome] | null |
DOID:0060219 | lymph node adenoid cystic carcinoma | A lymph node cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes. [url:http\://www.cigna.com/healthwellness/hw/medical-topics/adenoid-cystic-carcinoma-nord1109, url:http\://www.oralcancerfoundation.org/facts/rare/ac/] | lymph node adenoid cystic cancer EXACT [] |
DOID:0060220 | physical urticaria | An urticaria induced by external physical influences. [ISBN:1416029990, url:http\://en.wikipedia.org/wiki/Physical_urticaria, url:http\://www.dermnetnz.org/reactions/urticaria.html] | null |
DOID:0060221 | Maffucci syndrome | A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas. [url:http\://en.wikipedia.org/wiki/Maffucci_syndrome, url:http\://ghr.nlm.nih.gov/condition/maffucci-syndrome] | null |
DOID:0060222 | Scheie syndrome | A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan. [url:http\://en.wikipedia.org/wiki/Scheie_syndrome] | mucopolysaccharidosis type V EXACT [] |
DOID:0060223 | agraphia | An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell. [url:http\://en.wikipedia.org/wiki/Agraphia, url:http\://www.ncbi.nlm.nih.gov/pubmed/21507544] | null |
DOID:0060224 | 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. [url:http\://en.wikipedia.org/wiki/Atrial_fibrillation, url:http\://www.mayoclinic.org/diseases-conditions/atrial-fibrillation/basics/definition/con-20027014, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/af] | A-fib EXACT [] |
DOID:0060225 | 3MC syndrome | A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes. [url:http\://www.ncbi.nlm.nih.gov/pubmed/16096999] | oculopalatoskeletal syndrome EXACT [] |
DOID:0060226 | acrofrontofacionasal dysostosis | A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure. [url:http\://en.wikipedia.org/wiki/Acrofrontofacionasal_dysostosis, url:http\://www.ncbi.nlm.nih.gov/pubmed/2986457] | Richieri-Costa-Colletto syndrome EXACT [] |
DOID:0060227 | Adams-Oliver syndrome | A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs. [PMID:18000904, url:http\://en.wikipedia.org/wiki/Adams%E2%80%93Oliver_syndrome, url:http\://ghr.nlm.nih.gov/condition/adams-oliver-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/584/viewAbstract] | Adams Oliver syndrome EXACT [] |
DOID:0060228 | intracranial berry aneurysm | An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm. [url:http\://en.wikipedia.org/wiki/Intracranial_aneurysm#Saccular_aneurysms, url:http\://radiopaedia.org/articles/saccular-cerebral-aneurysm, url:http\://www.hopkinsmedicine.org/healthlibrary/conditions/cardiovascular_diseases/cerebral_aneurysm_85\,P08772/] | saccular cerebral aneurysm EXACT [] |
DOID:0060229 | Baraitser-Winter syndrome | A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present. [url:http\://ghr.nlm.nih.gov/condition/baraitser-winter-syndrome] | null |
DOID:0060230 | basal ganglia calcification | A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills. [url:http\://en.wikipedia.org/wiki/Fahr%27s_syndrome, url:http\://ghr.nlm.nih.gov/condition/familial-idiopathic-basal-ganglia-calcification, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/597/viewAbstract] | idiopathic basal ganglia calcification EXACT [] |
DOID:0060231 | Bruck syndrome | A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta. [url:http\://en.wikipedia.org/wiki/Bruck_syndrome, url:http\://www.ncbi.nlm.nih.gov/pubmed/9129737] | osteogenesis imperfecta with congenital joint contractures EXACT [] |
DOID:0060232 | branchiootic syndrome | A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome. [url:http\://www.ncbi.nlm.nih.gov/pubmed/22901925, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/881/viewAbstract] | branchiootic dysplasia EXACT [] |
DOID:0060233 | 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. [url:http\://en.wikipedia.org/wiki/Cardiofaciocutaneous_syndrome, url:http\://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/877/viewAbstract] | CFC syndrome EXACT [] |
DOID:0060234 | Carpenter syndrome | An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly. [url:http\://en.wikipedia.org/wiki/Carpenter_syndrome, url:http\://ghr.nlm.nih.gov/condition/carpenter-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/612/viewAbstract] | acrocephalopolysyndactyly type II EXACT [] |
DOID:0060235 | carnitine palmitoyltransferase II deficiency | A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria. [url:http\://en.wikipedia.org/wiki/Carnitine_palmitoyltransferase_II_deficiency, url:http\://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-ii-deficiency] | lethal neonatal carnitine palmitoyltransferase II deficiency EXACT [] |
DOID:0060236 | xanthinuria | A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones. [url:http\://en.wikipedia.org/wiki/Xanthinuria, url:http\://www.ncbi.nlm.nih.gov/pubmed/4369449] | xanthine oxidase deficiency EXACT [] |
DOID:0060237 | Warburg micro syndrome | An autosomal recessive disease characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism. [url:http\://en.wikipedia.org/wiki/Micro_syndrome, url:http\://www.ncbi.nlm.nih.gov/pubmed/22768674] | Warburg-Sjo-Fledelius syndrome EXACT [] |
DOID:0060238 | Van Maldergem syndrome | A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation. [url:http\://www.ncbi.nlm.nih.gov/pubmed/1633641] | cerebro-facio-articular syndrome EXACT [] |
DOID:0060239 | 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. [url:http\://en.wikipedia.org/wiki/Van_der_Woude_syndrome, url:http\://ghr.nlm.nih.gov/condition/van-der-woude-syndrome] | lip-pit syndrome RELATED [] |
DOID:0060240 | UV-sensitive syndrome | An autosomal recessive disease characterized by photosensitivity and liver spots (solar lentigines). [url:http\://en.wikipedia.org/wiki/UV-sensitive_syndrome, url:http\://ghr.nlm.nih.gov/condition/uv-sensitive-syndrome] | null |
DOID:0060241 | 3-M syndrome | An autosomal recessive disease characterized by dwarfism, facial dysmorphia and skeletal abnormalities. [url:http\://en.wikipedia.org/wiki/3-M_syndrome, url:http\://ghr.nlm.nih.gov/condition/3-m-syndrome] | Yakut short stature syndrome EXACT [] |
DOID:0060242 | synpolydactyly | A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOX D13 gene. [url:http\://en.wikipedia.org/wiki/Synpolydactyly, url:http\://www.ncbi.nlm.nih.gov/pubmed/18177473, url:http\://www.ncbi.nlm.nih.gov/pubmed/8817328] | syndactyly type 2 EXACT [] |
DOID:0060243 | stuttering | An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech. [url:http\://en.wikipedia.org/wiki/Stuttering, url:http\://www.asha.org/public/speech/disorders/stuttering.htm, url:http\://www.merriam-webster.com/dictionary/stutter] | stammering EXACT [] |
DOID:0060244 | specific language impairment | A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors. [url:http\://en.wikipedia.org/wiki/Specific_language_impairment, url:http\://www.ncbi.nlm.nih.gov/pubmed/19646677] | null |
DOID:0060245 | Mast syndrome | A hereditary spastic paraplegia associated with dementia. [url:http\://ghr.nlm.nih.gov/gene/SPG21, url:http\://www.ncbi.nlm.nih.gov/pubmed/6024251] | autosomal recessive spastic paraplegia 21 EXACT [] |
DOID:0060246 | MASA syndrome | A syndrome characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range. [url:http\://en.wikipedia.org/wiki/MASA_syndrome, url:http\://ghr.nlm.nih.gov/condition/l1-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1097/viewAbstract] | X-linked corpus callosum agenesis EXACT [] |
DOID:0060247 | 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. [url:http\://www.ncbi.nlm.nih.gov/pubmed/1216821] | null |
DOID:0060248 | Simpson-Golabi-Behmel syndrome | An X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities. [url:http\://en.wikipedia.org/wiki/Simpson%E2%80%93Golabi%E2%80%93Behmel_syndrome, url:http\://ghr.nlm.nih.gov/condition/simpson-golabi-behmel-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/982/viewAbstract] | X-linked dysplasia gigantism syndrome EXACT [] |
DOID:0060249 | scoliosis | A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine. [url:http\://en.wikipedia.org/wiki/Scoliosis, url:http\://ghr.nlm.nih.gov/glossary=scoliosis, url:http\://www.mayoclinic.org/diseases-conditions/scoliosis/basics/definition/con-20030140] | null |
DOID:0060250 | idiopathic scoliosis | A scoliosis with no known cause. [url:http\://en.wikipedia.org/wiki/Scoliosis] | null |
DOID:0060251 | 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. [url:http\://en.wikipedia.org/wiki/Sclerostin#Clinical_significance, url:http\://www.ncbi.nlm.nih.gov/pubmed/11836356] | null |
DOID:0060252 | sclerocornea | A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea. [url:http\://en.wikipedia.org/wiki/Sclerocornea, url:http\://www.ncbi.nlm.nih.gov/pubmed/3994576] | isolated congenital sclerocornea EXACT [] |
DOID:0060253 | scapuloperoneal myopathy | A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm. [url:http\://www.ncbi.nlm.nih.gov/pubmed/28179901] | null |
DOID:0060254 | Robinow syndrome | A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. [url:http\://en.wikipedia.org/wiki/Robinow_syndrome, url:http\://ghr.nlm.nih.gov/condition/robinow-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/696/viewAbstract] | Robinow dwarfism EXACT [] |
DOID:0060255 | rippling muscle disease | A muscle tissue disease characterized by muscles unusually sensitive to movement or pressure; the proximal muscles are most affected, especially the thighs. [url:http\://ghr.nlm.nih.gov/condition/rippling-muscle-disease] | null |
DOID:0060256 | Dowling-Degos disease | A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases. [url:http\://en.wikipedia.org/wiki/Reticular_pigmented_anomaly_of_the_flexures, url:http\://ghr.nlm.nih.gov/condition/dowling-degos-disease] | reticular pigment anomaly of flexures EXACT [] |
DOID:0060257 | dyschromatosis symmetrica hereditaria | A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities. [url:http\://en.wikipedia.org/wiki/Dyschromatosis_symmetrica_hereditaria, url:http\://www.alibris.com/Andrews-Diseases-of-the-Skin-Clinical-Dermatology-Expert-Consult-Online-and-Print-William-D-James-Col/book/28312193?qsort=c&matches=15, url:http\://www.ncbi.nlm.nih.gov/pubmed/22974014] | reticulate acropigmentation of Dohi EXACT [] |
DOID:0060258 | reticulate acropigmentation of Kitamura | A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present. [url:http\://www.ncbi.nlm.nih.gov/pubmed/22808308] | RAPK EXACT [] |
DOID:0060259 | renal-hepatic-pancreatic dysplasia | A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth. [url:http\://en.wikipedia.org/wiki/Renal-hepatic-pancreatic_dysplasia, url:http\://www.ncbi.nlm.nih.gov/pubmed/17605805] | Ivemark's syndrome EXACT [] |
DOID:0060260 | ptosis | An eye disease characterized by the drooping or falling of the upper or lower eyelid. [url:http\://en.wikipedia.org/wiki/Ptosis_%28eyelid%29] | drooping eyelid EXACT [] |
DOID:0060261 | congenital ptosis | A ptosis characterized by eyelid drop present at birth. [url:http\://en.wikipedia.org/wiki/Ptosis_%28eyelid%29, url:http\://eyewiki.aao.org/Ptosis\,_Congenital] | null |
DOID:0060262 | gallbladder disease | A gastrointestinal system disease that is located_in the gallbladder. [url:http\://en.wikipedia.org/wiki/Gallbladder_disease, url:http\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C34631&ns=NCI_Thesaurus&key=n1027527578&b=1&n=null] | null |
DOID:0060263 | porencephaly | null | null |
DOID:0060264 | pontocerebellar hypoplasia | null | PCH EXACT [] |
DOID:0060265 | pontocerebellar hypoplasia type 1A | null | null |
DOID:0060266 | pontocerebellar hypoplasia type 1B | null | null |
DOID:0060267 | pontocerebellar hypoplasia type 2A | null | null |
DOID:0060268 | pontocerebellar hypoplasia type 2B | null | null |
DOID:0060269 | pontocerebellar hypoplasia type 2C | null | null |
DOID:0060270 | pontocerebellar hypoplasia type 2D | null | null |
DOID:0060271 | pontocerebellar hypoplasia type 2E | null | null |
DOID:0060272 | pontocerebellar hypoplasia type 3 | null | null |
DOID:0060273 | pontocerebellar hypoplasia type 4 | null | null |
DOID:0060274 | pontocerebellar hypoplasia type 5 | null | null |