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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 A
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Accession:DOID:0090106 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 autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1. (DO)
Synonyms:exact_synonym: 6-pyruvoyl-tetrahydropterin synthase deficiency;   HPABH4A;   Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency;   Hyperphenylalaninemia, BH4-Deficient, Type A;   PTS Deficiency;   tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency;   tetrahydrobiopterin-deficient hyperphenylalaninemia, due to PTS deficiency
 narrow_synonym: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, DUE TO PARTIAL PTS DEFICIENCY
 primary_id: MESH:C535325
 alt_id: OMIM:261640
 xref: GARD:5682;   NCI:C138171;   ORDO:13
For additional species annotation, visit the Alliance of Genome Resources.

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BH4-deficient hyperphenylalaninemia A 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 term: 6-pyruvoyl-tetrahydropterin synthase deficiency ClinVar PMID:25741868 NCBI chr15:23,935,011...23,968,971
Ensembl chr15:23,934,585...23,969,011 		JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:7981714 PMID:8088845 PMID:8268925 PMID:8533759 PMID:8830172 PMID:8981952 PMID:9012412 PMID:9298832 PMID:9399896 PMID:9429153 PMID:9634518 PMID:10234516 PMID:10394930 PMID:10598814 PMID:10693064 PMID:10980574 PMID:11385716 PMID:11708866 PMID:12655553 PMID:14722928 PMID:15464430 PMID:16051511 PMID:16198137 PMID:17096675 PMID:17924342 PMID:17935162 PMID:18294361 PMID:18299955 PMID:21147011 PMID:21307867 PMID:21953985 PMID:22698810 PMID:23357515 PMID:23500595 PMID:23792259 PMID:23842451 PMID:23932990 PMID:24350308 PMID:24368688 PMID:25087612 PMID:25333069 PMID:25741868 PMID:26467025 PMID:26542770 PMID:26600521 PMID:26666653 PMID:27121329 PMID:27243974 PMID:27620137 PMID:28492532 PMID:29288420 PMID:30037505 NCBI chr 7:28,066,639...28,129,772
Ensembl chr 7:28,066,635...28,129,769 		JBrowse link
G Pts 6-pyruvoyl-tetrahydropterin synthase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A
ClinVar Annotator: match by term: 6-pyruvoyl-tetrahydropterin synthase deficiency
ClinVar Annotator: match by OMIM:261640
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:3297709 PMID:7493990 PMID:7563095 PMID:7698774 PMID:8178819 PMID:8707300 PMID:9159737 PMID:9222757 PMID:9450907 PMID:10089284 PMID:10220141 PMID:10319579 PMID:10585341 PMID:10874306 PMID:11388593 PMID:11438997 PMID:11694255 PMID:11916314 PMID:16850690 PMID:16917893 PMID:17001642 PMID:17160954 PMID:18505119 PMID:19280650 PMID:19350512 PMID:20059486 PMID:21933604 PMID:22237589 PMID:23138986 PMID:23942198 PMID:25087612 PMID:25304915 PMID:25418970 PMID:25456745 PMID:25525159 PMID:25741868 PMID:25758715 PMID:26830550 PMID:27243974 PMID:27246466 PMID:28378820 PMID:28492532 PMID:28915855 PMID:29499199 NCBI chr 8:54,954,261...54,961,271
Ensembl chr 8:54,954,226...54,961,265 		JBrowse link
G Tex12 testis expressed 12 ISO ClinVar Annotator: match by term: 6-pyruvoyl-tetrahydropterin synthase deficiency ClinVar PMID:7563095 PMID:20059486 NCBI chr 8:54,991,501...54,999,454
Ensembl chr 8:54,992,841...54,994,871 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        inherited metabolic disorder 2358
          amino acid metabolic disorder 448
            BH4-deficient hyperphenylalaninemia A 4
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 A 4
paths to the root