Term info
- GARD:0009120 (MONDO:equivalentTo)
- MESH:D005198 (MONDO:equivalentTo)
- NCIT:C3034 (MONDO:equivalentTo)
- SCTID:40488004 (MONDO:equivalentTo)
- UMLS:C0015624 (NCIT:C3034)
- DOID:1062 (MONDO:equivalentTo)
gard_rare
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.
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
http://purl.obolibrary.org/obo/MONDO_0003847
adult Fanconi Anemia
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
congenital Fanconi syndrome, adult Fanconi syndrome
infantile nephropathic cystinosis, toni-debre-Fanconi syndrome
MONDO:0001083
https://rarediseases.info.nih.gov/diseases/9120/fanconi-syndrome