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achondrogenesis

Disease Summary
Associated Targets (6)
Tbio

4

Tchem

1

Tdark

1


Explore Associated Targets
Mondo Description Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.
Disease Ontology Description An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period.
Mondo Term and Equivalent IDs
MONDO:0019648:  achondrogenesis
GARD:0002882: 
ICD10:Q77.0: 
MESH:C579878: 
NCIT:C84527: 
OMIMPS:200600: 
Orphanet:932: 
SCTID:2391001: 
UMLS:C0001079: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)