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 ]
Synonyms: 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
Term information
- MEDGEN:4653 (MONDO:equivalentTo)
- NANDO:2200187 (https://orcid.org/0000-0003-0011-764X)
- UMLS:C0015624 (MONDO:equivalentTo)
- DOID:1062 (MONDO:equivalentTo)
- NCIT:C3034 (MONDO:equivalentTo)
- SCTID:40488004 (MONDO:equivalentTo)
- MESH:D005198 (MONDO:equivalentTo)
- GARD:9120 (MONDO:GARD)
- NANDO:2100027 (https://orcid.org/0000-0003-0011-764X)
gard_rare, otar, rare, nord_rare
http://linkedlifedata.com/resource/umls/id/C0015624
http://purl.obolibrary.org/obo/NCIT_C3034
http://identifiers.org/medgen/4653
http://purl.obolibrary.org/obo/DOID_1062
http://identifiers.org/mesh/D005198
http://identifiers.org/snomedct/40488004