JSON

Sengers syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008922

Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. [ Orphanet:1369 ]

Term info

database cross reference
  • OMIM:212350 (Orphanet:1369/e)
  • SCTID:717812000 (MONDO:equivalentTo)
  • MESH:C538280 (Orphanet:1369/e)
  • Orphanet:1369 (OMIM:212350)
  • DOID:0080132 (MONDO:equivalentTo)
  • UMLS:C1859317 (Orphanet:1369/e)
  • GARD:0001142 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

definition

Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.

exactMatch

http://purl.obolibrary.org/obo/DOID_0080132, http://linkedlifedata.com/resource/umls/id/C1859317, http://identifiers.org/mesh/C538280, http://purl.obolibrary.org/obo/Orphanet_1369, http://identifiers.org/snomedct/717812000, https://omim.org/entry/212350

has exact synonym

mitochondrial DNA depletion syndrome 10, Sengers syndrome

has related synonym

mitochondrial DNA depletion syndrome 10 (Cardiomyopathic type), congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome, cardiomyopathy and cataract, cataract and cardiomyopathy, cardiomyopathic mitochondrial DNA depletion syndrome 10

id

MONDO:0008922

seeAlso

https://rarediseases.info.nih.gov/diseases/1142/sengers-syndrome