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achondrogenesis type IA

^ http://purl.obolibrary.org/obo/MONDO_0008701

Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage. [ Orphanet:93299 ]

Term info

database cross reference
  • Orphanet:93299 (OMIM:200600)
  • ICD9:756.9 (MONDO:relatedTo)
  • OMIM:200600 (Orphanet:93299/e)
  • MESH:C536015 (Orphanet:93299/e)
  • DOID:0080054 (MONDO:equivalentTo)
  • GARD:0000459 (MONDO:equivalentTo)
  • SCTID:42725006 (MONDO:equivalentTo)
Subsets

ordo_clinical_subtype

abbreviation
ACG1A [ MONDO:Lexical OMIM:200600 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4948

definition

Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.

exactMatch

http://purl.obolibrary.org/obo/DOID_0080054, https://omim.org/entry/200600, http://purl.obolibrary.org/obo/Orphanet_93299, http://identifiers.org/snomedct/42725006, http://identifiers.org/mesh/C536015

has exact synonym

achondrogenesis Houston-Harris type, achondrogenesis, Houston-Harris type

has related synonym

Houston-Harris achondrogenesis, ACG1A, achondrogenesis, type IA, achondrogenesis type 1A, achondrogenesis, type 1A

id

MONDO:0008701