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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: NEPHRONOPHTHISIS-LIKE NEPHROPATHY;   NPHPL1
 primary_id: OMIM:613159;   RDO:0009892
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 7:122,915,847...122,929,127
Ensembl chr 7:122,922,022...122,926,336 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 ClinVar PMID:28492532 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296 		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 7:122,896,860...122,918,025
Ensembl chr 7:122,896,871...122,918,036 		JBrowse link
G Rangap1 RAN GTPase activating protein 1 ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 ClinVar PMID:28492532 NCBI chr 7:122,939,266...122,967,178
Ensembl chr 7:122,940,376...122,967,178 		JBrowse link
G Rbx1 ring-box 1 ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 ClinVar PMID:28492532 NCBI chr 7:122,700,849...122,710,907
Ensembl chr 7:122,700,854...122,709,935 		JBrowse link
G Xpnpep3 X-prolyl aminopeptidase 3 ISO ClinVar Annotator: match by OMIM:613159
ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1		 OMIM
ClinVar		 PMID:20179356 PMID:28492532 NCBI chr 7:122,636,252...122,686,983
Ensembl chr 7:122,636,171...122,688,819 		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 7:122,978,999...123,027,166
Ensembl chr 7:122,979,021...123,027,150 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Urogenital Diseases 4146
        urinary system disease 2074
          kidney disease 1860
            nephronophthisis-like nephropathy 1 7
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal recessive disease 2616
                nephronophthisis 44
                  nephronophthisis-like nephropathy 1 7
paths to the root