GeneticCondition

A disease, or a set of one or more co-occurring phenotypes, typically controlled by a single locus with a defined inheritance pattern.

SEPIO:0000219
Descended from DomainEntity

Scope and Usage

CB: It appears that most descriptions of mendelian conditions do emphasize the single-locus nature. (Many say monogenic, but single-locus makes more sense to me for something like a large-deletion?) The problem, perhapse is that we have allowed Mendelian Condition to contain terms that are not, strictly speaking, Mendelian conditions. For instance, parent nodes in a disease ontology which is a parent to many different monogenic diseases that all share similary phenotypic features (like hearing loss).

MB: I think the 'typically' accommodates this in the definition, but CG should add clarifying comments as noted above.

TODO:CG to add clarifying coments here about monogenic nature of mendelian conditions

Attributes

Name Type Cardinality Description IRI Defined in
disease @id 0..* The diseases that define the Genetic Condition BFO:0000051 GeneticCondition
phenotype @id 0..* Phenotypes used to define a particular GeneticCondition BFO:0000051 GeneticCondition
inheritancePattern @id 0..1 The manner in which a genetic condition is inherited RO:0000091 GeneticCondition
gene @id 0..1 The gene used to define a particular GeneticCondition RO:0000057 GeneticCondition
label string 0..1 A name given to the resource. RDFS:label Entity
description string 0..1 Description may include but is not limited to: an abstract, a table of contents, a graphical representation, or a free-text account of the resource. DC:description Entity

Instances

ID label description disease phenotype inheritancePattern gene

CGEX:GenCond001

Breast Ovarian Cancer, Autosomal Dominant

MESH:D061325

(hereditary breast ovarian cancer)

HP:0000006

(Autosomal Dominant)

CGEX:GenCond008

desmin related myopathy

OMIM:601419

(myofibrillar myopathy 1)

CGEX:GenCond009

Epilepsy with Mental Retardation

CGEX:GenCond014

PCD autosomal recessive w/ outer dynein arm (ODA) defects

Orphanet:244

(Primary ciliary dyskenisia)

HP:0200106

(Absent/shortened dynein arms)

HP:0000007

(Autosomal Recessive)

CGEX:GenCond016

Primary familial hypertrophic cardiomyopathy, Autosomal Dominant

Orphanet:217569

(hypertrophic cardiomyopathy)

HP:0000006

(Autosomal Dominant)

CGEX:GenCond036

hereditary breast and ovarian cancer

Orphanet:145

(hereditary breast and ovarian cancer syndrome)

CGEX:GenCond041

Pseudoachondroplastic spondyloepiphyseal dysplasia

Orphanet:750

(pseudoachondroplasia)

CGEX:GenCond048

Hearing Loss

Orphanet:87884

(nonsyndromic deafness)

CGEX:GenCond049

Rasopathy

Orphanet:98733

(Noonan syndrome and noonan-related syndrom)

CGEX:GenCond050

Breast Ovarian Cancer, Autosomal Dominant

MESH:D061325

(hereditary breast ovarian cancer)

HP:0000006

(Autosomal Dominant)

CGEX:GenCond051

Breast Ovarian Cancer, Autosomal Dominant

MESH:D061325

(hereditary breast ovarian cancer)

HP:0000006

(Autosomal Dominant)

CGEX:GenCond057

Hearing Loss

Orphanet:87884

(nonsyndromic deafness)

CGEX:GenCond058

Hearing Loss

Orphanet:87884

(nonsyndromic deafness)

CGEX:GenCond059

Hearing Loss, Autosomal Recessive

Orphanet:87884

(nonsyndromic deafness)

HP:0000007

(Autosomal Recessive)

CGEX:GenCond061

Hearing Loss, Autosomal Recessive

Orphanet:87884

(nonsyndromic deafness)

HP:0000007

(Autosomal Recessive)

CGEX:GenCond073

hereditary breast and ovarian cancer

Orphanet:145

(hereditary breast and ovarian cancer syndrome)

CGEX:GenCond002

Orphanet:217604

(dilated cardiomyopathy)

HP:0000006

(Autosomal Dominant)

CGEX:GenCond003

Orphanet:648

(noonan syndrome)

HP:0000006

(Autosomal Dominant)

CGEX:GenCond004

Orphanet:244

(Primary ciliary dyskenisia)

CGEX:GenCond005

Orphanet:3071

(costello syndrome)

HP:0000006

(Autosomal Dominant)

CGEX:GenCond006

OMIM:609942

(noonan syndrome 3)

CGEX:GenCond007

Orphanet:167848

(cardiomyopathy)

HP:0000006

(Autosomal Dominant)

CGEX:GenCond010

Orphanet:87884

(nonsyndromic deafness)

HP:0000007

(Autosomal Recessive)

HGNC:18183

(GIPC3)

CGEX:GenCond011

Orphanet:423

(Malignant hyperthermia)

HP:0000006

(Autosomal Dominant)

CGEX:GenCond012

HP:0011014

(Abnormal Glucose Homeostasis)

CGEX:GenCond013

Orphanet:324

(Fabry disease)

HP:0001419

(X linked recessive inheritance)

CGEX:GenCond015

Orphanet:216

(neuronal ceroid lipofuscinosis)

HP:0000007

(Autosomal Recessive)

HGNC:28848

(TTP1)

CGEX:GenCond017

Orphanet:664

(Ornithine carbamoyltransferase deficiency)

CGEX:GenCond018

Orphanet:122

(Birt-Hogg-Dube Syndrome)

CGEX:GenCond019

Orphanet:1340

(cardiofaciocutaneous syndrome)

CGEX:GenCond020

Orphanet:217569

(hypertrophic cardiomyopathy)

HP:0000006

(Autosomal Dominant)

CGEX:GenCond021

Orphanet:886

(Usher syndrome)

HP:0000007

(Autosomal Recessive)

CGEX:GenCond022

Orphanet:774

(hereditary hemorrhagic telangiectasia)

HP:0000006

(Autosomal Dominant)

CGEX:GenCond023

OMIM:612555

(Breast-Ovarian Cancer, Familial, Susceptibility To, 2)

HP:0000006

(Autosomal Dominant)

CGEX:GenCond024

OMIM:614065

(Myopathy, Distal, type 4)

HP:0000006

(Autosomal Dominant)

CGEX:GenCond025

Orphanet:586

(Cystic Fibrosis)

HP:0000007

(Autosomal Recessive)

CGEX:GenCond026

Orphanet:558

(Marfan Syndrome)

HP:0000006

(Autosomal Dominant)

CGEX:GenCond027

Orphanet:2609

(Mitochondrial complex 1 deficiency)

HP:0001423

(X-linked dominant inheritance)

CGEX:GenCond028

Orphanet:2855

(Perrault Syndrome)

HP:0000007

(Autosomal Recessive)

CGEX:GenCond029

Orphanet:319182

(Wiedemann-Steiner syndrome)

HP:0000006

(Autosomal Dominant)

CGEX:GenCond030

Orphanet:733

(Familial Adenomatous Polyposis)

HP:0000006

(Autosomal Dominant)

CGEX:GenCond035

OMIM:143890

(Hypercholesterolemia, Familial)

HP:0000006

(Autosomal Dominant)

CGEX:GenCond037

Orphanet:84

(Fanconi Anemia)

CGEX:GenCond038

Orphanet:791

(Retinitis Pigmentosa)

CGEX:GenCond039

HP:0012873

(Absent vas deferens)

CGEX:GenCond040

Orphanet:364526

(Primary bone dysplasia)

CGEX:GenCond042

Orphanet:750

(pseudoachondroplasia)

CGEX:GenCond043

OMIM:612555

(Breast-Ovarian Cancer, Familial, Susceptibility To, 2)

CGEX:GenCond044

Orphanet:414

(Gyrate atrophy of choroid and retina)

CGEX:GenCond045

Orphanet:244

(Primary ciliary dyskenisia)

HP:0000007

(Autosomal Recessive)

CGEX:GenCond046

Orphanet:247

(arrhythmogenic right ventricular cardiomyopathy)

CGEX:GenCond047

Orphanet:217604

(dilated cardiomyopathy)

CGEX:GenCond052

Orphanet:217604

(dilated cardiomyopathy)

CGEX:GenCond053

Orphanet:217604

(dilated cardiomyopathy)

CGEX:GenCond054

Orphanet:247

(arrhythmogenic right ventricular cardiomyopathy)

CGEX:GenCond055

Orphanet:648

(noonan syndrome)

HP:0000006

(Autosomal Dominant)

CGEX:GenCond056

Orphanet:648

(noonan syndrome)

HP:0000006

(Autosomal Dominant)

CGEX:GenCond060

Orphanet:87884

(nonsyndromic deafness)

CGEX:GenCond062

Orphanet:244

(Primary ciliary dyskenisia)

HP:0000007

(Autosomal Recessive)

CGEX:GenCond063

Orphanet:244

(Primary ciliary dyskenisia)

HP:0000007

(Autosomal Recessive)

CGEX:GenCond064

Orphanet:217569

(hypertrophic cardiomyopathy)

CGEX:GenCond065

Orphanet:217569

(hypertrophic cardiomyopathy)

HP:0000006

(Autosomal Dominant)

CGEX:GenCond066

Orphanet:217569

(hypertrophic cardiomyopathy)

HP:0000006

(Autosomal Dominant)

CGEX:GenCond067

Orphanet:217569

(hypertrophic cardiomyopathy)

CGEX:GenCond068

Orphanet:1340

(cardiofaciocutaneous syndrome)

CGEX:GenCond069

Orphanet:1340

(cardiofaciocutaneous syndrome)

CGEX:GenCond070

Orphanet:1340

(cardiofaciocutaneous syndrome)

HP:0000006

(Autosomal Dominant)

CGEX:GenCond071

Orphanet:886

(Usher syndrome)

HP:0000007

(Autosomal Recessive)

CGEX:GenCond072

Orphanet:558

(Marfan Syndrome)

HP:0000006

(Autosomal Dominant)

CGEX:GenCond074

Orphanet:247

(arrhythmogenic right ventricular cardiomyopathy)

HP:0000006

(Autosomal Dominant)

CGEX:GenCond075

Orphanet:648

(noonan syndrome)

HP:0000006

(Autosomal Dominant)