OBO ID: DOID:0080033
Term Name: craniometaphyseal dysplasia Search Ontology:
Synonyms:
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. (3)
References:
Ontology: Human Disease   (DOID:0080033)
OTHER craniometaphyseal dysplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ANKH Craniometaphyseal dysplasia 123000
GJA1 Craniometaphyseal dysplasia, autosomal recessive 218400
IFT43 ?Cranioectodermal dysplasia 3 614099
SOST Craniodiaphyseal dysplasia, autosomal dominant 122860
WDR19 ?Cranioectodermal dysplasia 4 614378
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None