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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
For additional species annotation, visit the Alliance of Genome Resources.


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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
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Alstrom syndrome 2
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          eye and adnexa disease 1971
            eye disease 1971
              retinal disease 704
                retinal degeneration 409
                  fundus dystrophy 263
                    retinitis pigmentosa 236
                      Alstrom syndrome 2
paths to the root