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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/608643
http://purl.bioontology.org/ontology/OMIM/608643
|
|---|---|
| Preferred Name | AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY |
| Synonyms |
AADCD
DOPA DECARBOXYLASE DEFICIENCY
AADC DEFICIENCY
DDC DEFICIENCY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
AADCD
DOPA DECARBOXYLASE DEFICIENCY
AADC DEFICIENCY
DDC DEFICIENCY
|
|---|---|
| prefLabel | AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
|
| Gene Symbol | DDC
|
| Scope Statement | Onset in early infancy [MISCELLANEOUS]
Caused by mutation in the dopa decarboxylase gene (DDC, 107930.0001) [MOLECULAR BASIS]
Diurnal fluctuation of symptoms [MISCELLANEOUS]
Drug-induced dyskinesias occur in a subset of patients [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 7p11
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 608643
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1291564
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |