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Metadata
DOID DOID:0080033
Name craniometaphyseal dysplasia
Definition 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.
http://children.webmd.com/craniometaphyseal-dysplasia, http://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia, http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Craniometaphyseal%20Dysplasia
Xrefs

OMIM:122860

OMIM:123000

OMIM:218300

OMIM:218400

OMIM:614099

OMIM:614378

ORDO:1522

Subsets

DO_rare_slim

Relationships

is_a osteosclerosis

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