Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal vascular morphology (HP:0025015)help
Grandparent Node:
expand
Abnormality of the lymphatic system (HP:0100763)help
Parent Node:
expand
Abnormal lymphatic vessel morphology (HP:0100766)help
..Starting node
..expand
Lymphangiectasis (HP:0031842)help
Term ID: 31842
Name: Lymphangiectasis
Synonym: Lymphangiectasia
Definition: Dilation of the lymphatic vessels, the basic process that may result in the formation of a lymphangioma.
Comments:
Reference: HP:0031842
Genes and Diseases:
 
       Child Nodes:
........expandIntestinal lymphangiectasia (HP:0002593) help
........expandPericardial lymphangiectasia (HP:0005183) help
........expandPancreatic lymphangiectasis (HP:0006273) help
........expandPulmonary lymphangiectasia (HP:0006521) help
........expandPleural lymphangiectasia (HP:0006531) help
........expandThyroid lymphangiectasia (HP:0008229) help

 Sister Nodes: 
..expandAbnormal thoracic duct morphology (HP:0031278) help
..expandAplasia of lymphatic vessels (HP:0045006) help
..expandHypoplasia of lymphatic vessels (HP:0003759) help
..expandLymphatic vessel neoplasm (HP:0012797) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031842HP:0031842Lymphangiectasis0ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndrome1
HP:0031842HP:0031842Lymphangiectasis0CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome147
HP:0031842HP:0031842Lymphangiectasis0CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndrome147
HP:0031842HP:0031842Lymphangiectasis0FAT4 CL E G H7963323109OMIM:616006HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2114
HP:0031842HP:0031842Lymphangiectasis0FAT4 CL E G H7963323109ORPHA:2136Hennekam syndrome114
HP:0031842HP:0031842Lymphangiectasis0FOXF1 CL E G H22943809OMIM:265380Alveolar capillary dysplasia with misalignment of pulmonary veins61
HP:0031842HP:0031842Lymphangiectasis0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0031842HP:0031842Lymphangiectasis0MPI CL E G H43517216OMIM:602579Congenital disorder of glycosylation, type Ib.51
HP:0031842HP:0031842Lymphangiectasis0PIEZO1 CL E G H978028993OMIM:616843Lymphedema, hereditary, III36
HP:0031842HP:0031842Lymphangiectasis0SOX18 CL E G H5434511194OMIM:137940Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome7
HP:0031842HP:0006273Pancreatic lymphangiectasis1 CL E G H
HP:0031842HP:0006521Pulmonary lymphangiectasia1ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndromeHP:0040283 - Occasional1
HP:0031842HP:0008229Thyroid lymphangiectasia1CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome.147
HP:0031842HP:0006531Pleural lymphangiectasia1CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome.147
HP:0031842HP:0005183Pericardial lymphangiectasia1CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome.147
HP:0031842HP:0002593Intestinal lymphangiectasia1CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome.147
HP:0031842HP:0006521Pulmonary lymphangiectasia1CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndromeHP:0040283 - Occasional147
HP:0031842HP:0006521Pulmonary lymphangiectasia1FAT4 CL E G H7963323109OMIM:616006HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2114
HP:0031842HP:0005183Pericardial lymphangiectasia1FAT4 CL E G H7963323109OMIM:616006HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2114
HP:0031842HP:0002593Intestinal lymphangiectasia1FAT4 CL E G H7963323109OMIM:616006HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2114
HP:0031842HP:0006521Pulmonary lymphangiectasia1FAT4 CL E G H7963323109ORPHA:2136Hennekam syndromeHP:0040283 - Occasional114
HP:0031842HP:0006521Pulmonary lymphangiectasia1FOXF1 CL E G H22943809OMIM:265380Alveolar capillary dysplasia with misalignment of pulmonary veins61
HP:0031842HP:0002593Intestinal lymphangiectasia1PIEZO1 CL E G H978028993OMIM:616843Lymphedema, hereditary, III36
HP:0031842HP:0006521Pulmonary lymphangiectasia1SOX18 CL E G H5434511194OMIM:137940Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome.7


Genes (8) :ADAMTS3 CCBE1 FAT4 FOXF1 HRAS MPI PIEZO1 SOX18

Diseases (8) :ORPHA:2136 OMIM:235510 OMIM:616006 OMIM:265380 OMIM:218040 OMIM:602579 OMIM:616843 OMIM:137940
 

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