Human Phenotype Ontology

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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:
Abnormality of the vasculature (HP:0002597)

Grandparent Node:
Neoplasm by anatomical site (HP:0011793)

Parent Node:
Abnormal lymphatic vessel morphology (HP:0100766)

Parent Node:
Vascular neoplasm (HP:0100742)

..Starting node
..Lymphatic vessel neoplasm (HP:0012797)

Term ID:

12797

Name:

Lymphatic vessel neoplasm

Synonym:

Lymphatic vessel tumor; Lymphatic vessel tumour

Definition:

A benign or malignant neoplasm arising from the lymphatic vessels.

Comments:

Reference:

HP:0012797

Genes and Diseases:

Child Nodes:

........

Pulmonary lymphangiomyomatosis (HP:0012798)

Sister Nodes:

Hemangioma (HP:0001028)

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:0012797	HP:0012797	Lymphatic vessel neoplasm	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0012797	HP:0012797	Lymphatic vessel neoplasm	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0012797	HP:0012797	Lymphatic vessel neoplasm	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis		1090
HP:0012797	HP:0012797	Lymphatic vessel neoplasm	0	TSC1 CL E G H	7248	12362	OMIM:606690	LYMPHANGIOLEIOMYOMATOSIS		1090
HP:0012797	HP:0012797	Lymphatic vessel neoplasm	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0012797	HP:0012797	Lymphatic vessel neoplasm	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0012797	HP:0012797	Lymphatic vessel neoplasm	0	TSC2 CL E G H	7249	12363	OMIM:606690	LYMPHANGIOLEIOMYOMATOSIS		2738
HP:0012797	HP:0012797	Lymphatic vessel neoplasm	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis		2738
HP:0012797	HP:0012797	Lymphatic vessel neoplasm	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0012797	HP:0012797	Lymphatic vessel neoplasm	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0012797	HP:0012798	Pulmonary lymphangiomyomatosis	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	23
HP:0012797	HP:0012798	Pulmonary lymphangiomyomatosis	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0012797	HP:0012798	Pulmonary lymphangiomyomatosis	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent	1090
HP:0012797	HP:0012798	Pulmonary lymphangiomyomatosis	1	TSC1 CL E G H	7248	12362	OMIM:606690	LYMPHANGIOLEIOMYOMATOSIS	.	1090
HP:0012797	HP:0012798	Pulmonary lymphangiomyomatosis	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	1090
HP:0012797	HP:0012798	Pulmonary lymphangiomyomatosis	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0012797	HP:0012798	Pulmonary lymphangiomyomatosis	1	TSC2 CL E G H	7249	12363	OMIM:606690	LYMPHANGIOLEIOMYOMATOSIS	.	2738
HP:0012797	HP:0012798	Pulmonary lymphangiomyomatosis	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent	2738
HP:0012797	HP:0012798	Pulmonary lymphangiomyomatosis	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	2738
HP:0012797	HP:0012798	Pulmonary lymphangiomyomatosis	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738

Genes (3) :IFNG TSC1 TSC2

Diseases (5) :ORPHA:805 OMIM:613254 ORPHA:538 OMIM:606690 OMIM:191100

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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