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cataract-hypertrichosis-intellectual disability syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008894

Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait. [ Orphanet:1375 ]

Term info

database cross reference
  • MESH:C537959 (MONDO:equivalentTo)
  • UMLS:C0796282 (Orphanet:1375)
  • OMIM:211770 (Orphanet:1375/e)
  • SCTID:722379001 (MONDO:equivalentTo)
  • Orphanet:1375 (OMIM:211770)
Subsets

ordo_malformation_syndrome

A synonym that is historic and discouraged
cataract, hypertrichosis, mental retardation syndrome [ OMIM:211770 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588

definition

Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait.

exactMatch

http://identifiers.org/mesh/C537959, http://purl.obolibrary.org/obo/Orphanet_1375, http://linkedlifedata.com/resource/umls/id/C0796282, https://omim.org/entry/211770, http://identifiers.org/snomedct/722379001

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

has exact synonym

CAHMR syndrome

has related synonym

cataract, hypertrichosis, mental retardation syndrome, cataract, hypertrichosis, intellectual disability syndrome

id

MONDO:0008894

Term relations