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PedAM

Pediatric Disease Annotations & Medicines



   primary fanconi syndrome
  

Disease ID 1617
Disease primary fanconi syndrome
Definition
constellation of clinical and laboratory manifestations produced by generalized proximal tubular insufficiency in the presence of normal, or nearly normal, glomerular filtration.
Synonym
congenital fanconi syndrome
congenital fanconi syndrome (disorder)
de toni-debre-fanconi syndrome
de toni-fanconi syndrome
detoni fanconi syndrome
fanconi-de toni syndrome
fanconi-de toni-debre syndrome
fanconi-de toni-debre syndrome (disorder)
fanconi-de-toni syndrome
hepatic glycogenosis with de toni-debre-fanconi syndrome
hepatic glycogenosis with de toni-debré-fanconi syndrome
idiopathic de toni-debre-fanconi syndrome
neonatal de toni-debre-fanconi syndrome
primary toni-debre-fanconi syndrome
toni-debre-fanconi syndrome
Orphanet
DOID
UMLS
C1857395
SNOMED-CT
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:2)
EHHADH  |  1962  |  ORPHANET
SLC34A1  |  6569  |  ORPHANET
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus
Symbol | Locus(Total Locus:2)
SLC34A1  |  5q35.3
EHHADH  |  3q27.2
Disease ID 1617
Disease primary fanconi syndrome
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype(Waiting for update.)
Disease ID 1617
Disease primary fanconi syndrome
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Chemical(Total Drugs:0)
(Waiting for update.)
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)