Human Phenotype Ontology 
Grandparent Node:
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Abnormal lymphatic vessel morphology (HP:0100766)help
Parent Node:
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Abnormal pulmonary lymphatics (HP:0006529)help
Parent Node:
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Lymphangiectasis (HP:0031842)help
..Starting node
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Pulmonary lymphangiectasia (HP:0006521)help
Term ID: 6521
Name: Pulmonary lymphangiectasia
Synonym: Pulmonary lymphangiectasis
Definition: Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid.
Comments:
Reference: HP:0006521
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandIntestinal lymphangiectasia (HP:0002593) help
..expandPancreatic lymphangiectasis (HP:0006273) help
..expandPericardial lymphangiectasia (HP:0005183) help
..expandPleural lymphangiectasia (HP:0006531) help
..expandThyroid lymphangiectasia (HP:0008229) 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:0006521HP:0006521Pulmonary lymphangiectasia0ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndromeHP:0040283 - Occasional1
HP:0006521HP:0006521Pulmonary lymphangiectasia0CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndromeHP:0040283 - Occasional147
HP:0006521HP:0006521Pulmonary lymphangiectasia0FAT4 CL E G H7963323109OMIM:616006HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2114
HP:0006521HP:0006521Pulmonary lymphangiectasia0FAT4 CL E G H7963323109ORPHA:2136Hennekam syndromeHP:0040283 - Occasional114
HP:0006521HP:0006521Pulmonary lymphangiectasia0FOXF1 CL E G H22943809OMIM:265380Alveolar capillary dysplasia with misalignment of pulmonary veins61
HP:0006521HP:0006521Pulmonary lymphangiectasia0SOX18 CL E G H5434511194OMIM:137940Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome.7


Genes (5) :ADAMTS3 CCBE1 FAT4 FOXF1 SOX18

Diseases (4) :ORPHA:2136 OMIM:616006 OMIM:265380 OMIM:137940
 

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