Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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-dependent rickets
go back to main search page
Accession:DOID:0080883 term browser browse the term
Definition:A bone development disease that is characterized by softening and weakening of the bones, hypocalcemia, high levels of parathyroid hormone and hypophosphatemia. (DO)
Synonyms:xref: ICD9CM:268.0;   MONDO:0024299


show annotations for term's descendants           Sort by:
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 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241 		JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		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:9837822 PMID:10518789 PMID:10566658 More... RGD:32716373 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241 		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 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759 		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 1:168,606,762...168,770,078
Ensembl chr 1:168,607,022...168,769,334 		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-DEPENDENT RICKETS, TYPE 1B | 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:16549493 PMID:22855339 More... NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759 		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 chr 1:168,606,762...168,770,078
Ensembl chr 1:168,607,022...168,769,334 		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 chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409 		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 4:70,364,586...70,367,792 		JBrowse link
G Vdr vitamin D receptor treatment ISO
IMP		 DNA:missense mutations,nonsense mutation:exon,splice junction:
DNA:missense mutation:cds:P.K45E(human)
DNA:missense mutations:cds:
CTD Direct Evidence: marker/mechanism
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: 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
CTD
ClinVar
RGD		 PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... RGD:8158074, RGD:13210778, RGD:13210780, RGD:13210792, RGD:13432060, RGD:32716373 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		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 chr12:9,207,978...9,230,064
Ensembl chr12:9,015,383...9,285,008 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      bone development disease 2385
        vitamin D-dependent rickets 13
          VITAMIN D-DEPENDENT RICKETS, TYPE 3 1
          vitamin D-dependent rickets type 1A 5
          vitamin D-dependent rickets type 1B 2
          vitamin D-dependent rickets type 2A 7
          vitamin D-dependent rickets type 2B 0
Path 2
Term Annotations click to browse term
  disease 19137
    Nutritional and Metabolic Diseases 8542
      disease of metabolism 8542
        acquired metabolic disease 2538
          nutrition disease 1032
            Malnutrition 280
              nutritional deficiency disease 263
                Avitaminosis 219
                  Vitamin D Deficiency 39
                    rickets 30
                      vitamin D-dependent rickets 13
                        VITAMIN D-DEPENDENT RICKETS, TYPE 3 1
                        vitamin D-dependent rickets type 1A 5
                        vitamin D-dependent rickets type 1B 2
                        vitamin D-dependent rickets type 2A 7
                        vitamin D-dependent rickets type 2B 0
paths to the root