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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;   PHEX-RELATED CONDITION;   X-linked hypophosphatemia;   X-linked hypophosphatemic rickets;   X-linked vitamin D resistant rickets;   XLH;   XLHR
 alt_id: MIM:307800
 xref: NCI:C85234



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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 2:176,136,341...176,137,318
Ensembl chr 2:173,838,518...173,839,495
JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets ClinVar PMID:9734595 PMID:10469281 PMID:16822791 PMID:16861240 PMID:24081861 More... NCBI chr  X:17,857,260...18,011,844
Ensembl chr  X:15,185,451...15,334,264
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 chr12:20,940,654...20,999,072
Ensembl chr12:15,826,871...15,884,543
JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO
ISS
DNA:deletion,mutations:exon,splice junction:
DNA:mutations:cds,splice junction:
DNA:deletions:3'UTR,promoter,exons:
DNA:mutation:exon:p.K496X(mouse)
OMIM:307800
ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets | ClinVar Annotator: match by term: PHEX-related condition | ClinVar Annotator: match by term: Vitamin D-resistant rickets, X-linked
OMIM
MouseDO
ClinVar
RGD
PMID:188828 PMID:2589938 PMID:3394683 PMID:7550339 PMID:9097956 More... RGD:11556246, RGD:11556247, RGD:11556248, RGD:7207229 NCBI chr  X:41,422,561...41,671,226
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 19141
    Developmental Disease 14667
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13715
        genetic disease 13381
          monogenic disease 10935
            X-linked monogenic disease 1456
              X-linked dominant disease 250
                X-linked dominant hypophosphatemic rickets 4
Path 2
Term Annotations click to browse term
  disease 19141
    Nutritional and Metabolic Diseases 8542
      disease of metabolism 8542
        acquired metabolic disease 2539
          nutrition disease 1032
            Malnutrition 280
              nutritional deficiency disease 263
                Avitaminosis 219
                  Vitamin D Deficiency 39
                    rickets 30
                      Hypophosphatemic Rickets 16
                        Familial Hypophosphatemic Rickets 13
                          X-linked dominant hypophosphatemic rickets 4
paths to the root