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Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/D056769
http://purl.bioontology.org/ontology/MESH/D056769
|
|---|---|
| Preferred Name | Alstrom Syndrome |
| Definitions |
Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene.
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| Synonyms |
Syndrome, Alstrom
Alstrom Hallgren Syndrome
Syndrome, Alström
Syndrome, Alstrom-Hallgren
Alstroms Syndrome
Syndrome, Alstrom's
Alstrom-Hallgren Syndrome
Alström Syndrome
Alstrom's Syndrome
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene. |
|---|---|
| altLabel |
Syndrome, Alstrom
Alstrom Hallgren Syndrome
Syndrome, Alström
Syndrome, Alstrom-Hallgren
Alstroms Syndrome
Syndrome, Alstrom's
Alstrom-Hallgren Syndrome
Alström Syndrome
Alstrom's Syndrome
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| prefLabel | Alstrom Syndrome
|
| Machine permutation | 2010
|
| HN | 2010
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| type | |
| tui | T047
|
| TERMUI |
T840882
T840881
T734364
T734367
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| TH |
OMIM (2013)
NLM (2010)
GHR (2014)
ORD (2010)
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| MMR | 20160531
|
| notation | D056769
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| Semantic type UMLS property | |
| Inverse of AQ |
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| DX | 20100101
|
| cui | C0268425
|
| DC | 1
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| MN |
C16.320.400.375.099
C10.668.829.800.300.099
C11.270.684.249
C10.574.500.495.099
C16.320.184.063
C16.131.077.245.063
C10.500.300.099
C16.131.666.300.099
C16.320.290.684.249
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| AQL | BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
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| MDA | 20090202
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| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |