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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


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 IAGP
ISO
EXP
ISS		 DNA:frameshift mutations, nonsense mutations
DNA:nonsense mutations, frameshift mutation, missense mutation:multiple
DNA:frameshift mutations, nonsense mutations, missense mutations:multiple
ClinVar Annotator: match by term: Alstrom syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alstrom's syndrome
OMIM:203800
ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome
ClinVar Annotator: match by term: ALMS1-related condition
ClinVar Annotator: match by term: ALMS1-related condition | ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome		 ClinVar
OMIM
CTD
MouseDO
RGD		 PMID:9063741 PMID:9409865 PMID:9536098 PMID:11941369 PMID:11941370 More... RGD:1601169, RGD:8696013, RGD:8696015, RGD:8696016, RGD:8696018 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G ALMS1-IT1 ALMS1 intronic transcript 1 IAGP ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:25741868 NCBI chr 2:73,457,103...73,459,482
Ensembl chr 2:73,456,764...73,459,482 		JBrowse link
G CCT7 chaperonin containing TCP1 subunit 7 IAGP ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 2:73,234,308...73,253,005
Ensembl chr 2:73,233,420...73,253,021 		JBrowse link
G EGR4 early growth response 4 IAGP ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 2:73,290,929...73,293,548
Ensembl chr 2:73,290,929...73,293,701 		JBrowse link
G EMX1 empty spiracles homeobox 1 IAGP ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 2:72,916,189...72,934,891
Ensembl chr 2:72,916,260...72,936,071 		JBrowse link
G FBXO41 F-box protein 41 IAGP ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 2:73,254,690...73,284,478
Ensembl chr 2:73,254,682...73,284,478 		JBrowse link
G LOC126806252 BRD4-independent group 4 enhancer GRCh37_chr2:73828496-73829695 IAGP ClinVar Annotator: match by term: Alstrom's syndrome
ClinVar Annotator: match by term: Alstrom syndrome
ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome
ClinVar Annotator: match by term: ALMS1-related condition | ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:17594715 PMID:19283855 More... NCBI chr 2:73,601,029...73,602,568 JBrowse link
G NOTO notochord homeobox IAGP ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 2:73,202,574...73,212,513
Ensembl chr 2:73,202,574...73,212,513 		JBrowse link
G PRADC1 protease associated domain containing 1 IAGP ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 2:73,228,006...73,233,284
Ensembl chr 2:73,228,010...73,233,239 		JBrowse link
G RAB11FIP5 RAB11 family interacting protein 5 IAGP ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 2:73,073,382...73,112,948
Ensembl chr 2:73,073,382...73,156,721 		JBrowse link
G SFXN5 sideroflexin 5 IAGP ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 2:72,942,036...73,071,712
Ensembl chr 2:72,942,036...73,075,619 		JBrowse link
G SMYD5 SMYD family member 5 IAGP ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 2:73,214,245...73,227,221
Ensembl chr 2:73,214,222...73,227,221 		JBrowse link
G SPR sepiapterin reductase IAGP ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 2:72,887,408...72,892,158
Ensembl chr 2:72,887,382...72,892,158 		JBrowse link
G TANGO2 transport and golgi organization 2 homolog IAGP ClinVar Annotator: match by term: Alstrom's syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30245509 More... NCBI chr22:20,017,023...20,067,164
Ensembl chr22:20,017,014...20,067,164 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35773
    syndrome 18145
      Alstrom syndrome 14
Path 2
Term Annotations click to browse term
  disease 35773
    disease of anatomical entity 32516
      nervous system disease 26410
        Neurologic Manifestations 15470
          sensory system disease 9826
            eye disease 4965
              retinal disease 2043
                retinal degeneration 1188
                  fundus dystrophy 1020
                    retinitis pigmentosa 889
                      Alstrom syndrome 14
paths to the root