Online Mendelian Inheritance in Man - BONE MARROW FAILURE SYNDROME 3 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/617052 http://purl.bioontology.org/ontology/OMIM/617052
Preferred Name	BONE MARROW FAILURE SYNDROME 3
Synonyms	BMFS3
Type	http://www.w3.org/2002/07/owl#Class

altLabel	BMFS3
prefLabel	BONE MARROW FAILURE SYNDROME 3
Gene Symbol	DNAJA5 DNAJC21 BMFS3
Scope Statement	Caused by mutation in the DNAJ/HSP40 homolog, subfamily C, member 21 gene (DNAJC21, 617048.0001) [MOLECULAR BASIS] Onset in in infancy or early childhood [MISCELLANEOUS] Possible cancer predisposition [MISCELLANEOUS] Bone marrow hypocellularity may improve spontaneously with age [MISCELLANEOUS] Highly variable phenotype [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU018552 http://purl.bioontology.org/ontology/OMIM/MTHU036684 http://purl.bioontology.org/ontology/OMIM/MTHU003535 http://purl.bioontology.org/ontology/OMIM/MTHU001998 http://purl.bioontology.org/ontology/OMIM/MTHU036427 http://purl.bioontology.org/ontology/OMIM/MTHU010290 http://purl.bioontology.org/ontology/OMIM/MTHU002993 http://purl.bioontology.org/ontology/OMIM/MTHU063935 http://purl.bioontology.org/ontology/OMIM/MTHU000068 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU050641 http://purl.bioontology.org/ontology/OMIM/MTHU006123 http://purl.bioontology.org/ontology/OMIM/MTHU020425 http://purl.bioontology.org/ontology/OMIM/MTHU002047 http://purl.bioontology.org/ontology/OMIM/MTHU000576 http://purl.bioontology.org/ontology/OMIM/MTHU061182 http://purl.bioontology.org/ontology/OMIM/MTHU020037 http://purl.bioontology.org/ontology/OMIM/MTHU063936 http://purl.bioontology.org/ontology/OMIM/MTHU001049 http://purl.bioontology.org/ontology/OMIM/MTHU036695 http://purl.bioontology.org/ontology/OMIM/MTHU068928 http://purl.bioontology.org/ontology/OMIM/MTHU038564 http://purl.bioontology.org/ontology/OMIM/MTHU007215 http://purl.bioontology.org/ontology/OMIM/MTHU014363 http://purl.bioontology.org/ontology/OMIM/MTHU070237 http://purl.bioontology.org/ontology/OMIM/MTHU002570 http://purl.bioontology.org/ontology/OMIM/MTHU004643 http://purl.bioontology.org/ontology/OMIM/MTHU008278 http://purl.bioontology.org/ontology/OMIM/MTHU036682 http://purl.bioontology.org/ontology/OMIM/MTHU000554 http://purl.bioontology.org/ontology/OMIM/MTHU001429 http://purl.bioontology.org/ontology/OMIM/MTHU007776 http://purl.bioontology.org/ontology/OMIM/MTHU051548 http://purl.bioontology.org/ontology/OMIM/MTHU009662 http://purl.bioontology.org/ontology/OMIM/MTHU000066 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU036450 http://purl.bioontology.org/ontology/OMIM/MTHU037342 http://purl.bioontology.org/ontology/OMIM/MTHU061775 http://purl.bioontology.org/ontology/OMIM/MTHU036683 http://purl.bioontology.org/ontology/OMIM/MTHU015980 http://purl.bioontology.org/ontology/OMIM/MTHU011134 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU000569 See more See less
tui	T047
Gene Locus	5p13.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	617052
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4310744
OMIM Entry Type	3
OMIM MimType Value	pound

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