loading...| Preferred Name |
hypertrichotic osteochondrodysplasia Cantu type |
| Synonyms |
Cantu syndrome hypertrichotic osteochondrodysplasia (Cantu syndrome) hypertrichotic osteochondrodysplasia, Cantu type Craniofaciocardioskeletal syndrome hypertrichotic osteochondrodysplasia |
| Definitions |
Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0009406 |
| database_cross_reference |
UMLS:C0795905 SCTID:239087008 OMIM:239850 DOID:0060569 Orphanet:1517 MESH:C535572 GARD:0008585 |
| definition |
Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism. |
| disease has feature | |
| exactMatch |
http://purl.obolibrary.org/obo/DOID_0060569 http://identifiers.org/mesh/C535572 http://purl.obolibrary.org/obo/Orphanet_1517 http://linkedlifedata.com/resource/umls/id/C0795905 |
| has_exact_synonym |
Cantu syndrome hypertrichotic osteochondrodysplasia (Cantu syndrome) |
| has_related_synonym |
hypertrichotic osteochondrodysplasia, Cantu type Craniofaciocardioskeletal syndrome hypertrichotic osteochondrodysplasia |
| IAO_0000233 | |
| id |
MONDO:0009406 |
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome |
| label |
hypertrichotic osteochondrodysplasia Cantu type |
| notation |
MONDO:0009406 |
| prefLabel |
hypertrichotic osteochondrodysplasia Cantu type |
| seeAlso |
https://rarediseases.info.nih.gov/diseases/8585/cantu-syndrome |
| treeView |
http://purl.obolibrary.org/obo/MONDO_0018454 http://purl.obolibrary.org/obo/MONDO_0002254 |
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0018454 http://purl.obolibrary.org/obo/MONDO_0002254 |