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Preferred Name

FUMARATE HYDRATASE
Synonyms

FUMARASE DEFICIENCY
ID

http://purl.bioontology.org/ontology/OMIM/136850
altLabel

FUMARASE DEFICIENCY

HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER

FH

FUMARATE HYDRATASE, MITOCHONDRIAL

FH2

FH1

FUMARASE

FUMARATE HYDRATASE, CYTOSOLIC
cui

C1366530

C1708350

C0342770
Gene Locus

1q42.1
Gene Symbol

FH

FMRD

HLRCC

MCUL1
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/136850.0009

http://purl.bioontology.org/ontology/OMIM/136850.0011

http://purl.bioontology.org/ontology/OMIM/136850.0001

http://purl.bioontology.org/ontology/OMIM/136850.0014

http://purl.bioontology.org/ontology/OMIM/136850.0012

http://purl.bioontology.org/ontology/OMIM/136850.0013

http://purl.bioontology.org/ontology/OMIM/136850.0005

http://purl.bioontology.org/ontology/OMIM/136850.0007

http://purl.bioontology.org/ontology/OMIM/136850.0006

http://purl.bioontology.org/ontology/OMIM/136850.0010

http://purl.bioontology.org/ontology/OMIM/136850.0003

http://purl.bioontology.org/ontology/OMIM/136850.0002

http://purl.bioontology.org/ontology/OMIM/136850.0004

http://purl.bioontology.org/ontology/OMIM/136850.0015

http://purl.bioontology.org/ontology/OMIM/136850.0008
MIMTYPEMEANING

Gene with known sequence
notation

136850
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

FUMARATE HYDRATASE
tui

T191

T028

T047
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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_121823 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/MESH/D005649 Medical Subject Headings / 医学主题词表 LOOM
http://purl.bioontology.org/ontology/MESH/C535516 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/LNC/LP64924-1 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/MESH/C538191 Medical Subject Headings / 医学主题词表 CUI