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 |
SNOMEDCT_US_2020_03_01:63702009 OMIM:203800 MESH:D056769 UMLS_CUI:C0268425 NCI:C84549 |
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| has exact match |
MESH:D056769 |
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| has_obo_namespace |
disease_ontology |
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| id |
DOID:0050473 |
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| imported from | ||
| in_subset | ||
| label |
Alstrom syndrome |
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| notation |
DOID:0050473 |
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| prefLabel |
Alstrom syndrome |
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| textual 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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| subClassOf |