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:
Neoplasm of the large intestine (HP:0100834)

Parent Node:
Adenocarcinoma of the large intestine (HP:0040275)

Parent Node:
Neoplasm of the colon (HP:0100273)

..Starting node
..Adenocarcinoma of the colon (HP:0040276)

Term ID:

40276

Name:

Adenocarcinoma of the colon

Synonym:

Definition:

Comments:

Reference:

HP:0040276

Genes and Diseases:

Child Nodes:

Sister Nodes:

Adenomatous colonic polyposis (HP:0005227)

Colon cancer (HP:0003003)

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:0040276	HP:0040276	Adenocarcinoma of the colon	0	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040284 - Very rare	7
HP:0040276	HP:0040276	Adenocarcinoma of the colon	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0040276	HP:0040276	Adenocarcinoma of the colon	0	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040283 - Occasional	385
HP:0040276	HP:0040276	Adenocarcinoma of the colon	0	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040284 - Very rare	2
HP:0040276	HP:0040276	Adenocarcinoma of the colon	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	29
HP:0040276	HP:0040276	Adenocarcinoma of the colon	0	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040283 - Occasional	9
HP:0040276	HP:0040276	Adenocarcinoma of the colon	0	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0040276	HP:0040276	Adenocarcinoma of the colon	0	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	592
HP:0040276	HP:0040276	Adenocarcinoma of the colon	0	POLD1 CL E G H	5424	9175	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040283 - Occasional	731
HP:0040276	HP:0040276	Adenocarcinoma of the colon	0	POLE CL E G H	5426	9177	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040283 - Occasional	1129
HP:0040276	HP:0040276	Adenocarcinoma of the colon	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0040276	HP:0040276	Adenocarcinoma of the colon	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0040276	HP:0040276	Adenocarcinoma of the colon	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0040276	HP:0040276	Adenocarcinoma of the colon	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0040276	HP:0040276	Adenocarcinoma of the colon	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0040276	HP:0040276	Adenocarcinoma of the colon	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0040276	HP:0040276	Adenocarcinoma of the colon	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0040276	HP:0040276	Adenocarcinoma of the colon	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	11
HP:0040276	HP:0040276	Adenocarcinoma of the colon	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	40
HP:0040276	HP:0040276	Adenocarcinoma of the colon	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	26
HP:0040276	HP:0040276	Adenocarcinoma of the colon	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0040276	HP:0040276	Adenocarcinoma of the colon	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	5
HP:0040276	HP:0040276	Adenocarcinoma of the colon	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	42
HP:0040276	HP:0040276	Adenocarcinoma of the colon	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0040276	HP:0040276	Adenocarcinoma of the colon	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0040276	HP:0040276	Adenocarcinoma of the colon	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0040276	HP:0040276	Adenocarcinoma of the colon	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0040276	HP:0040276	Adenocarcinoma of the colon	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0040276	HP:0040276	Adenocarcinoma of the colon	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0040276	HP:0040276	Adenocarcinoma of the colon	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0040276	HP:0040276	Adenocarcinoma of the colon	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1

Genes (31) :AAGAB ADA2 BMPR1A COL14A1 GATA1 GREM1 MLH1 MUTYH POLD1 POLE RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 TSR2

Diseases (6) :ORPHA:79501 ORPHA:124 ORPHA:157794 OMIM:276300 ORPHA:247798 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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