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ataxia-telangiectasia-like disorder

^ http://purl.obolibrary.org/obo/MONDO_0011457

An 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. [ NCIT:C132224 ]

Term info

database cross reference
  • OMIMPS:604391 (MONDO:equivalentTo)
  • MESH:C565779 (MONDO:equivalentTo)
  • ICD9:334.8 (MONDO:relatedTo)
  • SCTID:700058006 (MONDO:equivalentTo)
  • UMLS:CN239583 (MONDO:equivalentTo)
Subsets

ordo_disease, prototype_pattern

abbreviation
ATLD [ Orphanet:251347 ]

abbreviation
ATLD1 [ OMIM:604391 MONDO:Lexical ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5682

definition

An 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.

exactMatch

http://linkedlifedata.com/resource/umls/id/CN239583, https://omim.org/phenotypicSeries/PS604391, http://identifiers.org/mesh/C565779, http://identifiers.org/snomedct/700058006

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019293

has exact synonym

ATLD, ataxia-telangiectasia-like disorder type 1, ataxia - telangiectasia-like disorder

has related synonym

ataxia-telangiectasia-like disorder 1, ATLD1

id

MONDO:0011457