loading...| Preferred Name | Alstrom syndrome | |
| Synonyms |
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| Definitions |
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. OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0050473 |
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| comment |
OMIM mapping confirmed by DO. [SN]. |
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| database_cross_reference |
MESH:D056769 SNOMEDCT_US_2023_03_01:63702009 UMLS_CUI:C0268425 MIM:203800 NCI:C84549 |
|
| 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. OMIM mapping confirmed by DO. [SN]. |
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| has close match |
MESH:D056769 |
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| has exact match |
MESH:D056769 |
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| has material basis in | ||
| has symptom | ||
| has_obo_namespace |
disease_ontology |
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| id |
DOID:0050473 |
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| in_subset | ||
| label |
Alstrom syndrome |
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| notation |
DOID:0050473 |
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| note |
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. OMIM mapping confirmed by DO. [SN]. |
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| preferred label |
Alstrom syndrome |
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| prefLabel |
Alstrom syndrome |
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| subClassOf |