dopamine beta-hydroxylase deficiency (Q1242612)

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genetic metabolic disorder
  • noradrenaline deficiency
  • norepinephrine deficiency
  • congenital dopamine beta-hydroxylase deficiency
  • DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL
  • dopamine beta hydroxylase deficiency
Language Label Description Also known as
English
dopamine beta-hydroxylase deficiency
genetic metabolic disorder
  • noradrenaline deficiency
  • norepinephrine deficiency
  • congenital dopamine beta-hydroxylase deficiency
  • DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL
  • dopamine beta hydroxylase deficiency

Statements

OMIM ID
223360
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0090145
Orphanet ID
230
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0090145
subclass of
Q18554088 (Deleted Item)
0 references
Q1758393 (Deleted Item)
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0090145
Q55785810 (Deleted Item)
1 reference
stated in
Q55345445 (Deleted Item)
retrieved
28 July 2018
Mondo ID
MONDO_0009123
Q55787335 (Deleted Item)
1 reference
stated in
Q55345445 (Deleted Item)
retrieved
28 July 2018
Mondo ID
MONDO_0009123
Q1337418 (Deleted Item)
1 reference
stated in
Q55345445 (Deleted Item)
retrieved
28 July 2018
Mondo ID
MONDO_0009123
Q622427 (Deleted Item)
1 reference
stated in
Q55345445 (Deleted Item)
retrieved
28 July 2018
Mondo ID
MONDO_0009123
Q200779 (Deleted Item)
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0090145
UMLS CUI
C1857209
mapping relation type
Q39893184 (Deleted Item)
1 reference
stated in
Q55345445 (Deleted Item)
retrieved
28 July 2018
Mondo ID
MONDO_0009123
C0342687
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0090145
Disease Ontology ID
DOID:0090145
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0090145
GARD rare disease ID
1903
2 references
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0090145
stated in
Q55345445 (Deleted Item)
retrieved
28 July 2018
Mondo ID
MONDO_0009123
BabelNet ID
01390249n
1 reference
stated in
Q4837690 (Deleted Item)
MeSH descriptor ID
C535600
mapping relation type
Q39893449 (Deleted Item)
1 reference
stated in
Q55345445 (Deleted Item)
retrieved
28 July 2018
Mondo ID
MONDO_0009123
C535600
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0090145
ICD-10-CM
G90.8
1 reference
stated in
Q55345445 (Deleted Item)
retrieved
28 July 2018
Mondo ID
MONDO_0009123
ICD-9-CM
270.8
1 reference
stated in
Q55345445 (Deleted Item)
retrieved
28 July 2018
Mondo ID
MONDO_0009123
genetic association
Q14907561 (Deleted Item)
2 references
stated in
Q905695 (Deleted Item)
UniProt protein ID
P09172
retrieved
13 August 2019
stated in
Q113138000 (Deleted Item)
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000123454/MONDO_0009123
based on heuristic
Q121819027 (Deleted Item)
Microsoft Academic ID
2776411739
0 references
2909972919
0 references
KEGG ID
H01005
0 references
symptoms and signs
Q622427 (Deleted Item)
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0090145
instance of
Q112193867 (Deleted Item)
0 references
WikiProjectMed ID
Dopamine beta hydroxylase deficiency
0 references
Mondo ID
MONDO_0009123
0 references
 
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