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 draws 9 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #129 of 308).[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's subclass of is recorded as osteosclerosis[6].
- craniometaphyseal dysplasia's subclass of is recorded as genetic disease[7].
- craniometaphyseal dysplasia's MeSH descriptor ID is recorded as C565145[8].
- craniometaphyseal dysplasia's OMIM ID is recorded as 122860[9].
- craniometaphyseal dysplasia's OMIM ID is recorded as 218400[10].
- craniometaphyseal dysplasia's OMIM ID is recorded as 614099[11].
- craniometaphyseal dysplasia's OMIM ID is recorded as 614378[12].
- craniometaphyseal dysplasia's OMIM ID is recorded as 123000[13].
- craniometaphyseal dysplasia's KEGG ID is recorded as H00491[14].
- craniometaphyseal dysplasia's Disease Ontology ID is recorded as DOID:0080033[15].
- craniometaphyseal dysplasia's Orphanet ID is recorded as 1522[16].
- craniometaphyseal dysplasia's health specialty is recorded as orthopedics[17].
- craniometaphyseal dysplasia's genetic association is recorded as ANKH[18].
- craniometaphyseal dysplasia's genetic association is recorded as SOST[19].
- craniometaphyseal dysplasia's genetic association is recorded as GJA1[20].
- craniometaphyseal dysplasia's genetic association is recorded as WDR19[21].
- craniometaphyseal dysplasia's genetic association is recorded as IFT43[22].
- craniometaphyseal dysplasia's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0080033[23].
- craniometaphyseal dysplasia's exact match is recorded as http://identifiers.org/doid/DOID:0080033[24].
- craniometaphyseal dysplasia's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1522[25].
- craniometaphyseal dysplasia's UMLS CUI is recorded as C1852502[26].
- craniometaphyseal dysplasia's on focus list of Wikimedia project is recorded as WikiProject Medicine[27].
Why It Matters
craniometaphyseal dysplasia draws 9 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #129 of 308).[2] It is known by 6 alternative names across languages and contexts.[28]