Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

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Preferred Name	TYROSINEMIA, TYPE I
Synonyms	TYRSN1
ID	http://purl.bioontology.org/ontology/OMIM/276700
altLabel	TYRSN1 FUMARYLACETOACETASE DEFICIENCY HEPATORENAL TYROSINEMIA FAH DEFICIENCY
cui	C0268490
Gene Locus	15q23-q25
Gene Symbol	FAH
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU007107 http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU008949 http://purl.bioontology.org/ontology/OMIM/MTHU005829 http://purl.bioontology.org/ontology/OMIM/MTHU008947 http://purl.bioontology.org/ontology/OMIM/MTHU008954 http://purl.bioontology.org/ontology/OMIM/MTHU000371 http://purl.bioontology.org/ontology/OMIM/MTHU037987 http://purl.bioontology.org/ontology/OMIM/MTHU000623 http://purl.bioontology.org/ontology/OMIM/MTHU037119 http://purl.bioontology.org/ontology/OMIM/MTHU008943 http://purl.bioontology.org/ontology/OMIM/MTHU007375 http://purl.bioontology.org/ontology/OMIM/MTHU008953 http://purl.bioontology.org/ontology/OMIM/MTHU006653 http://purl.bioontology.org/ontology/OMIM/MTHU008942 http://purl.bioontology.org/ontology/OMIM/MTHU008941 http://purl.bioontology.org/ontology/OMIM/MTHU008952 http://purl.bioontology.org/ontology/OMIM/MTHU042194 http://purl.bioontology.org/ontology/OMIM/MTHU008939 http://purl.bioontology.org/ontology/OMIM/MTHU006645 http://purl.bioontology.org/ontology/OMIM/MTHU036522 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU008948 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU037988 http://purl.bioontology.org/ontology/OMIM/MTHU008950 http://purl.bioontology.org/ontology/OMIM/MTHU002081 http://purl.bioontology.org/ontology/OMIM/MTHU008940 http://purl.bioontology.org/ontology/OMIM/MTHU008960 http://purl.bioontology.org/ontology/OMIM/MTHU008951 http://purl.bioontology.org/ontology/OMIM/MTHU037219 http://purl.bioontology.org/ontology/OMIM/MTHU008946
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	276700
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	TYROSINEMIA, TYPE I
Scope Statement	Symptoms highly variable - rapidly progressive course leading to hepatic failure versus acute hepatic crisis [MISCELLANEOUS] Unusual cabbage-like odor [MISCELLANEOUS] Caused by mutation in the fumarylacetoacetase gene (FAH, 613871.0001) [MOLECULAR BASIS] High incidence in Saguenay-Lac St. Jean region of the province of Quebec, Canada and northern Europe [MISCELLANEOUS]
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MDRGER/10069459	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRGER/10069462	MDRGER	CUI
http://purl.bioontology.org/ontology/SCTSPA/27373000	SCTSPA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10069462	MDRFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10069462	MEDDRA	CUI
http://purl.bioontology.org/ontology/SNMI/D6-A2150	SNMI	CUI
http://purl.bioontology.org/ontology/LNC/LA12528-8	LOINC	CUI
http://purl.bioontology.org/ontology/MEDDRA/10069459	MEDDRA	CUI
http://purl.bioontology.org/ontology/MSHFRE/D020176	MSHFRE	CUI
http://purl.bioontology.org/ontology/MDRFRE/10069459	MDRFRE	CUI
http://purl.bioontology.org/ontology/SCTSPA/124536006	SCTSPA	CUI
http://purl.bioontology.org/ontology/MESH/D020176	MESH	CUI
http://purl.bioontology.org/ontology/SCTSPA/410056006	SCTSPA	CUI
http://purl.bioontology.org/ontology/LNC/LA21170-8	LOINC	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/124536006	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/RCD/X40Rl	RCD	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/410056006	SNOMEDCT	CUI
http://purl.obolibrary.org/obo/MONDO_0010161	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0010161	EFO	LOOM
http://purl.obolibrary.org/obo/DOID_0050726	DOID	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10069462	MEDDRA	LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Tyrosinemia_Type_I	PEDTERM	LOOM
http://purl.bioontology.org/ontology/LNC/LA12528-8	LOINC	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C98641	NCIT	LOOM
http://purl.obolibrary.org/obo/NCIT_C98641	BERO	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0268490	OCHV	LOOM
http://purl.bioontology.org/ontology/LNC/LA21170-8	LOINC	LOOM
http://purl.obolibrary.org/obo/DOID_0050726	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0050726	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0050726	FNS-H	LOOM
http://purl.obolibrary.org/obo/MONDO_0010161	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0010161	KTAO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/410056006	SNOMEDCT	LOOM