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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
This disease has been annotated by GARD as a rare disease.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
COHD:4311402
DOID:4480
GARD:0008173
ICD10:Q77.4
MESH:D000130
NCIT:C34345
OMIM:100800
Orphanet:15
SCTID:86268005
UMLS:C0001080
MONDO:0007037
High level summary of knowledge for a disease, including descriptions and datasource references.