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tyrosinemia type III

Go to external page http://purl.obolibrary.org/obo/MONDO_0010162

Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterized by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate. [ Orphanet:69723 ]

Synonyms: tyrosinemia type III tyrosinemia due to HPD deficiency tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:276710 (Orphanet:69723/e)
  • GARD:10332 (Orphanet:69723)
  • MedDRA:10069461 (Orphanet:69723/e)
  • DOID:0050727 (MONDO:equivalentTo)
  • UMLS:C0268623 (Orphanet:69723/e)
  • Orphanet:69723 (OMIM:276710)
  • SCTID:415764005 (MONDO:equivalentTo)
  • ICD9:270.2 (MONDO:relatedTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4985

closeMatch

http://identifiers.org/meddra/10069461

exactMatch

http://www.orpha.net/ORDO/Orphanet_69723

http://linkedlifedata.com/resource/umls/id/C0268623

https://omim.org/entry/276710

http://purl.obolibrary.org/obo/DOID_0050727

http://identifiers.org/snomedct/415764005

has related synonym

tyrosinemia, type III

4-alpha hydroxyphenylpyruvate dioxygenase deficiency

4-Hydroxyphenylpyruvate dioxygenase deficiency

4-Hydroxyphenylpyruvic acid oxidase deficiency

tyrosinemia, type 3

TYRSN3

tyrosinemia type 3

4-alpha hydroxyphenylpyruvic acid oxidase deficiency

id

MONDO:0010162

seeAlso

https://rarediseases.info.nih.gov/diseases/10332/tyrosinemia-type-3

https://search.clinicalgenome.org/kb/conditions/MONDO:0010162

Term relations

Subclass of: