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autosomal recessive non-syndromic intellectual disability

Go to external page http://purl.obolibrary.org/obo/MONDO_0019502

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

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

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:88616 (MONDO:equivalentTo)
  • UMLS:C5680181 (MONDO:equivalentTo)
  • DOID:0060308 (MONDO:equivalentTo)
  • GARD:18643 (MONDO:GARD)
  • OMIMPS:249500 (https://orcid.org/0000-0002-6601-2165)
  • MEDGEN:1826073 (MONDO:equivalentTo)
Subsets

gard_rare, otar, rare, ordo_subtype_of_a_disorder, nord_rare

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

exactMatch

http://www.orpha.net/ORDO/Orphanet_88616

http://purl.obolibrary.org/obo/DOID_0060308

https://omim.org/phenotypicSeries/PS249500

http://linkedlifedata.com/resource/umls/id/C5680181

http://identifiers.org/medgen/1826073

id

MONDO:0019502