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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:tyrosinemia
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Accession:DOID:9275 term browser browse the term
Definition:A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features INTELLECTUAL DISABILITY, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3)
Synonyms:exact_synonym: FAH deficiency;   Hereditary Tyrosinemia;   Hypertyrosinemia;   Keratosis Palmoplantaris with Corneal Dystrophy;   Oculocutaneous Type Tyrosinosis;   Oregon type tyrosinemia;   TAT deficiency;   Tat Deficiencies;   fumarylacetoacetase deficiencies;   fumarylacetoacetase deficiency;   fumarylacetoacetase deficiency disease;   fumarylacetoacetase deficiency diseases;   hereditary tyrosinemias;   oculocutaneous type tyrosinoses;   tyrosine aminotransferase deficiency;   tyrosine transaminase deficiency;   tyrosine transaminase deficiency disease;   tyrosinemias
 primary_id: MESH:D020176
 xref: ICD10CM:E70.21;   NCI:C98640;   OMIM:PS276700
For additional species annotation, visit the Alliance of Genome Resources.


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tyrosinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAH fumarylacetoacetate hydrolase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypertyrosinemia
ClinVar Annotator: match by term: Tyrosinemia
ClinVar Annotator: match by term: Fumarylacetoacetase deficiency
CTD
ClinVar
RGD
PMID:7977370, PMID:11209059, PMID:12899938, PMID:23895425, PMID:28492532 RGD:737743 NCBI chr 3:57,300,422...57,326,546
Ensembl chr 3:57,300,441...57,326,486
JBrowse link
G HPD 4-hydroxyphenylpyruvate dioxygenase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypertyrosinemia
CTD
ClinVar
NCBI chr26:7,430,891...7,440,643
Ensembl chr26:7,430,933...7,440,611
JBrowse link
G TAT tyrosine aminotransferase susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:point mutations
ClinVar Annotator: match by term: Hypertyrosinemia
CTD
RGD
ClinVar
PMID:1357662 RGD:1600125 NCBI chr 5:77,365,589...77,378,474
Ensembl chr 5:77,366,138...77,378,419
JBrowse link
hawkinsinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPD 4-hydroxyphenylpyruvate dioxygenase ISO OMIM NCBI chr26:7,430,891...7,440,643
Ensembl chr26:7,430,933...7,440,611
JBrowse link
tyrosinemia type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 3:57,005,106...57,139,585
Ensembl chr 3:57,008,570...57,159,713
JBrowse link
G CEMIP cell migration inducing hyaluronidase 1 ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 3:56,726,605...56,786,176
Ensembl chr 3:56,726,493...56,876,026
JBrowse link
G FAH fumarylacetoacetate hydrolase treatment ISO OMIM
RGD
PMID:30368954 RGD:14401588 NCBI chr 3:57,300,422...57,326,546
Ensembl chr 3:57,300,441...57,326,486
JBrowse link
G LOC488767 protein ABHD17C ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 3:56,881,405...56,928,305 JBrowse link
G MESD mesoderm development LRP chaperone ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 3:56,698,417...56,709,632
Ensembl chr 3:56,705,479...56,709,536
JBrowse link
G ZFAND6 zinc finger AN1-type containing 6 ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 3:57,341,757...57,406,205
Ensembl chr 3:57,342,448...57,406,182
JBrowse link
tyrosinemia type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAT tyrosine aminotransferase ISO OMIM NCBI chr 5:77,365,589...77,378,474
Ensembl chr 5:77,366,138...77,378,419
JBrowse link
tyrosinemia type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPD 4-hydroxyphenylpyruvate dioxygenase ISO OMIM NCBI chr26:7,430,891...7,440,643
Ensembl chr26:7,430,933...7,440,611
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12725
    Nutritional and Metabolic Diseases 3687
      disease of metabolism 3687
        inherited metabolic disorder 2008
          Metabolic Brain Diseases, Inborn 491
            tyrosinemia 8
              hawkinsinuria 1
              tyrosinemia type I 6
              tyrosinemia type II 1
              tyrosinemia type III 1
Path 2
Term Annotations click to browse term
  disease 12725
    disease of anatomical entity 12264
      nervous system disease 10017
        central nervous system disease 8472
          brain disease 7848
            Metabolic Brain Diseases 556
              Metabolic Brain Diseases, Inborn 491
                tyrosinemia 8
                  hawkinsinuria 1
                  tyrosinemia type I 6
                  tyrosinemia type II 1
                  tyrosinemia type III 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.