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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:autosomal dominant hypophosphatemic rickets
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Accession:DOID:0050948 term browser browse the term
Definition:A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance. (DO)
Synonyms:exact_synonym: ADHR;   autosomal dominant hypophosphatemia;   hypophosphatemic rickets, dominant;   vitamin D-resistant rickets, autosomal dominant
 primary_id: MESH:C562791
 alt_id: OMIM:193100
For additional species annotation, visit the Alliance of Genome Resources.



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autosomal dominant hypophosphatemic rickets term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf23 fibroblast growth factor 23 ISO DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human)
ClinVar Annotator: match by OMIM:193100
DNA:missense mutation:cds:526C>T,p.R176W (human)
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets
OMIM
ClinVar
RGD
PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 More... RGD:1598933, RGD:10044239 NCBI chr 4:159,914,393...159,922,073
Ensembl chr 4:159,914,272...159,923,821
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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
            autosomal genetic disease 6338
              autosomal dominant disease 4492
                autosomal dominant 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
                          autosomal dominant hypophosphatemic rickets 1
paths to the root