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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 recessive hypophosphatemic rickets
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Accession:DOID:0080353 term browser browse the term
Definition:A rickets that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11.22. (DO)
Synonyms:primary_id: OMIM:300554
For additional species annotation, visit the Alliance of Genome Resources.



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X-linked recessive hypophosphatemic rickets 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: X-linked recessive hypophosphatemic rickets
ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive
ClinVar
OMIM
PMID:7915957 PMID:8559248 PMID:9187673 PMID:9734595 PMID:15086899 More... 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 17286
    Developmental Disease 10988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9531
        genetic disease 9032
          monogenic disease 7190
            X-linked monogenic disease 1027
              X-linked recessive disease 383
                X-linked recessive hypophosphatemic rickets 1
Path 2
Term Annotations click to browse term
  disease 17286
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        acquired metabolic disease 2898
          nutrition disease 920
            Malnutrition 225
              nutritional deficiency disease 216
                Avitaminosis 121
                  Vitamin D Deficiency 31
                    rickets 26
                      Hypophosphatemic Rickets 13
                        Familial Hypophosphatemic Rickets 13
                          X-linked recessive hypophosphatemic rickets 1
paths to the root