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Metadata
ID DOID:0080041
Name hypochondroplasia
Definition An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.
http://en.wikipedia.org/wiki/Hypochondroplasia, http://ghr.nlm.nih.gov/condition/hypochondroplasia, http://www.ncbi.nlm.nih.gov/books/NBK1477/
Xrefs

GARD:6724

ICD10CM:Q77.4

MESH:C562937

NCI:C118697

OMIM:146000

ORDO:429

SNOMEDCT_US_2020_03_01:205468002

UMLS_CUI:C0410529

Parent Relationships

is_a osteochondrodysplasia

is_a autosomal dominant disease

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