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tyrosinemia type II

Go to external page http://purl.obolibrary.org/obo/MONDO_0010160

Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit. [ Orphanet:28378 ]

Synonyms: Richner-Hanhart syndrome tyrosinemia due to TAT deficiency tyrosinemia type II oculocutaneous tyrosinemia tyrosinemia due to tyrosine aminotransferase deficiency keratosis palmoplantaris-corneal dystrophy syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:3105 (Orphanet:28378)
  • NCIT:C129032 (MONDO:equivalentTo)
  • MedDRA:10069463 (Orphanet:28378/e)
  • DOID:0050725 (MONDO:equivalentTo)
  • Orphanet:28378 (OMIM:276600)
  • OMIM:276600 (Orphanet:28378/e)
  • SCTID:4887000 (MONDO:equivalentTo)
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/10069463

exactMatch

http://purl.obolibrary.org/obo/NCIT_C129032

http://purl.obolibrary.org/obo/DOID_0050725

http://www.orpha.net/ORDO/Orphanet_28378

http://identifiers.org/snomedct/4887000

https://omim.org/entry/276600

has related synonym

Tyrosinosis oculocutaneous type

keratosis palmoplantaris with corneal dystrophy

tyrosine aminotransferase deficiency

tyrosine transaminase deficiency

tyrosinemia, type 2

Tyrosinosis, oculocutaneous type

TYRSN2

Richner Hanhart syndrome

tyrosinemia type 2

Tat deficiency

tyrosinemia, type II

Oregon type tyrosinemia

id

MONDO:0010160

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010160

https://rarediseases.info.nih.gov/diseases/3105/tyrosinemia-type-2