cartilage-hair hypoplasia

Summary
Synonym
  • CHH
  • McKusick type metaphyseal chondrodysplasia
  • Metaphyseal chondrodysplasia, McKusick type
Definition
An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.3.
Super Class
autosomal recessive disease ectodermal dysplasia
External Links
Disease Ontology
DOID:14773
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
847 CAT catalase
1576 CYP3A4 cytochrome P450 family 3 subfamily A member 4
9394 HS6ST1 heparan sulfate 6-O-sulfotransferase 1
10682 EBP EBP cholestenol delta-isomerase
152831 KLB klotho beta

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024