Preferred Name | autosomal genetic disease | |
Synonyms |
autosomal inherited disorder autosomal hereditary disorder autosomal inherited disease |
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Definitions |
A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes. |
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ID |
http://purl.obolibrary.org/obo/MONDO_0000429 |
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alternative label |
autosomal inherited disorder autosomal hereditary disorder autosomal inherited disease |
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has exact synonym |
autosomal inherited disorder autosomal hereditary disorder autosomal inherited disease |
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hasDbXref |
DOID:0050739 UMLS:C0265384 SCTID:1899006 ICD9:758.5 |
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imported from | ||
label |
autosomal genetic disease |
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prefixIRI |
MONDO:0000429 |
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prefLabel |
autosomal genetic disease |
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textual definition |
A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes. |
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subClassOf |
Create mapping