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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 1A
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Accession:DOID:0080886 term browser browse the term
Definition:A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13. (DO)
Synonyms:exact_synonym: 1-Alpha-Hydroxylase Deficiency;   1-alpha, 25-hydroxyvitamin D3 deficiency, selective;   25-Hydroxycholecalciferol-1-Hydroxylase Deficiency;   PDDR IA;   PDDR1A;   Pseudovitamin D-Deficiency Rickets, Type IA;   VDD1;   VDDR1A;   Vitamin D Dependency, Type 1;   vitamin D hydroxylation-deficient rickets, type 1A
 related_synonym: vitamin D-deficiency rickets, type I
 primary_id: MESH:C562688
 alt_id: OMIA:000837;   OMIM:264700
For additional species annotation, visit the Alliance of Genome Resources.

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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: PSEUDOVITAMIN D-DEFICIENCY RICKETS, TYPE IA
ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1
ClinVar Annotator: match by term: Vitamin D-dependent rickets type 1A
ClinVar Annotator: match by OMIM:264700
ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A		 OMIM
ClinVar		 PMID:9415400 PMID:9486994 PMID:9837822 PMID:10518789 PMID:10566658 PMID:11737215 PMID:12050193 PMID:17488797 PMID:18394115 PMID:21700898 PMID:22190362 PMID:22443290 PMID:23423976 PMID:23444327 PMID:23483640 PMID:25284246 PMID:25741868 PMID:28492532, PMID:32231239 RGD:32716373 NCBI chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005 		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:24033266 PMID:25942481 PMID:28492532 PMID:28548312 NCBI chr 1:184,060,521...184,106,604
Ensembl chr 1:184,093,920...184,106,200 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      hematopoietic system disease 1797
        vitamin D-dependent rickets 10
          vitamin D-dependent rickets type 1A 4
Path 2
Term Annotations click to browse term
  disease 17126
    Nutritional and Metabolic Diseases 5513
      disease of metabolism 5513
        acquired metabolic disease 2883
          nutrition disease 915
            Malnutrition 220
              nutritional deficiency disease 211
                Avitaminosis 120
                  Vitamin D Deficiency 29
                    rickets 24
                      vitamin D-dependent rickets 10
                        vitamin D-dependent rickets type 1A 4
paths to the root