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DO Term : hypochondroplasia [DOID:0080041] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.

synonyms:
ICD10CM:Q77.4,
146000,
GARD:6724,
MESH:C562937,
NCI:C118697,
OMIM:146000,
ORDO:429,
UMLS_CUI:C0410529,
SNOMEDCT_US_2023_03_01:205468002

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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