Aromatic L-Amino Acid Decarboxylase enzyme low in plasma

obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features

http://obophenotype.github.io/human-phenotype-ontology/

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Aromatic L-Amino Acid Decarboxylase enzyme low in plasma #10262

Closed MickeySegal closed 10 months ago

MickeySegal commented 11 months ago

Preferred term label: Aromatic L-Amino Acid Decarboxylase enzyme low in plasma

Synonyms AADC

Definition (free text, please give PubMed ID)

Parent term (use hpo.jax.org/app)

Diseases characterized by this term ? (e.g. Orphanet or OMIM number) Aromatic L-amino acid decarboxylase deficiency https://www.ncbi.nlm.nih.gov/books/NBK595821/ "measurement of ... plasma AADC enzyme activity is recommended if the pathogenic variants in the family are not known"

Your nano-attribution (ORCID)

pnrobinson commented 10 months ago

@MickeySegal Adding new term:

ID: HP:6000037
label: Reduced circulating aromatic L-amino acid decarboxylase activity
parents: Abnormal circulating enzyme concentration or activity (HP:0012379)
pmid: PMID:17240182
def: The activity of aromatic L-amino acid decarboxylase (also known as DOPA decarboxylase, tryptophan decarboxylase, and 5-hydroxytryptophan decarboxylase) in the blood circulation is below the lower limit of normal.
comment:
orcid: orcid:0000-0002-0736-9199
github ID: https://github.com/obophenotype/human-phenotype-ontology/issues/10262
synonyms: Reduced circulating DOPA decarboxylase, activity(NONE)|Reduced circulating 5-hydroxytryptophan decarboxylase activity(NONE)