Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Jump to:
loading...
Preferred Name

FUMARASE DEFICIENCY
Synonyms

FMRD

FUMARIC ACIDURIA
ID

http://purl.bioontology.org/ontology/OMIM/606812
altLabel

FMRD

FUMARIC ACIDURIA
cui

C0342770

C2936826
Gene Locus

1q42.1
Gene Symbol

FMRD

HLRCC

FH

MCUL1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU001605

http://purl.bioontology.org/ontology/OMIM/MTHU022253

http://purl.bioontology.org/ontology/OMIM/MTHU003093

http://purl.bioontology.org/ontology/OMIM/MTHU022251

http://purl.bioontology.org/ontology/OMIM/MTHU033558

http://purl.bioontology.org/ontology/OMIM/MTHU000061

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU003821

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU000302

http://purl.bioontology.org/ontology/OMIM/MTHU001061

http://purl.bioontology.org/ontology/OMIM/MTHU033560

http://purl.bioontology.org/ontology/OMIM/MTHU000512

http://purl.bioontology.org/ontology/OMIM/MTHU022249

http://purl.bioontology.org/ontology/OMIM/MTHU017273

http://purl.bioontology.org/ontology/OMIM/MTHU003822

http://purl.bioontology.org/ontology/OMIM/MTHU033564

http://purl.bioontology.org/ontology/OMIM/MTHU033561

http://purl.bioontology.org/ontology/OMIM/MTHU037221

http://purl.bioontology.org/ontology/OMIM/MTHU033562

http://purl.bioontology.org/ontology/OMIM/MTHU022256

http://purl.bioontology.org/ontology/OMIM/MTHU022254

http://purl.bioontology.org/ontology/OMIM/MTHU001311

http://purl.bioontology.org/ontology/OMIM/MTHU002513

http://purl.bioontology.org/ontology/OMIM/MTHU009332

http://purl.bioontology.org/ontology/OMIM/MTHU000265

http://purl.bioontology.org/ontology/OMIM/MTHU022255

http://purl.bioontology.org/ontology/OMIM/MTHU002574

http://purl.bioontology.org/ontology/OMIM/MTHU003820

http://purl.bioontology.org/ontology/OMIM/MTHU036658

http://purl.bioontology.org/ontology/OMIM/MTHU036360

http://purl.bioontology.org/ontology/OMIM/MTHU033565

http://purl.bioontology.org/ontology/OMIM/MTHU003349

http://purl.bioontology.org/ontology/OMIM/MTHU022250

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU033559

http://purl.bioontology.org/ontology/OMIM/MTHU000199

http://purl.bioontology.org/ontology/OMIM/MTHU022252

http://purl.bioontology.org/ontology/OMIM/MTHU033563

http://purl.bioontology.org/ontology/OMIM/MTHU003823

http://purl.bioontology.org/ontology/OMIM/MTHU002596

http://purl.bioontology.org/ontology/OMIM/MTHU021428

http://purl.bioontology.org/ontology/OMIM/MTHU022248

http://purl.bioontology.org/ontology/OMIM/MTHU036571

http://purl.bioontology.org/ontology/OMIM/MTHU000242
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

606812
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

FUMARASE DEFICIENCY
Scope Statement

Allelic to hereditary multiple leiomyoma of skin (see 150800) and hereditary leiomyomatosis and renal cell cancer (150800) [MISCELLANEOUS]

Caused by mutation in the fumarate hydratase gene (FH, 136850.0001) [MOLECULAR BASIS]
tui

T047

T033
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10088204 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/C538191 MESH 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.obolibrary.org/obo/DOID_0111261 DOID LOOM
rgo:27820 GAMUTS LOOM
http://purl.obolibrary.org/obo/DOID_0111261 DDSS LOOM
http://nanbyodata.jp/ontology/NANDO_2200520 NANDO LOOM
http://identifiers.org/omim/606812 REXO LOOM
http://identifiers.org/omim/606812 GEXO LOOM
http://identifiers.org/omim/606812 RETO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Fumarase_Deficiency ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Fumarase_Deficiency MEPO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Fumarase_Deficiency EPISEM LOOM
http://purl.obolibrary.org/obo/DOID_0111261 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0111261 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0111261 FNS-H LOOM
http://purl.obolibrary.org/obo/OMIM_606812 CCO LOOM
http://purl.bioontology.org/ontology/RCD/X40Tz RCD LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/237983002 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/MEDDRA/10088204 MEDDRA LOOM