Preferred Name

FUMARYLACETOACETATE HYDROLASE

Synonyms

TYROSINEMIA, TYPE I

ID

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

altLabel

TYROSINEMIA, TYPE I

FUMARYLACETOACETASE PSEUDODEFICIENCY

FAH

FUMARYLACETOACETASE

cui

C4017342

C0268490

C1414525

Gene Locus

15q23-q25

Gene Symbol

FAH

Has allelic variant

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

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

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

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

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

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

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

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

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

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

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

MIMTYPEMEANING

Gene with known sequence

notation

613871

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

FUMARYLACETOACETATE HYDROLASE

tui

T028

T033

T047

Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_121686 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/MESH/D020176 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/LNC/LP34986-7 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/LNC/LA21170-8 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/LNC/LA12528-8 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI