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loading...| Preferred Name |
No preferred name provided for selected language
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| Synonyms |
autosomal hereditary disorder autosomal inherited disease autosomal inherited disorder |
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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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| database_cross_reference |
UMLS:C0265384 DOID:0050739 SCTID:1899006 ICD9:758.5 |
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| 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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| exactMatch |
http://linkedlifedata.com/resource/umls/id/C0265384 |
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| has_exact_synonym |
autosomal hereditary disorder autosomal inherited disease autosomal inherited disorder |
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| id |
MONDO:0000429 |
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| label |
autosomal genetic disease |
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| notation |
MONDO:0000429 |
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| subClassOf |