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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: MIM:300554


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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: Hypophosphatemic rickets, X-linked recessive OMIM
ClinVar		 PMID:7915957 PMID:8559248 PMID:9187673 PMID:9734595 PMID:11136179 More... NCBI chr  X:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          monogenic disease 10822
            X-linked monogenic disease 1452
              X-linked recessive disease 870
                X-linked recessive hypophosphatemic rickets 1
Path 2
Term Annotations click to browse term
  disease 19099
    Nutritional and Metabolic Diseases 8520
      disease of metabolism 8520
        acquired metabolic disease 2529
          nutrition disease 1026
            Malnutrition 278
              nutritional deficiency disease 261
                Avitaminosis 218
                  Vitamin D Deficiency 39
                    rickets 30
                      Hypophosphatemic Rickets 16
                        Familial Hypophosphatemic Rickets 13
                          X-linked recessive hypophosphatemic rickets 1
paths to the root