loading...| Preferred Name |
craniometaphyseal dysplasia |
| Definitions |
Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0015465 |
| database_cross_reference |
ICD9:756.89 DOID:0080033 SCTID:36601008 OMIMPS:123000 Orphanet:1522 |
| definition |
Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones. |
| exactMatch |
http://purl.obolibrary.org/obo/DOID_0080033 http://purl.obolibrary.org/obo/Orphanet_1522 |
| id |
MONDO:0015465 |
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome |
| label |
craniometaphyseal dysplasia |
| notation |
MONDO:0015465 |
| prefLabel |
craniometaphyseal dysplasia |
| treeView | |
| subClassOf | |
| excluded subClassOf |