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:
Neoplasm by histology (HP:0011792)

Parent Node:
Abnormality of the lymphatic system (HP:0100763)

Parent Node:
Hamartoma (HP:0010566)

..Starting node
..Lymphangioma (HP:0100764)

Term ID:

100764

Name:

Lymphangioma

Synonym:

Definition:

Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor.

Comments:

Reference:

HP:0100764

Genes and Diseases:

Child Nodes:

........

Mediastinal cystic lymphangioma (HP:0030785)

........

Lymphangioma of the orbit (HP:0500091)

Sister Nodes:

Cerebral hamartoma (HP:0009731)

Chorangioma (HP:0100883)

Cutaneous hamartoma (HP:0031111)

Fibrous hamartoma (HP:0100882)

Hamartoma of the eye (HP:0010568)

Hamartomatous polyposis (HP:0004390)

Numerous nevi (HP:0001054)

Odontoma (HP:0011068)

Renal hamartoma (HP:0008696)

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:0100764	HP:0100764	Lymphangioma	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	1
HP:0100764	HP:0100764	Lymphangioma	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	54
HP:0100764	HP:0100764	Lymphangioma	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.	54
HP:0100764	HP:0100764	Lymphangioma	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	147
HP:0100764	HP:0100764	Lymphangioma	0	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional	177
HP:0100764	HP:0100764	Lymphangioma	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	114
HP:0100764	HP:0100764	Lymphangioma	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0100764	HP:0100764	Lymphangioma	0	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease	HP:0040283 - Occasional	15
HP:0100764	HP:0100764	Lymphangioma	0	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease	HP:0040283 - Occasional	29
HP:0100764	HP:0100764	Lymphangioma	0	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional
HP:0100764	HP:0100764	Lymphangioma	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	948
HP:0100764	HP:0100764	Lymphangioma	0	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	HP:0040281 - Very frequent	948
HP:0100764	HP:0100764	Lymphangioma	0	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease	HP:0040283 - Occasional	58
HP:0100764	HP:0030785	Mediastinal cystic lymphangioma	1	CL E G H
HP:0100764	HP:0500091	Lymphangioma of the orbit	1	CL E G H

Genes (10) :ADAMTS3 AKT1 CCBE1 COL18A1 FAT4 IDH1 IDH2 PAK2 PTEN PTH1R

Diseases (7) :ORPHA:2136 ORPHA:744 OMIM:176920 ORPHA:1571 ORPHA:99646 ORPHA:296 ORPHA:137608

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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