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DOID:14773 - cartilage-hair hypoplasia
Disease Ontology 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.
Synonyms: CHH, McKusick type metaphyseal chondrodysplasia, Metaphyseal chondrodysplasia, McKusick type,
Xenbase Genes :
MONDO:0009595 - cartilage-hair hypoplasia |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee