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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 type I
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Accession:DOID:0050726 term browser browse the term
Definition:A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body. (DO)
Synonyms:exact_synonym: TYRSN1;   hepatorenal tyrosinemia;   hepatorenal tyrosinemias;   hereditary tyrosinemia, type I;   type I hypertyrosinemia;   tyrosinemia type 1
 primary_id: OMIM:276700
 xref: NCI:C98641
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
tyrosinemia type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd17c abhydrolase domain containing 17C, depalmitoylase ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 1:146,248,505...146,289,465
Ensembl chr 1:146,248,503...146,289,465
JBrowse link
G Arnt2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 1:146,399,217...146,556,437
Ensembl chr 1:146,399,217...146,556,171
JBrowse link
G Cemip cell migration inducing hyaluronidase ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 1:146,069,774...146,226,320
Ensembl chr 1:146,069,771...146,226,462
JBrowse link
G Fah fumarylacetoacetate hydrolase treatment ISO
IMP
ClinVar Annotator: match by term: Tyrosinemia type I
associated with liver disease;DNA:missense mutation:cds:p.R142G (human)
ClinVar
OMIM
PMID:1401056, PMID:7550234, PMID:7757089, PMID:7929843, PMID:7942842, PMID:7977370, PMID:8005583, PMID:8028615, PMID:8076937, PMID:8162054, PMID:8318997, PMID:8364576, PMID:8557261, PMID:8723690, PMID:8723698, PMID:8821854, PMID:8829657, PMID:9101289, PMID:9633815, PMID:9705236, PMID:10508789, PMID:11196105, PMID:11278491, PMID:11476670, PMID:11754109, PMID:12203990, PMID:12555948, PMID:14691918, PMID:15187789, PMID:15465000, PMID:15638932, PMID:16521249, PMID:19569981, PMID:20301688, PMID:21117323, PMID:21752152, PMID:21764616, PMID:22145516, PMID:22554029, PMID:22802474, PMID:22975760, PMID:23000314, PMID:23193487, PMID:23225041, PMID:23348723, PMID:23430822, PMID:23430836, PMID:23895425, PMID:23927806, PMID:24016420, PMID:24033266, PMID:24516753, PMID:24555242, PMID:24756054, PMID:25081276, PMID:25087612, PMID:25256450, PMID:25525159, PMID:25564536, PMID:25681080, PMID:25741868, PMID:26565546, PMID:27093575, PMID:27397503, PMID:27814443, PMID:28492532, PMID:28755192, PMID:30414057, PMID:31300554, PMID:31568711, PMID:30368954, PMID:27397503, PMID:29507093, PMID:27510266 RGD:14401588, RGD:14401587, RGD:14398827, RGD:14398823 NCBI chr 1:146,713,663...146,736,339
Ensembl chr 1:146,713,676...146,736,261
JBrowse link
G Fahem10Dlli-/- fumarylacetoacetate hydrolase; CRISPR/Cas9 induced mutant 10, Dlli IMP by controlling 2-(2-Nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) in drinking water RGD PMID:29507093 RGD:14398827
G Mesd mesoderm development LRP chaperone ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 1:146,030,211...146,043,097
Ensembl chr 1:146,037,426...146,043,097
JBrowse link
G Zfand6 zinc finger AN1-type containing 6 ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 1:146,745,850...146,823,762
Ensembl chr 1:146,745,859...146,823,762
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          Metabolic Brain Diseases, Inborn 505
            tyrosinemia 11
              tyrosinemia type I 9
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            Metabolic Brain Diseases 576
              Metabolic Brain Diseases, Inborn 505
                tyrosinemia 11
                  tyrosinemia type I 9
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.