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 | SEPIO-CG:98901 | GeneticCondition |
| phenotype | @id | 0..* | Phenotypes used to define a particular GeneticCondition | SEPIO-CG:98902 | GeneticCondition |
| gene | @id | 0..1 | The gene used to define a particular GeneticCondition | SEPIO:0000278 | GeneticCondition |
| inheritancePattern | @id | 0..1 | The manner in which a genetic condition is inherited | RO:0000091 | 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 | gene | inheritancePattern |
|---|---|---|---|---|---|---|
|
Breast Ovarian Cancer, Autosomal Dominant |
(hereditary breast ovarian cancer) | (Autosomal dominant inheritance) | ||||
|
desmin related myopathy |
(myofibrillar myopathy 1) | |||||
|
Epilepsy with Mental Retardation |
||||||
|
PCD autosomal recessive w/ outer dynein arm (ODA) defects |
(Primary ciliary dyskenisia) | (Absent/shortened dynein arms) | (Autosomal recessive inheritance) | |||
|
Primary familial hypertrophic cardiomyopathy, Autosomal Dominant |
(hypertrophic cardiomyopathy) | (Autosomal dominant inheritance) | ||||
|
hereditary breast and ovarian cancer |
(hereditary breast and ovarian cancer syndrome) | |||||
|
Pseudoachondroplastic spondyloepiphyseal dysplasia |
(pseudoachondroplasia) | |||||
|
Hearing Loss |
(nonsyndromic deafness) | |||||
|
Rasopathy |
(Noonan syndrome and noonan-related syndrom) | |||||
|
Breast Ovarian Cancer, Autosomal Dominant |
(hereditary breast ovarian cancer) | (Autosomal dominant inheritance) | ||||
|
Breast Ovarian Cancer, Autosomal Dominant |
(hereditary breast ovarian cancer) | (Autosomal dominant inheritance) | ||||
|
Hearing Loss |
(nonsyndromic deafness) | |||||
|
Hearing Loss |
(nonsyndromic deafness) | |||||
|
Hearing Loss, Autosomal Recessive |
(nonsyndromic deafness) | (Autosomal recessive inheritance) | ||||
|
Hearing Loss, Autosomal Recessive |
(nonsyndromic deafness) | (Autosomal recessive inheritance) | ||||
|
hereditary breast and ovarian cancer |
(hereditary breast and ovarian cancer syndrome) | |||||
| (dilated cardiomyopathy) | (Autosomal dominant inheritance) | |||||
| (noonan syndrome) | (Autosomal dominant inheritance) | |||||
| (Primary ciliary dyskenisia) | ||||||
| (costello syndrome) | (Autosomal dominant inheritance) | |||||
| (noonan syndrome 3) | ||||||
| (cardiomyopathy) | (Autosomal dominant inheritance) | |||||
| (nonsyndromic deafness) | (GIPC3) | (Autosomal recessive inheritance) | ||||
| (Malignant hyperthermia) | (Autosomal dominant inheritance) | |||||
| (Abnormal Glucose Homeostasis) | ||||||
| (Fabry disease) | (X-linked inheritance (recessive)) | |||||
| (neuronal ceroid lipofuscinosis) | (TTP1) | (Autosomal recessive inheritance) | ||||
| (Ornithine carbamoyltransferase deficiency) | ||||||
| (Birt-Hogg-Dube Syndrome) | ||||||
| (cardiofaciocutaneous syndrome) | ||||||
| (hypertrophic cardiomyopathy) | (Autosomal dominant inheritance) | |||||
| (Usher syndrome) | (Autosomal recessive inheritance) | |||||
| (hereditary hemorrhagic telangiectasia) | (Autosomal dominant inheritance) | |||||
| (Breast-Ovarian Cancer, Familial, Susceptibility To, 2) | (Autosomal dominant inheritance) | |||||
| (Myopathy, Distal, type 4) | (Autosomal dominant inheritance) | |||||
| (Cystic Fibrosis) | (Autosomal recessive inheritance) | |||||
| (Marfan Syndrome) | (Autosomal dominant inheritance) | |||||
| (Mitochondrial complex 1 deficiency) | (X-linked inheritance (dominant)) | |||||
| (Perrault Syndrome) | (Autosomal recessive inheritance) | |||||
| (Wiedemann-Steiner syndrome) | (Autosomal dominant inheritance) | |||||
| (Familial Adenomatous Polyposis) | (Autosomal dominant inheritance) | |||||
| (Hypercholesterolemia, Familial) | (Autosomal dominant inheritance) | |||||
| (Fanconi Anemia) | ||||||
| (Retinitis Pigmentosa) | ||||||
| (Absent vas deferens) | ||||||
| (Primary bone dysplasia) | ||||||
| (pseudoachondroplasia) | ||||||
| (Breast-Ovarian Cancer, Familial, Susceptibility To, 2) | ||||||
| (Gyrate atrophy of choroid and retina) | ||||||
| (Primary ciliary dyskenisia) | (Autosomal recessive inheritance) | |||||
| (arrhythmogenic right ventricular cardiomyopathy) | ||||||
| (dilated cardiomyopathy) | ||||||
| (dilated cardiomyopathy) | ||||||
| (dilated cardiomyopathy) | ||||||
| (arrhythmogenic right ventricular cardiomyopathy) | ||||||
| (noonan syndrome) | (Autosomal dominant inheritance) | |||||
| (noonan syndrome) | (Autosomal dominant inheritance) | |||||
| (nonsyndromic deafness) | ||||||
| (Primary ciliary dyskenisia) | (Autosomal recessive inheritance) | |||||
| (Primary ciliary dyskenisia) | (Autosomal recessive inheritance) | |||||
| (hypertrophic cardiomyopathy) | ||||||
| (hypertrophic cardiomyopathy) | (Autosomal dominant inheritance) | |||||
| (hypertrophic cardiomyopathy) | (Autosomal dominant inheritance) | |||||
| (hypertrophic cardiomyopathy) | ||||||
| (cardiofaciocutaneous syndrome) | ||||||
| (cardiofaciocutaneous syndrome) | ||||||
| (cardiofaciocutaneous syndrome) | (Autosomal dominant inheritance) | |||||
| (Usher syndrome) | (Autosomal recessive inheritance) | |||||
| (Marfan Syndrome) | (Autosomal dominant inheritance) | |||||
| (arrhythmogenic right ventricular cardiomyopathy) | (Autosomal dominant inheritance) | |||||
| (noonan syndrome) | (Autosomal dominant inheritance) |