Online Mendelian Inheritance in Man - BONE MARROW FAILURE SYNDROME 5 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618165 http://purl.bioontology.org/ontology/OMIM/618165
Preferred Name	BONE MARROW FAILURE SYNDROME 5
Synonyms	BMFS5
Type	http://www.w3.org/2002/07/owl#Class

altLabel	BMFS5
prefLabel	BONE MARROW FAILURE SYNDROME 5
Gene Symbol	BCC7 BMFS5 P53 TP53 LFS1
Scope Statement	Onset in early infancy [MISCELLANEOUS] Two unrelated patients have been reported (last curated October 2018) [MISCELLANEOUS] Caused by mutation in the tumor protein p53 gene (TP53, 191170.0043) [MOLECULAR BASIS] De novo mutation [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU048109 http://purl.bioontology.org/ontology/OMIM/MTHU000691 http://purl.bioontology.org/ontology/OMIM/MTHU061712 http://purl.bioontology.org/ontology/OMIM/MTHU062693 http://purl.bioontology.org/ontology/OMIM/MTHU062694 http://purl.bioontology.org/ontology/OMIM/MTHU001684 http://purl.bioontology.org/ontology/OMIM/MTHU001789 http://purl.bioontology.org/ontology/OMIM/MTHU070572 http://purl.bioontology.org/ontology/OMIM/MTHU000132 http://purl.bioontology.org/ontology/OMIM/MTHU008398 http://purl.bioontology.org/ontology/OMIM/MTHU070573 http://purl.bioontology.org/ontology/OMIM/MTHU038981 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU002606 See more See less
tui	T047
Gene Locus	17p13.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618165
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C4748488
OMIM Entry Type	3
OMIM MimType Value	pound

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