Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618849 http://purl.bioontology.org/ontology/OMIM/618849
Preferred Name	BONE MARROW FAILURE SYNDROME 6
Synonyms	BMFS6
Type	http://www.w3.org/2002/07/owl#Class

altLabel	BMFS6
prefLabel	BONE MARROW FAILURE SYNDROME 6
Gene Symbol	MDM4 BMFS6
Scope Statement	Variable phenotype [MISCELLANEOUS] One family has been reported (last curated April 2020) [MISCELLANEOUS] Increased susceptibility to cancer [MISCELLANEOUS] Caused by mutation in the MDM4 regulator of p53 gene (MDM4, 602704.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU071087 http://purl.bioontology.org/ontology/OMIM/MTHU026124 http://purl.bioontology.org/ontology/OMIM/MTHU071086 http://purl.bioontology.org/ontology/OMIM/MTHU036682 http://purl.bioontology.org/ontology/OMIM/MTHU055382 http://purl.bioontology.org/ontology/OMIM/MTHU006263 http://purl.bioontology.org/ontology/OMIM/MTHU002606 See more See less
tui	T047
Gene Locus	1q32
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618849
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5394274
OMIM Entry Type	3
OMIM MimType Value	pound

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