Human Phenotype Ontology 
Grandparent Node:
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Neoplasm by histology (HP:0011792)help
Parent Node:
expand
Abnormality of the lymphatic system (HP:0100763)help
Parent Node:
expand
Hamartoma (HP:0010566)help
..Starting node
..expand
Lymphangioma (HP:0100764)help
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:
........expandMediastinal cystic lymphangioma (HP:0030785) help
........expandLymphangioma of the orbit (HP:0500091) help

 Sister Nodes: 
..expandCerebral hamartoma (HP:0009731) help
..expandChorangioma (HP:0100883) help
..expandCutaneous hamartoma (HP:0031111) help
..expandFibrous hamartoma (HP:0100882) help
..expandHamartoma of the eye (HP:0010568) help
..expandHamartomatous polyposis (HP:0004390) help
..expandNumerous nevi (HP:0001054) help
..expandOdontoma (HP:0011068) help
..expandRenal hamartoma (HP:0008696) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0100764HP:0100764Lymphangioma0ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA145219605011
HP:0100764HP:0100764Lymphangioma0ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA143219605011
HP:0100764HP:0100764Lymphangioma0AKT1 CL E G H207744Aortic valves stenosis of the childORPHA1380391164730
HP:0100764HP:0100764Lymphangioma0AKT1 CL E G H207744Aortic valves stenosis of the childORPHA1417391164730
HP:0100764HP:0100764Lymphangioma0AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM1380391164730
HP:0100764HP:0100764Lymphangioma0AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM1417391164730
HP:0100764HP:0100764Lymphangioma0CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA134929426612753
HP:0100764HP:0100764Lymphangioma0CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA141329426612753
HP:0100764HP:0100764Lymphangioma0FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA198923109612411
HP:0100764HP:0100764Lymphangioma0FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA151923109612411
HP:0100764HP:0100764Lymphangioma0PTEN CL E G H5728137608ORPHA122469588601728
HP:0100764HP:0100764Lymphangioma0PTEN CL E G H5728137608ORPHA124169588601728
HP:0100764HP:0100764Lymphangioma0PTEN CL E G H5728744Aortic valves stenosis of the childORPHA124169588601728
HP:0100764HP:0100764Lymphangioma0PTEN CL E G H5728744Aortic valves stenosis of the childORPHA122469588601728
HP:0100764HP:0030785Mediastinal cystic lymphangioma1ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA143219605011
HP:0100764HP:0500091Lymphangioma of the orbit1ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA145219605011
HP:0100764HP:0500091Lymphangioma of the orbit1ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA143219605011
HP:0100764HP:0030785Mediastinal cystic lymphangioma1ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA145219605011
HP:0100764HP:0500091Lymphangioma of the orbit1AKT1 CL E G H207744Aortic valves stenosis of the childORPHA1380391164730
HP:0100764HP:0030785Mediastinal cystic lymphangioma1AKT1 CL E G H207744Aortic valves stenosis of the childORPHA1417391164730
HP:0100764HP:0030785Mediastinal cystic lymphangioma1AKT1 CL E G H207744Aortic valves stenosis of the childORPHA1380391164730
HP:0100764HP:0500091Lymphangioma of the orbit1AKT1 CL E G H207744Aortic valves stenosis of the childORPHA1417391164730
HP:0100764HP:0500091Lymphangioma of the orbit1AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM1380391164730
HP:0100764HP:0030785Mediastinal cystic lymphangioma1AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM1417391164730
HP:0100764HP:0030785Mediastinal cystic lymphangioma1AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM1380391164730
HP:0100764HP:0500091Lymphangioma of the orbit1AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM1417391164730
HP:0100764HP:0500091Lymphangioma of the orbit1CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA134929426612753
HP:0100764HP:0030785Mediastinal cystic lymphangioma1CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA141329426612753
HP:0100764HP:0030785Mediastinal cystic lymphangioma1CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA134929426612753
HP:0100764HP:0500091Lymphangioma of the orbit1CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA141329426612753
HP:0100764HP:0030785Mediastinal cystic lymphangioma1FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA151923109612411
HP:0100764HP:0500091Lymphangioma of the orbit1FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA198923109612411
HP:0100764HP:0500091Lymphangioma of the orbit1FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA151923109612411
HP:0100764HP:0030785Mediastinal cystic lymphangioma1FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA198923109612411
HP:0100764HP:0500091Lymphangioma of the orbit1PTEN CL E G H5728137608ORPHA122469588601728
HP:0100764HP:0030785Mediastinal cystic lymphangioma1PTEN CL E G H5728137608ORPHA124169588601728
HP:0100764HP:0030785Mediastinal cystic lymphangioma1PTEN CL E G H5728137608ORPHA122469588601728
HP:0100764HP:0500091Lymphangioma of the orbit1PTEN CL E G H5728137608ORPHA124169588601728
HP:0100764HP:0030785Mediastinal cystic lymphangioma1PTEN CL E G H5728744Aortic valves stenosis of the childORPHA122469588601728
HP:0100764HP:0500091Lymphangioma of the orbit1PTEN CL E G H5728744Aortic valves stenosis of the childORPHA124169588601728
HP:0100764HP:0500091Lymphangioma of the orbit1PTEN CL E G H5728744Aortic valves stenosis of the childORPHA122469588601728
HP:0100764HP:0030785Mediastinal cystic lymphangioma1PTEN CL E G H5728744Aortic valves stenosis of the childORPHA124169588601728
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100764HP:0100764Lymphangioma0COL18A1 CL E G H807811571ORPHA07612195120328
HP:0100764HP:0100764Lymphangioma0COL18A1 CL E G H807811571ORPHA014972195120328
HP:0100764HP:0100764Lymphangioma0IDH1 CL E G H3417296ORPHA0695382147700
HP:0100764HP:0100764Lymphangioma0IDH1 CL E G H3417296ORPHA0685382147700
HP:0100764HP:0100764Lymphangioma0IDH2 CL E G H3418296ORPHA01405383147650
HP:0100764HP:0100764Lymphangioma0IDH2 CL E G H3418296ORPHA01625383147650
HP:0100764HP:0100764Lymphangioma0PTH1R CL E G H5745296ORPHA01669608168468
HP:0100764HP:0100764Lymphangioma0PTH1R CL E G H5745296ORPHA01359608168468
HP:0100764HP:0500091Lymphangioma of the orbit1COL18A1 CL E G H807811571ORPHA07612195120328
HP:0100764HP:0030785Mediastinal cystic lymphangioma1COL18A1 CL E G H807811571ORPHA014972195120328
HP:0100764HP:0030785Mediastinal cystic lymphangioma1COL18A1 CL E G H807811571ORPHA07612195120328
HP:0100764HP:0500091Lymphangioma of the orbit1COL18A1 CL E G H807811571ORPHA014972195120328
HP:0100764HP:0030785Mediastinal cystic lymphangioma1IDH1 CL E G H3417296ORPHA0685382147700
HP:0100764HP:0500091Lymphangioma of the orbit1IDH1 CL E G H3417296ORPHA0695382147700
HP:0100764HP:0500091Lymphangioma of the orbit1IDH1 CL E G H3417296ORPHA0685382147700
HP:0100764HP:0030785Mediastinal cystic lymphangioma1IDH1 CL E G H3417296ORPHA0695382147700
HP:0100764HP:0500091Lymphangioma of the orbit1IDH2 CL E G H3418296ORPHA01405383147650
HP:0100764HP:0030785Mediastinal cystic lymphangioma1IDH2 CL E G H3418296ORPHA01625383147650
HP:0100764HP:0030785Mediastinal cystic lymphangioma1IDH2 CL E G H3418296ORPHA01405383147650
HP:0100764HP:0500091Lymphangioma of the orbit1IDH2 CL E G H3418296ORPHA01625383147650
HP:0100764HP:0030785Mediastinal cystic lymphangioma1PTH1R CL E G H5745296ORPHA01359608168468
HP:0100764HP:0500091Lymphangioma of the orbit1PTH1R CL E G H5745296ORPHA01669608168468
HP:0100764HP:0500091Lymphangioma of the orbit1PTH1R CL E G H5745296ORPHA01359608168468
HP:0100764HP:0030785Mediastinal cystic lymphangioma1PTH1R CL E G H5745296ORPHA01669608168468


Genes (9) :ADAMTS3 AKT1 CCBE1 COL18A1 FAT4 IDH1 IDH2 PTEN PTH1R

Diseases (6) :2136 744 176920 1571 296 137608
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.