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Hypochondroplasia MeSH Supplementary Concept Data 2023


MeSH Supplementary
Hypochondroplasia
Unique ID
C562937
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C562937
Entry Term(s)
Hypochondrodysplasia
Registry Number
0
Heading Mapped to
Bone and Bones / *abnormalities
*Dwarfism
*Lordosis
*Limb Deformities, Congenital
Frequency
51
Note
A hereditary autosomal dominant disorder characterized by short-limbed dwarfism, lumbar lordosis, short and broad bones, and caudad narrowing of the interpediculate distance of the lumbar spine. It resembles ACHONDROPLASIA, but is much milder and can be distinguished clinically and radiographically. Mutations in the FGFR3 gene have been identified. OMIM: 146000
Date of Entry
2012/11/05
Revision Date
2015/08/18
Hypochondroplasia Preferred
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