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achondrogenesis

Go to external page 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 ]

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0080043 (MONDO:equivalentTo)
  • Orphanet:932 (MONDO:equivalentTo)
  • OMIMPS:200600 (MONDO:equivalentTo)
  • GARD:2882 (Orphanet:932)
  • ICD10CM:Q77.0 (Orphanet:932/specific)
  • UMLS:C0001079 (Orphanet:932/e)
  • SCTID:2391001 (MONDO:equivalentTo)
  • NORD:710 (MONDO:NORD)
  • MESH:C579878 (MONDO:equivalentTo)
  • NCIT:C84527 (MONDO:equivalentTo)
  • MedDRA:10066122 (Orphanet:932/e)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare

closeMatch

http://identifiers.org/meddra/10066122

exactMatch

http://purl.obolibrary.org/obo/DOID_0080043

http://linkedlifedata.com/resource/umls/id/C0001079

http://identifiers.org/snomedct/2391001

http://purl.obolibrary.org/obo/NCIT_C84527

http://www.orpha.net/ORDO/Orphanet_932

http://purl.bioontology.org/ontology/ICD10CM/Q77.0

http://identifiers.org/mesh/C579878

https://omim.org/phenotypicSeries/PS200600

id

MONDO:0019648

seeAlso

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