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ID DOID:0050473
Name Alstrom syndrome
Definition 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.
http://en.wikipedia.org/wiki/Alstrom_syndrome
Xrefs

MESH:D056769

NCI:C84549

OMIM:203800

SNOMEDCT_US_2020_09_01:63702009

UMLS_CUI:C0268425

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is_a syndrome

is_a autosomal recessive disease

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