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hypochondroplasia

Disease Summary
Associated Targets (1)
Tclin

1


Explore Associated Targets
Mondo Description Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.
Uniprot Description Autosomal dominant disease and is characterized by disproportionate short stature. It resembles achondroplasia, but with a less severe phenotype.
Disease Ontology Description An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.
Mondo Term and Equivalent IDs
MONDO:0007793:  hypochondroplasia
GARD:0006724: 
MESH:C562937: 
NCIT:C118697: 
Orphanet:429: 
SCTID:205468002: 
UMLS:C0410529: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)