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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

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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 ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS, AUTOSOMAL DOMINANT OMIM
ClinVar		 PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 More... NCBI chrNW_004624860:1,478,712...1,486,808
Ensembl chrNW_004624860:1,479,303...1,486,323 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets ClinVar PMID:9199930 PMID:9768674 PMID:10439971 PMID:14564066 PMID:14564077 More... NCBI chrNW_004624829:6,960,740...7,151,752
Ensembl chrNW_004624829:6,960,904...7,151,752 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15960
    Developmental Disease 15901
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15853
        genetic disease 15841
          monogenic disease 9375
            autosomal genetic disease 8705
              autosomal dominant disease 5712
                autosomal dominant hypophosphatemic rickets 2
Path 2
Term Annotations click to browse term
  disease 15960
    Nutritional and Metabolic Diseases 6664
      disease of metabolism 6664
        acquired metabolic disease 2106
          nutrition disease 816
            Malnutrition 297
              nutritional deficiency disease 281
                Avitaminosis 181
                  Vitamin D Deficiency 30
                    rickets 23
                      Hypophosphatemic Rickets 15
                        Familial Hypophosphatemic Rickets 12
                          autosomal dominant hypophosphatemic rickets 2
paths to the root