ataxia-telangiectasia-like disorder
autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia
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ataxia-telangiectasia-like disorder
Summary
ataxia-telangiectasia-like disorder is a class of disease[1].
Key Facts
- ataxia-telangiectasia-like disorder's instance of is recorded as class of disease[2].
- ataxia-telangiectasia-like disorder's subclass of is recorded as autosomal recessive cerebellar ataxia due to a DNA repair defect[3].
- ataxia-telangiectasia-like disorder's MeSH descriptor ID is recorded as C565779[4].
- ataxia-telangiectasia-like disorder's KEGG ID is recorded as H02014[5].
- ataxia-telangiectasia-like disorder's Orphanet ID is recorded as 251347[6].
- ataxia-telangiectasia-like disorder's ICD-9-CM is recorded as 334.8[7].
- ataxia-telangiectasia-like disorder's NCI Thesaurus ID is recorded as C132224[8].
- ataxia-telangiectasia-like disorder's genetic association is recorded as MRE11[9].
- ataxia-telangiectasia-like disorder's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_251347[10].
- ataxia-telangiectasia-like disorder's UMLS CUI is recorded as C1859598[11].
- ataxia-telangiectasia-like disorder's ICD-10-CM is recorded as G11.3[12].
- ataxia-telangiectasia-like disorder's Mondo ID is recorded as MONDO_0011457[13].
- ataxia-telangiectasia-like disorder's ICD-11 ID is recorded as 242329289[14].