Karyomegalic Interstitial Nephritis

Preferred Label : Karyomegalic Interstitial Nephritis;

NCIt synonyms : KIN; KMIN;

NCIt definition : An autosomal recessive condition causes by mutation(s) in the FAN1 gene, encoding Fanconi-associated nuclease 1. It is characterized by renal failure, interstitial fibrosis, glomerular sclerosis, and atrophic tubules.;

Details

Origin ID

C173626;

UMLS CUI

C3553774;

Automatic exact mappings (from CISMeF team)
- Interstitial nephritis, karyomegalic [OMIM Phenotype]
- Karyomegalic interstitial nephritis [ORDO Disease]
- Karyomegalic interstitial nephritis (disorder) [SNOMED CT concept]
- Kin17 dna- and rna-binding protein [OMIM gene]
- karyomegalic interstitial nephritis [DO Concept]
Has associated anatomic sites
- Genitourinary System [NCIt concept]
- Kidney [NCIt concept]
- Urinary System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Interstitial nephritis, karyomegalic [OMIM Phenotype]
- Karyomegalic interstitial nephritis (disorder) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Genitourinary System [NCIt concept]
- Kidney [NCIt concept]
- Urinary System [NCIt concept]
disease_mapped_to_gene
- FAN1 Gene [NCIt concept]
related_to_genetic_biomarker
- FAN1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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