JSON

Kniest dysplasia

^ http://purl.obolibrary.org/obo/MONDO_0007987

Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root). [ Orphanet:485 ]

Term info

database cross reference
  • Orphanet:485 (OMIM:156550)
  • OMIM:156550 (Orphanet:485/e)
  • MESH:C537207 (Orphanet:485/e)
  • GARD:0006841 (MONDO:equivalentTo)
  • ICD9:756.9 (MONDO:relatedTo)
  • SCTID:53974002 (MONDO:equivalentTo)
  • UMLS:C0265279 (Orphanet:485/e)
  • NCIT:C125594 (MONDO:equivalentTo)
  • DOID:0080045 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

IAO 0000233

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

definition

Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).

exactMatch

https://omim.org/entry/156550, http://linkedlifedata.com/resource/umls/id/C0265279, http://identifiers.org/snomedct/53974002, http://identifiers.org/mesh/C537207, http://purl.obolibrary.org/obo/Orphanet_485, http://purl.obolibrary.org/obo/NCIT_C125594, http://purl.obolibrary.org/obo/DOID_0080045

has exact synonym

Kniest dysplasia

id

MONDO:0007987

seeAlso

https://rarediseases.info.nih.gov/diseases/6841/kniest-dysplasia