Alstrom syndrome

Term ID

DOID:0050473

Synonyms

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

References

• MESH:D056769
• MIM:203800
• NCI:C84549
• SNOMEDCT_US_2023_03_01:63702009
• UMLS_CUI:C0268425

Ontology

Human Disease   ( DOID:0050473 )