JSON

hypertrichotic osteochondrodysplasia Cantu type

^ http://purl.obolibrary.org/obo/MONDO_0009406

Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism. [ Orphanet:1517 ]

Term info

database cross reference
  • OMIM:239850 (Orphanet:1517/e)
  • Orphanet:1517 (OMIM:239850)
  • GARD:0008585 (MONDO:equivalentTo)
  • SCTID:239087008 (MONDO:equivalentTo)
  • MESH:C535572 (Orphanet:1517/e)
  • DOID:0060569 (MONDO:equivalentTo)
  • UMLS:C0795905 (Orphanet:1517/e)
Subsets

gard_rare, ordo_malformation_syndrome

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

definition

Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.

exactMatch

http://identifiers.org/snomedct/239087008, http://purl.obolibrary.org/obo/DOID_0060569, http://identifiers.org/mesh/C535572, http://purl.obolibrary.org/obo/Orphanet_1517, https://omim.org/entry/239850, http://linkedlifedata.com/resource/umls/id/C0795905

has exact synonym

hypertrichotic osteochondrodysplasia (Cantu syndrome), Cantu syndrome

has related synonym

Craniofaciocardioskeletal syndrome, hypertrichotic osteochondrodysplasia, hypertrichotic osteochondrodysplasia, Cantu type

id

MONDO:0009406

seeAlso

https://rarediseases.info.nih.gov/diseases/8585/cantu-syndrome