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transient tyrosinemia of the newborn

^ http://purl.obolibrary.org/obo/MONDO_0018083


A benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age. [ https://orcid.org/0000-0001-5208-3432 Orphanet:3402 ]

Term info

database cross reference
  • UMLS:CN204402 (MONDO:equivalentTo)
  • Orphanet:3402 (MONDO:equivalentTo)
  • GARD:0005388 (MONDO:equivalentTo)
Subsets

ordo_disease

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4615

definition

A benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_3402, http://linkedlifedata.com/resource/umls/id/CN204402

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0017307

has exact synonym

transient neonatal tyrosinemia, transient tyrosinemia of the neonate

has related synonym

tyrosine-oxidase temporary deficiency

id

MONDO:0018083

Term relations

Subclass of: