Medical Subject Headings

Last uploaded: November 5, 2019
Preferred Name

Genetic Diseases, Inborn

Synonyms

Disorders, Genetic

Definitions

Diseases caused by genetic mutations that are inherited from a parent's genome.

ID

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

altLabel

Disorders, Genetic

Genetic Diseases

Single Gene Defects

Disorder, Genetic

Hereditary Diseases

Defects, Single-Gene

Single-Gene Defect

Hereditary Disease

Inborn Genetic Diseases

Diseases, Hereditary

Disease, Genetic

Genetic Disorder

Diseases, Genetic

Inborn Genetic Disease

Defect, Single-Gene

Genetic Disease

Genetic Disease, Inborn

Diseases, Inborn Genetic

Disease, Hereditary

Genetic Disorders

Single-Gene Defects

Disease, Inborn Genetic

AN

general; prefer /genet with specific diseases

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

C0950123

C0037176

C0019247

DC

1

definition

Diseases caused by genetic mutations that are inherited from a parent's genome.

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.

DX

20020101

FX

D005826

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/D005826

Inverse of SIB

http://purl.bioontology.org/ontology/MESH/D000013

http://purl.bioontology.org/ontology/MESH/D005315

http://purl.bioontology.org/ontology/MESH/D007232

Machine permutation

2002; for HEREDITARY DISEASES see HEREDITARY DISEASES 1968-2001

Mapped from

http://purl.bioontology.org/ontology/MESH/C564245

http://purl.bioontology.org/ontology/MESH/C562738

http://purl.bioontology.org/ontology/MESH/C566821

http://purl.bioontology.org/ontology/MESH/C564320

http://purl.bioontology.org/ontology/MESH/C565963

http://purl.bioontology.org/ontology/MESH/C562405

http://purl.bioontology.org/ontology/MESH/C562708

http://purl.bioontology.org/ontology/MESH/C565141

http://purl.bioontology.org/ontology/MESH/C562378

http://purl.bioontology.org/ontology/MESH/C562707

http://purl.bioontology.org/ontology/MESH/C562751

http://purl.bioontology.org/ontology/MESH/C566123

http://purl.bioontology.org/ontology/MESH/C562717

http://purl.bioontology.org/ontology/MESH/C562711

http://purl.bioontology.org/ontology/MESH/C562470

http://purl.bioontology.org/ontology/MESH/C565152

http://purl.bioontology.org/ontology/MESH/C562856

http://purl.bioontology.org/ontology/MESH/C563984

http://purl.bioontology.org/ontology/MESH/C566343

http://purl.bioontology.org/ontology/MESH/C572568

MDA

20010725

MMR

20160609

MN

C16.320

notation

D030342

prefLabel

Genetic Diseases, Inborn

TERMUI

T019716

T444712

T019715

T000898783

T019718

T000898784

T446732

TH

NLM (2017)

UNK (19XX)

NLM (2002)

POPLINE (1978)

tui

T047

subClassOf

http://purl.bioontology.org/ontology/MESH/D009358

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http://purl.bioontology.org/ontology/MEDLINEPLUS/C0019247 MedlinePlus Health Topics CUI
http://purl.bioontology.org/ontology/LNC/MTHU021573 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/LNC/LP56740-1 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/LNC/MTHU025721 Logical Observation Identifier Names and Codes CUI