craniometaphyseal dysplasia
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
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craniometaphyseal dysplasia
Summary
craniometaphyseal dysplasia is a developmental defect during embryogenesis[1]. It is known by 6 alternative names across languages and contexts.[2]
Key Facts
- craniometaphyseal dysplasia's instance of is recorded as developmental defect during embryogenesis[3].
- craniometaphyseal dysplasia's instance of is recorded as rare disease[4].
- craniometaphyseal dysplasia's instance of is recorded as class of disease[5].
- craniometaphyseal dysplasia is a type of osteosclerosis[6].
- craniometaphyseal dysplasia is a type of genetic disease[7].
- craniometaphyseal dysplasia's health specialty is recorded as orthopedics[8].
- craniometaphyseal dysplasia's genetic association is recorded as ANKH[9].
- craniometaphyseal dysplasia's genetic association is recorded as SOST[10].
- craniometaphyseal dysplasia's genetic association is recorded as GJA1[11].
- craniometaphyseal dysplasia's genetic association is recorded as WDR19[12].
- craniometaphyseal dysplasia's genetic association is recorded as IFT43[13].
- craniometaphyseal dysplasia's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0080033[14].
- craniometaphyseal dysplasia's exact match is recorded as http://identifiers.org/doid/DOID:0080033[15].
- craniometaphyseal dysplasia's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1522[16].
- craniometaphyseal dysplasia's on focus list of Wikimedia project is recorded as WikiProject Medicine[17].
- craniometaphyseal dysplasia's has phenotype is recorded as osteosclerosis[18].
Why It Matters
craniometaphyseal dysplasia is known by 6 alternative names across languages and contexts.[2]