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hypochondroplasia
Summary
- Definition
- An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.
- Super Class
- autosomal dominant disease osteochondrodysplasia
External Links
- Disease Ontology
- DOID:0080041
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
