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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:BH4-deficient hyperphenylalaninemia D
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Accession:DOID:0081131 term browser browse the term
Definition:A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by mild transient hyperphenylalaninemia often detected by newborn screening and that has_material_basis_in homozygous or compound heterozygous mutation in the PCBD gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 10q22. (DO)
Synonyms:exact_synonym: CADH DEFICIENCY;   HPABH4D;   HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE DEFICIENCY;   Hyperphenylalaninemia with Primapterinuria;   PCBD DEFICIENCY;   tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency
 primary_id: MESH:C538382
 alt_id: DOID:9000344;   OMIM:264070
 xref: GARD:2843;   ORDO:1578


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BH4-deficient hyperphenylalaninemia D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcbd1 pterin-4 alpha-carbinolamine dehydratase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE DEFICIENCY | ClinVar Annotator: match by term: Hyperphenylalaninemia, BH4-deficient, D | ClinVar Annotator: match by term: Hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-alpha-carbinolamine dehydratase deficiency		 OMIM
CTD
ClinVar		 PMID:958615 PMID:8352282 PMID:8618906 PMID:9585615 PMID:9760199 More... NCBI chr20:29,037,545...29,044,322
Ensembl chr20:28,953,864...29,044,292
Ensembl chr20:28,953,864...29,044,292 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8247
      disease of metabolism 8247
        inherited metabolic disorder 6257
          amino acid metabolic disorder 1523
            phenylketonuria 42
              BH4-deficient hyperphenylalaninemia D 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            Metabolic Brain Diseases 1490
              Metabolic Brain Diseases, Inborn 1358
                phenylketonuria 42
                  BH4-deficient hyperphenylalaninemia D 1
paths to the root