Preferred Name | monogenic disease | |
Synonyms |
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Definitions |
A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele). |
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ID |
http://purl.obolibrary.org/obo/DOID_0050177 |
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definition |
A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele). |
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has_obo_namespace |
disease_ontology |
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id |
DOID:0050177 |
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imported from | ||
label |
monogenic disease |
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notation |
DOID:0050177 |
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prefLabel |
monogenic disease |
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subClassOf |
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