Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage. [ Orphanet:93296 ]
Synonyms: achondrogenesis, Langer-Saldino type achondrogenesis type II achondrogenesis, type II or hypochondrogenesis
Term information
- Orphanet:93296 (OMIM:200610)
- Orphanet:93297 (OMIM:200610)
- DOID:0080056 (MONDO:equivalentTo)
- OMIM:200610 (Orphanet:93296/e)
- MESH:C536017 (Orphanet:93296/e)
- GARD:8713 (Orphanet:93296)
gard_rare, ordo_clinical_subtype, rare, nord_rare, orphanet_rare, clingen
https://github.com/monarch-initiative/mondo/issues/4521
https://github.com/monarch-initiative/mondo/issues/4948
http://identifiers.org/mesh/C536017
https://omim.org/entry/200610
http://www.orpha.net/ORDO/Orphanet_93296
http://purl.obolibrary.org/obo/DOID_0080056
ACG2
achondrogenesis, type 2
achondrogenesis, type IB
hypochondrogenesis
chondrogenesis imperfecta
achondrogenesis, type II
achondrogenesis type 2
achondrogenesis, type IB, formerly