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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: UROLITHIASIS, X-LINKED RECESSIVE, TYPE 1 | ClinVar Annotator: match by term: X-linked recessive nephrolithiasis with renal failure OMIM
ClinVar
PMID:8559248 PMID:9602200 PMID:25741868 NCBI chr  X:15,185,353...15,339,977
Ensembl chr  X:15,185,451...15,334,264
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18162
    Nutritional and Metabolic Diseases 6773
      disease of metabolism 6773
        inherited metabolic disorder 4675
          renal tubular transport disease 98
            X-linked nephrolithiasis type I 1
Path 2
Term Annotations click to browse term
  disease 18162
    disease of anatomical entity 17537
      Urogenital Diseases 4709
        urinary system disease 2393
          urolithiasis 64
            nephrolithiasis 47
              calcium oxalate nephrolithiasis 35
                X-linked nephrolithiasis type I 1
paths to the root