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autosomal recessive non-syndromic intellectual disability

^ http://purl.obolibrary.org/obo/MONDO_0019502

Autosomal recessive form of non-syndromic intellectual disability. [ MONDO:patterns/autosomal_recessive ]

Term info

database cross reference
  • UMLS:CN206293 (MONDO:equivalentTo)
  • DOID:0060308 (MONDO:equivalentTo)
  • Orphanet:88616 (MONDO:equivalentTo)
  • OMIMPS:249500 (MONDO:equivalentTo)
A synonym that is historic and discouraged
autosomal recessive mental retardation [ DOID:0060308 ]

A synonym that is historic and discouraged
autosomal recessive non-syndromic mental retardation [ DOID:0060308 ]

A synonym that is historic and discouraged
mental retardation, autosomal recessive [ OMIMPS:249500 ]

IAO 0000233

https://github.com/monarch-initiative/monarch-disease-ontology/issues/407, https://github.com/monarch-initiative/mondo/issues/4985

comment

Editor note: misclassified in Orphanet: https://github.com/monarch-initiative/monarch-disease-ontology/issues/407

definition

Autosomal recessive form of non-syndromic intellectual disability.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_88616, http://linkedlifedata.com/resource/umls/id/CN206293, http://purl.obolibrary.org/obo/DOID_0060308, https://omim.org/phenotypicSeries/PS249500

has exact synonym

mental retardation, autosomal recessive, autosomal recessive non-syndromic intellectual disability, autosomal recessive mental retardation, NS-ARID, non-syndromic intellectual disability, autosomal recessive, autosomal recessive non-syndromic mental retardation, autosomal recessive intellectual disability, intellectual disability, autosomal recessive, AR-NSID

id

MONDO:0019502