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DO Term : Alstrom syndrome [DOID:0050473] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene.
  • synonyms:
  • NCI:C84549,
  • OMIM:203800,
  • UMLS_CUI:C0268425,
  • SNOMEDCT_US_2023_03_01:63702009,
  • MESH:D056769,
  • 203800
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents