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achondrogenesis

^ http://purl.obolibrary.org/obo/MONDO_0019648

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. [ Orphanet:932 ]

Term info

database cross reference
  • MESH:C579878 (MONDO:equivalentTo)
  • GARD:0002882 (MONDO:equivalentTo)
  • ICD10CM:Q77.0 (Orphanet:932/specific)
  • MedDRA:10066122 (Orphanet:932/e)
  • NCIT:C84527 (MONDO:equivalentTo)
  • UMLS:C0001079 (Orphanet:932/e)
  • SCTID:2391001 (MONDO:equivalentTo)
  • DOID:0080043 (MONDO:equivalentTo)
  • Orphanet:932 (MONDO:equivalentTo)
  • OMIMPS:200600 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

closeMatch

http://identifiers.org/meddra/10066122

definition

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.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0001079, http://purl.obolibrary.org/obo/DOID_0080043, http://identifiers.org/snomedct/2391001, http://purl.obolibrary.org/obo/NCIT_C84527, http://purl.bioontology.org/ontology/ICD10CM/Q77.0, http://identifiers.org/mesh/C579878, https://omim.org/phenotypicSeries/PS200600, http://purl.obolibrary.org/obo/Orphanet_932

id

MONDO:0019648

seeAlso

https://rarediseases.info.nih.gov/diseases/2882/achondrogenesis