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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:rickets
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Accession:DOID:10609 term browser browse the term
Definition:A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone. (DO)
Synonyms:exact_synonym: active rickets;   rachitides;   rachitis;   vitamin D hydroxylation-deficient rickets
 primary_id: MESH:D012279
 xref: EFO:0005583;   GARD:5700;   ICD10CM:E55.0;   NCI:C26878;   ORDO:289157
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium sensing receptor ISO RGD PMID:12671052 RGD:734698 NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454 		JBrowse link
G Fam20c FAM20C golgi associated secretory pathway kinase ISO OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785 MouseDO NCBI chrNW_004936754:596,878...649,585
Ensembl chrNW_004936754:596,872...653,098 		JBrowse link
G LOC101978323 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial ISO OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785
CTD Direct Evidence: marker/mechanism
vitamin D-dependent rickets type I, OMIM:264700;DNA:missense mutations: :R107H, G125E, R335P, P382S		 RGD
MouseDO
CTD		 PMID:9486994 PMID:11416220 PMID:16494812 RGD:1600874 RGD:734871 NCBI chrNW_004936646:1,899,686...1,904,104
Ensembl chrNW_004936646:1,900,259...1,904,104 		JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chrNW_004936596:674,088...693,191
Ensembl chrNW_004936596:674,088...693,213 		JBrowse link
G Vdr vitamin D receptor ISO CTD Direct Evidence: marker/mechanism
OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785
VDDR II,OMIM:277440;DNA:point mutation:exon:p.G33D, p.R70G (human)		 CTD
MouseDO
RGD		 PMID:1338926 PMID:2849209 PMID:17451081 PMID:22466564 RGD:1624354 NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109 		JBrowse link
autosomal dominant hypophosphatemic rickets term browser
Symbol Object Name Qualifiers 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_004936606:4,555,034...4,561,961
Ensembl chrNW_004936606:4,555,034...4,561,961 		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_004936624:2,124,479...2,312,847
Ensembl chrNW_004936624:2,126,253...2,312,847 		JBrowse link
autosomal recessive hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar NCBI chrNW_004936905:419,478...427,335
Ensembl chrNW_004936905:420,354...427,324 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar PMID:9662402 PMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 More... NCBI chrNW_004937067:194,375...246,607 JBrowse link
Familial Hypophosphatemic Rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936721:1,552,312...1,602,360
Ensembl chrNW_004936721:1,445,779...1,596,814 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets ClinVar PMID:9097956 PMID:9199930 PMID:11468271 PMID:12727977 PMID:18625346 More... NCBI chrNW_004936624:2,124,479...2,312,847
Ensembl chrNW_004936624:2,126,253...2,312,847 		JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets | ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109 		JBrowse link
hereditary hypophosphatemic rickets with hypercalciuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth parathyroid hormone ISO protein:decreased expression:plasma (mouse) RGD PMID:19570882 RGD:7242924 NCBI chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO OMIM:241530
DNA:deletions, snps:multiple (human)		 RGD
MouseDO		 PMID:16358215 PMID:19570882 RGD:7242924 RGD:7242925 NCBI chrNW_004936597:1,667,700...1,684,533
Ensembl chrNW_004936597:1,667,569...1,684,539 		JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria | ClinVar Annotator: match by term: SLC34A3-related condition OMIM
ClinVar		 PMID:2983203 PMID:9536098 PMID:16199547 PMID:16358214 PMID:16358215 More... NCBI chrNW_004936669:755,091...760,365
Ensembl chrNW_004936669:755,528...760,522 		JBrowse link
Hypophosphatemic Rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:24033266 PMID:25741868 PMID:35738466 NCBI chrNW_004936905:419,478...427,335
Ensembl chrNW_004936905:420,354...427,324 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:10480624 PMID:11739459 PMID:12881724 PMID:14671192 PMID:14988267 More... NCBI chrNW_004937067:194,375...246,607 JBrowse link
G Fam20c FAM20C golgi associated secretory pathway kinase ISO RGD PMID:22615579 RGD:11558021 NCBI chrNW_004936754:596,878...649,585
Ensembl chrNW_004936754:596,872...653,098 		JBrowse link
G Fgf23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:11062477 PMID:11409890 PMID:11737582 PMID:11805436 PMID:12050201 More... NCBI chrNW_004936606:4,555,034...4,561,961
Ensembl chrNW_004936606:4,555,034...4,561,961 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 PMID:35738466 NCBI chrNW_004936888:375,372...378,125
Ensembl chrNW_004936888:375,377...377,958 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 PMID:35738466 NCBI chrNW_004936888:379,622...397,647
Ensembl chrNW_004936888:382,062...402,083 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets | ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:9097956 PMID:9106524 PMID:9199930 PMID:9768674 PMID:10737991 More... NCBI chrNW_004936624:2,124,479...2,312,847
Ensembl chrNW_004936624:2,126,253...2,312,847 		JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets ClinVar PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109 		JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:31959358 NCBI chrNW_004936471:15,233,828...15,416,415
Ensembl chrNW_004936471:15,233,840...15,416,415 		JBrowse link
Hypophosphatemic Rickets, Autosomal Recessive, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 1 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16294270 PMID:17033621 PMID:17033625 More... NCBI chrNW_004936905:419,478...427,335
Ensembl chrNW_004936905:420,354...427,324 		JBrowse link
Hypophosphatemic Rickets, Autosomal Recessive, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2 ClinVar
OMIM		 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 More... NCBI chrNW_004937067:194,375...246,607 JBrowse link
osteomalacia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO protein:increased expression:cortical bone, trabecular bone (mouse) RGD PMID:11159866 RGD:7794797 NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231 		JBrowse link
G Mepe matrix extracellular phosphoglycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11414762 NCBI chrNW_004936905:284,849...297,297 JBrowse link
Raine Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20c FAM20C golgi associated secretory pathway kinase ISO ClinVar Annotator: match by term: FAM20C-related condition | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia OMIM
ClinVar		 PMID:2020859 PMID:12868469 PMID:14564151 PMID:17924334 PMID:19250384 More... NCBI chrNW_004936754:596,878...649,585
Ensembl chrNW_004936754:596,872...653,098 		JBrowse link
renal osteodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth parathyroid hormone ISO associated with Kidney Failure, Chronic; protein:decreased expression:serum (human) RGD PMID:18480316 RGD:7242687 NCBI chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030 		JBrowse link
vitamin D-dependent rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101978323 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets ClinVar NCBI chrNW_004936646:1,899,686...1,904,104
Ensembl chrNW_004936646:1,900,259...1,904,104 		JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109 		JBrowse link
vitamin D-dependent rickets type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101972957 vitamin D 25-hydroxylase ISO ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 ClinVar PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:25741868 More... NCBI chrNW_004936528:3,881,630...3,897,613
Ensembl chrNW_004936528:3,881,087...3,900,302 		JBrowse link
G LOC101978323 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial treatment ISO ClinVar Annotator: match by term: CYP27B1-related condition | ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 1A OMIM
ClinVar
RGD		 PMID:9415400 PMID:9486994 PMID:9837822 PMID:10518789 PMID:10566658 More... RGD:32716373 NCBI chrNW_004936646:1,899,686...1,904,104
Ensembl chrNW_004936646:1,900,259...1,904,104 		JBrowse link
vitamin D-dependent rickets type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101972957 vitamin D 25-hydroxylase ISO ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1B | ClinVar Annotator: match by term: Vitamin D hydroxylation-deficient rickets, type 1B OMIM
ClinVar		 PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:22855339 More... NCBI chrNW_004936528:3,881,630...3,897,613
Ensembl chrNW_004936528:3,881,087...3,900,302 		JBrowse link
vitamin D-dependent rickets type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vdr vitamin D receptor treatment ISO ClinVar Annotator: match by term: GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D | ClinVar Annotator: match by term: PDDR IIA | ClinVar Annotator: match by term: PSEUDOVITAMIN D-DEFICIENCY, TYPE IIA | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 2A OMIM
ClinVar
RGD		 PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... RGD:13432060 RGD:32716373 NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109 		JBrowse link
X-linked dominant hypophosphatemic rickets term browser
Symbol Object Name Qualifiers 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 chrNW_004936580:5,480,023...5,482,288
Ensembl chrNW_004936580:5,481,355...5,482,155 		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 chrNW_004936754:596,878...649,585
Ensembl chrNW_004936754:596,872...653,098 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO 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
ClinVar		 PMID:188828 PMID:2589938 PMID:3394683 PMID:7550339 PMID:9097956 More... NCBI chrNW_004936624:2,124,479...2,312,847
Ensembl chrNW_004936624:2,126,253...2,312,847 		JBrowse link
X-linked recessive hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive OMIM
ClinVar		 PMID:7915957 PMID:8559248 PMID:9187673 PMID:9734595 PMID:11136179 More... NCBI chrNW_004936721:1,552,312...1,602,360
Ensembl chrNW_004936721:1,445,779...1,596,814 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14500
    Nutritional and Metabolic Diseases 6791
      disease of metabolism 6791
        Metabolic Bone Diseases 187
          rickets 20
            Hypophosphatemic Rickets + 14
            osteomalacia + 3
            renal osteodystrophy 1
            vitamin D-dependent rickets + 3
Path 2
Term Annotations click to browse term
  disease 14500
    Nutritional and Metabolic Diseases 6791
      disease of metabolism 6791
        acquired metabolic disease 2090
          nutrition disease 773
            Malnutrition 234
              nutritional deficiency disease 219
                Avitaminosis 183
                  Vitamin D Deficiency 27
                    rickets 20
                      Hypophosphatemic Rickets + 14
                      osteomalacia + 3
                      renal osteodystrophy 1
                      vitamin D-dependent rickets + 3
paths to the root