loading...| Preferred Name |
hereditary disease |
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| Synonyms |
hereditary disease or disorder inherited genetic disease molecular disease hereditary disease hereditary diseases inherited disease genetic condition genetic disorder genetic disease familial disorder inborn disorder Mendelian disease |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0003847 |
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| 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. |
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| conformsTo |
http://purl.obolibrary.org/obo/mondo/patterns/hereditary.yaml |
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| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C3101 http://purl.obolibrary.org/obo/DOID_630 http://identifiers.org/mesh/D030342 |
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| has characteristic | ||
| hasBroadSynonym |
genetic condition genetic disorder genetic disease |
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| hasDbXref |
UMLS:C0019247 EFO:0000508 MESH:D030342 ICD9:799.89 SCTID:32895009 DOID:630 NCIT:C3101 |
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| hasExactSynonym |
hereditary disease or disorder inherited genetic disease molecular disease hereditary disease hereditary diseases inherited disease |
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| hasNarrowSynonym |
Mendelian disease |
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| hasRelatedSynonym |
familial disorder inborn disorder |
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| IAO_0000115 |
A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome. |
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| id |
MONDO:0003847 |
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| inSubset | ||
| label |
hereditary disease |
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| notation |
MONDO:0003847 |
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| prefLabel |
hereditary disease |
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| subClassOf |