hypertrichotic osteochondrodysplasia Cantu type
Go to external page http://purl.obolibrary.org/obo/MONDO_0009406
Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism. [ Orphanet:1517 ]
Synonyms: hypertrichotic osteochondrodysplasia (Cantu syndrome) Cantu syndrome
Term information
- OMIM:239850 (Orphanet:1517/e)
- UMLS:C0795905 (MONDO:equivalentTo)
- Orphanet:1517 (OMIM:239850)
- MESH:C535572 (Orphanet:1517/e)
- GARD:8585 (MONDO:GARD)
- DOID:0060569 (MONDO:equivalentTo)
- SCTID:239087008 (MONDO:equivalentTo)
- MEDGEN:208647 (MONDO:equivalentTo)
ordo_disorder, gard_rare, otar, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare
http://purl.obolibrary.org/obo/DOID_0060569
http://identifiers.org/snomedct/239087008
http://www.orpha.net/ORDO/Orphanet_1517
http://identifiers.org/mesh/C535572
https://omim.org/entry/239850
http://linkedlifedata.com/resource/umls/id/C0795905
http://identifiers.org/medgen/208647
Craniofaciocardioskeletal syndrome
hypertrichotic osteochondrodysplasia
hypertrichotic osteochondrodysplasia, Cantu type
https://github.com/monarch-initiative/mondo/issues/6877
https://github.com/monarch-initiative/mondo/issues/4521