Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

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Preferred Name	FAMILIAL ADENOMATOUS POLYPOSIS 1
Synonyms	ADENOMATOUS POLYPOSIS OF THE COLON ADENOMATOUS POLYPOSIS COLI, ATTENUATED FAMILIAL POLYPOSIS OF THE COLON AAPC GS FAP1 AFAP APC BRAIN TUMOR-POLYPOSIS SYNDROME 2 BTPS2 FPC GARDNER SYNDROME ADENOMA, PERIAMPULLARY, SOMATIC POLYPOSIS, ADENOMATOUS INTESTINAL FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED
ID	http://purl.bioontology.org/ontology/OMIM/175100
altLabel	ADENOMATOUS POLYPOSIS OF THE COLON ADENOMATOUS POLYPOSIS COLI, ATTENUATED FAMILIAL POLYPOSIS OF THE COLON AAPC GS FAP1 AFAP APC BRAIN TUMOR-POLYPOSIS SYNDROME 2 BTPS2 FPC GARDNER SYNDROME ADENOMA, PERIAMPULLARY, SOMATIC POLYPOSIS, ADENOMATOUS INTESTINAL FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED
cui	C2673224 C2674616 C0017097 C2713442 C0032580 C2673218
Gene Locus	5q22.2
Gene Symbol	APC FPC GS BTPS2 DESMD
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU016120 http://purl.bioontology.org/ontology/OMIM/MTHU016115 http://purl.bioontology.org/ontology/OMIM/MTHU004627 http://purl.bioontology.org/ontology/OMIM/MTHU016119 http://purl.bioontology.org/ontology/OMIM/MTHU008963 http://purl.bioontology.org/ontology/OMIM/MTHU016135 http://purl.bioontology.org/ontology/OMIM/MTHU016124 http://purl.bioontology.org/ontology/OMIM/MTHU016132 http://purl.bioontology.org/ontology/OMIM/MTHU016128 http://purl.bioontology.org/ontology/OMIM/MTHU016123 http://purl.bioontology.org/ontology/OMIM/MTHU016131 http://purl.bioontology.org/ontology/OMIM/MTHU037104 http://purl.bioontology.org/ontology/OMIM/MTHU016138 http://purl.bioontology.org/ontology/OMIM/MTHU016116 http://purl.bioontology.org/ontology/OMIM/MTHU016117 http://purl.bioontology.org/ontology/OMIM/MTHU016129 http://purl.bioontology.org/ontology/OMIM/MTHU016125 http://purl.bioontology.org/ontology/OMIM/MTHU016130 http://purl.bioontology.org/ontology/OMIM/MTHU016121 http://purl.bioontology.org/ontology/OMIM/MTHU016134 http://purl.bioontology.org/ontology/OMIM/MTHU007922 http://purl.bioontology.org/ontology/OMIM/MTHU016127 http://purl.bioontology.org/ontology/OMIM/MTHU016126 http://purl.bioontology.org/ontology/OMIM/MTHU016133 http://purl.bioontology.org/ontology/OMIM/MTHU016122 http://purl.bioontology.org/ontology/OMIM/MTHU007081 http://purl.bioontology.org/ontology/OMIM/MTHU016136 http://purl.bioontology.org/ontology/OMIM/MTHU016137 http://purl.bioontology.org/ontology/OMIM/MTHU016118
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	175100
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	FAMILIAL ADENOMATOUS POLYPOSIS 1
Scope Statement	Caused by mutation in the APC regulator of WNT signaling pathway gene (APC, 611731.0001) [MOLECULAR BASIS] Polyps occur in teens [MISCELLANEOUS] Prevalence 1 in 8000 [MISCELLANEOUS] Colorectal cancer develops by fourth decade in untreated patients [MISCELLANEOUS]
tui	T047 T191

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNOMEDCT/715866009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MDRGER/10017727	MDRGER	CUI
http://purl.bioontology.org/ontology/MESH/D011125	MESH	CUI
http://purl.bioontology.org/ontology/SCTSPA/70921007	SCTSPA	CUI
http://purl.bioontology.org/ontology/MESH/C566778	MESH	CUI
http://purl.bioontology.org/ontology/SCTSPA/715866009	SCTSPA	CUI
http://purl.bioontology.org/ontology/MESH/C538265	MESH	CUI
http://purl.bioontology.org/ontology/MDRFRE/10017727	MDRFRE	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/60876000	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/CSP/2010-0350	CRISP	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001310	NDFRT	CUI
http://purl.bioontology.org/ontology/MSHFRE/D005736	MSHFRE	CUI
http://purl.bioontology.org/ontology/MESH/D005736	MESH	CUI
http://purl.bioontology.org/ontology/MEDDRA/10017727	MEDDRA	CUI
http://purl.bioontology.org/ontology/SNMI/D4-01039	SNMI	CUI
http://purl.bioontology.org/ontology/SCTSPA/60876000	SCTSPA	CUI
http://purl.bioontology.org/ontology/RCD/XaEDW	RCD	CUI
http://purl.bioontology.org/ontology/SNMI/M-82200	SNMI	CUI
http://purl.bioontology.org/ontology/MSTDE-FRE/MT220034	MSTDE-FRE	CUI
http://purl.bioontology.org/ontology/ICD10CM/D13.91	ICD10CM	CUI
http://purl.bioontology.org/ontology/MDRFRE/10059327	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRGER/10036135	MDRGER	CUI
http://purl.bioontology.org/ontology/MESH/D011125	MESH	CUI
http://purl.bioontology.org/ontology/SCTSPA/423471004	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/72900001	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/ICPC2P/D78004	ICPC2P	CUI
http://purl.bioontology.org/ontology/CSP/2010-0350	CRISP	CUI
http://purl.bioontology.org/ontology/MDRGER/10059327	MDRGER	CUI
http://purl.bioontology.org/ontology/SNMI/D5-45490	SNMI	CUI
http://purl.bioontology.org/ontology/MDRGER/10057848	MDRGER	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/70921007	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/RCD/BB5N0	RCD	CUI
http://purl.bioontology.org/ontology/MDRFRE/10036135	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRFRE/10057848	MDRFRE	CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000042839	PDQ	CUI
http://purl.bioontology.org/ontology/MEDDRA/10056981	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRGER/10056981	MDRGER	CUI
http://purl.bioontology.org/ontology/MSHFRE/D011125	MSHFRE	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002457	NDFRT	CUI
http://purl.bioontology.org/ontology/MSTDE/MT220034	MSTDE	CUI
http://purl.bioontology.org/ontology/SCTSPA/72900001	SCTSPA	CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000725405	PDQ	CUI
http://purl.bioontology.org/ontology/MEDDRA/10036135	MEDDRA	CUI
http://purl.bioontology.org/ontology/CSP/4005-0002	CRISP	CUI
http://purl.bioontology.org/ontology/MEDDRA/10059327	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10056981	MDRFRE	CUI
http://purl.bioontology.org/ontology/RCD/XE2xj	RCD	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/423471004	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/CSP/4006-0027	CRISP	CUI
http://purl.bioontology.org/ontology/MEDDRA/10057848	MEDDRA	CUI
http://purl.obolibrary.org/obo/MONDO_0021056	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0021056	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0021056	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0021056	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0021056	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0021056	DOVES	LOOM
http://purl.obolibrary.org/obo/DOID_0080409	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0080409	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0080409	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0080409	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0080409	FNS-H	LOOM