Online Mendelian Inheritance in Man - FUMARASE DEFICIENCY - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/606812 http://purl.bioontology.org/ontology/OMIM/606812
Preferred Name	FUMARASE DEFICIENCY
Synonyms	FMRD FUMARIC ACIDURIA
Type	http://www.w3.org/2002/07/owl#Class

altLabel	FMRD FUMARIC ACIDURIA
prefLabel	FUMARASE DEFICIENCY
Gene Symbol	FMRD HLRCC FH MCUL1
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]
type	http://www.w3.org/2002/07/owl#Class
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 See more See less
tui	T047 T033
Gene Locus	1q42.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	606812
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047 http://purl.bioontology.org/ontology/STY/T033
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C0342770 C2936826
OMIM Entry Type	3
OMIM MimType Value	pound

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