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Alstrom syndrome

Go to external page 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 ]

Synonyms: ALSS Alström syndrome Alstrom syndrome ALMS

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:64 (OMIM:203800)
  • OMIM:203800 (Orphanet:64/e)
  • MedDRA:10068783 (Orphanet:64/e)
  • NORD:757 (MONDO:NORD)
  • ICD9:759.89 (MONDO:relatedTo)
  • DOID:0050473 (MONDO:equivalentTo)
  • UMLS:C0268425 (Orphanet:64/e)
  • NCIT:C84549 (MONDO:equivalentTo)
  • GARD:5787 (Orphanet:64)
  • SCTID:63702009 (MONDO:equivalentTo)
  • MESH:D056769 (Orphanet:64/e)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

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

closeMatch

http://identifiers.org/meddra/10068783

exactMatch

http://identifiers.org/mesh/D056769

http://linkedlifedata.com/resource/umls/id/C0268425

https://omim.org/entry/203800

http://www.orpha.net/ORDO/Orphanet_64

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 related synonym

Alstrom's syndrome

id

MONDO:0008763

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0008763