About: ataxia telangiectasia

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a rare, neurodegenerative, autosomal recessive human disease causing severe disability

Attributes	Values
rdf:type	Item
description	Krankheit (de) maladie rare (fr) مرض يصيب الإنسان (ar) хвороба (uk) malattia genetica a trasmissione autosomica recessiva (it) homa genetika malsano (eo) a rare, neurodegenerative, autosomal recessive human disease causing severe disability (en) systémová atrofie postihující primárně centrální nervovou soustavu (cs)
exact match	wds:Q387082-6A2BD9E4-4BBD-43BC-AB91-4FE5AA92A744 wds:Q387082-BD2DEC9A-4615-403E-ACDC-FA1113538660 wds:Q387082-E7B4D85A-273F-4B8B-B0BA-12FC3C10DEAD
exact match	http://purl.obolibrary.org/obo/DOID_12704 http://identifiers.org/doid/DOID:12704 http://www.orpha.net/ORDO/Orphanet_100
health specialty	wds:Q387082-1C319EC1-A435-4025-96B1-488BF5050CB9 wds:Q387082-abce5e6c-476f-dfc0-1b13-f67a512c1d00
ICD-10	wds:q387082-3F62CB0D-57DB-463A-8E89-C98F48F80FB6
Mondo ID	wds:Q387082-0133B5AB-2E9D-4B62-B8D5-315D10CC99A6
DiseasesDB	wds:q387082-96CB528D-5A5E-4DDA-83FE-0B5927D42350
Disease Ontology ID	wds:Q387082-FD532A86-AEB0-4248-B8C7-561CE271070F
symptoms and signs	wds:Q387082-eb6f7a66-480c-0a5b-c4ed-70dc4a42840d
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0008840
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:12704
health specialty	neurology medical genetics
ICD-10	G11.3
Mondo ID	MONDO_0008840
DiseasesDB	1025
Disease Ontology ID	DOID:12704
symptoms and signs	thymic hypoplasia
rdfs:label	Ataksi-Telanjiektazi (tr) Ataksija–telangiektazija (bs) Ataxia telangiectasia (pt) Ataxia-Telangiectasia (es) Louis-Bar-Syndrom (de) Zespół ataksja-teleangiektazja (pl) โรคกล้ามเนื้อเสียการประสานงานและหลอดเลือดฝอยพอง (th) atassia-teleangectasia (it) ataxia telangiectasia (en) ataxie télangiectasie (fr) sindromo de Louis-Bar (eo) syndrom Louis-Barové (cs) Атаксия телеангиэктазия (ru) Атаксија-телеангиектатика (sr) Атаксія телеангіектазія (uk) תסמונת אטקסיה טלנגיאקטזיה (he) رنح وتوسع الشعيرات (ar) 共濟失調微血管擴張症候群 (zh) 毛細血管拡張性運動失調症 (ja)
skos:prefLabel	Ataksi-Telanjiektazi (tr) Ataksija–telangiektazija (bs) Ataxia telangiectasia (pt) Ataxia-Telangiectasia (es) Louis-Bar-Syndrom (de) Zespół ataksja-teleangiektazja (pl) โรคกล้ามเนื้อเสียการประสานงานและหลอดเลือดฝอยพอง (th) atassia-teleangectasia (it) ataxia telangiectasia (en) ataxie télangiectasie (fr) sindromo de Louis-Bar (eo) syndrom Louis-Barové (cs) Атаксия телеангиэктазия (ru) Атаксија-телеангиектатика (sr) Атаксія телеангіектазія (uk) תסמונת אטקסיה טלנגיאקטזיה (he) رنح وتوسع الشعيرات (ar) 共濟失調微血管擴張症候群 (zh) 毛細血管拡張性運動失調症 (ja)
name	Ataksi-Telanjiektazi (tr) Ataksija–telangiektazija (bs) Ataxia telangiectasia (pt) Ataxia-Telangiectasia (es) Louis-Bar-Syndrom (de) Zespół ataksja-teleangiektazja (pl) โรคกล้ามเนื้อเสียการประสานงานและหลอดเลือดฝอยพอง (th) atassia-teleangectasia (it) ataxia telangiectasia (en) ataxie télangiectasie (fr) sindromo de Louis-Bar (eo) syndrom Louis-Barové (cs) Атаксия телеангиэктазия (ru) Атаксија-телеангиектатика (sr) Атаксія телеангіектазія (uk) תסמונת אטקסיה טלנגיאקטזיה (he) رنح وتوسع الشعيرات (ar) 共濟失調微血管擴張症候群 (zh) 毛細血管拡張性運動失調症 (ja)
Freebase ID	wds:Q387082-7B1379F1-BF91-4C97-ACDD-AB6C4D71A51E
Freebase ID	/m/042cwb
instance of	wds:Q387082-DBB8BD4E-D8B5-4C2D-8954-AC958D0F4233 wds:Q387082-ED8AE763-FB92-44E4-9E9D-26FD7A8A90FF
instance of	class of disease rare disease
subclass of	wds:Q387082-067FFAE3-1E3D-4061-86D9-1C5A56DC80AD wds:Q387082-6163B492-5D07-4B67-8EEE-939C6D2FAFB4 wds:Q387082-C49E2B06-24DC-493C-BF0E-3F7EA2E52973
subclass of	autosomal recessive cerebellar ataxia disease autosomal recessive cerebellar ataxia due to a DNA repair defect

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