Preferred Name

genetic disorder

Synonyms

subacute necrotizing encephalomyelopathy

familial 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

subacute necrotizing encephalomyelopathy

Alstrom syndrome

Clouston's syndrome

Laurence Moon Biedl syndrome

hereditary disorder

hereditary cerebellar degeneration

Multiple Lentigines

Leigh disease

familial Mediterranean fever

malformation

Bardet Biedel syndrome

corneal dystrophy

LEOPARD syndrome

Rabson Mendenhall syndrome

deformity

Joubert syndrome

familial disorder

cui

C0010036

C0268425

C0270752

C0271695

C0031069

C0023138

C0431399

C0023264

C0752166

C0175704

C0000768

C0277558

C0162361

C1328931

C0019247

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/0427-1524

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Inverse of RO

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

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

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

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

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

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

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

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

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

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

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

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

notation

1254-7727

prefLabel

genetic disorder

tui

T047

T019

subClassOf

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

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Delete Mapping To Ontology Source
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http://www.ebi.ac.uk/efo/EFO_0000508 EFO LOOM
http://www.projecthalo.com/aura#Genetic-Disorder AURA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Genetic_Disorder OPE LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Genetic_Disorder PEDTERM LOOM
http://purl.obolibrary.org/obo/HIO_0000375 HIO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3101 NCIT LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050325 NATPRO LOOM
http://purl.obolibrary.org/obo/OGMS_0000047 HTN LOOM
http://purl.obolibrary.org/obo/OGMS_0000047 MFOMD LOOM
http://purl.obolibrary.org/obo/OGMS_0000047 OCD LOOM
http://purl.obolibrary.org/obo/OGMS_0000047 OHD LOOM
http://purl.obolibrary.org/obo/OGMS_0000047 NDDO LOOM
http://purl.obolibrary.org/obo/OGMS_0000047 VDOT LOOM
http://purl.obolibrary.org/obo/OGMS_0000047 BDO LOOM
http://purl.obolibrary.org/obo/OGMS_0000047 PNADO LOOM
http://purl.obolibrary.org/obo/OGMS_0000047 DDIEM LOOM
http://purl.obolibrary.org/obo/OGMS_0000047 SCDO LOOM
http://purl.obolibrary.org/obo/OGMS_0000047 SDO LOOM
http://purl.obolibrary.org/obo/OGMS_0000047 ONSTR LOOM
http://purl.obolibrary.org/obo/OGMS_0000047 OGMS LOOM
http://purl.obolibrary.org/obo/DOID_0050325 CLO LOOM