JSON

Fanconi renotubular syndrome

^ http://purl.obolibrary.org/obo/MONDO_0001083


A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients. [ NCIT:C3034 ]

Term info

database cross reference
  • NCIT:C3034 (MONDO:equivalentTo)
  • DOID:1062 (MONDO:equivalentTo)
  • UMLS:C0015624 (NCIT:C3034)
  • SCTID:40488004 (MONDO:equivalentTo)
  • GARD:0009120 (MONDO:equivalentTo)
  • MESH:D005198 (MONDO:equivalentTo)
Subsets

gard_rare

definition

A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0015624, http://purl.obolibrary.org/obo/NCIT_C3034, http://purl.obolibrary.org/obo/DOID_1062, http://identifiers.org/mesh/D005198, http://identifiers.org/snomedct/40488004

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0003847

excluded synonym

adult Fanconi Anemia

has exact synonym

deToni Fanconi syndrome, Fanconi-de toni syndrome, Lignac-Fanconi syndrome, Fanconi syndrome, De toni-Fanconi syndrome, De toni-debre-Fanconi syndrome, Fanconi's syndrome, Fanconi-de-toni syndrome

has narrow synonym

congenital Fanconi syndrome, adult Fanconi syndrome

has related synonym

infantile nephropathic cystinosis, toni-debre-Fanconi syndrome

id

MONDO:0001083

seeAlso

https://rarediseases.info.nih.gov/diseases/9120/fanconi-syndrome