Preferred Name

genetic disorder

Synonyms

hereditary disorder

Definitions

general term for any disorder caused by a genetic mechanism, comprising chromosome aberrations or anomalies, mendelian or monogenic or single-gene disorders, and multifactorial disorders; note that all genetic disorders are not treed under this term; see RTs for others; in addition, many disorders not treed here or under RTs may have a genetic component.

ID

http://purl.bioontology.org/ontology/CSP/1254-7727

altLabel

hereditary disorder

malformation

Alstrom syndrome

Bardet Biedel syndrome

Leigh disease

familial disorder

deformity

Clouston's syndrome

Rabson Mendenhall syndrome

familial Mediterranean fever

hereditary cerebellar degeneration

Joubert syndrome

subacute necrotizing encephalomyelopathy

corneal dystrophy

LEOPARD syndrome

Multiple Lentigines

Laurence Moon Biedl syndrome

cui

C0000768

C0431399

C0023264

C0270752

C1328931

C0162361

C0271695

C0023138

C0277558

C0010036

C0268425

C0031069

C0175704

C0019247

C0872106

definition

general term for any disorder caused by a genetic mechanism, comprising chromosome aberrations or anomalies, mendelian or monogenic or single-gene disorders, and multifactorial disorders; note that all genetic disorders are not treed under this term; see RTs for others; in addition, many disorders not treed here or under RTs may have a genetic component.

DID

1254-7727

Inverse of RB

http://purl.bioontology.org/ontology/CSP/0944-4756

Inverse of RN

http://purl.bioontology.org/ontology/CSP/4006-0058

http://purl.bioontology.org/ontology/CSP/1849-5992

http://purl.bioontology.org/ontology/CSP/0438-6751

http://purl.bioontology.org/ontology/CSP/2042-7013

http://purl.bioontology.org/ontology/CSP/1849-7560

http://purl.bioontology.org/ontology/CSP/2009-6300

http://purl.bioontology.org/ontology/CSP/1849-0285

http://purl.bioontology.org/ontology/CSP/1849-8016

http://purl.bioontology.org/ontology/CSP/1849-7175

http://purl.bioontology.org/ontology/CSP/1254-7954

http://purl.bioontology.org/ontology/CSP/1849-6662

http://purl.bioontology.org/ontology/CSP/1849-0228

http://purl.bioontology.org/ontology/CSP/2018-3452

http://purl.bioontology.org/ontology/CSP/5002-0020

http://purl.bioontology.org/ontology/CSP/1849-9804

http://purl.bioontology.org/ontology/CSP/1849-3115

http://purl.bioontology.org/ontology/CSP/1849-6776

http://purl.bioontology.org/ontology/CSP/0438-9190

http://purl.bioontology.org/ontology/CSP/4001-0003

http://purl.bioontology.org/ontology/CSP/5005-0002

http://purl.bioontology.org/ontology/CSP/0438-3499

http://purl.bioontology.org/ontology/CSP/0725-1693

http://purl.bioontology.org/ontology/CSP/1849-7617

http://purl.bioontology.org/ontology/CSP/2012-7338

http://purl.bioontology.org/ontology/CSP/0485-2495

http://purl.bioontology.org/ontology/CSP/0726-9627

http://purl.bioontology.org/ontology/CSP/1114-8721

http://purl.bioontology.org/ontology/CSP/2716-6258

http://purl.bioontology.org/ontology/CSP/1849-1804

http://purl.bioontology.org/ontology/CSP/1849-9833

http://purl.bioontology.org/ontology/CSP/0427-1524

http://purl.bioontology.org/ontology/CSP/0726-9169

http://purl.bioontology.org/ontology/CSP/5001-0009

http://purl.bioontology.org/ontology/CSP/2057-3283

http://purl.bioontology.org/ontology/CSP/0727-2535

http://purl.bioontology.org/ontology/CSP/0725-5371

http://purl.bioontology.org/ontology/CSP/0438-2686

http://purl.bioontology.org/ontology/CSP/0726-9470

http://purl.bioontology.org/ontology/CSP/4001-0143

http://purl.bioontology.org/ontology/CSP/4008-0043

http://purl.bioontology.org/ontology/CSP/0438-7564

http://purl.bioontology.org/ontology/CSP/2586-8897

http://purl.bioontology.org/ontology/CSP/4006-0098

http://purl.bioontology.org/ontology/CSP/0725-9662

http://purl.bioontology.org/ontology/CSP/2928-6976

http://purl.bioontology.org/ontology/CSP/1114-9526

http://purl.bioontology.org/ontology/CSP/1849-0057

http://purl.bioontology.org/ontology/CSP/4007-0003

http://purl.bioontology.org/ontology/CSP/4001-0114

http://purl.bioontology.org/ontology/CSP/0485-3493

http://purl.bioontology.org/ontology/CSP/1418-5657

http://purl.bioontology.org/ontology/CSP/5000-0055

http://purl.bioontology.org/ontology/CSP/0427-1870

http://purl.bioontology.org/ontology/CSP/1849-0171

Inverse of RO

http://purl.bioontology.org/ontology/CSP/1849-8073

http://purl.bioontology.org/ontology/CSP/2871-4352

http://purl.bioontology.org/ontology/CSP/4008-0105

http://purl.bioontology.org/ontology/CSP/0427-0659

http://purl.bioontology.org/ontology/CSP/4001-0050

http://purl.bioontology.org/ontology/CSP/0467-3154

http://purl.bioontology.org/ontology/CSP/0427-0832

http://purl.bioontology.org/ontology/CSP/1114-9741

http://purl.bioontology.org/ontology/CSP/0723-1051

http://purl.bioontology.org/ontology/CSP/0429-1873

http://purl.bioontology.org/ontology/CSP/2715-1220

http://purl.bioontology.org/ontology/CSP/2716-6089

Inverse of SIB

http://purl.bioontology.org/ontology/CSP/2587-5807

http://purl.bioontology.org/ontology/CSP/4000-0257

http://purl.bioontology.org/ontology/CSP/1579-2995

http://purl.bioontology.org/ontology/CSP/2483-6609

http://purl.bioontology.org/ontology/CSP/0571-0209

http://purl.bioontology.org/ontology/CSP/3045-8726

http://purl.bioontology.org/ontology/CSP/5002-0022

http://purl.bioontology.org/ontology/CSP/2000-0173

http://purl.bioontology.org/ontology/CSP/1114-8096

http://purl.bioontology.org/ontology/CSP/2341-6246

http://purl.bioontology.org/ontology/CSP/2146-8713

http://purl.bioontology.org/ontology/CSP/1582-3104

http://purl.bioontology.org/ontology/CSP/0531-6510

http://purl.bioontology.org/ontology/CSP/0729-7208

http://purl.bioontology.org/ontology/CSP/2116-6840

http://purl.bioontology.org/ontology/CSP/0944-7360

http://purl.bioontology.org/ontology/CSP/0977-5187

http://purl.bioontology.org/ontology/CSP/5000-0012

http://purl.bioontology.org/ontology/CSP/1025-5693

http://purl.bioontology.org/ontology/CSP/2716-5992

http://purl.bioontology.org/ontology/CSP/0944-5779

http://purl.bioontology.org/ontology/CSP/4001-0049

http://purl.bioontology.org/ontology/CSP/1560-4280

http://purl.bioontology.org/ontology/CSP/0427-7757

http://purl.bioontology.org/ontology/CSP/4000-0216

http://purl.bioontology.org/ontology/CSP/0944-7801

http://purl.bioontology.org/ontology/CSP/4000-0163

http://purl.bioontology.org/ontology/CSP/2042-2001

http://purl.bioontology.org/ontology/CSP/2596-0107

http://purl.bioontology.org/ontology/CSP/0723-1051

http://purl.bioontology.org/ontology/CSP/0427-3600

http://purl.bioontology.org/ontology/CSP/1846-2030

notation

1254-7727

prefLabel

genetic disorder

tui

T019

T047

subClassOf

http://purl.bioontology.org/ontology/CSP/0944-4756

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http://purl.bioontology.org/ontology/SNOMEDCT/21390004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D4-01048 SNMI CUI
http://purl.bioontology.org/ontology/RCD/X77rY RCD CUI
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http://purl.bioontology.org/ontology/OMIM/245800 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10011005 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD9CM/759.9 ICD9CM CUI
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http://purl.bioontology.org/ontology/OMIM/608107 OMIM CUI
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http://www.projecthalo.com/aura#Genetic-Disorder AURA LOOM
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http://purl.bioontology.org/ontology/SNMI/D4-01104 SNMI CUI
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http://purl.bioontology.org/ontology/MESH/D004476 MESH CUI
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http://purl.bioontology.org/ontology/ICD9CM/277.31 ICD9CM CUI
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http://purl.bioontology.org/ontology/MEDDRA/10012563 MEDDRA CUI
http://purl.bioontology.org/ontology/WHO/1256 WHO-ART CUI
http://purl.bioontology.org/ontology/SNMI/DA-22027 SNMI CUI
http://purl.bioontology.org/ontology/LNC/LA20354-9 LOINC CUI
http://purl.bioontology.org/ontology/OMIM/256000 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/MTHU015719 OMIM CUI
http://purl.bioontology.org/ontology/MESH/D007849 MESH CUI
http://purl.bioontology.org/ontology/OMIM/612360 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/29570005 SNOMEDCT CUI
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http://purl.bioontology.org/ontology/SNMI/DA-75401 SNMI CUI
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http://purl.bioontology.org/ontology/MESH/D056731 MESH CUI
http://purl.bioontology.org/ontology/MESH/C536293 MESH CUI
http://purl.bioontology.org/ontology/OMIM/249100 OMIM CUI
http://purl.bioontology.org/ontology/RCD/F10y1 RCD CUI
http://purl.bioontology.org/ontology/CST/ANOMALY%20CONGEN COSTART CUI
http://purl.bioontology.org/ontology/OMIM/MTHU000200 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/33559001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/716997004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10016211 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/129500 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10016207 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10068814 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10060920 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/262190 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10057210 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/X00e1 RCD CUI
http://purl.bioontology.org/ontology/LNC/MTHU021573 LOINC CUI
http://purl.bioontology.org/ontology/MEDDRA/10010357 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/D007888 MESH CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001790 NDFRT CUI
http://purl.bioontology.org/ontology/MEDDRA/10073859 MEDDRA CUI
http://purl.obolibrary.org/obo/HIO_0000375 HIO LOOM
http://purl.obolibrary.org/obo/HIO_0000375 HIO LOOM
http://scdontology.h3abionet.org/ontology/SCDO_0000445 SCDO LOOM
http://scdontology.h3abionet.org/ontology/SCDO_0000445 SCDO LOOM
http://purl.bioontology.org/ontology/OMIM/590060 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10002617 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10062950 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/Xa0Zf RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/54209007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10073864 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/151100 OMIM CUI
http://purl.bioontology.org/ontology/RCD/PKy1. RCD CUI
http://purl.bioontology.org/ontology/RCD/C3731 RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10010316 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10068783 MEDDRA CUI
http://purl.bioontology.org/ontology/SNMI/DF-00190 SNMI CUI
http://purl.bioontology.org/ontology/CST/TERAT COSTART CUI
http://purl.bioontology.org/ontology/ICD10CM/M04.1 ICD10CM CUI
http://purl.bioontology.org/ontology/SNMI/DA-20161 SNMI CUI
http://purl.bioontology.org/ontology/ICD10/Q89.9 ICD10 CUI
http://www.owl-ontologies.com/Ontology1358660052.owl#Genetic_Disorder PEDTERM LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/63702009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/OMIM/213300 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/MTHU039986 OMIM CUI
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http://purl.bioontology.org/ontology/OMIM/MTHU021421 OMIM CUI
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