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Achondrogenesis type 2

^ http://www.orpha.net/ORDO/Orphanet_93296


Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), 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.

Synonyms: Achondrogenesis, Langer-Saldino type

Term info

database cross reference
  • MeSH:C536017 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:Q77.0 (NTBT (narrower term maps to a broader term))
  • OMIM:200610 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:Q77.0 (Attributed)
  • UMLS:C0220685 (E (exact mapping (the terms and the concepts are equivalent)))
hasDbXref

UMLS:C0220685, MeSH:C536017, ICD-10:Q77.0, OMIM:200610

notation

ORPHA:93296