loading...| Preferred Name |
Alstrom Syndrome [Disease/Finding] |
|
| Synonyms |
Alstrom-Hallgren Syndrome |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000181100 |
|
| altLabel |
Alstrom-Hallgren Syndrome Alström Syndrome Alstrom Syndrome Alstrom's Syndrome |
|
| cui |
C0268425 |
|
| MESH DEFINITION |
Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene. |
|
| MESH DUI |
D056769 |
|
| MeSH name |
Alstrom Syndrome |
|
| MESH UI |
M0529107 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000181100 |
|
| NUI |
N0000181100 |
|
| prefLabel |
Alstrom Syndrome [Disease/Finding] |
|
| tui |
T047 |
|
| subClassOf |