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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:Fanconi syndrome
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Accession:DOID:1062 term browser browse the term
Definition:A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting. (DO)
Synonyms:exact_synonym: De Toni-Debre-Fanconi Syndrome;   FBS;   FRTS;   Fanconi Bickel Syndrome;   Fanconi Renotubular Syndrome;   Fanconi Syndrome with Intestinal Malabsorption and Galactose Intolerance;   Fanconi Syndrome without Cystinosis;   Fanconi Type Glycogenosis;   Fanconi-Bickel syndromes;   Fanconi-de-Toni syndrome;   Hepatic Glycogenosis with Amino Aciduria and Glucosuria;   Hepatic Glycogenosis with Fanconi Nephropathy;   Hepatorenal Glycogenosis with Renal Fanconi Syndrome;   Idiopathic De Toni-Debre-Fanconi Syndrome;   Lignac Fanconi Syndrome;   Luder Sheldon Syndrome;   Neonatal De Toni-Debre-Fanconi Syndrome;   Primary Toni-Debre-Fanconi Syndrome;   RFS;   Toni-Debre-Fanconi syndrome;   adult Fanconi anemia;   adult Fanconi syndrome;   congenital Fanconi syndrome;   deToni Fanconi syndrome;   proximal renal tubular dysfunction;   pseudo phlorizin diabetes;   renal Fanconi syndrome
 related_synonym: glycogen storage disease XI
 primary_id: MESH:D005198
 alt_id: OMIM:227810
 xref: GARD:9118;   NCI:C3034;   NCI:C4377;   OMIM:PS134600;   ORDO:3337
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Fanconi syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ehhadh enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:82,945,104...82,978,364
Ensembl chr11:82,945,104...82,978,364
JBrowse link
G Gatm glycine amidinotransferase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:114,711,570...114,728,155
Ensembl chr 3:114,711,562...114,728,410
JBrowse link
G Gpx3 glutathione peroxidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9851889 NCBI chr10:40,247,436...40,255,423
Ensembl chr10:40,247,436...40,255,422
JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISS OMIM:134600 | OMIM:613388 | OMIM:615605 MouseDO NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
JBrowse link
G Ldha lactate dehydrogenase A ISO ClinVar Annotator: match by term: Glycogen storage disease XI ClinVar PMID:1953713, PMID:1959923, PMID:2334430, PMID:3092644, PMID:8327147, PMID:26838040, PMID:28492532 NCBI chr 1:102,900,288...102,909,713
Ensembl chr 1:102,900,286...102,909,707
JBrowse link
G Lrp2 LDL receptor related protein 2 ISS OMIM:134600 | OMIM:613388 | OMIM:615605 MouseDO NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome
ClinVar Annotator: match by OMIM:227810
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:6274135, PMID:7564233, PMID:7632512, PMID:8362811, PMID:9266402, PMID:9354798, PMID:9686354, PMID:10697967, PMID:10987651, PMID:11044475, PMID:11810292, PMID:13480676, PMID:14551916, PMID:14688257, PMID:15397919, PMID:18414213, PMID:22145468, PMID:22865906, PMID:23986439, PMID:24033266, PMID:24718840, PMID:25741868, PMID:25919556, PMID:27487919, PMID:27738794, PMID:28492532 NCBI chr 2:114,413,427...114,445,418
Ensembl chr 2:114,413,410...114,445,395
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO DNA:duplication:exon:g.2061_2081dup (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:20335586 RGD:7242923 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
Fanconi renotubular syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ehhadh enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase ISO ClinVar Annotator: match by term: Fanconi renotubular syndrome 1 ClinVar PMID:25741868 NCBI chr11:82,945,104...82,978,364
Ensembl chr11:82,945,104...82,978,364
JBrowse link
G Gatm glycine amidinotransferase ISO ClinVar Annotator: match by term: Fanconi renotubular syndrome 1 OMIM
ClinVar
PMID:29654216 NCBI chr 3:114,711,570...114,728,155
Ensembl chr 3:114,711,562...114,728,410
JBrowse link
Fanconi renotubular syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Fanconi renotubular syndrome 2 OMIM
ClinVar
PMID:2842681, PMID:20335586 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
Fanconi renotubular syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ehhadh enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase ISO ClinVar Annotator: match by term: Fanconi renotubular syndrome 3 OMIM
ClinVar
PMID:1627757, PMID:24401050 NCBI chr11:82,945,104...82,978,364
Ensembl chr11:82,945,104...82,978,364
JBrowse link
Fanconi renotubular syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf4a hepatocyte nuclear factor 4, alpha ISO ClinVar Annotator: match by term: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young OMIM
ClinVar
PMID:20164212, PMID:22802087, PMID:24285859, PMID:25741868, PMID:25819479, PMID:27245055, PMID:28458902, PMID:28693455 NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
JBrowse link
Fanconi renotubular syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 ISO ClinVar Annotator: match by term: FANCONI RENOTUBULAR SYNDROME 5 OMIM
ClinVar
PMID:27466185 NCBI chr 5:24,297,169...24,320,804
Ensembl chr 5:24,297,094...24,320,786
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Fanconi syndrome 9
        Deal Barratt Dillon Syndrome 0
        Fanconi renotubular syndrome 1 2
        Fanconi renotubular syndrome 2 1
        Fanconi renotubular syndrome 3 1
        Fanconi renotubular syndrome 4 1
        Fanconi renotubular syndrome 5 1
        Preeyasombat Varavithya Syndrome 0
        Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 0
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Urogenital Diseases 4145
        urinary system disease 2069
          kidney disease 1857
            renal tubular transport disease 93
              Fanconi syndrome 9
                Deal Barratt Dillon Syndrome 0
                Fanconi renotubular syndrome 1 2
                Fanconi renotubular syndrome 2 1
                Fanconi renotubular syndrome 3 1
                Fanconi renotubular syndrome 4 1
                Fanconi renotubular syndrome 5 1
                Preeyasombat Varavithya Syndrome 0
                Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 0
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.