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:
Lymphoma (HP:0002665)

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

..Starting node
..B-cell lymphoma (HP:0012191)

Term ID:

12191

Name:

B-cell lymphoma

Synonym:

B cell lymphoma

Definition:

A type of lymphoma that originates in B-cells.

Comments:

Reference:

HP:0012191

Genes and Diseases:

Child Nodes:

Sister Nodes:

Burkitt lymphoma (HP:0030080)

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:0012191	HP:0012191	B-cell lymphoma	0	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	.	75
HP:0012191	HP:0012191	B-cell lymphoma	0	ATM CL E G H	472	795	ORPHA:52416	Mantle cell lymphoma	HP:0040281 - Very frequent	3267
HP:0012191	HP:0012191	B-cell lymphoma	0	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent	18
HP:0012191	HP:0012191	B-cell lymphoma	0	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent
HP:0012191	HP:0012191	B-cell lymphoma	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0012191	HP:0012191	B-cell lymphoma	0	CCND1 CL E G H	595	1582	ORPHA:52416	Mantle cell lymphoma	HP:0040281 - Very frequent	1
HP:0012191	HP:0012191	B-cell lymphoma	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0012191	HP:0012191	B-cell lymphoma	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0012191	HP:0012191	B-cell lymphoma	0	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0012191	HP:0012191	B-cell lymphoma	0	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent	184
HP:0012191	HP:0012191	B-cell lymphoma	0	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent	7
HP:0012191	HP:0012191	B-cell lymphoma	0	IGH CL E G H	3492	5477	ORPHA:52416	Mantle cell lymphoma	HP:0040281 - Very frequent	7
HP:0012191	HP:0012191	B-cell lymphoma	0	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0012191	HP:0012191	B-cell lymphoma	0	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0012191	HP:0012191	B-cell lymphoma	0	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0012191	HP:0012191	B-cell lymphoma	0	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent	6
HP:0012191	HP:0012191	B-cell lymphoma	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040283 - Occasional	706
HP:0012191	HP:0012191	B-cell lymphoma	0	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36	HP:0040284 - Very rare	43
HP:0012191	HP:0012191	B-cell lymphoma	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0012191	HP:0012191	B-cell lymphoma	0	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0012191	HP:0012191	B-cell lymphoma	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0012191	HP:0012191	B-cell lymphoma	0	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0012191	HP:0012191	B-cell lymphoma	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0012191	HP:0033125	Follicular lymphoma	1	CL E G H

Genes (21) :ADA ATM BCL10 BIRC3 CASP10 CCND1 FAS FASLG FCHO1 FOXP1 IGH IKZF3 ITK MAGT1 MALT1 NBN PIK3R1 PRKCD PTPRC RASGRP1 SYK

Diseases (13) :OMIM:102700 ORPHA:52416 ORPHA:52417 ORPHA:3261 OMIM:619164 OMIM:619437 OMIM:613011 OMIM:300853 ORPHA:647 OMIM:616005 OMIM:619924 OMIM:618534 OMIM:619381

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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