Preferred Name |
Alstrom syndrome |
|
Synonyms |
|
|
Definitions |
OMIM mapping confirmed by DO. [SN]. 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. |
|
ID |
http://purl.obolibrary.org/obo/DOID_0050473 |
|
comment |
OMIM mapping confirmed by DO. [SN]. |
|
database_cross_reference |
SNOMEDCT_US_2020_03_01:63702009 OMIM:203800 MESH:D056769 UMLS_CUI:C0268425 NCI:C84549 |
|
has exact match |
MESH:D056769 |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:0050473 |
|
imported from | ||
in_subset | ||
label |
Alstrom syndrome |
|
notation |
DOID:0050473 |
|
prefLabel |
Alstrom syndrome |
|
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. |
|
subClassOf |
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