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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 dominant hypophosphatemic rickets
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Accession:DOID:0050445 term browser browse the term
Definition:A rickets has_material_basis in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization. (DO)
Synonyms:exact_synonym: FAMILIAL X-LINKED HYPOPHOSPHATEMIC VITAMIN D REFRACTORY RICKETS;   X-linked hypophosphatemia;   X-linked hypophosphatemic rickets;   X-linked vitamin D resistant rickets;   XLH;   XLHR
 alt_id: OMIM:307800
 xref: NCI:C85234
For additional species annotation, visit the Alliance of Genome Resources.



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X-linked dominant hypophosphatemic rickets term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bglap bone gamma-carboxyglutamate protein ISO mRNA:increased expression:long bone RGD PMID:22573557 RGD:7207229 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO mRNA:increased expression:long bone, osteoblast, osteocyte (mouse) RGD PMID:24710520 RGD:11560488 NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543
JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked ISO ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets | ClinVar Annotator: match by term: Vitamin D-resistant rickets, X-linked
DNA:deletion,mutations:exon,splice junction:
DNA:mutations:cds,splice junction:
DNA:deletions:3'UTR,promoter,exons:
DNA:mutation:exon:p.K496X(mouse)
OMIM
ClinVar
RGD
PMID:188828 PMID:3394683 PMID:7550339 PMID:9097956 PMID:9106524 More... RGD:11556246, RGD:11556247, RGD:11556248, RGD:7207229 NCBI chr  X:37,607,553...37,856,183
Ensembl chr  X:37,610,760...37,854,469
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            X-linked monogenic disease 1182
              X-linked dominant disease 154
                X-linked dominant hypophosphatemic rickets 3
Path 2
Term Annotations click to browse term
  disease 18032
    Nutritional and Metabolic Diseases 6730
      disease of metabolism 6730
        acquired metabolic disease 2138
          nutrition disease 1037
            Malnutrition 308
              nutritional deficiency disease 299
                Avitaminosis 195
                  Vitamin D Deficiency 34
                    rickets 29
                      Hypophosphatemic Rickets 16
                        Familial Hypophosphatemic Rickets 13
                          X-linked dominant hypophosphatemic rickets 3
paths to the root