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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
 xref: NCI:C84549
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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:7240710
RGD:8554872
RGD:8696013
RGD:8696015
RGD:8696016
RGD:8696018
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    syndrome 5159
      Alstrom syndrome 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        sensory system disease 4681
          eye and adnexa disease 2253
            eye disease 2253
              retinal disease 716
                retinal degeneration 408
                  fundus dystrophy 265
                    retinitis pigmentosa 242
                      Alstrom syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.