loading...| Preferred Name |
familial adenomatous polyposis |
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| Synonyms |
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| Definitions |
OMIM mapping confirmed by DO. [SN]. An autosomal dominant disease that is has material basis in mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0050424 |
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| comment |
OMIM mapping confirmed by DO. [SN]. |
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| definition |
An autosomal dominant disease that is has material basis in mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer. |
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| hasDbXref |
SNOMEDCT_US_2016_03_01:72900001 UMLS_CUI:C0032580 SNOMEDCT_US_2016_03_01:188828009 MESH:D011125 UMLS_CUI:C2713443 OMIM:608456 OMIM:175100 SNOMEDCT_US_2016_03_01:154609001 SNOMEDCT_US_2016_03_01:70921007 SNOMEDCT_US_2016_03_01:269636003 NCI:C3339 SNOMEDCT_US_2016_03_01:423471004 UMLS_CUI:C2713442 |
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| hasExactSynonym |
adenomatous polyposis of the colon |
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| hasOBONamespace |
disease_ontology |
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| id |
DOID:0050424 |
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| imported from | ||
| label |
familial adenomatous polyposis |
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| prefixIRI |
DOID:0050424 |
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| prefLabel |
familial adenomatous polyposis |
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| subClassOf |
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