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
..T-cell lymphoma (HP:0012190)

Term ID:

12190

Name:

T-cell lymphoma

Synonym:

T cell lymphoma

Definition:

A type of lymphoma that originates in T-cells.

Comments:

Reference:

HP:0012190

Genes and Diseases:

Child Nodes:

........

T-cell lymphoma/leukemia (HP:0005517)

........

Cutaneous T-cell lymphoma (HP:0012192)

........

Anaplastic large-cell lymphoma (HP:0012193)

Sister Nodes:

B-cell lymphoma (HP:0012191)

Burkitt lymphoma (HP:0030080)

Primary central nervous system lymphoma (HP:0030069)

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:0012190	HP:0012190	T-cell lymphoma	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0012190	HP:0012190	T-cell lymphoma	0	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides
HP:0012190	HP:0012190	T-cell lymphoma	0	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome
HP:0012190	HP:0012190	T-cell lymphoma	0	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides		10
HP:0012190	HP:0012190	T-cell lymphoma	0	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome		10
HP:0012190	HP:0012190	T-cell lymphoma	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0012190	HP:0012190	T-cell lymphoma	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0012190	HP:0012190	T-cell lymphoma	0	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0012190	HP:0012190	T-cell lymphoma	0	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0012190	HP:0012190	T-cell lymphoma	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040283 - Occasional	706
HP:0012190	HP:0012190	T-cell lymphoma	0	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	HP:0040284 - Very rare	1129
HP:0012190	HP:0012190	T-cell lymphoma	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0012190	HP:0012190	T-cell lymphoma	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0012190	HP:0012190	T-cell lymphoma	0	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides
HP:0012190	HP:0012190	T-cell lymphoma	0	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome
HP:0012190	HP:0012190	T-cell lymphoma	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0012190	HP:0034403	Subcutaneous panniculitis-like T-cell lymphoma	1	CL E G H
HP:0012190	HP:0012193	Anaplastic large-cell lymphoma	1	CL E G H
HP:0012190	HP:0005517	T-cell lymphoma/leukemia	1	CL E G H
HP:0012190	HP:0012192	Cutaneous T-cell lymphoma	1	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides	HP:0040282 - Frequent
HP:0012190	HP:0012192	Cutaneous T-cell lymphoma	1	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome	HP:0040281 - Very frequent
HP:0012190	HP:0012192	Cutaneous T-cell lymphoma	1	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides	HP:0040282 - Frequent	10
HP:0012190	HP:0012192	Cutaneous T-cell lymphoma	1	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome	HP:0040281 - Very frequent	10
HP:0012190	HP:0012192	Cutaneous T-cell lymphoma	1	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides	HP:0040282 - Frequent
HP:0012190	HP:0012192	Cutaneous T-cell lymphoma	1	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome	HP:0040281 - Very frequent

Genes (13) :CASP10 CD28 CTLA4 FAS FASLG MLH1 MSH6 NBN POLE PRKCD RASGRP1 TNFRSF1B TTC7A

Diseases (8) :ORPHA:3261 ORPHA:2584 ORPHA:3162 OMIM:276300 OMIM:619097 ORPHA:647 OMIM:618336 OMIM:243150

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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