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- Q2964438 subject Q6902466.
- Q2964438 subject Q7215483.
- Q2964438 subject Q8530418.
- Q2964438 subject Q8681618.
- Q2964438 abstract "Cartilage–hair hypoplasia (CHH), also known as McKusick type metaphyseal chondrodysplasia, is a rare genetic disorder. It is a highly pleiotropic disorder that clinically manifests by form of short-limbed dwarfism due to skeletal dysplasia, variable level of immunodeficiency and predisposition to malignancies in some cases. It was first reported in 1965 by McKusick et al. Actor Verne Troyer is affected with this form of dwarfism, as was actor Billy Barty, who was renowned for saying "The name of my condition is Cartilage Hair Syndrome Hypoplasia, but you can just call me Billy."".
- Q2964438 omim "250250".
- Q2964438 thumbnail Autorecessive.svg?width=300.
- Q2964438 wikiPageWikiLink Q1134884.
- Q2964438 wikiPageWikiLink Q1207929.
- Q2964438 wikiPageWikiLink Q1483951.
- Q2964438 wikiPageWikiLink Q18031141.
- Q2964438 wikiPageWikiLink Q186380.
- Q2964438 wikiPageWikiLink Q194101.
- Q2964438 wikiPageWikiLink Q200779.
- Q2964438 wikiPageWikiLink Q246809.
- Q2964438 wikiPageWikiLink Q2702796.
- Q2964438 wikiPageWikiLink Q271471.
- Q2964438 wikiPageWikiLink Q3251367.
- Q2964438 wikiPageWikiLink Q37748.
- Q2964438 wikiPageWikiLink Q427087.
- Q2964438 wikiPageWikiLink Q641307.
- Q2964438 wikiPageWikiLink Q6531938.
- Q2964438 wikiPageWikiLink Q6635943.
- Q2964438 wikiPageWikiLink Q6902466.
- Q2964438 wikiPageWikiLink Q716319.
- Q2964438 wikiPageWikiLink Q7215483.
- Q2964438 wikiPageWikiLink Q8530418.
- Q2964438 wikiPageWikiLink Q8681618.
- Q2964438 name "Cartilage-hair hypoplasia".
- Q2964438 omim "250250".
- Q2964438 type Disease.
- Q2964438 type Thing.
- Q2964438 type Q12136.
- Q2964438 comment "Cartilage–hair hypoplasia (CHH), also known as McKusick type metaphyseal chondrodysplasia, is a rare genetic disorder. It is a highly pleiotropic disorder that clinically manifests by form of short-limbed dwarfism due to skeletal dysplasia, variable level of immunodeficiency and predisposition to malignancies in some cases. It was first reported in 1965 by McKusick et al.".
- Q2964438 label "Cartilage–hair hypoplasia".
- Q2964438 depiction Autorecessive.svg.
- Q2964438 name "Cartilage-hair hypoplasia".