Preferred Name

Alstrom Syndrome [Disease/Finding]

Synonyms

Alström Syndrome

ID

http://purl.bioontology.org/ontology/NDFRT/N0000181100

altLabel

Alström Syndrome

Alstrom Syndrome

Alstrom-Hallgren Syndrome

Alstrom's Syndrome

cui

C0268425

MESH 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.

MESH DUI

D056769

MeSH name

Alstrom Syndrome

MESH UI

M0529107

NDFRT kind

DISEASE_KIND

notation

N0000181100

NUI

N0000181100

prefLabel

Alstrom Syndrome [Disease/Finding]

tui

T047

subClassOf

http://purl.bioontology.org/ontology/NDFRT/N0000002614

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http://purl.bioontology.org/ontology/SNMI/D6-96300 SNMI CUI
http://purl.bioontology.org/ontology/OMIM/606844 OMIM CUI
http://purl.bioontology.org/ontology/CSP/1254-7727 CRISP CUI
http://purl.bioontology.org/ontology/OMIM/203800 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10068814 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/Xa0Zf RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10068783 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/63702009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/CSP/0944-7801 CRISP CUI
http://purl.bioontology.org/ontology/CSP/1114-9526 CRISP CUI
http://purl.bioontology.org/ontology/MESH/D056769 MESH CUI