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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;   FRTS;   Fanconi Renotubular Syndrome;   Fanconi Syndrome with Intestinal Malabsorption and Galactose Intolerance;   Fanconi Syndrome without Cystinosis;   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
 primary_id: MESH:D005198
 xref: GARD:9118;   MIM:PS134600;   NCI:C3034;   NCI:C4377;   ORDO:3337
For additional species annotation, visit the Alliance of Genome Resources.


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Fanconi syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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 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 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 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 Ldha lactate dehydrogenase A ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome | 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 Slc2a2 solute carrier family 2 member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pseudo-Phlorizin diabetes
ClinVar Annotator: match by term: Fanconi-Bickel syndrome | ClinVar Annotator: match by term: Glycogen storage disease XI		 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 Whamm WASP homolog associated with actin, golgi membranes and microtubules ISS MouseDO NCBI chr 1:135,526,363...135,557,091
Ensembl chr 1:135,526,386...135,554,759 		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 OMIM
ClinVar		 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 19057
    syndrome 11177
      Fanconi syndrome 13
        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 19057
    disease of anatomical entity 18393
      Urogenital Diseases 5269
        urinary system disease 2830
          kidney disease 2580
            renal tubular transport disease 109
              Fanconi syndrome 13
                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