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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:nephronophthisis-like nephropathy 1
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Accession:DOID:0111117 term browser browse the term
Definition:A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2. (DO)
Synonyms:exact_synonym: NPHPL1
 broad_synonym: nephronophthisis-like nephropathy
 primary_id: OMIM:613159
For additional species annotation, visit the Alliance of Genome Resources.



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nephronophthisis-like nephropathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chadl chondroadherin-like ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 ClinVar PMID:28492532 NCBI chr 7:113,205,323...113,218,678
Ensembl chr 7:113,210,748...113,217,272
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 ClinVar PMID:28492532 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
JBrowse link
G L3mbtl2 L3MBTL histone methyl-lysine binding protein 2 ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 ClinVar PMID:28492532 NCBI chr 7:113,186,303...113,209,706
Ensembl chr 7:113,186,370...113,207,489
JBrowse link
G Rangap1 RAN GTPase activating protein 1 ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 ClinVar PMID:28492532 NCBI chr 7:113,224,695...113,250,441
Ensembl chr 7:113,224,703...113,250,438
JBrowse link
G Rbx1 ring-box 1 ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 ClinVar PMID:28492532 NCBI chr 7:112,976,863...113,001,051
Ensembl chr 7:112,990,835...113,001,051
JBrowse link
G Xpnpep3 X-prolyl aminopeptidase 3 ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1
ClinVar Annotator: match by OMIM:613159
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:20179356 PMID:28492532 PMID:32660933 NCBI chr 7:112,926,154...112,978,793
Ensembl chr 7:112,926,248...112,974,878
JBrowse link
G Zc3h7b zinc finger CCCH-type containing 7B ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 ClinVar PMID:28492532 NCBI chr 7:113,262,142...113,310,399
Ensembl chr 7:113,262,165...113,310,399
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      Urogenital Diseases 4388
        urinary system disease 2157
          kidney disease 1938
            cystic kidney disease 225
              nephronophthisis 57
                nephronophthisis-like nephropathy 1 7
Path 2
Term Annotations click to browse term
  disease 17286
    Developmental Disease 10988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9531
        genetic disease 9032
          monogenic disease 7190
            autosomal genetic disease 6338
              autosomal recessive disease 3497
                nephronophthisis 57
                  nephronophthisis-like nephropathy 1 7
paths to the root