Metadata | |
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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 |
SNOMEDCT_US_2023_03_01:63702009 |
Subsets |
NCIthesaurus |
Parent Relationships |
is_a syndrome |