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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:X-linked nephrolithiasis type I
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Accession:DOID:0111798 term browser browse the term
Definition:A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in CLCN5 on chromosome Xp11.23. (DO)
Synonyms:exact_synonym: NEPHROLITHIASIS, X-LINKED RECESSIVE;   NPHL1;   Nephrolithiasis 1;   Nephrolithiasis, X-Linked Recessive, Type 1;   Urolithiasis, X-Linked Recessive, Type 1;   X-linked nephrolithiasis with renal failure;   X-linked recessive nephrolithiasis with renal failure;   XRN
 primary_id: MESH:C562901
 alt_id: OMIM:310468
For additional species annotation, visit the Alliance of Genome Resources.


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X-linked nephrolithiasis type I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Nephrolithiasis, X-linked recessive
ClinVar Annotator: match by term: X-linked recessive nephrolithiasis with renal failure
OMIM
ClinVar
PMID:8559248 PMID:9602200 PMID:25741868 NCBI chr  X:16,170,585...16,196,691
Ensembl chr  X:16,050,780...16,196,789
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    Nutritional and Metabolic Diseases 5219
      disease of metabolism 5219
        inherited metabolic disorder 2447
          renal tubular transport disease 92
            X-linked nephrolithiasis type I 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      Urogenital Diseases 4205
        urinary system disease 2108
          urolithiasis 63
            nephrolithiasis 47
              calcium oxalate nephrolithiasis 30
                X-linked nephrolithiasis type I 1
paths to the root