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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
PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 PMID:11737582 PMID:11805436 PMID:12050201 PMID:12130585 PMID:12711740 PMID:12851820 PMID:12874285 PMID:15182416 PMID:15590700 PMID:15628294 PMID:15836777 PMID:15885032 PMID:16436388 PMID:17227222 PMID:17452648 PMID:17623664 PMID:17992255 PMID:18682534 PMID:18982401 PMID:21880793 PMID:22419710 PMID:24033266 PMID:25445451 PMID:26186302 PMID:26467025 PMID:28492532, PMID:11062477, PMID:19655082 RGD:1598933, RGD:10044239 NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal dominant disease 3058
                autosomal dominant hypophosphatemic rickets 1
Path 2
Term Annotations click to browse term
  disease 16085
    Nutritional and Metabolic Diseases 4739
      disease of metabolism 4739
        acquired metabolic disease 2786
          nutrition disease 921
            Malnutrition 202
              nutritional deficiency disease 192
                Avitaminosis 112
                  Vitamin D Deficiency 24
                    rickets 20
                      Hypophosphatemic Rickets 12
                        Familial Hypophosphatemic Rickets 12
                          autosomal dominant hypophosphatemic rickets 1
paths to the root