achondrogenesis type II
http://purl.obolibrary.org/obo/MONDO_0008702
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 ]
Term info
- MESH:C536017 (Orphanet:93296/e)
- Orphanet:93296 (OMIM:200610)
- OMIM:200610 (Orphanet:93296/e)
- DOID:0080056 (MONDO:equivalentTo)
- Orphanet:93297 (OMIM:200610)
- GARD:0008713 (MONDO:equivalentTo)
ordo_clinical_subtype
https://github.com/monarch-initiative/mondo/issues/4521, https://github.com/monarch-initiative/mondo/issues/4948
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.
http://identifiers.org/mesh/C536017, https://omim.org/entry/200610, http://purl.obolibrary.org/obo/Orphanet_93296, http://purl.obolibrary.org/obo/DOID_0080056
achondrogenesis, Langer-Saldino type, achondrogenesis type II, achondrogenesis, type II or hypochondrogenesis
ACG2, achondrogenesis, type 2, achondrogenesis, type IB, hypochondrogenesis, chondrogenesis imperfecta, achondrogenesis type 2, achondrogenesis, type II, achondrogenesis, type IB, formerly
MONDO:0008702