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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 Actrt3 actin-related protein T3 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:112,799,038...112,801,065
Ensembl chr 2:112,799,011...112,801,075 		JBrowse link
G Cldn11 claudin 11 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:112,207,745...112,221,050
Ensembl chr 2:112,207,745...112,221,050 		JBrowse link
G Ctns cystinosin, lysosomal cystine transporter IMP RGD PMID:35695380 RGD:155630629 NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120 		JBrowse link
G Ect2 epithelial cell transforming 2 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:109,975,813...110,037,911
Ensembl chr 2:109,975,813...110,037,911 		JBrowse link
G Ehhadh enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:79,241,927...79,275,173
Ensembl chr11:79,241,938...79,275,188 		JBrowse link
G Eif5a2 eukaryotic translation initiation factor 5A2 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:111,728,587...111,746,087
Ensembl chr 2:111,729,323...111,746,087 		JBrowse link
G Fndc3b fibronectin type III domain containing 3B ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:110,311,439...110,617,504
Ensembl chr 2:110,312,694...110,547,830 		JBrowse link
G Gatm glycine amidinotransferase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129 		JBrowse link
G Ghsr growth hormone secretagogue receptor ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865 		JBrowse link
G Gpr160 G protein-coupled receptor 160 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:112,483,364...112,563,072
Ensembl chr 2:112,484,935...112,563,148 		JBrowse link
G Gpx3 glutathione peroxidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9851889 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
G Gtf2h1 general transcription factor IIH subunit 1 ISO ClinVar Annotator: match by term: Glycogen storage disease XI ClinVar PMID:28492532 NCBI chr 1:97,321,417...97,349,455
Ensembl chr 1:97,321,394...97,349,455 		JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISS OMIM:134600 | OMIM:613388 | OMIM:615605 MouseDO NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320 		JBrowse link
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISO ClinVar Annotator: match by term: Glycogen storage disease XI ClinVar PMID:28492532 NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019 		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:7603529 More... NCBI chr 1:97,371,823...97,381,247
Ensembl chr 1:97,366,021...97,433,472 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISS OMIM:134600 | OMIM:613388 | OMIM:615605 MouseDO NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708 		JBrowse link
G Lrrc31 leucine rich repeat containing 31 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:112,702,844...112,725,431
Ensembl chr 2:112,700,136...112,724,322 		JBrowse link
G Lrrc34 leucine rich repeat containing 34 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:112,752,294...112,774,463
Ensembl chr 2:112,754,578...112,774,459 		JBrowse link
G Lrriq4 leucine-rich repeats and IQ motif containing 4 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:112,729,298...112,756,338
Ensembl chr 2:112,729,417...112,753,234 		JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590 		JBrowse link
G Mynn myoneurin ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:112,779,654...112,797,188
Ensembl chr 2:112,779,657...112,796,397 		JBrowse link
G Nceh1 neutral cholesterol ester hydrolase 1 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:110,074,985...110,135,592
Ensembl chr 2:110,074,957...110,135,588 		JBrowse link
G Phc3 polyhomeotic homolog 3 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:112,408,709...112,483,719
Ensembl chr 2:112,408,531...112,476,540 		JBrowse link
G Pld1 phospholipase D1 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:110,849,205...111,047,304
Ensembl chr 2:110,893,608...111,047,692 		JBrowse link
G Prkci protein kinase C, iota ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:112,321,919...112,382,305
Ensembl chr 2:112,321,929...112,382,352 		JBrowse link
G Rpl22l1 ribosomal protein L22 like 1 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:111,754,687...111,756,623
Ensembl chr 2:111,754,687...111,756,625 		JBrowse link
G Samd7 sterile alpha motif domain containing 7 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:112,623,135...112,644,269
Ensembl chr 2:112,624,942...112,639,549 		JBrowse link
G Sec62 SEC62 homolog, preprotein translocation factor ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:112,570,810...112,598,198
Ensembl chr 2:112,570,819...112,601,814 		JBrowse link
G Skil SKI-like proto-oncogene ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:112,247,047...112,275,176
Ensembl chr 2:112,247,051...112,275,080 		JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi-Bickel syndrome | ClinVar Annotator: match by term: Glycogen storage disease XI
ClinVar Annotator: match by term: Fanconi-Bickel syndrome | ClinVar Annotator: match by term: Glycogen storage disease XI | ClinVar Annotator: match by term: Glycogenosis Fanconi type		 OMIM
CTD
ClinVar		 PMID:3839598 PMID:6274135 PMID:7564233 PMID:7632512 PMID:8027028 More... NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO DNA:duplication:exon:g.2061_2081dup (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20335586 RGD:7242923 NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
G Slc7a14 solute carrier family 7, member 14 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:112,065,286...112,171,319
Ensembl chr 2:112,065,286...112,171,313 		JBrowse link
G Spata16 spermatogenesis associated 16 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:109,485,287...109,865,665
Ensembl chr 2:109,485,274...109,865,659 		JBrowse link
G Terc telomerase RNA component ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:112,815,654...112,816,041 JBrowse link
G Tmem212 transmembrane protein 212 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:110,775,950...110,813,313
Ensembl chr 2:110,775,953...110,813,273 		JBrowse link
G Tnfsf10 TNF superfamily member 10 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:110,199,835...110,227,239
Ensembl chr 2:110,207,916...110,225,135 		JBrowse link
G Tnik TRAF2 and NCK interacting kinase ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:111,184,352...111,587,993
Ensembl chr 2:111,184,387...111,580,750 		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 chr11:79,241,927...79,275,173
Ensembl chr11:79,241,938...79,275,188 		JBrowse link
G Gatm glycine amidinotransferase ISO ClinVar Annotator: match by term: Fanconi renotubular syndrome 1 | ClinVar Annotator: match by term: GATM-related condition OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29654216 PMID:35738466 NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129 		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:16688119 PMID:20335586 PMID:24033266 PMID:25741868 More... NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		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: EHHADH-related condition | ClinVar Annotator: match by term: Fanconi renotubular syndrome 3 OMIM
ClinVar		 PMID:1627757 PMID:24401050 PMID:25741868 PMID:28492532 PMID:35738466 NCBI chr11:79,241,927...79,275,173
Ensembl chr11:79,241,938...79,275,188 		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: FRTS4 WITH MODY | ClinVar Annotator: match by term: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10227563 PMID:15123688 PMID:15826954 PMID:17563455 PMID:18268044 More... NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320 		JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO ClinVar Annotator: match by term: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young ClinVar PMID:25741868 NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451 		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:25741868 PMID:27466185 PMID:28492532 NCBI chr 5:24,147,712...24,171,981
Ensembl chr 5:24,147,735...24,171,951 		JBrowse link
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction OMIM
ClinVar		 PMID:8279480 PMID:17486094 PMID:21378381 PMID:24741716 PMID:25741868 More... NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10886
      Fanconi syndrome 40
        Deal Barratt Dillon Syndrome 0
        Fanconi renotubular syndrome 1 2
        Fanconi renotubular syndrome 2 1
        Fanconi renotubular syndrome 3 1
        Fanconi renotubular syndrome 4 2
        Fanconi renotubular syndrome 5 1
        Preeyasombat Varavithya Syndrome 0
        Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      Urogenital Diseases 5233
        urinary system disease 2830
          kidney disease 2586
            renal tubular transport disease 134
              Fanconi syndrome 40
                Deal Barratt Dillon Syndrome 0
                Fanconi renotubular syndrome 1 2
                Fanconi renotubular syndrome 2 1
                Fanconi renotubular syndrome 3 1
                Fanconi renotubular syndrome 4 2
                Fanconi renotubular syndrome 5 1
                Preeyasombat Varavithya Syndrome 0
                Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 1
paths to the root