ONTOLOGY REPORT - ANNOTATIONS


Term:Alstrom syndrome
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Accession:DOID:0050473 term browser browse the term
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.
Synonyms:exact_synonym: ALMS;   ALSS;   Alstrom Hallgren Syndrome;   Alstrom's Syndrome;   Alstroms syndrome;   Alström syndrome
 primary_id: MESH:D056769
 alt_id: OMIM:203800;   RDO:0007757
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Alstrom syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alms1 ALMS1, centrosome and basal body associated protein JBrowse link 4 117,371,544 117,472,310 RGD:1601169
RGD:8554872
RGD:7240710
RGD:8696013
RGD:8696015
RGD:8696016
RGD:8696018
RGD:11554173
G Polr3b RNA polymerase III subunit B JBrowse link 7 24,745,051 24,851,227 RGD:8554872

Term paths to the root
Path 1
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  disease 14875
    syndrome 4220
      Alstrom syndrome 2
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          eye and adnexa disease 1985
            eye disease 1985
              retinal disease 719
                retinal degeneration 410
                  fundus dystrophy 264
                    retinitis pigmentosa 237
                      Alstrom syndrome 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.