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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-dependent rickets type 2A
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Accession:DOID:0080884 term browser browse the term
Definition:A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q. (DO)
Synonyms:exact_synonym: HVDRR;   HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS;   PDDR IIA;   Pseudovitamin D-Deficiency, Type IIA;   VDDR2A;   generalized resistance to 1,25-dihydroxyvitamin D;   rickets-alopecia syndrome;   vitamin D-deficiency rickets, type II;   vitamin D-dependent rickets type 2A, with or without alopecia;   vitamin D-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol
 primary_id: MESH:C562794
 alt_id: OMIA:001431;   OMIM:277440
 xref: ORDO:93160
For additional species annotation, visit the Alliance of Genome Resources.



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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:6023921 PMID:9322498 PMID:9557894 PMID:9633818 PMID:10204851 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
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
DNA:missense mutations,nonsense mutation:exon,splice junction:
DNA:missense mutation:cds:P.K45E(human)
DNA:missense mutations:cds:
OMIM
ClinVar
RGD
PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... RGD:32716373, RGD:8158074, RGD:13210778, RGD:13210780, RGD:13210792, RGD:13432060 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      hematopoietic system disease 2693
        vitamin D-dependent rickets 12
          vitamin D-dependent rickets type 2A 7
Path 2
Term Annotations click to browse term
  disease 18030
    Nutritional and Metabolic Diseases 6730
      disease of metabolism 6730
        acquired metabolic disease 2138
          nutrition disease 1037
            Malnutrition 308
              nutritional deficiency disease 299
                Avitaminosis 195
                  Vitamin D Deficiency 34
                    rickets 29
                      vitamin D-dependent rickets 12
                        vitamin D-dependent rickets type 2A 7
paths to the root