Mild Non-BH4-Deficient Hyperphenylalaninemia

Preferred Label : Mild Non-BH4-Deficient Hyperphenylalaninemia;

NCIt synonyms : HPANBH4;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the DNAJC12 gene, encoding dnaJ homolog subfamily C member 12. It is characterized by increased serum phenylalanine concentrations resulting in variable neurologic defects, including movement defects and intellectual disability. BH4 metabolism is normal.;

NCI Metathesaurus CUI : CL761096;

Details

Origin ID

C159654;

UMLS CUI

C4479270;

Automatic exact mappings (from CISMeF team)
- Hyperphenylalaninemia, mild, non-bh4-deficient [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperphenylalaninemia, mild, non-bh4-deficient [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- DNAJC12 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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