Medical Subject Headings

Last uploaded: January 31, 2024

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Preferred Name	Cardiomyopathy, Hypertrophic, Familial
Synonyms	Ventricular Hypertrophies, Familial
Definitions	An autosomal dominant inherited form of HYPERTROPHIC CARDIOMYOPATHY. It results from any of more than 50 mutations involving genes encoding contractile proteins such as VENTRICULAR MYOSINS; cardiac TROPONIN T; ALPHA-TROPOMYOSIN.
ID	http://purl.bioontology.org/ontology/MESH/D024741
altLabel	Ventricular Hypertrophies, Familial Familial Hypertrophic Cardiomyopathies Hypertrophy, Familial Ventricular Ventricular Hypertrophies, Hereditary Hereditary Ventricular Hypertrophies Hypertrophies, Hereditary Ventricular Cardiomyopathy, Familial Hypertrophic Familial Ventricular Hypertrophy Asymmetric Septal Hypertrophy, Familial Hypertrophic Subaortic Stenosis, Idiopathic Hypertrophy, Hereditary Ventricular Cardiomyopathies, Familial Hypertrophic Ventricular Hypertrophy, Familial Obstructive Asymmetric Septal Hypertrophy Hypertrophic Cardiomyopathies, Familial Hypertrophic Cardiomyopathy, Familial Familial Hypertrophic Cardiomyopathy Familial Ventricular Hypertrophies Hereditary Ventricular Hypertrophy Ventricular Hypertrophy, Hereditary
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	C0949658 C0700053 C0597124
DC	1
definition	An autosomal dominant inherited form of HYPERTROPHIC CARDIOMYOPATHY. It results from any of more than 50 mutations involving genes encoding contractile proteins such as VENTRICULAR MYOSINS; cardiac TROPONIN T; ALPHA-TROPOMYOSIN.
DX	20020101
FX	D014335 D024723 D020107
HN	2002
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
Inverse of RO	http://purl.bioontology.org/ontology/MESH/D024722 http://purl.bioontology.org/ontology/MESH/D024723 http://purl.bioontology.org/ontology/MESH/D020107 http://purl.bioontology.org/ontology/MESH/D014335
Machine permutation	2002
Mapped from	http://purl.bioontology.org/ontology/MESH/C566169 http://purl.bioontology.org/ontology/MESH/C566170 http://purl.bioontology.org/ontology/MESH/C566171 http://purl.bioontology.org/ontology/MESH/C563865 http://purl.bioontology.org/ontology/MESH/C563866 http://purl.bioontology.org/ontology/MESH/C566044 http://purl.bioontology.org/ontology/MESH/C563436 http://purl.bioontology.org/ontology/MESH/C567686 http://purl.bioontology.org/ontology/MESH/C567684 http://purl.bioontology.org/ontology/MESH/C567681 http://purl.bioontology.org/ontology/MESH/C567419 http://purl.bioontology.org/ontology/MESH/C566005
MDA	20010725
MMR	20200228
MN	C14.280.238.100.500 C14.280.484.048.750.070.160.500 C16.320.160
notation	D024741
prefLabel	Cardiomyopathy, Hypertrophic, Familial
TERMUI	T548677 T432009 T427490 T548678 T834089 T548676 T834087 T751035 T834088
TH	OMIM (2013) NLM (2002) NLM (2005) NLM (2010) NLM (2014) ORD (2010)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D002312 http://purl.bioontology.org/ontology/MESH/D030342

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNMI/D3-23120	SNMI	CUI
http://purl.bioontology.org/ontology/MDRGER/10021280	MDRGER	CUI
http://purl.bioontology.org/ontology/CSP/0724-8626	CRISP	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/83978005	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000011119	NDFRT	CUI
http://purl.bioontology.org/ontology/OMIM/601253	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/192600	OMIM	CUI
http://purl.bioontology.org/ontology/SCTSPA/83978005	SCTSPA	CUI
http://purl.bioontology.org/ontology/MSHFRE/D024741	MSHFRE	CUI
http://purl.bioontology.org/ontology/OMIM/590045	OMIM	CUI
http://purl.bioontology.org/ontology/CSP/0724-8626	CRISP	CUI
http://purl.bioontology.org/ontology/MDRFRE/10021230	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRGER/10021230	MDRGER	CUI
http://purl.bioontology.org/ontology/CSP/1393-3642	CRISP	CUI
http://purl.bioontology.org/ontology/MEDDRA/10021280	MEDDRA	CUI
http://purl.bioontology.org/ontology/MEDDRA/10021230	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10021280	MDRFRE	CUI
http://purl.bioontology.org/ontology/ICD10CM/I42.1	ICD10CM	CUI
http://purl.bioontology.org/ontology/OMIM/192600	OMIM	CUI
http://purl.bioontology.org/ontology/SNMI/D4-31A32	SNMI	CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.280.238.100.500	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.160	RH-MESH	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036253	PMAPP-PMO	LOOM
http://purl.jp/bio/4/id/200906032560711811	IOBC	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D024741	RH-MESH	LOOM
http://purl.obolibrary.org/obo/OMIT_0021083	OMIT	LOOM