You are using an outdated browser. Please upgrade your browser to improve your experience.

achondroplasia

Disease Summary
Associated Targets (3)
Tclin

2

Tbio

1


Explore Associated Targets
Mondo Description Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.
Uniprot Description A frequent form of short-limb dwarfism. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. ACH is an autosomal dominant disease.
Disease Ontology Description An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone.
Mondo Term and Equivalent IDs
MONDO:0007037:  achondroplasia
COHD:4311402: 
GARD:0008173: 
ICD10:Q77.4: 
MESH:D000130: 
NCIT:C34345: 
Orphanet:15: 
SCTID:86268005: 
UMLS:C0001080: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)