Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Malignant gastrointestinal tract tumors (HP:0006749)

Parent Node:
Gastrointestinal carcinoma (HP:0002672)

..Starting node
..Adenocarcinoma of the intestines (HP:0040273)

Term ID:

40273

Name:

Adenocarcinoma of the intestines

Synonym:

Definition:

A malignant epithelial tumor with a glandular organization that originates in the intestines.

Comments:

Reference:

HP:0040273

Genes and Diseases:

Child Nodes:

........

Adenocarcinoma of the small intestine (HP:0040274)

................... HP:0006771 Duodenal adenocarcinoma
................... HP:0030411 Jejunal adenocarcinoma
................... HP:0030412 Ileal adenocarcinoma

........

Adenocarcinoma of the large intestine (HP:0040275)

................... HP:0030439 Anal canal adenocarcinoma
................... HP:0040276 Adenocarcinoma of the colon

Sister Nodes:

Hereditary nonpolyposis colorectal carcinoma (HP:0006716)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1		7
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis		3179
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome		385
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome		385
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1		2
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome		9
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome		1819
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome		2162
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis		592
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3		2
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	NTHL1 CL E G H	4913	8028	ORPHA:454840	NTHL1-related attenuated familial adenomatous polyposis		2
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	POLD1 CL E G H	5424	9175	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis		731
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	POLE CL E G H	5426	9177	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis		1129
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome		504
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0040273	HP:0040273	Adenocarcinoma of the intestines	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1		7
HP:0040273	HP:0040274	Adenocarcinoma of the small intestine	1	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040284 - Very rare	7
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0040273	HP:0040274	Adenocarcinoma of the small intestine	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0040273	HP:0040274	Adenocarcinoma of the small intestine	1	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis		3179
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome		385
HP:0040273	HP:0040274	Adenocarcinoma of the small intestine	1	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome		385
HP:0040273	HP:0040274	Adenocarcinoma of the small intestine	1	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome		385
HP:0040273	HP:0040274	Adenocarcinoma of the small intestine	1	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040284 - Very rare	2
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1		2
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	2
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome		9
HP:0040273	HP:0040274	Adenocarcinoma of the small intestine	1	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome		9
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0040273	HP:0040274	Adenocarcinoma of the small intestine	1	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0040273	HP:0040274	Adenocarcinoma of the small intestine	1	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome		1819
HP:0040273	HP:0040274	Adenocarcinoma of the small intestine	1	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome		2162
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	1
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis		592
HP:0040273	HP:0040274	Adenocarcinoma of the small intestine	1	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3		2
HP:0040273	HP:0040274	Adenocarcinoma of the small intestine	1	NTHL1 CL E G H	4913	8028	ORPHA:454840	NTHL1-related attenuated familial adenomatous polyposis		2
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	POLD1 CL E G H	5424	9175	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis		731
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	POLE CL E G H	5426	9177	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis		1129
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0040273	HP:0040274	Adenocarcinoma of the small intestine	1	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome		504
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	241
HP:0040273	HP:0040275	Adenocarcinoma of the large intestine	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0040273	HP:0030439	Anal canal adenocarcinoma	2	CL E G H
HP:0040273	HP:0030412	Ileal adenocarcinoma	2	CL E G H
HP:0040273	HP:0030411	Jejunal adenocarcinoma	2	CL E G H
HP:0040273	HP:0040276	Adenocarcinoma of the colon	2	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040284 - Very rare	7
HP:0040273	HP:0040276	Adenocarcinoma of the colon	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0040273	HP:0006771	Duodenal adenocarcinoma	2	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0040273	HP:0006771	Duodenal adenocarcinoma	2	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare	3179
HP:0040273	HP:0006771	Duodenal adenocarcinoma	2	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040284 - Very rare	385
HP:0040273	HP:0040276	Adenocarcinoma of the colon	2	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040283 - Occasional	385
HP:0040273	HP:0006771	Duodenal adenocarcinoma	2	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome		385
HP:0040273	HP:0040276	Adenocarcinoma of the colon	2	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040284 - Very rare	2
HP:0040273	HP:0040276	Adenocarcinoma of the colon	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	29
HP:0040273	HP:0040276	Adenocarcinoma of the colon	2	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040283 - Occasional	9
HP:0040273	HP:0006771	Duodenal adenocarcinoma	2	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040284 - Very rare	9
HP:0040273	HP:0040276	Adenocarcinoma of the colon	2	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0040273	HP:0006771	Duodenal adenocarcinoma	2	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome	.	1819
HP:0040273	HP:0006771	Duodenal adenocarcinoma	2	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome	.	2162
HP:0040273	HP:0040276	Adenocarcinoma of the colon	2	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	592
HP:0040273	HP:0006771	Duodenal adenocarcinoma	2	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3		2
HP:0040273	HP:0006771	Duodenal adenocarcinoma	2	NTHL1 CL E G H	4913	8028	ORPHA:454840	NTHL1-related attenuated familial adenomatous polyposis	HP:0040283 - Occasional	2
HP:0040273	HP:0040276	Adenocarcinoma of the colon	2	POLD1 CL E G H	5424	9175	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040283 - Occasional	731
HP:0040273	HP:0040276	Adenocarcinoma of the colon	2	POLE CL E G H	5426	9177	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040283 - Occasional	1129
HP:0040273	HP:0040276	Adenocarcinoma of the colon	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0040273	HP:0040276	Adenocarcinoma of the colon	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0040273	HP:0040276	Adenocarcinoma of the colon	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0040273	HP:0040276	Adenocarcinoma of the colon	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0040273	HP:0040276	Adenocarcinoma of the colon	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0040273	HP:0040276	Adenocarcinoma of the colon	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0040273	HP:0040276	Adenocarcinoma of the colon	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0040273	HP:0040276	Adenocarcinoma of the colon	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	11
HP:0040273	HP:0040276	Adenocarcinoma of the colon	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	40
HP:0040273	HP:0040276	Adenocarcinoma of the colon	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	26
HP:0040273	HP:0040276	Adenocarcinoma of the colon	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0040273	HP:0040276	Adenocarcinoma of the colon	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	5
HP:0040273	HP:0040276	Adenocarcinoma of the colon	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	42
HP:0040273	HP:0040276	Adenocarcinoma of the colon	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0040273	HP:0040276	Adenocarcinoma of the colon	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0040273	HP:0040276	Adenocarcinoma of the colon	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0040273	HP:0040276	Adenocarcinoma of the colon	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0040273	HP:0040276	Adenocarcinoma of the colon	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0040273	HP:0040276	Adenocarcinoma of the colon	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0040273	HP:0040276	Adenocarcinoma of the colon	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0040273	HP:0006771	Duodenal adenocarcinoma	2	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome		504
HP:0040273	HP:0040276	Adenocarcinoma of the colon	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1

Genes (39) :AAGAB ADA2 APC BMPR1A COL14A1 GATA1 GPR35 GREM1 MLH1 MSH2 MST1 MUTYH NTHL1 POLD1 POLE RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SEMA4D SMAD4 TCF4 TSR2

Diseases (13) :ORPHA:79501 ORPHA:124 OMIM:175100 ORPHA:247806 ORPHA:157794 OMIM:174900 ORPHA:171 OMIM:276300 OMIM:158320 ORPHA:247798 OMIM:616415 ORPHA:454840 ORPHA:447877

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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