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 ]

This is just here as a test because I lose it

Term information

database cross reference
  • ICD9:334.8 (i2s)
  • OMIMPS:604391 (MONDO:equivalentTo)
  • SCTID:700058006 (MONDO:equivalentTo)
  • DC:0000668 (MONDO:equivalentTo)
  • MESH:C565779 (MONDO:equivalentTo)
  • ICD10:G11.3 (Orphanet:251347)
  • NCIT:C132224 (MONDO:equivalentTo)
  • Orphanet:251347 (OMIM:604391)
  • UMLS:CN239583 (MONDO:equivalentTo)
Subsets

ordo_disease, prototype_pattern

abbreviation
ATLD [ Orphanet:251347 ]

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

http://www.orpha.net/ORDO/Orphanet_251347

http://identifiers.org/mesh/C565779

http://purl.obolibrary.org/obo/NCIT_C132224

http://identifiers.org/snomedct/700058006

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

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml