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craniodiaphyseal dysplasia

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Mondo Description Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.
Disease Ontology Description An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal.
Mondo Term and Equivalent IDs
MONDO:0009031:  craniodiaphyseal dysplasia
GARD:0001567: 
MESH:C562940: 
NCIT:C131429: 
Orphanet:1513: 
SCTID:205506004: 
UMLS:C0410539: