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Achondroplasia

Go to external page http://purl.obolibrary.org/obo/MONDO_0007037

Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia. [ Orphanet:15 ]

Synonyms: Achondroplasia Achondroplastic physique chondrodystrophia ACH

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:8173 (Orphanet:15)
  • ICD10CM:Q77.4 (Orphanet:15/specific)
  • SCTID:86268005 (MONDO:equivalentTo)
  • UMLS:C0001080 (Orphanet:15/e)
  • OMIM:100800 (Orphanet:15/e)
  • DOID:4480 (MONDO:equivalentTo)
  • MedDRA:10000452 (Orphanet:15/e)
  • MESH:D000130 (Orphanet:15/e)
  • NCIT:C34345 (MONDO:equivalentTo)
  • Orphanet:15 (OMIM:100800)
  • NORD:711 (MONDO:NORD)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

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

https://github.com/monarch-initiative/mondo/issues/6332

closeMatch

http://identifiers.org/meddra/10000452

exactMatch

http://www.orpha.net/ORDO/Orphanet_15

http://identifiers.org/mesh/D000130

http://linkedlifedata.com/resource/umls/id/C0001080

http://identifiers.org/snomedct/86268005

http://purl.obolibrary.org/obo/NCIT_C34345

https://omim.org/entry/100800

http://purl.bioontology.org/ontology/ICD10CM/Q77.4

http://purl.obolibrary.org/obo/DOID_4480

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0018232

has related synonym

Achondroplastic dwarfism

id

MONDO:0007037

seeAlso

https://rarediseases.info.nih.gov/diseases/8173/achondroplasia

https://search.clinicalgenome.org/kb/conditions/MONDO:0007037