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craniometaphyseal dysplasia

Disease Summary
Associated Targets (3)
Tbio

2

Tclin

1


Mondo Description 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.
Disease Ontology Description An osteosclerosis that has_material_basis_in mutations in the ANKH gene which results_in progressive thickening located_in skull and abnormally shaped ends of long bones in the limbs.
Mondo Term and Equivalent IDs
MONDO:0015465:  craniometaphyseal dysplasia
OMIMPS:123000: 
Orphanet:1522: 
SCTID:36601008: