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
..Pancreatoblastoma (HP:0100757)

Term ID:

100757

Name:

Pancreatoblastoma

Synonym:

Definition:

A rare pediatric carcinoma of the pancreas.

Comments:

Reference:

HP:0100757

Genes and Diseases:

Child Nodes:

Sister Nodes:

Pancreatic adenocarcinoma (HP:0006725)

Pancreatic islet cell adenoma (HP:0008261)

Pancreatic squamous cell carcinoma (HP:0012142)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100757	HP:0100757	Pancreatoblastoma	0	BRD4 CL E G H	23476	13575	ORPHA:443167	NUT midline carcinoma	HP:0040282 - Frequent
HP:0100757	HP:0100757	Pancreatoblastoma	0	NUTM1 CL E G H	256646	29919	ORPHA:443167	NUT midline carcinoma	HP:0040282 - Frequent

Genes (2) :BRD4 NUTM1

Diseases (1) :ORPHA:443167

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