JSON

cartilage-hair hypoplasia

Go to external page http://purl.obolibrary.org/obo/MONDO_0009595

Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth. [ Orphanet:175 ]

Synonyms: autosomal recessive metaphyseal chondrodysplasia cartilage-hair hypoplasia metaphyseal chondrodysplasia, McKusick type cartilage hair hypoplasia McKusick type metaphyseal chondrodysplasia

This is just here as a test because I lose it

Term information

database cross reference
  • NCIT:C61245 (MONDO:equivalentTo)
  • NORD:1414 (MONDO:NORD)
  • MESH:C535916 (Orphanet:175/e)
  • OMIM:250250 (Orphanet:175/e)
  • UMLS:C0220748 (Orphanet:175/e)
  • GARD:6996 (Orphanet:175)
  • Orphanet:175 (OMIM:250250)
  • MedDRA:10069596 (Orphanet:175/e)
  • DOID:14773 (MONDO:equivalentTo)
  • SCTID:7720002 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6751

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

closeMatch

http://identifiers.org/meddra/10069596

exactMatch

http://purl.obolibrary.org/obo/DOID_14773

https://omim.org/entry/250250

http://purl.obolibrary.org/obo/NCIT_C61245

http://identifiers.org/snomedct/7720002

http://identifiers.org/mesh/C535916

http://www.orpha.net/ORDO/Orphanet_175

http://linkedlifedata.com/resource/umls/id/C0220748

has related synonym

CHH

metaphyseal chondrodysplasia McKusick type

cartilage hair hypoplasia like syndrome

metaphyseal chondrodysplasia, Mckusick type

id

MONDO:0009595

seeAlso

https://rarediseases.info.nih.gov/diseases/6996/cartilage-hair-hypoplasia

https://search.clinicalgenome.org/kb/conditions/MONDO:0009595