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 ]
Synonyms: Kniest dysplasia
Term information
- UMLS:C0265279 (MONDO:equivalentTo)
- OMIM:156550 (Orphanet:485/e)
- ICD9:756.9 (MONDO:relatedTo)
- DOID:0080045 (MONDO:equivalentTo)
- NANDO:2201350 (https://orcid.org/0000-0003-0011-764X)
- MEDGEN:75559 (MONDO:equivalentTo)
- Orphanet:485 (OMIM:156550)
- NORD:1339 (MONDO:NORD)
- SCTID:53974002 (MONDO:equivalentTo)
- NCIT:C125594 (MONDO:equivalentTo)
- MESH:C537207 (Orphanet:485/e)
- GARD:6841 (MONDO:GARD)
ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare, clingen
https://omim.org/entry/156550
http://linkedlifedata.com/resource/umls/id/C0265279
http://identifiers.org/snomedct/53974002
http://identifiers.org/medgen/75559
http://identifiers.org/mesh/C537207
http://purl.obolibrary.org/obo/NCIT_C125594
http://www.orpha.net/ORDO/Orphanet_485
http://purl.obolibrary.org/obo/DOID_0080045
Term relations
- spondylometaphyseal dysplasia
- spondyloepiphyseal dysplasia
- type 2 collagenopathy
- disease has feature some Disproportionate short-trunk short stature
- disease has feature some collagenopathy
- disease has feature some Severe short stature
- disease has feature some Malar flattening
- has material basis in germline mutation in some COL2A1