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Vitamin D Deficiency - Ontology Report - Rat Genome Database

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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

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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 ISO RGD PMID:3105848 RGD:6483561 NCBI chrNW_004624885:1,526,625...1,528,235
Ensembl chrNW_004624885:1,527,538...1,528,109 		JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO DNA:SNP:CDS:rs12785878 (human) RGD PMID:31814925 RGD:401901168 NCBI chrNW_004624767:16,118,157...16,132,225
Ensembl chrNW_004624767:16,118,052...16,132,834 		JBrowse link
G Gc GC vitamin D binding protein ISO DNA:SNP:CDS:rs2282679) (human) RGD PMID:31814925 RGD:401901168 NCBI chrNW_004624890:3,274,239...3,318,281
Ensembl chrNW_004624890:3,226,900...3,318,316 		JBrowse link
G LOC101700851 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial susceptibility ISO associated with Diabetes, Gestational;DNA:polymorphism:promoter:g.-1260C>A RGD PMID:18476984 RGD:2307310 NCBI chrNW_004624802:10,176,865...10,181,725
Ensembl chrNW_004624802:10,176,919...10,181,657 		JBrowse link
G LOC101724787 vitamin D 25-hydroxylase ISO DNA:SNP:CDS:rs2060793, rs1993116, rs10766197 (human)
DNA:SNP:CDS: rs12794714|rs10766197 (human)
DNA:SNP:CDS:rs12794714 (human)		 RGD PMID:29804528 PMID:31814925 PMID:34906413 RGD:401900724 RGD:401901167 RGD:401901168 NCBI chrNW_004624766:6,667,662...6,678,045
Ensembl chrNW_004624766:6,667,234...6,677,992 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10052453 NCBI chrNW_004624787:6,797,462...6,998,859
Ensembl chrNW_004624787:6,798,938...6,998,697 		JBrowse link
G Nadsyn1 NAD synthetase 1 susceptibility ISO DNA:SNP: :rs10898191(human) RGD PMID:22785457 RGD:11251488 NCBI chrNW_004624767:16,069,895...16,115,029
Ensembl chrNW_004624767:16,069,780...16,115,162 		JBrowse link
G Nr4a2 nuclear receptor subfamily 4 group A member 2 ISO RGD PMID:28365874 RGD:124713570 NCBI chrNW_004624732:9,572,160...9,589,624
Ensembl chrNW_004624732:9,581,779...9,589,942 		JBrowse link
G Retn resistin ISO mRNA:increased expression:liver RGD PMID:21994008 RGD:7207230 NCBI chrNW_004624828:735,562...737,166
Ensembl chrNW_004624828:735,503...737,166 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO associated with obesity;protein:increased expression:serum: RGD PMID:22677566 RGD:7241033 NCBI chrNW_004624857:3,606,573...3,625,991
Ensembl chrNW_004624857:3,606,431...3,627,063 		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 chrNW_004624816:4,314,146...4,423,946
Ensembl chrNW_004624816:4,365,961...4,424,514 		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_004624860:1,478,712...1,486,808
Ensembl chrNW_004624860:1,479,303...1,486,323 		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_004624829:6,960,740...7,151,752
Ensembl chrNW_004624829:6,960,904...7,151,752 		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: DMP1-related condition | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624872:4,169,052...4,184,189
Ensembl chrNW_004624872:4,177,624...4,183,234 		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_004624753:5,918,005...5,983,480
Ensembl chrNW_004624753:5,917,689...5,982,308 		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_004624893:1,390,417...1,581,457
Ensembl chrNW_004624893:1,390,344...1,577,110 		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_004624829:6,960,740...7,151,752
Ensembl chrNW_004624829:6,960,904...7,151,752 		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 chrNW_004624805:5,801,392...5,813,696 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_004624816:4,314,146...4,423,946
Ensembl chrNW_004624816:4,365,961...4,424,514 		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_004624766:5,489,857...5,492,777
Ensembl chrNW_004624766:5,489,800...5,492,871 		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_004624733:12,685,544...12,699,908
Ensembl chrNW_004624733:12,685,546...12,699,901 		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_004624760:720,539...725,940
Ensembl chrNW_004624760:720,472...725,551 		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:24081861 More... NCBI chrNW_004624893:1,390,417...1,581,457
Ensembl chrNW_004624893:1,390,344...1,577,110 		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 chrNW_004624872:4,169,052...4,184,189
Ensembl chrNW_004624872:4,177,624...4,183,234 		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_004624753:5,918,005...5,983,480
Ensembl chrNW_004624753:5,917,689...5,982,308 		JBrowse link
G Fam20c FAM20C golgi associated secretory pathway kinase ISO RGD PMID:22615579 RGD:11558021 NCBI chrNW_004624740:25,984,642...26,032,089
Ensembl chrNW_004624740:25,984,091...26,032,649 		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_004624860:1,478,712...1,486,808
Ensembl chrNW_004624860:1,479,303...1,486,323 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 PMID:35738466 NCBI chrNW_004624766:21,907,423...21,913,414
Ensembl chrNW_004624766:21,911,241...21,913,653 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 PMID:35738466 NCBI chrNW_004624766:21,895,967...21,910,727
Ensembl chrNW_004624766:21,896,933...21,907,911 		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 PMID:9097956 PMID:9106524 PMID:9199930 PMID:9768674 PMID:10737991 More... NCBI chrNW_004624829:6,960,740...7,151,752
Ensembl chrNW_004624829:6,960,904...7,151,752 		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 chrNW_004624805:5,801,392...5,813,696 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_004624816:4,314,146...4,423,946
Ensembl chrNW_004624816:4,365,961...4,424,514 		JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:31959358 NCBI chrNW_004624731:7,186,570...7,365,900
Ensembl chrNW_004624731:7,205,335...7,367,112 		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_004624872:4,169,052...4,184,189
Ensembl chrNW_004624872:4,177,624...4,183,234 		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 OMIM
ClinVar		 PMID:8960499 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 More... NCBI chrNW_004624753:5,918,005...5,983,480
Ensembl chrNW_004624753:5,917,689...5,982,308 		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_004624731:11,086,240...11,318,111
Ensembl chrNW_004624731:11,086,844...11,318,102 		JBrowse link
G Mepe matrix extracellular phosphoglycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11414762 NCBI chrNW_004624872:4,345,045...4,358,456 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:9536098 PMID:12868469 PMID:14564151 PMID:17576681 More... NCBI chrNW_004624740:25,984,642...26,032,089
Ensembl chrNW_004624740:25,984,091...26,032,649 		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_004624766:5,489,857...5,492,777
Ensembl chrNW_004624766:5,489,800...5,492,871 		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 chrNW_004624912:485,252...613,572
Ensembl chrNW_004624912:485,258...614,656 		JBrowse link
G Fam20c FAM20C golgi associated secretory pathway kinase ISO OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785 MouseDO NCBI chrNW_004624740:25,984,642...26,032,089
Ensembl chrNW_004624740:25,984,091...26,032,649 		JBrowse link
G LOC101700851 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial ISO CTD Direct Evidence: marker/mechanism
OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785
vitamin D-dependent rickets type I, OMIM:264700;DNA:missense mutations: :R107H, G125E, R335P, P382S		 CTD
MouseDO
RGD		 PMID:9486994 PMID:11416220 PMID:16494812 RGD:1600874 RGD:734871 NCBI chrNW_004624802:10,176,865...10,181,725
Ensembl chrNW_004624802:10,176,919...10,181,657 		JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chrNW_004624766:5,489,857...5,492,777
Ensembl chrNW_004624766:5,489,800...5,492,871 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chrNW_004624730:74,371,614...74,392,344
Ensembl chrNW_004624730:74,371,294...74,390,262 		JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: Rickets ClinVar PMID:8392085 PMID:22145479 PMID:25741868 PMID:28492532 PMID:28620554 More... NCBI chrNW_004624816:4,314,146...4,423,946
Ensembl chrNW_004624816:4,365,961...4,424,514 		JBrowse link
vitamin D-dependent rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101700851 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets ClinVar NCBI chrNW_004624802:10,176,865...10,181,725
Ensembl chrNW_004624802:10,176,919...10,181,657 		JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624816:4,314,146...4,423,946
Ensembl chrNW_004624816:4,365,961...4,424,514 		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 Ctns cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 ClinVar PMID:9537412 PMID:9792862 PMID:12204010 PMID:19863563 PMID:21786142 More... NCBI chrNW_004624786:6,296,975...6,318,266
Ensembl chrNW_004624786:6,298,243...6,317,743 		JBrowse link
G LOC101700851 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:9536098 PMID:9837822 PMID:10518789 More... RGD:32716373 NCBI chrNW_004624802:10,176,865...10,181,725
Ensembl chrNW_004624802:10,176,919...10,181,657 		JBrowse link
G LOC101724787 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_004624766:6,667,662...6,678,045
Ensembl chrNW_004624766:6,667,234...6,677,992 		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 chrNW_004624766:6,492,803...6,636,059
Ensembl chrNW_004624766:6,492,897...6,635,823 		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 LOC101724787 vitamin D 25-hydroxylase ISO ClinVar Annotator: match by term: CYP2R1-related condition | 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_004624766:6,667,662...6,678,045
Ensembl chrNW_004624766:6,667,234...6,677,992 		JBrowse link
G Pde3b phosphodiesterase 3B ISO ClinVar Annotator: match by term: CYP2R1-related condition | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1B | ClinVar Annotator: match by term: Vitamin D hydroxylation-deficient rickets, type 1B ClinVar PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:22855339 More... NCBI chrNW_004624766:6,492,803...6,636,059
Ensembl chrNW_004624766:6,492,897...6,635,823 		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 chrNW_004624805:5,801,392...5,813,696 JBrowse link
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: 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 OMIM
ClinVar
RGD		 PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... RGD:13432060 RGD:32716373 NCBI chrNW_004624816:4,314,146...4,423,946
Ensembl chrNW_004624816:4,365,961...4,424,514 		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 chrNW_004624885:1,526,625...1,528,235
Ensembl chrNW_004624885:1,527,538...1,528,109 		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 chrNW_004624893:1,390,417...1,581,457
Ensembl chrNW_004624893:1,390,344...1,577,110 		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_004624740:25,984,642...26,032,089
Ensembl chrNW_004624740:25,984,091...26,032,649 		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_004624829:6,960,740...7,151,752
Ensembl chrNW_004624829:6,960,904...7,151,752 		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 chrNW_004624893:1,390,417...1,581,457
Ensembl chrNW_004624893:1,390,344...1,577,110 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14226
    Nutritional and Metabolic Diseases 6960
      nutrition disease 767
        Malnutrition 242
          nutritional deficiency disease 223
            Avitaminosis 184
              Vitamin D Deficiency 30
                rickets + 23
Path 2
Term Annotations click to browse term
  disease 14226
    Nutritional and Metabolic Diseases 6960
      disease of metabolism 6960
        acquired metabolic disease 2121
          nutrition disease 767
            Malnutrition 242
              nutritional deficiency disease 223
                Avitaminosis 184
                  Vitamin D Deficiency 30
                    rickets + 23
paths to the root