Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the immune system (HP:0002715)help
Parent Node:
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Abnormal lung morphology (HP:0002088)help
Parent Node:
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Abnormality of the lymphatic system (HP:0100763)help
..Starting node
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Abnormal pulmonary lymphatics (HP:0006529)help
Term ID: 6529
Name: Abnormal pulmonary lymphatics
Synonym:
Definition: An abnormality of the pulmonary lymphatic chain.
Comments:
Reference: HP:0006529
Genes and Diseases:
 
       Child Nodes:
........expandPulmonary lymphangiectasia (HP:0006521) help

 Sister Nodes: 
..expandAbnormal lymphatic vessel morphology (HP:0100766) help
..expandAbnormality of the lymph nodes (HP:0002733) help
..expandAbnormality of the spleen (HP:0001743) help
..expandAbnormality of the thymus (HP:0000777) help
..expandAbnormality of the tonsils (HP:0100765) help
..expandLymphangioma (HP:0100764) 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:0006529HP:0006529Abnormal pulmonary lymphatics0ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndrome1
HP:0006529HP:0006529Abnormal pulmonary lymphatics0CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndrome147
HP:0006529HP:0006529Abnormal pulmonary lymphatics0FAT4 CL E G H7963323109OMIM:616006HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2114
HP:0006529HP:0006529Abnormal pulmonary lymphatics0FAT4 CL E G H7963323109ORPHA:2136Hennekam syndrome114
HP:0006529HP:0006529Abnormal pulmonary lymphatics0FOXF1 CL E G H22943809OMIM:265380Alveolar capillary dysplasia with misalignment of pulmonary veins61
HP:0006529HP:0006529Abnormal pulmonary lymphatics0SOX18 CL E G H5434511194OMIM:137940Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome7
HP:0006529HP:0006521Pulmonary lymphangiectasia1ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndromeHP:0040283 - Occasional1
HP:0006529HP:0006521Pulmonary lymphangiectasia1CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndromeHP:0040283 - Occasional147
HP:0006529HP:0006521Pulmonary lymphangiectasia1FAT4 CL E G H7963323109OMIM:616006HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2114
HP:0006529HP:0006521Pulmonary lymphangiectasia1FAT4 CL E G H7963323109ORPHA:2136Hennekam syndromeHP:0040283 - Occasional114
HP:0006529HP:0006521Pulmonary lymphangiectasia1FOXF1 CL E G H22943809OMIM:265380Alveolar capillary dysplasia with misalignment of pulmonary veins61
HP:0006529HP:0006521Pulmonary lymphangiectasia1SOX18 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.