loading...| Preferred Name | hereditary disease | |
| Synonyms |
Mendelian disease inborn disorder familial disorder genetic disorder genetic disease genetic condition hereditary disease or disorder inherited genetic disease hereditary disease inherited disease molecular disease hereditary diseases |
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| Definitions |
A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome. 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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| 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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| database_cross_reference |
EFO:0000508 UMLS:C0019247 NCIT:C3101 MESH:D030342 SCTID:32895009 ICD9:799.89 DOID:630 |
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| definition |
A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome. |
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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 | ||
| has_broad_synonym |
genetic disorder genetic disease genetic condition |
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| has_exact_synonym |
hereditary disease or disorder inherited genetic disease hereditary disease inherited disease molecular disease hereditary diseases |
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| has_narrow_synonym |
Mendelian disease |
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| has_related_synonym |
inborn disorder familial disorder |
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| id |
MONDO:0003847 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo#otar |
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| label |
hereditary disease |
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| notation |
MONDO:0003847 |
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| prefLabel |
hereditary disease |
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| treeView | ||
| subClassOf |