hypochondroplasia
osteochondrodysplasia that has material basis in mutation in the FGFR3 gene which affects ossification of cartilage and results in short limb dwarfism
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hypochondroplasia
Summary
hypochondroplasia is a rare disease[1]. hypochondroplasia has Wikipedia articles in 9 language editions, a strong signal of global cultural recognition.[2]
Key Facts
- hypochondroplasia's instance of is recorded as rare disease[3].
- hypochondroplasia's instance of is recorded as class of disease[4].
- hypochondroplasia is a type of osteochondrodysplasia[5].
- hypochondroplasia is a type of genetic disease[6].
- hypochondroplasia is a type of autosomal dominant disease[7].
- hypochondroplasia is a type of disease[8].
- hypochondroplasia's NCI Thesaurus ID is recorded as C118697[9].
- hypochondroplasia's health specialty is recorded as medical genetics[10].
- hypochondroplasia's genetic association is recorded as FGFR3[11].
- hypochondroplasia's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0080041[12].
- hypochondroplasia's exact match is recorded as http://identifiers.org/doid/DOID:0080041[13].
- hypochondroplasia's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_429[14].
- hypochondroplasia's on focus list of Wikimedia project is recorded as WikiProject Medicine[15].
Why It Matters
hypochondroplasia has Wikipedia articles in 9 language editions, a strong signal of global cultural recognition.[2]