loading...| Preferred Name |
Mendelian disease |
|
| Synonyms |
genetic disorder hereditary disease or disorder inherited genetic disease hereditary disease inherited disease genetic condition molecular disease hereditary diseases genetic disease inborn disorder familial disorder |
|
| Definitions |
Usage note: this is intended only for diseases with an inherited genetic etiology. Somatic genetic mutations are excluded. Some ontologies use the term 'genetic disease' in the sense of inherited disorders only, we are here careful to distinguish. A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0003847 |
|
| comment |
Usage note: this is intended only for diseases with an inherited genetic etiology. Somatic genetic mutations are excluded. Some ontologies use the term 'genetic disease' in the sense of inherited disorders only, we are here careful to distinguish. |
|
| closeMatch | ||
| conformsTo |
http://purl.obolibrary.org/obo/mondo/patterns/hereditary.yaml |
|
| database_cross_reference |
EFO:0000508 UMLS:C0019247 NCIT:C3101 MESH:D030342 SCTID:32895009 ICD9:799.89 DOID:630 |
|
| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C3101 http://purl.obolibrary.org/obo/DOID_630 http://identifiers.org/mesh/D030342 |
|
| has broad synonym |
genetic disorder genetic disease genetic condition |
|
| has exact synonym |
genetic disorder hereditary disease or disorder inherited genetic disease hereditary disease inherited disease genetic condition molecular disease hereditary diseases |
|
| has modifier | ||
| has related synonym |
inborn disorder familial disorder |
|
| id |
MONDO:0003847 |
|
| imported from | ||
| label |
Mendelian disease |
|
| notation |
MONDO:0003847 |
|
| prefLabel |
Mendelian disease |
|
| textual definition |
A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome. |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0003847 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0003847 | OBA | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0003847 | GCBO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0003847 | DOVES | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0003847 | GENEPIO | SAME_URI |