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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:Familial Hypophosphatemic Rickets
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Accession:DOID:9007505 term browser browse the term
Definition:A hereditary disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and growth retardation. Autosomal and X-linked dominant and recessive variants have been reported.
Synonyms:exact_synonym: HPDR;   HYP;   hereditary hypophosphatemic rickets;   hereditary vitamin D resistant rickets
 primary_id: MESH:D053098
 xref: MIM:PS193100


show annotations for term's descendants           Sort by:
Familial Hypophosphatemic Rickets term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN5 chloride voltage-gated channel 5 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		JBrowse link
G LOC130007784 ATAC-STARR-seq lymphoblastoid silent region 4404 IAGP ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar NCBI chr12:47,904,987...47,905,116 JBrowse link
G PHEX phosphate regulating endopeptidase X-linked EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets		 CTD
ClinVar		 PMID:3414685 PMID:9097956 PMID:9199930 PMID:9430241 PMID:11414762 More... NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713 		JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase IAGP ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chr10:13,277,799...13,300,064
Ensembl chr10:13,277,796...13,302,412 		JBrowse link
G PRSS1 serine protease 1 IAGP ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 7:142,749,472...142,753,072
Ensembl chr 7:142,749,468...142,753,072 		JBrowse link
G PTCHD1-AS PTCHD1 antisense RNA (head to head) IAGP ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets ClinVar PMID:9097956 PMID:9199930 PMID:11468271 PMID:12727977 PMID:18625346 More... NCBI chr  X:22,193,005...23,293,146
Ensembl chr  X:22,191,895...22,235,358 		JBrowse link
G TRB T cell receptor beta locus IAGP ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 7:142,299,011...142,813,287 JBrowse link
G VDR vitamin D receptor IAGP ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
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 IAGP
ISS
EXP		 DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human)
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS, AUTOSOMAL DOMINANT
OMIM:193100
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:526C>T,p.R176W (human)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 More... RGD:1598933, RGD:10044239 NCBI chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712 		JBrowse link
G PHEX phosphate regulating endopeptidase X-linked IAGP ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets ClinVar PMID:9199930 PMID:9768674 PMID:10439971 PMID:14564066 PMID:14564077 More... NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713 		JBrowse link
G PTCHD1-AS PTCHD1 antisense RNA (head to head) IAGP ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets ClinVar PMID:9199930 PMID:9768674 PMID:10439971 PMID:14564066 PMID:14564077 More... NCBI chr  X:22,193,005...23,293,146
Ensembl chr  X:22,191,895...22,235,358 		JBrowse link
autosomal recessive hypophosphatemic rickets term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMP1 dentin matrix acidic phosphoprotein 1 ISS
IAGP		 OMIM:241520 | OMIM:613312
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive		 MouseDO
ClinVar		 NCBI chr 4:87,650,280...87,664,357
Ensembl chr 4:87,650,280...87,664,361 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar PMID:9662402 PMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 More... NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
hereditary hypophosphatemic rickets with hypercalciuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130003098 ATAC-STARR-seq lymphoblastoid silent region 20596 IAGP ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria
ClinVar Annotator: match by term: SLC34A3-related condition		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:137,236,363...137,236,692 JBrowse link
G PTH parathyroid hormone ISO protein:decreased expression:plasma (mouse) RGD PMID:19570882 RGD:7242924 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO
ISS
IAGP		 OMIM:241530
DNA:deletions, snps:multiple (human)		 MouseDO
RGD		 PMID:19570882 PMID:16358215 RGD:7242924, RGD:7242925 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848 		JBrowse link
G SLC34A3 solute carrier family 34 member 3 IAGP
EXP		 ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria
ClinVar Annotator: match by term: SLC34A3-related condition
ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria | ClinVar Annotator: match by term: SLC34A3-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:2983203 PMID:9536098 PMID:16199547 PMID:16358214 PMID:16358215 More... NCBI chr 9:137,229,730...137,236,555
Ensembl chr 9:137,230,757...137,236,555 		JBrowse link
Hypophosphatemic Rickets, Autosomal Recessive, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMP1 dentin matrix acidic phosphoprotein 1 IAGP
EXP		 ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:16199547 PMID:16294270 PMID:17033621 PMID:17033625 More... NCBI chr 4:87,650,280...87,664,357
Ensembl chr 4:87,650,280...87,664,361 		JBrowse link
Hypophosphatemic Rickets, Autosomal Recessive, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP
EXP		 ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.Y901S (human)		 OMIM
ClinVar
CTD
RGD		 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 More... RGD:6906930, RGD:6906931 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
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 1:156,242,184...156,243,317
Ensembl chr 1:156,242,184...156,243,317 		JBrowse link
G CBLL2 Cbl proto-oncogene like 2 IAGP ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets ClinVar PMID:19513579 PMID:25741868 NCBI chr  X:22,272,913...22,274,461
Ensembl chr  X:22,272,913...22,274,461 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP 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:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase IEP mRNA:increased expression:long bone, osteoblast, osteocyte (mouse) RGD PMID:24710520 RGD:11560488 NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772 		JBrowse link
G LOC126863223 CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:22383141-22384340 IAGP ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets ClinVar PMID:19513579 PMID:25741868 NCBI chr  X:22,365,024...22,366,223 JBrowse link
G LOC126863224 CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:22417737-22418936 IAGP ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets ClinVar PMID:19513579 PMID:25741868 NCBI chr  X:22,399,620...22,400,819 JBrowse link
G LOC126863225 CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:22450970-22452169 IAGP ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets ClinVar PMID:19513579 PMID:25741868 NCBI chr  X:22,432,853...22,434,052 JBrowse link
G LOC126863226 P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:22544316-22545515 IAGP ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets ClinVar PMID:19513579 PMID:25741868 NCBI chr  X:22,526,199...22,527,398 JBrowse link
G LOC130068043 ATAC-STARR-seq lymphoblastoid active region 29488 IAGP ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets ClinVar NCBI chr  X:22,192,578...22,192,837 JBrowse link
G PHEX phosphate regulating endopeptidase X-linked IAGP
ISS
ISO		 DNA:deletion,mutations:exon,splice junction:
ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets
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
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:307800
DNA:mutation:exon:p.K496X(mouse)
DNA:deletions:3'UTR,promoter,exons:
DNA:mutations:cds,splice junction:		 ClinVar
MouseDO
OMIM
RGD		 PMID:188828 PMID:2589938 PMID:3394683 PMID:7550339 PMID:9097956 More... RGD:11556246, RGD:7207229, RGD:11556248, RGD:11556247 NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713 		JBrowse link
G PHEX-AS1 PHEX antisense RNA 1 IAGP ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets
ClinVar Annotator: match by term: PHEX-related condition		 ClinVar PMID:9097956 PMID:9106524 PMID:9536098 PMID:9768674 PMID:10737991 More... NCBI chr  X:22,162,732...22,172,983
Ensembl chr  X:22,162,728...23,333,685 		JBrowse link
G PTCHD1-AS PTCHD1 antisense RNA (head to head) IAGP ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets
ClinVar Annotator: match by term: Vitamin D-resistant rickets, X-linked
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: Familial X-linked hypophosphatemic vitamin D refractory rickets | ClinVar Annotator: match by term: Vitamin D-resistant rickets, X-linked		 ClinVar PMID:188828 PMID:2589938 PMID:9097956 PMID:9106524 PMID:9199930 More... NCBI chr  X:22,193,005...23,293,146
Ensembl chr  X:22,191,895...22,235,358 		JBrowse link
X-linked recessive hypophosphatemic rickets term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN5 chloride voltage-gated channel 5 IAGP ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive OMIM
ClinVar		 PMID:7915957 PMID:8559248 PMID:9187673 PMID:9734595 PMID:11136179 More... NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		JBrowse link
G LOC126863258 BRD4-independent group 4 enhancer GRCh37_chrX:49854497-49855696 IAGP ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive ClinVar PMID:11136179 PMID:15719255 PMID:15895257 PMID:16822791 PMID:18038239 More... NCBI chr  X:50,089,840...50,091,039 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97419
    Nutritional and Metabolic Diseases 13678
      disease of metabolism 13678
        Metabolic Bone Diseases 277
          rickets 38
            Hypophosphatemic Rickets 28
              Familial Hypophosphatemic Rickets 25
                X-linked dominant hypophosphatemic rickets 12
                X-linked recessive hypophosphatemic rickets 2
                autosomal dominant hypophosphatemic rickets 3
                autosomal recessive hypophosphatemic rickets + 2
                hereditary hypophosphatemic rickets with hypercalciuria 4
Path 2
Term Annotations click to browse term
  disease 97419
    Nutritional and Metabolic Diseases 13678
      disease of metabolism 13678
        acquired metabolic disease 4236
          nutrition disease 1730
            Malnutrition 358
              nutritional deficiency disease 341
                Avitaminosis 290
                  Vitamin D Deficiency 74
                    rickets 38
                      Hypophosphatemic Rickets 28
                        Familial Hypophosphatemic Rickets 25
                          X-linked dominant hypophosphatemic rickets 12
                          X-linked recessive hypophosphatemic rickets 2
                          autosomal dominant hypophosphatemic rickets 3
                          autosomal recessive hypophosphatemic rickets + 2
                          hereditary hypophosphatemic rickets with hypercalciuria 4
paths to the root