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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 B
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Accession:DOID:0112225 term browser browse the term
Definition:An amino acid metabolic disorder that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in homozygous or compound heterozygous mutation in GCH1 on chromosome 14q22.2. (DO)
Synonyms:exact_synonym: GTP Cyclohydrolase I Deficiency;   GTP cyclohydrolase 1 deficiency;   HPABH4B;   tetrahydrobiopterin-deficient hyperphenylalaninemia B;   tetrahydrobiopterin-deficient hyperphenylalaninemia due to GTP cyclohydrolase I deficiency
 narrow_synonym: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE
 primary_id: MESH:C562656
 alt_id: OMIM:233910
 xref: NCI:C141442;   ORDO:2102
For additional species annotation, visit the Alliance of Genome Resources.


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BH4-deficient hyperphenylalaninemia B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by OMIM:233910
ClinVar Annotator: match by term: GTP cyclohydrolase I deficiency
ClinVar Annotator: match by term: Hyperphenylalaninemia, BH4-Deficient, B
OMIM
ClinVar
PMID:1530300 PMID:7730309 PMID:7869202 PMID:8852666 PMID:9328244 PMID:9536098 PMID:9667588 PMID:10984668 PMID:12391354 PMID:12707079 PMID:15303002 PMID:15389992 PMID:17044972 PMID:17576681 PMID:17898029 PMID:18044725 PMID:19332422 PMID:19491146 PMID:23430498 PMID:24033266 PMID:24993959 PMID:25125585 PMID:25398234 PMID:25416181 PMID:25497597 PMID:25741868 PMID:26230973 PMID:26467025 PMID:27185167 PMID:27217339 PMID:27246466 PMID:27313105 PMID:28492532 PMID:30314816 NCBI chr15:23,935,011...23,968,971
Ensembl chr15:23,934,585...23,969,011
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        Metabolic Brain Diseases 587
          Metabolic Brain Diseases, Inborn 517
            phenylketonuria 14
              BH4-deficient hyperphenylalaninemia B 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        central nervous system disease 10197
          brain disease 9570
            Metabolic Brain Diseases 587
              Metabolic Brain Diseases, Inborn 517
                phenylketonuria 14
                  BH4-deficient hyperphenylalaninemia B 1
paths to the root