Human Phenotype Ontology

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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:
Abnormality of the pancreas (HP:0001732)

Grandparent Node:
Neoplasm by anatomical site (HP:0011793)

Parent Node:
Neoplasm of the pancreas (HP:0002894)

..Starting node
..Pancreatic adenocarcinoma (HP:0006725)

Term ID:

6725

Name:

Pancreatic adenocarcinoma

Synonym:

Definition:

The presence of an adenocarcinoma of the pancreas.

Comments:

Reference:

HP:0006725

Genes and Diseases:

Child Nodes:

Sister Nodes:

Pancreatic islet cell adenoma (HP:0008261)

Pancreatic squamous cell carcinoma (HP:0012142)

Pancreatoblastoma (HP:0100757)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0006725	HP:0006725	Pancreatic adenocarcinoma	0	BRCA1 CL E G H	672	1333	Chromosome 19, ring		CN036553	ORPHA	1	2824	1100	113705
HP:0006725	HP:0006725	Pancreatic adenocarcinoma	0	BRCA2 CL E G H	675	1333	Chromosome 19, ring		CN036553	ORPHA	1	3025	1101	600185
HP:0006725	HP:0006725	Pancreatic adenocarcinoma	0	CDC73 CL E G H	79577	145001	Hyperparathyroidism 2	145001	C1704981	OMIM	1	104	16783	607393
HP:0006725	HP:0006725	Pancreatic adenocarcinoma	0	CDKN2A CL E G H	1029	1333	Chromosome 19, ring		CN036553	ORPHA	1	243	1787	600160
HP:0006725	HP:0006725	Pancreatic adenocarcinoma	0	CDKN2A CL E G H	1029	606719	Melanoma-pancreatic cancer syndrome	606719	C1838547	OMIM	1	243	1787	600160
HP:0006725	HP:0006725	Pancreatic adenocarcinoma	0	KRAS CL E G H	3845	1333	Chromosome 19, ring		CN036553	ORPHA	1	45	6407	190070
HP:0006725	HP:0006725	Pancreatic adenocarcinoma	0	PALB2 CL E G H	79728	1333	Chromosome 19, ring		CN036553	ORPHA	1	417	26144	610355
HP:0006725	HP:0006725	Pancreatic adenocarcinoma	0	PALLD CL E G H	23022	1333	Chromosome 19, ring		CN036553	ORPHA	1	4	17068	608092
HP:0006725	HP:0006725	Pancreatic adenocarcinoma	0	SMAD4 CL E G H	4089	1333	Chromosome 19, ring		CN036553	ORPHA	1	147	6770	600993
HP:0006725	HP:0006725	Pancreatic adenocarcinoma	0	TP53 CL E G H	7157	1333	Chromosome 19, ring		CN036553	ORPHA	1	541	11998	191170
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006725	HP:0006725	Pancreatic adenocarcinoma	0	CDC73 CL E G H	79577	143				ORPHA	0	104	16783	607393
HP:0006725	HP:0006725	Pancreatic adenocarcinoma	0	CDC73 CL E G H	79577	99880				ORPHA	0	104	16783	607393
HP:0006725	HP:0006725	Pancreatic adenocarcinoma	0	EPCAM CL E G H	4072	144				ORPHA	0	81	11529	185535
HP:0006725	HP:0006725	Pancreatic adenocarcinoma	0	FAN1 CL E G H	22909	144				ORPHA	0	21	29170	613534
HP:0006725	HP:0006725	Pancreatic adenocarcinoma	0	KRAS CL E G H	3845	144				ORPHA	0	45	6407	190070
HP:0006725	HP:0006725	Pancreatic adenocarcinoma	0	MLH1 CL E G H	4292	144				ORPHA	0	1203	7127	120436
HP:0006725	HP:0006725	Pancreatic adenocarcinoma	0	MLH3 CL E G H	27030	144				ORPHA	0	32	7128	604395
HP:0006725	HP:0006725	Pancreatic adenocarcinoma	0	MSH2 CL E G H	4436	144				ORPHA	0	1264	7325	609309
HP:0006725	HP:0006725	Pancreatic adenocarcinoma	0	MSH6 CL E G H	2956	144				ORPHA	0	602	7329	600678
HP:0006725	HP:0006725	Pancreatic adenocarcinoma	0	NTHL1 CL E G H	4913	454840				ORPHA	0	4	8028	602656
HP:0006725	HP:0006725	Pancreatic adenocarcinoma	0	PIK3CA CL E G H	5290	144				ORPHA	0	57	8975	171834
HP:0006725	HP:0006725	Pancreatic adenocarcinoma	0	PMS1 CL E G H	5378	144				ORPHA	0	36	9121	600258
HP:0006725	HP:0006725	Pancreatic adenocarcinoma	0	PMS2 CL E G H	5395	144				ORPHA	0	363	9122	600259
HP:0006725	HP:0006725	Pancreatic adenocarcinoma	0	RNF43 CL E G H	54894	157798				ORPHA	0	12	18505	612482
HP:0006725	HP:0006725	Pancreatic adenocarcinoma	0	STK11 CL E G H	6794	2869	Hypertrophic osteoarthropathy, primary or idiopathic			ORPHA	0	466	11389	602216
HP:0006725	HP:0006725	Pancreatic adenocarcinoma	0	TGFBR2 CL E G H	7048	144				ORPHA	0	148	11773	190182

Genes (22) :BRCA1 BRCA2 CDC73 CDKN2A EPCAM FAN1 KRAS MLH1 MLH3 MSH2 MSH6 NTHL1 PALB2 PALLD PIK3CA PMS1 PMS2 RNF43 SMAD4 STK11 TGFBR2 TP53

Diseases (9) :1333 143 99880 145001 606719 144 454840 157798 2869

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.

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