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dopamine beta-hydroxylase 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:dopamine beta-hydroxylase deficiency
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Accession:DOID:0090145 term browser browse the term
Definition:An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopamine beta-hydroxylase gene (DBH) on chromosome 9q34. (DO)
Synonyms:exact_synonym: ORTHYP1;   congenital dopamine beta hydroxylase deficiency;   dopamine b-hydroxylase;   noradrenaline deficiency;   norepinephrine deficiency;   orthostatic hypotension 1
 xref: GARD:1903;   MESH:C535600;   MIM:223360;   MONDO:0009123;   ORDO:230

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dopamine beta-hydroxylase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Dbh dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Orthostatic hypotension 1 OMIM
ClinVar		 PMID:7715704 PMID:9536098 PMID:11170900 PMID:11857564 PMID:14598346 More... NCBI chrNW_004624760:2,016,066...2,030,240
Ensembl chrNW_004624760:2,015,474...2,029,939 		JBrowse link
G G DBH dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Orthostatic hypotension 1 OMIM
ClinVar		 PMID:7715704 PMID:9536098 PMID:11170900 PMID:11857564 PMID:14598346 More... NCBI chr12:4,474,041...4,498,942
Ensembl chr12:4,474,958...4,498,910 		JBrowse link
G P DBH dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Orthostatic hypotension 1 OMIM
ClinVar		 PMID:7715704 PMID:9536098 PMID:11170900 PMID:11857564 PMID:14598346 More... NCBI chr 1:273,204,407...273,225,562
Ensembl chr 1:273,204,175...273,225,552 		JBrowse link
G S Dbh dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Orthostatic hypotension 1 OMIM
ClinVar		 PMID:7715704 PMID:9536098 PMID:11170900 PMID:11857564 PMID:14598346 More... NCBI chrNW_004936669:3,302,014...3,326,233
Ensembl chrNW_004936669:3,301,802...3,320,643 		JBrowse link
G D DBH dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Orthostatic hypotension 1 OMIM
ClinVar		 PMID:7715704 PMID:9536098 PMID:11170900 PMID:11857564 PMID:14598346 More... NCBI chr 9:50,004,806...50,024,130
Ensembl chr 9:50,004,806...50,024,130 		JBrowse link
G B DBH dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Orthostatic hypotension 1 OMIM
ClinVar		 PMID:7715704 PMID:9536098 PMID:11170900 PMID:11857564 PMID:14598346 More... NCBI chr 9:104,761,504...104,784,445
Ensembl chr 9:133,371,821...133,393,697 		JBrowse link
G C Dbh dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Orthostatic hypotension 1 OMIM
ClinVar		 PMID:7715704 PMID:9536098 PMID:11170900 PMID:11857564 PMID:14598346 More... NCBI chrNW_004955513:2,918,085...2,932,481
Ensembl chrNW_004955513:2,918,286...2,932,247 		JBrowse link
G R Dbh dopamine beta-hydroxylase ISO
ISS		 ClinVar Annotator: match by term: Orthostatic hypotension 1
OMIM:223360
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:7715704 PMID:9536098 PMID:11170900 PMID:11857564 PMID:14598346 More... NCBI chr 3:30,886,313...30,903,313
Ensembl chr 3:10,488,260...10,505,248 		JBrowse link
G M Dbh dopamine beta hydroxylase ISO
IAGP		 ClinVar Annotator: match by term: Orthostatic hypotension 1
CTD Direct Evidence: marker/mechanism
OMIM:223360		 OMIM
ClinVar
CTD
MouseDO		 PMID:7715704 PMID:9536098 PMID:11170900 PMID:11857564 PMID:14598346 More... NCBI chr 2:27,055,519...27,073,216
Ensembl chr 2:27,055,245...27,073,212 		JBrowse link
G H DBH dopamine beta-hydroxylase IAGP
ISS
EXP		 ClinVar Annotator: match by term: Orthostatic hypotension 1
OMIM:223360
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:7715704 PMID:9536098 PMID:11170900 PMID:11857564 PMID:14598346 More... NCBI chr 9:133,636,363...133,659,329
Ensembl chr 9:133,636,363...133,659,329 		JBrowse link
G H DBH-AS1 DBH antisense RNA 1 IAGP ClinVar Annotator: match by term: Orthostatic hypotension 1 ClinVar PMID:7715704 PMID:9536098 PMID:15060114 PMID:17576681 PMID:22028891 More... NCBI chr 9:133,654,587...133,657,408
Ensembl chr 9:133,654,586...133,657,313 		JBrowse link
G N Hspa5 heat shock protein family A (Hsp70) member 5 ISO RGD PMID:21209083 RGD:5685690 NCBI chrNW_004624760:9,986,529...9,991,261
Ensembl chrNW_004624760:9,986,656...9,995,252 		JBrowse link
G G HSPA5 heat shock protein family A (Hsp70) member 5 ISO RGD PMID:21209083 RGD:5685690 NCBI chr12:12,920,705...12,925,888
Ensembl chr12:12,920,710...12,927,431 		JBrowse link
G P HSPA5 heat shock protein family A (Hsp70) member 5 ISO RGD PMID:21209083 RGD:5685690 NCBI chr 1:265,930,044...265,934,959
Ensembl chr 1:265,930,045...265,934,894 		JBrowse link
G S Hspa5 heat shock protein family A (Hsp70) member 5 ISO RGD PMID:21209083 RGD:5685690 NCBI chrNW_004936487:13,348,465...13,352,717
Ensembl chrNW_004936487:13,348,465...13,352,717 		JBrowse link
G D HSPA5 heat shock protein family A (Hsp70) member 5 ISO RGD PMID:21209083 RGD:5685690 NCBI chr 9:57,850,870...57,855,607
Ensembl chr 9:57,850,922...57,855,257 		JBrowse link
G B HSPA5 heat shock protein family A (Hsp70) member 5 ISO RGD PMID:21209083 RGD:5685690 NCBI chr 9:96,351,645...96,356,761
Ensembl chr 9:124,865,211...124,870,458 		JBrowse link
G C Hspa5 heat shock protein family A (Hsp70) member 5 ISO RGD PMID:21209083 RGD:5685690 NCBI chrNW_004955419:3,055,420...3,060,208
Ensembl chrNW_004955419:3,055,420...3,062,131 		JBrowse link
G R Hspa5 heat shock protein family A (Hsp70) member 5 ISO RGD PMID:21209083 RGD:5685690 NCBI chr 3:38,453,016...38,457,475
Ensembl chr 3:18,055,405...18,059,891 		JBrowse link
G M Hspa5 heat shock protein 5 ISO RGD PMID:21209083 RGD:5685690 NCBI chr 2:34,662,102...34,666,541
Ensembl chr 2:34,661,982...34,667,559 		JBrowse link
G H HSPA5 heat shock protein family A (Hsp70) member 5 IAGP RGD PMID:21209083 RGD:5685690 NCBI chr 9:125,234,853...125,241,343
Ensembl chr 9:125,234,853...125,241,382 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    Nutritional and Metabolic Diseases 94048
      disease of metabolism 94048
        inherited metabolic disorder 74830
          dopamine beta-hydroxylase deficiency 21
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        central nervous system disease 157774
          brain disease 148547
            disease of mental health 111500
              cognitive disorder 38986
                anxiety disorder 2456
                  neurocirculatory asthenia 110
                    Orthostatic Intolerance 110
                      Orthostatic Hypotension 90
                        dopamine beta-hydroxylase deficiency 21
paths to the root