Preferred Name |
Alstrom Syndrome |
|
Synonyms |
|
|
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Alstrom_Syndrome |
|
DEFINITION |
A rare autosomal recessive syndrome caused by mutations in the gene ALMS1. Signs and symptoms include blindness, obesity, hearing loss, endocrine abnormalities, cardiomyopathy and congestive heart failure, hepatic and renal failure. |
|
isDefinedBy |
A rare autosomal recessive syndrome caused by mutations in the gene ALMS1. Signs and symptoms include blindness, obesity, hearing loss, endocrine abnormalities, cardiomyopathy and congestive heart failure, hepatic and renal failure. |
|
label |
Alstrom Syndrome |
|
prefixIRI |
Thesaurus:Alstrom_Syndrome |
|
prefLabel |
Alstrom Syndrome |
|
subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder |
Create mapping