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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: MIM:277440;   OMIA:001431
 xref: ORDO:93160

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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 chr 9:13,309,059...13,331,606
Ensembl chr 9:13,308,951...13,331,504 		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: 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 chr11:44,062,198...44,126,295
Ensembl chr11:44,065,457...44,166,684 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15275
    Developmental Disease 13251
      bone development disease 2250
        vitamin D-dependent rickets 6
          vitamin D-dependent rickets type 2A 2
Path 2
Term Annotations click to browse term
  disease 15275
    Nutritional and Metabolic Diseases 7113
      disease of metabolism 7113
        acquired metabolic disease 2160
          nutrition disease 802
            Malnutrition 252
              nutritional deficiency disease 236
                Avitaminosis 199
                  Vitamin D Deficiency 31
                    rickets 24
                      vitamin D-dependent rickets 6
                        vitamin D-dependent rickets type 2A 2
paths to the root