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achondroplasia

Disease Summary
Associated Targets (3)
Tclin

2

Tbio

1


GARD Rare
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: