Human Phenotype Ontology 
Grandparent Node:
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Abnormal lung morphology (HP:0002088)help
Grandparent Node:
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Neoplasm of the respiratory system (HP:0100606)help
Parent Node:
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Lymphatic vessel neoplasm (HP:0012797)help
Parent Node:
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Neoplasm of the lung (HP:0100526)help
..Starting node
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Pulmonary lymphangiomyomatosis (HP:0012798)help
Term ID: 12798
Name: Pulmonary lymphangiomyomatosis
Synonym: Lymphangioleiomyomatosis; Pulmonary myomatosis
Definition: Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls.
Comments:
Reference: HP:0012798
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBronchial neoplasm (HP:0030077) help
..expandLung fibroma (HP:0010616) help
..expandNeoplasm of the tracheobronchial system (HP:0100552) help
..expandNon-small cell lung carcinoma (HP:0030358) help
..expandPulmonary chondroma (HP:0031474) help
..expandPulmonary lymphoma (HP:0011953) help
..expandPulmonary paraglioma (HP:0100636) help
..expandSmall cell lung carcinoma (HP:0030357) 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:0012798HP:0012798Pulmonary lymphangiomyomatosis0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent23
HP:0012798HP:0012798Pulmonary lymphangiomyomatosis0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0012798HP:0012798Pulmonary lymphangiomyomatosis0TSC1 CL E G H724812362ORPHA:538LymphangioleiomyomatosisHP:0040282 - Frequent1090
HP:0012798HP:0012798Pulmonary lymphangiomyomatosis0TSC1 CL E G H724812362OMIM:606690LYMPHANGIOLEIOMYOMATOSIS.1090
HP:0012798HP:0012798Pulmonary lymphangiomyomatosis0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent1090
HP:0012798HP:0012798Pulmonary lymphangiomyomatosis0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0012798HP:0012798Pulmonary lymphangiomyomatosis0TSC2 CL E G H724912363OMIM:606690LYMPHANGIOLEIOMYOMATOSIS.2738
HP:0012798HP:0012798Pulmonary lymphangiomyomatosis0TSC2 CL E G H724912363ORPHA:538LymphangioleiomyomatosisHP:0040282 - Frequent2738
HP:0012798HP:0012798Pulmonary lymphangiomyomatosis0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent2738
HP:0012798HP:0012798Pulmonary lymphangiomyomatosis0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738


Genes (3) :IFNG TSC1 TSC2

Diseases (5) :ORPHA:805 OMIM:613254 ORPHA:538 OMIM:606690 OMIM:191100
 

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