FNS-Harmony

Last uploaded: November 2, 2023

Preferred Name	tyrosinemia type II
Synonyms
Definitions	A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels.
ID	http://purl.obolibrary.org/obo/DOID_0050725
definition	A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels.
imported from	http://purl.obolibrary.org/obo/doid.owl
label	tyrosinemia type II
prefixIRI	DOID:0050725
prefLabel	tyrosinemia type II
subClassOf	http://purl.obolibrary.org/obo/DOID_37 http://purl.obolibrary.org/obo/DOID_9275 http://purl.obolibrary.org/obo/DOID_409

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0050725	DTO	SAME_URI
http://purl.obolibrary.org/obo/DOID_0050725	DOID	SAME_URI
http://purl.obolibrary.org/obo/DOID_0050725	HHEAR	SAME_URI
http://purl.obolibrary.org/obo/DOID_0050725	NIFSTD	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0010160	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0010160	EFO	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15096	DERMLEX	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10069463	MEDDRA	LOOM
http://purl.bioontology.org/ontology/LNC/LA12529-6	LOINC	LOOM
http://purl.bioontology.org/ontology/OMIM/276600	OMIM	LOOM
http://purl.bioontology.org/ontology/LNC/LA21171-6	LOINC	LOOM
http://purl.obolibrary.org/obo/MONDO_0010160	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0010160	DOVES	LOOM
http://purl.obolibrary.org/obo/NCIT_C129032	BERO	LOOM
http://id.nlm.nih.gov/mesh/D020176	MDM	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C129032	NCIT	LOOM
http://purl.obolibrary.org/obo/DOID_0050725	DTO	LOOM
http://purl.obolibrary.org/obo/DOID_0050725	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0050725	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0050725	NIFSTD	LOOM