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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:karyomegalic interstitial nephritis
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Accession:DOID:0060911 term browser browse the term
Definition:An interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has_material_basis_in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3. (DO)
Synonyms:exact_synonym: KIN;   KMIN
 primary_id: OMIM:614817
 xref: GARD:11003;   ICD10CM:N11.8;   ORDO:401996
For additional species annotation, visit the Alliance of Genome Resources.


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karyomegalic interstitial nephritis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fan1 FANCD2 and FANCI associated nuclease 1 ISO ClinVar Annotator: match by OMIM:614817
ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by term: Interstitial nephritis, karyomegalic
OMIM
ClinVar
PMID:7847351, PMID:8546134, PMID:16678356, PMID:17304531, PMID:20621605, PMID:22772369, PMID:25741868, PMID:28492532, PMID:29590070 NCBI chr 1:125,182,117...125,209,772
Ensembl chr 1:125,181,838...125,209,727
JBrowse link
G Mtmr10 myotubularin related protein 10 ISO ClinVar Annotator: match by term: Interstitial nephritis, karyomegalic ClinVar PMID:7847351, PMID:16678356, PMID:17304531, PMID:20621605, PMID:22772369, PMID:25741868 NCBI chr 1:125,124,743...125,175,857
Ensembl chr 1:125,124,743...125,175,857
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Immune & Inflammatory Diseases 3506
        Inflammation 2164
          nephritis 421
            interstitial nephritis 41
              karyomegalic interstitial nephritis 2
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                karyomegalic interstitial nephritis 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.