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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.



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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 chr11:79,241,927...79,275,173
Ensembl chr11:79,241,938...79,275,188
JBrowse link
G Fan1 FANCD2 and FANCI associated nuclease 1 ISO Fanconi syndrome OMIA PMID:438041 PMID:619225 PMID:684432 PMID:1270337 PMID:1542263 More... NCBI chr 1:117,915,323...117,945,044
Ensembl chr 1:117,917,099...117,944,977
JBrowse link
G Gatm glycine amidinotransferase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: De Toni-Fanconi syndrome
CTD
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 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: Glycogen storage disease XI ClinVar PMID:1953713 PMID:1959923 PMID:2334430 PMID:3092644 PMID:8327147 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 ClinVar Annotator: match by term: Fanconi-Bickel syndrome
ClinVar Annotator: match by OMIM:227810
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3839598 PMID:6274135 PMID:7564233 PMID:7632512 PMID:8362811 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
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: FRTS1
ClinVar Annotator: match by term: Fanconi renotubular syndrome 1
OMIM
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29654216 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:20335586 PMID:25741868 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: Fanconi renotubular syndrome 3 OMIM
ClinVar
PMID:1627757 PMID:24401050 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: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young OMIM
ClinVar
PMID:20164212 PMID:22802087 PMID:24285859 PMID:25741868 PMID:25819479 More... NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
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 5:24,147,712...24,171,981
Ensembl chr 5:24,147,735...24,171,951
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    syndrome 8170
      Fanconi syndrome 10
        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 17286
    disease of anatomical entity 16621
      Urogenital Diseases 4388
        urinary system disease 2157
          kidney disease 1938
            renal tubular transport disease 93
              Fanconi syndrome 10
                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