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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
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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;   ALMS1-RELATED CONDITION;   ALSS;   Alstrom Hallgren syndrome;   Alstrom syndrome;   Alstrom's syndrome;   Alstroms syndrome
 primary_id: MESH:D056769
 alt_id: OMIM:203800
 xref: EFO:MONDO:0008763;   NCI:C84549

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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 ClinVar Annotator: match by term: ALMS1-related condition | ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome
DNA:frameshift mutations, nonsense mutations		 OMIM
ClinVar
RGD		 PMID:9063741 PMID:9409865 PMID:9536098 PMID:11941369 PMID:11941370 More... RGD:1601169 NCBI chrNW_004936491:17,152,759...17,342,648 JBrowse link
G Cct7 chaperonin containing TCP1 subunit 7 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chrNW_004936491:17,017,687...17,033,526
Ensembl chrNW_004936491:17,017,687...17,033,855 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 More... NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643 		JBrowse link
G Egr4 early growth response 4 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chrNW_004936491:17,068,797...17,071,608
Ensembl chrNW_004936491:17,069,325...17,071,226 		JBrowse link
G Emx1 empty spiracles homeobox 1 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chrNW_004936491:16,745,310...16,762,422
Ensembl chrNW_004936491:16,745,310...16,762,422 		JBrowse link
G Fbxo41 F-box protein 41 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chrNW_004936491:17,035,988...17,048,165
Ensembl chrNW_004936491:17,034,169...17,061,752 		JBrowse link
G Noto notochord homeobox ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chrNW_004936491:16,987,797...16,996,423
Ensembl chrNW_004936491:16,987,642...16,996,579 		JBrowse link
G Pradc1 protease associated domain containing 1 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chrNW_004936491:17,011,999...17,016,773
Ensembl chrNW_004936491:17,009,723...17,016,784 		JBrowse link
G Rab11fip5 RAB11 family interacting protein 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chrNW_004936491:16,883,972...16,919,539
Ensembl chrNW_004936491:16,886,065...16,919,545 		JBrowse link
G Sfxn5 sideroflexin 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chrNW_004936491:16,769,960...16,882,776
Ensembl chrNW_004936491:16,769,979...16,882,781 		JBrowse link
G Smyd5 SMYD family member 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chrNW_004936491:16,997,962...17,011,470
Ensembl chrNW_004936491:16,997,962...17,011,551 		JBrowse link
G Spr sepiapterin reductase ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chrNW_004936491:16,693,940...16,699,040 JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: Alstrom syndrome
ClinVar Annotator: match by term: Alstrom's syndrome		 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30245509 More... NCBI chrNW_004936619:3,934,791...3,973,695
Ensembl chrNW_004936619:3,934,314...3,975,240 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9489
      Alstrom syndrome 13
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        Neurologic Manifestations 9046
          sensory system disease 6279
            eye disease 3211
              retinal disease 1118
                retinal degeneration 782
                  fundus dystrophy 662
                    retinitis pigmentosa 568
                      Alstrom syndrome 13
paths to the root