Human Phenotype Ontology

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:
Lymphoma (HP:0002665)

Parent Node:
Non-Hodgkin lymphoma (HP:0012539)

..Starting node
..Burkitt lymphoma (HP:0030080)

Term ID:

30080

Name:

Burkitt lymphoma

Synonym:

Definition:

A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass.

Comments:

Reference:

HP:0030080

Genes and Diseases:

Child Nodes:

Sister Nodes:

B-cell lymphoma (HP:0012191)

Primary central nervous system lymphoma (HP:0030069)

T-cell lymphoma (HP:0012190)

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:0030080	HP:0030080	Burkitt lymphoma	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0030080	HP:0030080	Burkitt lymphoma	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0030080	HP:0030080	Burkitt lymphoma	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0030080	HP:0030080	Burkitt lymphoma	0	MYC CL E G H	4609	7553	OMIM:113970	Burkitt lymphoma	.	11
HP:0030080	HP:0030080	Burkitt lymphoma	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0030080	HP:0030080	Burkitt lymphoma	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0030080	HP:0030080	Burkitt lymphoma	0	RHOH CL E G H	399	686	OMIM:618307	Epidermodysplasia verruciformis, susceptibility to, 4	.
HP:0030080	HP:0030080	Burkitt lymphoma	0	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0030080	HP:0030080	Burkitt lymphoma	0	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81

Genes (9) :CASP10 FAS FASLG MYC PRKCD RASGRP1 RHOH SH2D1A XIAP

Diseases (4) :ORPHA:3261 OMIM:113970 OMIM:618307 OMIM:308240

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