Medical Subject Headings

Last uploaded: January 31, 2024

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Preferred Name	Congenital Bone Marrow Failure Syndromes
Synonyms	BMF Syndrome, Inherited IBMFS
Definitions	Inherited syndromes characterized by deficiency or absence of various blood cells due to mutations that affect HEMATOPOIETIC STEM CELLS development and proliferation.
ID	http://purl.bioontology.org/ontology/MESH/D000080984
altLabel	BMF Syndrome, Inherited Bone Marrow Failure Syndromes, Congenital Bone Marrow Failure Syndromes, Inherited Inherited Bone Marrow Failure Syndromes CBMFS Inherited BMF Syndrome Inherited Bone Marrow Failure Syndrome Inherited BMF Syndromes Congenital Bone Marrow Failure Syndrome IBMFS
AQL	BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui	C2986691
DC	1
definition	Inherited syndromes characterized by deficiency or absence of various blood cells due to mutations that affect HEMATOPOIETIC STEM CELLS development and proliferation.
DX	20200101
HN	2020
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401
Machine permutation	2020
Mapped from	http://purl.bioontology.org/ontology/MESH/C536353 http://purl.bioontology.org/ontology/MESH/C535982 http://purl.bioontology.org/ontology/MESH/C537592 http://purl.bioontology.org/ontology/MESH/C536940
MDA	20190708
MMR	20200527
MN	C16.614.183 C15.378.190.223.500
notation	D000080984
prefLabel	Congenital Bone Marrow Failure Syndromes
TERMUI	T000956692 T000956966 T000956982 T000956983 T000956713 T000956707 T000997824 T000997826 T000997825 T000956695
TH	NLM (2020) NLM (2021)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D000080983 http://purl.bioontology.org/ontology/MESH/D007232

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MDRGER/10071202	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRFRE/10071202	MDRFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10071202	MEDDRA	CUI
http://purl.bioontology.org/ontology/MSHFRE/D000080984	MSHFRE	CUI
http://id.nlm.nih.gov/mesh/D000080984	MDM	LOOM