JSON

Alstrom syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008763

A multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction. [ Orphanet:64 ]

Term info

database cross reference
  • MESH:D056769 (Orphanet:64/e)
  • UMLS:C0268425 (Orphanet:64/e)
  • NCIT:C84549 (MONDO:equivalentTo)
  • ICD9:759.89 (MONDO:relatedTo)
  • GARD:0005787 (MONDO:equivalentTo)
  • Orphanet:64 (OMIM:203800)
  • OMIM:203800 (Orphanet:64/e)
  • DOID:0050473 (MONDO:equivalentTo)
  • SCTID:63702009 (MONDO:equivalentTo)
  • MedDRA:10068783 (Orphanet:64/e)
Subsets

ordo_disease

abbreviation
ALSS [ OMIM:203800 ]

abbreviation
ALMS [ MONDO:Lexical OMIM:203800 ]

IAO 0000233

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

closeMatch

http://identifiers.org/meddra/10068783

definition

A multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_64, http://linkedlifedata.com/resource/umls/id/C0268425, http://identifiers.org/mesh/D056769, https://omim.org/entry/203800, http://purl.obolibrary.org/obo/NCIT_C84549, http://purl.obolibrary.org/obo/DOID_0050473, http://identifiers.org/snomedct/63702009

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015962, http://purl.obolibrary.org/obo/MONDO_0016337, http://purl.obolibrary.org/obo/MONDO_0005015, http://purl.obolibrary.org/obo/MONDO_0005240, http://purl.obolibrary.org/obo/MONDO_0020240

has exact synonym

ALSS, Alström syndrome, Alstrom syndrome, ALMS

has related synonym

Alstrom's syndrome

id

MONDO:0008763