Preferred Name |
Alstrom syndrome |
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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. |
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ID |
http://purl.obolibrary.org/obo/DOID_0050473 |
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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. |
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imported from | ||
label |
Alstrom syndrome |
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prefixIRI |
DOID:0050473 |
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prefLabel |
Alstrom syndrome |
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subClassOf |
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