Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Alstrom syndrome
go back to main search page
Accession:DOID:0050473 term browser browse the term
Definition:A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene. (DO)
Synonyms:exact_synonym: ALMS;   ALSS;   Alstrom Hallgren syndrome;   Alstrom's syndrome;   Alstroms syndrome;   Alström syndrome
 primary_id: MESH:D056769
 alt_id: OMIM:203800
 xref: NCI:C84549
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Alstrom syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alms1 ALMS1, centrosome and basal body associated protein susceptibility ISO DNA:frameshift mutations, nonsense mutations
ClinVar Annotator: match by OMIM:203800
DNA:nonsense mutations, frameshift mutation, missense mutation:multiple
DNA:frameshift mutations, nonsense mutations, missense mutations:multiple
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alstrom syndrome
OMIM
ClinVar
CTD
PMID:9063741, PMID:9409865, PMID:11941369, PMID:11941370, PMID:15689433, PMID:16720663, PMID:17594715, PMID:17850632, PMID:18038714, PMID:18154657, PMID:18414213, PMID:19763152, PMID:20307669, PMID:21157496, PMID:21877133, PMID:21897446, PMID:21901789, PMID:21943378, PMID:22406018, PMID:22447358, PMID:22555271, PMID:22773737, PMID:22876109, PMID:23847139, PMID:24033266, PMID:24049434, PMID:24400638, PMID:24462884, PMID:24595103, PMID:25296579, PMID:25468891, PMID:25533962, PMID:25706677, PMID:25741868, PMID:25846608, PMID:25999675, PMID:26010121, PMID:26047050, PMID:26104972, PMID:26111748, PMID:26239645, PMID:26283575, PMID:26467025, PMID:26636822, PMID:26992781, PMID:27178444, PMID:27665122, PMID:28402684, PMID:28432734, PMID:28492532, PMID:28502102, PMID:28717663, PMID:29079548, PMID:29345162, PMID:29610177, PMID:29715191, PMID:32581362, PMID:11941369, PMID:16513793, PMID:16000322, PMID:22876109, PMID:16720663 RGD:1601169, RGD:8696013, RGD:8696015, RGD:8696016, RGD:8696018 NCBI chr 4:117,371,544...117,472,310
Ensembl chr 4:117,371,659...117,472,198
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Alstrom syndrome 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          neurodegenerative disease 3186
            eye degenerative disease 465
              retinal degeneration 463
                fundus dystrophy 331
                  retinitis pigmentosa 264
                    Alstrom syndrome 1
paths to the root

NHLBI Logo

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