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:
Non-Hodgkin lymphoma (HP:0012539)

Parent Node:
T-cell lymphoma (HP:0012190)

..Starting node
..Cutaneous T-cell lymphoma (HP:0012192)

Term ID:

12192

Name:

Cutaneous T-cell lymphoma

Synonym:

Definition:

A type of T-cell lymphoma that exhibits malignant infiltration of the skin.

Comments:

Reference:

HP:0012192

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anaplastic large-cell lymphoma (HP:0012193)

T-cell lymphoma/leukemia (HP:0005517)

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:0012192	HP:0012192	Cutaneous T-cell lymphoma	0	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides	HP:0040282 - Frequent
HP:0012192	HP:0012192	Cutaneous T-cell lymphoma	0	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome	HP:0040281 - Very frequent
HP:0012192	HP:0012192	Cutaneous T-cell lymphoma	0	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides	HP:0040282 - Frequent	10
HP:0012192	HP:0012192	Cutaneous T-cell lymphoma	0	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome	HP:0040281 - Very frequent	10
HP:0012192	HP:0012192	Cutaneous T-cell lymphoma	0	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides	HP:0040282 - Frequent
HP:0012192	HP:0012192	Cutaneous T-cell lymphoma	0	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome	HP:0040281 - Very frequent

Genes (3) :CD28 CTLA4 TNFRSF1B

Diseases (2) :ORPHA:2584 ORPHA:3162

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