Medical Subject Headings

Last uploaded: April 29, 2019
Preferred Name

Cardiomyopathy, Hypertrophic, Familial

Synonyms

Familial Hypertrophic Cardiomyopathies

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

Familial Hypertrophic Cardiomyopathies

Hypertrophic Cardiomyopathy, Familial

Ventricular Hypertrophy, Hereditary

Cardiomyopathy, Familial Hypertrophic

Hereditary Ventricular Hypertrophy

Familial Ventricular Hypertrophies

Familial Hypertrophic Cardiomyopathy

Hereditary Ventricular Hypertrophies

Ventricular Hypertrophies, Familial

Hypertrophic Subaortic Stenosis, Idiopathic

Asymmetric Septal Hypertrophy, Familial

Ventricular Hypertrophies, Hereditary

Familial Ventricular Hypertrophy

Ventricular Hypertrophy, Familial

Hypertrophies, Hereditary Ventricular

Hypertrophic Cardiomyopathies, Familial

Hypertrophy, Familial Ventricular

Obstructive Asymmetric Septal Hypertrophy

Cardiomyopathies, Familial Hypertrophic

Hypertrophy, Hereditary Ventricular

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

C0700053

C0949658

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

D024723

D014335

D020107

HN

2002

Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000401

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000469

Inverse of RO

http://purl.bioontology.org/ontology/MESH/D020107

http://purl.bioontology.org/ontology/MESH/D024723

http://purl.bioontology.org/ontology/MESH/D024722

http://purl.bioontology.org/ontology/MESH/D014335

Inverse of SIB

http://purl.bioontology.org/ontology/MESH/D015785

http://purl.bioontology.org/ontology/MESH/D000745

http://purl.bioontology.org/ontology/MESH/D014898

http://purl.bioontology.org/ontology/MESH/D020294

http://purl.bioontology.org/ontology/MESH/D058631

http://purl.bioontology.org/ontology/MESH/D025861

http://purl.bioontology.org/ontology/MESH/D010004

http://purl.bioontology.org/ontology/MESH/D009958

http://purl.bioontology.org/ontology/MESH/D053306

http://purl.bioontology.org/ontology/MESH/D050174

http://purl.bioontology.org/ontology/MESH/D009386

http://purl.bioontology.org/ontology/MESH/D010381

http://purl.bioontology.org/ontology/MESH/D040181

http://purl.bioontology.org/ontology/MESH/D000072661

http://purl.bioontology.org/ontology/MESH/D031845

http://purl.bioontology.org/ontology/MESH/D001260

http://purl.bioontology.org/ontology/MESH/D050010

http://purl.bioontology.org/ontology/MESH/D010009

http://purl.bioontology.org/ontology/MESH/D020271

http://purl.bioontology.org/ontology/MESH/D016738

http://purl.bioontology.org/ontology/MESH/D009261

http://purl.bioontology.org/ontology/MESH/D065768

http://purl.bioontology.org/ontology/MESH/D000699

http://purl.bioontology.org/ontology/MESH/D009136

http://purl.bioontology.org/ontology/MESH/D000077428

http://purl.bioontology.org/ontology/MESH/D009800

http://purl.bioontology.org/ontology/MESH/D000071070

http://purl.bioontology.org/ontology/MESH/D002636

http://purl.bioontology.org/ontology/MESH/D056660

http://purl.bioontology.org/ontology/MESH/D056685

http://purl.bioontology.org/ontology/MESH/D054179

http://purl.bioontology.org/ontology/MESH/D056731

http://purl.bioontology.org/ontology/MESH/D046589

http://purl.bioontology.org/ontology/MESH/D053840

http://purl.bioontology.org/ontology/MESH/D025063

http://purl.bioontology.org/ontology/MESH/D058747

http://purl.bioontology.org/ontology/MESH/D010013

http://purl.bioontology.org/ontology/MESH/D056735

http://purl.bioontology.org/ontology/MESH/D008661

http://purl.bioontology.org/ontology/MESH/D052159

http://purl.bioontology.org/ontology/MESH/D003966

http://purl.bioontology.org/ontology/MESH/D029502

http://purl.bioontology.org/ontology/MESH/D007619

http://purl.bioontology.org/ontology/MESH/D049970

http://purl.bioontology.org/ontology/MESH/D004392

http://purl.bioontology.org/ontology/MESH/D006453

http://purl.bioontology.org/ontology/MESH/D017436

http://purl.bioontology.org/ontology/MESH/D056684

http://purl.bioontology.org/ontology/MESH/D003550

http://purl.bioontology.org/ontology/MESH/D019896

http://purl.bioontology.org/ontology/MESH/D055947

http://purl.bioontology.org/ontology/MESH/D012873

http://purl.bioontology.org/ontology/MESH/D000312

http://purl.bioontology.org/ontology/MESH/D008382

Machine permutation

2002

Mapped from

http://purl.bioontology.org/ontology/MESH/C566044

http://purl.bioontology.org/ontology/MESH/C566169

http://purl.bioontology.org/ontology/MESH/C563866

http://purl.bioontology.org/ontology/MESH/C566171

http://purl.bioontology.org/ontology/MESH/C567684

http://purl.bioontology.org/ontology/MESH/C567681

http://purl.bioontology.org/ontology/MESH/C563865

http://purl.bioontology.org/ontology/MESH/C563436

http://purl.bioontology.org/ontology/MESH/C567419

http://purl.bioontology.org/ontology/MESH/C566170

http://purl.bioontology.org/ontology/MESH/C567686

http://purl.bioontology.org/ontology/MESH/C566005

MDA

20010725

MMR

20130708

MN

C14.280.484.150.070.160.500

C14.280.238.100.500

C16.320.160

notation

D024741

prefLabel

Cardiomyopathy, Hypertrophic, Familial

TERMUI

T548677

T548676

T834088

T427490

T751035

T834087

T834089

T432009

T548678

TH

NLM (2002)

NLM (2010)

NLM (2014)

ORD (2010)

NLM (2005)

OMIM (2013)

tui

T019

T047

subClassOf

http://purl.bioontology.org/ontology/MESH/D002312

http://purl.bioontology.org/ontology/MESH/D030342

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Delete Mapping To Ontology Source
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.160 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/601253 OMIM CUI
http://purl.bioontology.org/ontology/SNMI/D4-31A32 SNMI CUI
http://purl.bioontology.org/ontology/ICD10CM/I42.1 ICD10CM CUI
http://purl.bioontology.org/ontology/OMIM/590045 OMIM CUI
http://purl.jp/bio/4/id/200906032560711811 IOBC LOOM
http://purl.jp/bio/4/id/200906032560711811 IOBC LOOM
http://purl.jp/bio/4/id/200906032560711811 IOBC LOOM
http://purl.bioontology.org/ontology/SNMI/D3-23120 SNMI 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/NDFRT/N0000011119 NDFRT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/83978005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/360465008 SNOMEDCT CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.280.238.100.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/192600 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/192600 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10021230 MEDDRA CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D024741 RH-MESH LOOM
http://purl.bioontology.org/ontology/CSP/0724-8626 CRISP CUI
http://purl.bioontology.org/ontology/CSP/0724-8626 CRISP CUI