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cardiomyopathy-cataract-hip spine disease syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0015282

Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985. [ Orphanet:1345 ]

Synonyms: Krasnow-Qazi syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:1345 (MONDO:equivalentTo)
  • SCTID:720609003 (MONDO:equivalentTo)
  • MESH:C537616 (MONDO:equivalentTo)
  • GARD:1102 (MONDO:GARD)
  • UMLS:C2931548 (MONDO:equivalentTo)
  • MEDGEN:419439 (MONDO:equivalentTo)
Subsets

ordo_disorder, gard_rare, otar, rare, orphanet_rare

exactMatch

http://identifiers.org/snomedct/720609003

http://identifiers.org/mesh/C537616

http://identifiers.org/medgen/419439

http://linkedlifedata.com/resource/umls/id/C2931548

http://www.orpha.net/ORDO/Orphanet_1345

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0016337

has related synonym

familial dilated cardiomyopathy associated with cataracts and hip-spine disease

cardiomyopathy cataract hip spine disease

Krasnow Qazi Yermakov syndrome

Krasnow Qazi syndrome

id

MONDO:0015282

seeAlso

https://rarediseases.info.nih.gov/diseases/1102/cardiomyopathy-cataract-hip-spine-disease

term tracker item

https://github.com/monarch-initiative/mondo/issues/324