Medical Subject Headings

Last uploaded: April 29, 2019
Preferred Name

Alstrom Syndrome

Synonyms

Syndrome, Alström

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.

ID

http://purl.bioontology.org/ontology/MESH/D056769

altLabel

Syndrome, Alström

Syndrome, Alstrom's

Alstrom Hallgren Syndrome

Alstrom-Hallgren Syndrome

Alstroms Syndrome

Alström Syndrome

Alstrom's Syndrome

Syndrome, Alstrom

Syndrome, Alstrom-Hallgren

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

cui

C0268425

DC

1

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.

DX

20100101

HN

2010

Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000401

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000469

Inverse of SIB

http://purl.bioontology.org/ontology/MESH/D002607

http://purl.bioontology.org/ontology/MESH/D056768

http://purl.bioontology.org/ontology/MESH/D015419

http://purl.bioontology.org/ontology/MESH/D016767

http://purl.bioontology.org/ontology/MESH/D007690

http://purl.bioontology.org/ontology/MESH/D002925

http://purl.bioontology.org/ontology/MESH/D012035

http://purl.bioontology.org/ontology/MESH/D020788

http://purl.bioontology.org/ontology/MESH/D006623

http://purl.bioontology.org/ontology/MESH/D052245

Machine permutation

2010

MDA

20090706

MMR

20160531

MN

C16.131.666.300.099

C16.320.400.375.099

C10.500.300.099

C11.270.684.249

C16.131.077.245.063

C10.574.500.495.099

C10.668.829.800.300.099

C16.320.184.063

C16.320.290.684.249

notation

D056769

prefLabel

Alstrom Syndrome

TERMUI

T840882

T734364

T840881

T734367

TH

NLM (2010)

ORD (2010)

OMIM (2013)

GHR (2014)

tui

T047

subClassOf

http://purl.bioontology.org/ontology/MESH/D000072661

http://purl.bioontology.org/ontology/MESH/D015417

http://purl.bioontology.org/ontology/MESH/D012174

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