Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

FUMARATE HYDRATASE
Synonyms

HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER
ID

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

HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER

FH1

FUMARASE

FH

FH2

FUMARATE HYDRATASE, CYTOSOLIC

FUMARASE DEFICIENCY

FUMARATE HYDRATASE, MITOCHONDRIAL
cui

C0342770

C1708350

C1366530
Gene Locus

1q42.1
Gene Symbol

FMRD

HLRCC

FH

MCUL1
Has allelic variant

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Gene with known sequence
notation

136850
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

FUMARATE HYDRATASE
tui

T047

T191

T028
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10088204 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10067944 MDRGER CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000271360 PDQ CUI
http://purl.bioontology.org/ontology/SCTSPA/237983002 SCTSPA CUI
http://purl.bioontology.org/ontology/SCTSPA/124616002 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/C538191 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/124616002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/X40Tz RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/237983002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10088204 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10088204 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10077859 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10077866 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10077866 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10067944 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/C535516 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10077859 MEDDRA CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000599273 PDQ CUI
http://purl.bioontology.org/ontology/MDRFRE/10077859 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/1162799008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/1162799008 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10067944 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10077866 MEDDRA CUI
http://purl.bioontology.org/ontology/LNC/LP64924-1 LOINC CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D08.811.520.241.300.300 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0006851 OMIT LOOM
http://id.nlm.nih.gov/mesh/D005649 MDM LOOM
http://purl.bioontology.org/ontology/SNMI/F-6C518 SNMI LOOM
http://www.limics.org/hrdo/rdfns#gen_id_16049 HRDO LOOM
http://purl.obolibrary.org/obo/MESH_D005649 BERO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00020034 PMAPP-PMO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#5283 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D005649 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_121823 ORDO LOOM
http://purl.bioontology.org/ontology/MESH/D005649 MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/304284008 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/RCD/Xa9ug RCD LOOM