autosomal dominant non-syndromic intellectual disability
Go to external page http://purl.obolibrary.org/obo/MONDO_0015802
Autosomal dominant form of non-syndromic intellectual disability. [ MONDO:patterns/autosomal_dominant ]
Synonyms: autosomal dominant non-syndromic mental retardation non-syndromic intellectual disability, autosomal dominant autosomal dominant non-syndromic intellectual disability
Term information
- DOID:0060307 (MONDO:equivalentTo)
- UMLS:C5680502 (MONDO:equivalentTo)
- MEDGEN:1826082 (MONDO:equivalentTo)
- GARD:12107 (MONDO:GARD)
- Orphanet:178469 (MONDO:equivalentTo)
gard_rare, otar, ordo_subtype_of_a_disorder, rare
Editor note: wrongly classified in ORDO, see https://github.com/monarch-initiative/monarch-disease-ontology/issues/407 - check also Koolen-de vries
http://linkedlifedata.com/resource/umls/id/C5680502
http://purl.obolibrary.org/obo/DOID_0060307
http://www.orpha.net/ORDO/Orphanet_178469
http://identifiers.org/medgen/1826082
https://rarediseases.info.nih.gov/diseases/12107/autosomal-dominant-non-syndromic-intellectual-disability