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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:hawkinsinuria
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Accession:DOID:0111362 term browser browse the term
Definition:An amino acid metabolic disorder characterized by a defect in tyrosine metabolism with transient metabolic acidosis and tyrosinemia that improves with a phenylalanine and tyrosine restricted diet and presence of the hawksin metabolite in the urine throughout life that has_material_basis_in heterozygous mutation in HPD on chromosome 12q24.31. (DO)
Synonyms:exact_synonym: 4-HPPD deficiency;   4-alpha-hydroxyphenylpyruvate hydroxylase deficiency;   4-hydroxyphenylpyruvic acid dioxygenase deficiency
 primary_id: MESH:C535845
 alt_id: DOID:9008030;   OMIM:140350
 xref: GARD:5668;   ORDO:2118
For additional species annotation, visit the Alliance of Genome Resources.


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hawkinsinuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO ClinVar Annotator: match by OMIM:140350
ClinVar Annotator: match by term: 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency
ClinVar Annotator: match by term: Hawkinsinuria
OMIM
ClinVar
PMID:858207 PMID:1130176 PMID:1519651 PMID:9536098 PMID:10942115 PMID:11073718 PMID:17560158 PMID:17576681 PMID:25741868 PMID:26226126 PMID:28492532 PMID:30984715 NCBI chr12:38,828,606...38,839,956
Ensembl chr12:38,828,444...38,839,969
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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
            tyrosinemia 12
              hawkinsinuria 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
                tyrosinemia 12
                  hawkinsinuria 1
paths to the root