McKusick type metaphyseal dysplasia
metaphyseal dysplasia that results in short-limbed dwarfism and fine sparse hair
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McKusick type metaphyseal dysplasia
Summary
McKusick type metaphyseal dysplasia is a developmental defect during embryogenesis[1]. It ranks in the top 8% of developmental_defect_during_embryogenesis entities by monthly Wikipedia readership (321 views/month).[2]
Key Facts
- McKusick type metaphyseal dysplasia's instance of is recorded as developmental defect during embryogenesis[3].
- McKusick type metaphyseal dysplasia's instance of is recorded as rare disease[4].
- McKusick type metaphyseal dysplasia's instance of is recorded as class of disease[5].
- Victor A. McKusick is named after McKusick type metaphyseal dysplasia[6].
- McKusick type metaphyseal dysplasia's subclass of is recorded as autosomal recessive disease[7].
- McKusick type metaphyseal dysplasia's subclass of is recorded as multiple metaphyseal dysplasia[8].
- McKusick type metaphyseal dysplasia's subclass of is recorded as Immuno-osseous dysplasia[9].
- McKusick type metaphyseal dysplasia's subclass of is recorded as metaphyseal chondrodysplasia[10].
- McKusick type metaphyseal dysplasia's subclass of is recorded as ectodermal dysplasia[11].
- McKusick type metaphyseal dysplasia's MeSH descriptor ID is recorded as C535916[12].
- McKusick type metaphyseal dysplasia's OMIM ID is recorded as 250250[13].
- McKusick type metaphyseal dysplasia's Freebase ID is recorded as /m/08ptz5[14].
- McKusick type metaphyseal dysplasia's KEGG ID is recorded as H01966[15].
- McKusick type metaphyseal dysplasia's GeneReviews ID is recorded as NBK84550[16].
- McKusick type metaphyseal dysplasia's NL CR AUT ID is recorded as ph1079882[17].
- McKusick type metaphyseal dysplasia's Disease Ontology ID is recorded as DOID:14773[18].
- McKusick type metaphyseal dysplasia's has effect is recorded as dwarfism[19].
- McKusick type metaphyseal dysplasia's Orphanet ID is recorded as 175[20].
- McKusick type metaphyseal dysplasia's NCI Thesaurus ID is recorded as C61245[21].
- McKusick type metaphyseal dysplasia's genetic association is recorded as RMRP[22].
- McKusick type metaphyseal dysplasia's YSO ID is recorded as 10098[23].
- McKusick type metaphyseal dysplasia's exact match is recorded as http://purl.obolibrary.org/obo/DOID_14773[24].
- McKusick type metaphyseal dysplasia's exact match is recorded as http://identifiers.org/doid/DOID:14773[25].
- McKusick type metaphyseal dysplasia's UMLS CUI is recorded as C0220748[26].
- McKusick type metaphyseal dysplasia's ICD-10-CM is recorded as Q78.8[27].
Why It Matters
McKusick type metaphyseal dysplasia ranks in the top 8% of developmental_defect_during_embryogenesis entities by monthly Wikipedia readership (321 views/month).[2] It has Wikipedia articles in 9 language editions, a strong signal of global cultural recognition.[28] It is known by 19 alternative names across languages and contexts.[29]