| Metadata | |
|---|---|
| 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 |
| SKOS |
exactMatch MESH:D056769 |
| Subsets |
NCIthesaurus |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance has symptom some blindness |