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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:Vitamin D Deficiency
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Accession:DOID:9006359 term browser browse the term
Definition:A nutritional condition produced by a deficiency of VITAMIN D in the diet, insufficient production of vitamin D in the skin, inadequate absorption of vitamin D from the diet, or abnormal conversion of vitamin D to its bioactive metabolites. It is manifested clinically as RICKETS in children and OSTEOMALACIA in adults. (From Cecil Textbook of Medicine, 19th ed, p1406)
Synonyms:exact_synonym: Vitamin D Deficiencies
 primary_id: MESH:D014808
 xref: EFO:0003762


show annotations for term's descendants           Sort by:
Vitamin D Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bglap bone gamma-carboxyglutamate protein IDA RGD PMID:3105848 RGD:6483561 NCBI chr 2:176,136,341...176,137,318
Ensembl chr 2:176,136,341...176,137,318 		JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 susceptibility ISO associated with Diabetes, Gestational;DNA:polymorphism:promoter:g.-1260C>A RGD PMID:18476984 RGD:2307310 NCBI chr 7:64,756,626...64,761,570
Ensembl chr 7:64,756,626...64,761,570 		JBrowse link
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 ISO DNA:SNP:CDS: rs12794714|rs10766197 (human)
DNA:SNP:CDS:rs12794714 (human) 		RGD PMID:34906413 PMID:31814925 RGD:401900724, RGD:401901168 NCBI chr 1:178,166,984...178,232,191
Ensembl chr 1:178,219,704...178,232,423 		JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO DNA:SNP:CDS:rs12785878 (human) RGD PMID:31814925 RGD:401901168 NCBI chr 1:208,444,434...208,460,408
Ensembl chr 1:208,444,434...208,461,382 		JBrowse link
G Gc GC, vitamin D binding protein ISO DNA:SNP:CDS:rs2282679) (human) RGD PMID:31814925 RGD:401901168 NCBI chr14:18,916,255...18,951,670
Ensembl chr14:18,916,246...18,951,673 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10052453 NCBI chr 3:74,597,148...74,754,535
Ensembl chr 3:74,597,148...74,754,535 		JBrowse link
G Nadsyn1 NAD synthetase 1 susceptibility ISO DNA:SNP: :rs10898191(human) RGD PMID:22785457 RGD:11251488 NCBI chr 1:198,981,559...199,009,853
Ensembl chr 1:208,410,914...208,439,207 		JBrowse link
G Nr4a2 nuclear receptor subfamily 4, group A, member 2 IEP RGD PMID:28365874 RGD:124713570 NCBI chr 3:62,098,739...62,115,926
Ensembl chr 3:62,098,743...62,106,769 		JBrowse link
G Retn resistin IEP mRNA:increased expression:liver RGD PMID:21994008 RGD:7207230 NCBI chr12:6,508,653...6,511,115
Ensembl chr12:6,508,801...6,511,116 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO associated with obesity;protein:increased expression:serum: RGD PMID:22677566 RGD:7241033 NCBI chr 2:206,723,050...206,742,783
Ensembl chr 2:206,723,044...206,742,801 		JBrowse link
G Vdr vitamin D receptor susceptibility ISO CTD Direct Evidence: marker/mechanism
associated with nonalcoholic fatty liver disease; DNA:SNP: :rs2228570(human) 		CTD
RGD		 PMID:9525346 PMID:30683615 RGD:14401752 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757 		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
ISS 		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: 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 chr 4:161,600,439...161,609,991
Ensembl chr 4:161,600,383...161,609,991 		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 chr  X:41,422,561...41,671,226
Ensembl chr  X:41,426,101...41,671,226 		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 ISS
ISO 		OMIM:241520 | OMIM:613312
ClinVar Annotator: match by term: DMP1-related condition | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive 		MouseDO
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr14:5,833,111...5,867,154
Ensembl chr14:5,833,111...5,843,993 		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 chr 1:22,518,051...22,583,044
Ensembl chr 1:22,518,069...22,583,044 		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 chr  X:17,857,260...18,011,844
Ensembl chr  X:17,857,260...18,011,844 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO 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:41,422,561...41,671,226
Ensembl chr  X:41,426,101...41,671,226 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chr17:78,238,747...78,255,645
Ensembl chr17:78,238,747...78,255,645 		JBrowse link
G Prss1 serine protease 1 ISO ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:71,331,246...71,334,452 		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 chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757 		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 chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO
ISS 		OMIM:241530
DNA:deletions, snps:multiple (human) 		MouseDO
RGD		 PMID:19570882 PMID:16358215 RGD:7242924, RGD:7242925 NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,224,010...9,238,983 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2983203 PMID:9536098 PMID:16199547 PMID:16358214 PMID:16358215 More... NCBI chr 3:28,442,455...28,447,997
Ensembl chr 3:28,442,457...28,447,997 		JBrowse link
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: Hypophosphatemia, vitamin D-resistant rickets ClinVar PMID:9734595 PMID:10469281 PMID:16822791 PMID:16861240 PMID:22876375 More... NCBI chr  X:17,857,260...18,011,844
Ensembl chr  X:17,857,260...18,011,844 		JBrowse link
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:24033266 PMID:25741868 PMID:35738466 NCBI chr14:5,833,111...5,867,154
Ensembl chr14:5,833,111...5,843,993 		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 chr 1:22,518,051...22,583,044
Ensembl chr 1:22,518,069...22,583,044 		JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO RGD PMID:22615579 RGD:11558021 NCBI chr12:15,826,864...15,885,423
Ensembl chr12:20,940,654...20,998,318 		JBrowse link
G Fgf23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar
RGD		 PMID:11062477 PMID:11409890 PMID:11737582 PMID:11805436 PMID:12050201 More... RGD:10044208 NCBI chr 4:161,600,439...161,609,991
Ensembl chr 4:161,600,383...161,609,991 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 PMID:35738466 NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:205,725,975...205,729,590 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 PMID:35738466 NCBI chr 1:205,729,402...205,744,754
Ensembl chr 1:205,729,409...205,744,759 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO ClinVar Annotator: match by term: HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets | ClinVar Annotator: match by term: Hypophosphatemic rickets
ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS | 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 chr  X:41,422,561...41,671,226
Ensembl chr  X:41,426,101...41,671,226 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chr17:78,238,747...78,255,645
Ensembl chr17:78,238,747...78,255,645 		JBrowse link
G Prss1 serine protease 1 ISO ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:71,331,246...71,334,452 		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 chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757 		JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:31959358 NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:83,718,914...83,900,286 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:16294270 PMID:17033621 PMID:17033625 More... NCBI chr14:5,833,111...5,867,154
Ensembl chr14:5,833,111...5,843,993 		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 susceptibility ISO 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:8960499 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 More... RGD:6906930, RGD:6906931 NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:22,518,069...22,583,044 		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 chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
G Mepe matrix extracellular phosphoglycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11414762 NCBI chr14:5,725,308...5,736,858
Ensembl chr14:5,725,175...5,736,996 		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
CTD Direct Evidence: marker/mechanism
DNA:deletion, snps, missense mutations:multiple (human) 		OMIM
ClinVar
CTD
RGD		 PMID:2020859 PMID:9536098 PMID:12868469 PMID:14564151 PMID:17576681 More... RGD:11560486 NCBI chr12:15,826,864...15,885,423
Ensembl chr12:20,940,654...20,998,318 		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 chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034 		JBrowse link
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 chr11:77,738,398...77,813,639
Ensembl chr11:77,740,614...77,810,167 		JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO
ISS 		vitamin D-dependent rickets type I, OMIM:264700;DNA:missense mutations: :R107H, G125E, R335P, P382S
CTD Direct Evidence: marker/mechanism 		MouseDO
CTD
RGD		 PMID:16494812 PMID:9486994 PMID:11416220 RGD:1600874, RGD:734871 NCBI chr 7:64,756,626...64,761,570
Ensembl chr 7:64,756,626...64,761,570 		JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISS OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785 MouseDO NCBI chr12:15,826,864...15,885,423
Ensembl chr12:20,940,654...20,998,318 		JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chr 8:119,572,295...119,597,405
Ensembl chr 8:119,575,868...119,598,108 		JBrowse link
G Vdr vitamin D receptor ISO
ISS 		VDDR II,OMIM:277440;DNA:point mutation:exon:p.G33D, p.R70G (human)
ClinVar Annotator: match by term: Rickets
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
RGD		 PMID:1338926 PMID:8392085 PMID:17451081 PMID:22145479 PMID:22466564 More... RGD:1624354 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757 		JBrowse link
vitamin D-dependent rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets ClinVar NCBI chr 7:64,756,626...64,761,570
Ensembl chr 7:64,756,626...64,761,570 		JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757 		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 Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 treatment ISO
IMP 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD
RGD		 PMID:9415400 PMID:9486994 PMID:9536098 PMID:9837822 PMID:10518789 More... RGD:32716373 NCBI chr 7:64,756,626...64,761,570
Ensembl chr 7:64,756,626...64,761,570 		JBrowse link
G Cyp27b1em1Thka cytochrome P450, family 27, subfamily b, polypeptide 1; CRISPR/Cas9 induced mutant 1, Thka treatment IMP RGD PMID:32231239 RGD:32716373
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 ISO ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 ClinVar PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:25741868 More... NCBI chr 1:178,166,984...178,232,191
Ensembl chr 1:178,219,704...178,232,423 		JBrowse link
G Pde3b phosphodiesterase 3B ISO ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 ClinVar PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:25741868 More... NCBI chr 1:178,041,207...178,204,503
Ensembl chr 1:178,041,207...178,204,503 		JBrowse link
G Ppp1cb protein phosphatase 1 catalytic subunit beta ISO ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 ClinVar PMID:25741868 PMID:25741869 PMID:25944380 PMID:27264673 PMID:27681385 More... NCBI chr 6:29,681,099...29,712,835
Ensembl chr 6:29,681,100...29,712,924 		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 Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 ISO ClinVar Annotator: match by term: CYP2R1-related condition | ClinVar Annotator: match by term: Vitamin D hydroxylation-deficient rickets, type 1B
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8201479 PMID:10969262 PMID:15128933 PMID:16199547 PMID:16549493 More... NCBI chr 1:178,166,984...178,232,191
Ensembl chr 1:178,219,704...178,232,423 		JBrowse link
G Pde3b phosphodiesterase 3B ISO ClinVar Annotator: match by term: CYP2R1-related condition | ClinVar Annotator: match by term: Vitamin D hydroxylation-deficient rickets, type 1B ClinVar PMID:8201479 PMID:10969262 PMID:15128933 PMID:16199547 PMID:16549493 More... NCBI chr 1:178,041,207...178,204,503
Ensembl chr 1:178,041,207...178,204,503 		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 Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chr17:78,238,747...78,255,645
Ensembl chr17:78,238,747...78,255,645 		JBrowse link
G Prss1 serine protease 1 ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 2A ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:71,331,246...71,334,452 		JBrowse link
G Vdr vitamin D receptor treatment ISO
IMP 		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: RICKETS-ALOPECIA SYNDROME | ClinVar Annotator: match by term: VDR-related condition | 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
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:
DNA:missense mutation:cds:P.K45E(human)
DNA:missense mutations,nonsense mutation:exon,splice junction: 		OMIM
ClinVar
CTD
RGD		 PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... RGD:32716373, RGD:13432060, RGD:13210792, RGD:13210780, RGD:13210778, RGD:8158074 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757 		JBrowse link
G Vdrem1Thka vitamin D receptor; CRISPR/Cas9 induced mutant 1, Thka treatment IMP RGD PMID:32231239 RGD:32716373
G Vdrem2Thka vitamin D receptor; CRISPR/Cas9 induced mutant 2, Thka treatment IMP compared to untreated vdr KO RGD PMID:32231239 RGD:32716373
VITAMIN D-DEPENDENT RICKETS, TYPE 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 3 OMIM
ClinVar		 PMID:25741868 PMID:29461981 NCBI chr12:14,321,771...14,343,886
Ensembl chr12:14,321,771...14,343,857 		JBrowse link
X-linked 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 chr 2:176,136,341...176,137,318
Ensembl chr 2:176,136,341...176,137,318 		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:22876375 More... NCBI chr  X:17,857,260...18,011,844
Ensembl chr  X:17,857,260...18,011,844 		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 chr12:20,940,654...20,998,318 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO
ISS 		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:
DNA:deletion,mutations:exon,splice junction: 		OMIM
ClinVar
MouseDO
RGD		 PMID:188828 PMID:2589938 PMID:3394683 PMID:7550339 PMID:9097956 More... RGD:7207229, RGD:11556248, RGD:11556247, RGD:11556246 NCBI chr  X:41,422,561...41,671,226
Ensembl chr  X:41,426,101...41,671,226 		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:9328929 PMID:9734595 More... NCBI chr  X:17,857,260...18,011,844
Ensembl chr  X:17,857,260...18,011,844 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      nutrition disease 1037
        Malnutrition 287
          nutritional deficiency disease 267
            Avitaminosis 223
              Vitamin D Deficiency 40
                rickets + 31
Path 2
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        acquired metabolic disease 2573
          nutrition disease 1037
            Malnutrition 287
              nutritional deficiency disease 267
                Avitaminosis 223
                  Vitamin D Deficiency 40
                    rickets + 31
paths to the root