JSON

[X] Fanconi renotubular syndrome

Go to external page 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 ]

Synonyms: deToni Fanconi syndrome Fanconi-de toni syndrome Lignac-Fanconi syndrome Fanconi syndrome De toni-debre-Fanconi syndrome De toni-Fanconi syndrome Fanconi's syndrome Fanconi-de-toni syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • NCIT:C3034 (MONDO:equivalentTo)
  • GARD:9120 (MONDO:GARD)
  • SCTID:40488004 (MONDO:equivalentTo)
  • NANDO:2100027 (https://orcid.org/0000-0003-0011-764X)
  • MESH:D005198 (MONDO:equivalentTo)
  • UMLS:C0015624 (MONDO:equivalentTo)
  • SCTID:236466005 (https://orcid.org/0009-0002-1597-2198)
  • NANDO:2200187 (https://orcid.org/0000-0003-0011-764X)
  • MEDGEN:4653 (MONDO:equivalentTo)
  • DOID:1062 (MONDO:equivalentTo)
Subsets

matrix_llm__is_cancer_other, gard_rare, matrix_llm__is_glucose_dysfunction_other, otar, matrix_excluded, matrix_llm__tag_qualy_lost_other, matrix_llm__txgnn_other, matrix_llm__medical_specialization_other, mondo_top_grouping_member, mondo_top_grouping_urinary_system_disorder, nord_rare, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, harrisons_view_urinary_system_disorder, harrisons_view_syndromic_disease, mondo_top_grouping_syndromic_disease

exactMatch

http://purl.obolibrary.org/obo/NCIT_C3034

http://linkedlifedata.com/resource/umls/id/C0015624

http://identifiers.org/medgen/4653

http://identifiers.org/mesh/D005198

http://purl.obolibrary.org/obo/DOID_1062

http://identifiers.org/snomedct/40488004

http://identifiers.org/snomedct/236466005

excluded subClassOf

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

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