Phenylalanine hydroxylase

Preferred Label : Phenylalanine hydroxylase;

Symbol : PAH;

CISMeF acronym : PAH;

Type : Gene;

Ensembl ID : ENSG00000171759;

Prefixed ID : *612349;

Details

Origin ID

612349;

UMLS CUI

C1418251;

Automatic exact mappings (from CISMeF team)
- PAH gene [LOINC component]
- Para-Aminohippurate Sodium Measurement [NCIt concept]
- Phenylalanine 4-monooxygenase (substance) [SNOMED CT concept]
- Phenylalanine hydroxylase [LOINC component]
- Pulmonary Arterial Hypertension [NCIt concept]
- Pulmonary arterial hypertension [ICD-11 Subcategory]
- Pulmonary arterial hypertension [ORDO Disease]
- Pulmonary artery hypoplasia [ORDO Disease]
- hypertension, pulmonary [MeSH Descriptor]
- phenylalanine hydroxylase [ORDO Gene]
- phenylalanine hydroxylase [HGNC gene]
- phenylalanine hydroxylase [MeSH Descriptor]
- phenylalanine hydroxylase [MeSH concept]
- proclavaminate amidinohydrolase activity [GO term]
HGNC gene
- phenylalanine hydroxylase [HGNC gene]
NCIt concept(s)
- PAH Gene [NCIt concept]
- PAH wt Allele [NCIt concept]
- Phenylalanine-4-Hydroxylase [NCIt concept]
ORDO concept(s)
- phenylalanine hydroxylase [ORDO Gene]
Phenotypes related
- Phenylketonuria [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- PAH gene [LOINC component]
- phenylalanine hydroxylase [HGNC gene]

Keyword's position in hierarchy(ies) :

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