Terminology Service for NFDI4Health
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.
Instance info
Synonyms
Alstroem-Syndrom (DE), Alstrom's Syndrome, Syndrome, Alstrom, Alström-Syndrom (DE), Syndrome, Alström, Syndrome, Alstrom's, Alstrom-Hallgren Syndrome, Alstroms Syndrome, Alström Syndrome, Syndrome, Alstrom-Hallgren, Alstrom Hallgren Syndrome
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
DC
1
DX
20100101
HN
2010
MDA
20090706
MMR
20160531
MN
C10.574.500.495.099,C11.270.684.249,C10.668.829.800.300.099,C16.131.666.300.099,C16.320.400.375.099,C16.320.290.684.249,C10.500.300.099,C16.131.077.245.063,C16.320.184.063
PM
2010
QB
http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503
SIB
http://purl.bioontology.org/ontology/MESH/D012035,http://purl.bioontology.org/ontology/MESH/D007690,http://purl.bioontology.org/ontology/MESH/D016767,http://purl.bioontology.org/ontology/MESH/D056768,http://purl.bioontology.org/ontology/MESH/D052245,http://purl.bioontology.org/ontology/MESH/D002607,http://purl.bioontology.org/ontology/MESH/D002925,http://purl.bioontology.org/ontology/MESH/D006623,http://purl.bioontology.org/ontology/MESH/D015419,http://purl.bioontology.org/ontology/MESH/D020788
TERMUI
T734364,T840882,T734367,T840881
TH
GHR (2014),ORD (2010),OMIM (2013),NLM (2010)
cui
C0268425
hasSTY
http://purl.bioontology.org/ontology/STY/T047
tui
T047
Instance relations
Types