loading...| Preferred Name | Alstrom Syndrome | |
| Synonyms |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C84549 |
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| ALT_DEFINITION |
An autosomal recessive syndrome caused by mutation(s) in the ALMS1 gene encoding Alstrom syndrome protein 1. The condition is characterized by hyperphagia, obesity, insulin resistance, type 2 diabetes mellitus, hypogonadism, blindness, hearing loss, dilated cardiomyopathy and congestive heart failure, and hepatic and renal failure. Additionally, polycystic ovarian syndrome may occur in female individuals. |
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| code |
C84549 |
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| Contributing_Source |
Cellosaurus NICHD |
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| 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. |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 |
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| label |
Alstrom Syndrome |
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| Preferred_Name |
Alstrom Syndrome |
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| prefixIRI |
NCIT:C84549 |
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| prefLabel |
Alstrom Syndrome |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0268425 |
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| subClassOf |