Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

FUMARYLACETOACETATE HYDROLASE

Synonyms

FUMARYLACETOACETASE PSEUDODEFICIENCY

ID

http://purl.bioontology.org/ontology/OMIM/613871

altLabel

FUMARYLACETOACETASE PSEUDODEFICIENCY

FUMARYLACETOACETASE

FAH

TYROSINEMIA, TYPE I

cui

C1414525

C4017342

C0268490

Gene Locus

15q23-q25

Gene Symbol

FAH

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/613871.0011

http://purl.bioontology.org/ontology/OMIM/613871.0010

http://purl.bioontology.org/ontology/OMIM/613871.0005

http://purl.bioontology.org/ontology/OMIM/613871.0006

http://purl.bioontology.org/ontology/OMIM/613871.0007

http://purl.bioontology.org/ontology/OMIM/613871.0004

http://purl.bioontology.org/ontology/OMIM/613871.0002

http://purl.bioontology.org/ontology/OMIM/613871.0001

http://purl.bioontology.org/ontology/OMIM/613871.0008

http://purl.bioontology.org/ontology/OMIM/613871.0003

http://purl.bioontology.org/ontology/OMIM/613871.0009

MIMTYPEMEANING

Gene with known sequence

notation

613871

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

FUMARYLACETOACETATE HYDROLASE

tui

T047

T033

T028

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