Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100766	HP:0100766	Abnormal lymphatic vessel morphology	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome		1
HP:0100766	HP:0100766	Abnormal lymphatic vessel morphology	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome		147
HP:0100766	HP:0100766	Abnormal lymphatic vessel morphology	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome		147
HP:0100766	HP:0100766	Abnormal lymphatic vessel morphology	0	CELSR1 CL E G H	9620	1850	OMIM:619319	LYMPHATIC MALFORMATION 9; LMPHM9		13
HP:0100766	HP:0100766	Abnormal lymphatic vessel morphology	0	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2		114
HP:0100766	HP:0100766	Abnormal lymphatic vessel morphology	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome		114
HP:0100766	HP:0100766	Abnormal lymphatic vessel morphology	0	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1		90
HP:0100766	HP:0100766	Abnormal lymphatic vessel morphology	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0100766	HP:0100766	Abnormal lymphatic vessel morphology	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0100766	HP:0100766	Abnormal lymphatic vessel morphology	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0100766	HP:0100766	Abnormal lymphatic vessel morphology	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0100766	HP:0100766	Abnormal lymphatic vessel morphology	0	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib		51
HP:0100766	HP:0100766	Abnormal lymphatic vessel morphology	0	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III		36
HP:0100766	HP:0100766	Abnormal lymphatic vessel morphology	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040283 - Occasional	88
HP:0100766	HP:0100766	Abnormal lymphatic vessel morphology	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome		7
HP:0100766	HP:0100766	Abnormal lymphatic vessel morphology	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis		1090
HP:0100766	HP:0100766	Abnormal lymphatic vessel morphology	0	TSC1 CL E G H	7248	12362	OMIM:606690	LYMPHANGIOLEIOMYOMATOSIS		1090
HP:0100766	HP:0100766	Abnormal lymphatic vessel morphology	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0100766	HP:0100766	Abnormal lymphatic vessel morphology	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0100766	HP:0100766	Abnormal lymphatic vessel morphology	0	TSC2 CL E G H	7249	12363	OMIM:606690	LYMPHANGIOLEIOMYOMATOSIS		2738
HP:0100766	HP:0100766	Abnormal lymphatic vessel morphology	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis		2738
HP:0100766	HP:0100766	Abnormal lymphatic vessel morphology	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0100766	HP:0100766	Abnormal lymphatic vessel morphology	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0100766	HP:0045006	Aplasia of lymphatic vessels	1	CL E G H
HP:0100766	HP:0031278	Abnormal thoracic duct morphology	1	CL E G H
HP:0100766	HP:0031842	Lymphangiectasis	1	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome		1
HP:0100766	HP:0031842	Lymphangiectasis	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome		147
HP:0100766	HP:0031842	Lymphangiectasis	1	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome		147
HP:0100766	HP:0033986	Tortuous lymphatic vessels	1	CELSR1 CL E G H	9620	1850	OMIM:619319	LYMPHATIC MALFORMATION 9; LMPHM9		13
HP:0100766	HP:0031842	Lymphangiectasis	1	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2		114
HP:0100766	HP:0031842	Lymphangiectasis	1	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome		114
HP:0100766	HP:0003759	Hypoplasia of lymphatic vessels	1	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1		90
HP:0100766	HP:0031842	Lymphangiectasis	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0100766	HP:0031842	Lymphangiectasis	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0100766	HP:0012797	Lymphatic vessel neoplasm	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0100766	HP:0012797	Lymphatic vessel neoplasm	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0100766	HP:0031842	Lymphangiectasis	1	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib	.	51
HP:0100766	HP:0031842	Lymphangiectasis	1	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III		36
HP:0100766	HP:0031842	Lymphangiectasis	1	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome		7
HP:0100766	HP:0012797	Lymphatic vessel neoplasm	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis		1090
HP:0100766	HP:0012797	Lymphatic vessel neoplasm	1	TSC1 CL E G H	7248	12362	OMIM:606690	LYMPHANGIOLEIOMYOMATOSIS		1090
HP:0100766	HP:0012797	Lymphatic vessel neoplasm	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0100766	HP:0012797	Lymphatic vessel neoplasm	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0100766	HP:0012797	Lymphatic vessel neoplasm	1	TSC2 CL E G H	7249	12363	OMIM:606690	LYMPHANGIOLEIOMYOMATOSIS		2738
HP:0100766	HP:0012797	Lymphatic vessel neoplasm	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis		2738
HP:0100766	HP:0012797	Lymphatic vessel neoplasm	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0100766	HP:0012797	Lymphatic vessel neoplasm	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0100766	HP:0006273	Pancreatic lymphangiectasis	2	CL E G H
HP:0100766	HP:0006521	Pulmonary lymphangiectasia	2	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	1
HP:0100766	HP:0006531	Pleural lymphangiectasia	2	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0100766	HP:0005183	Pericardial lymphangiectasia	2	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0100766	HP:0002593	Intestinal lymphangiectasia	2	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0100766	HP:0008229	Thyroid lymphangiectasia	2	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0100766	HP:0006521	Pulmonary lymphangiectasia	2	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	147
HP:0100766	HP:0005183	Pericardial lymphangiectasia	2	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2		114
HP:0100766	HP:0006521	Pulmonary lymphangiectasia	2	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2		114
HP:0100766	HP:0002593	Intestinal lymphangiectasia	2	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2		114
HP:0100766	HP:0006521	Pulmonary lymphangiectasia	2	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	114
HP:0100766	HP:0006521	Pulmonary lymphangiectasia	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0100766	HP:0012798	Pulmonary lymphangiomyomatosis	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	23
HP:0100766	HP:0012798	Pulmonary lymphangiomyomatosis	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0100766	HP:0002593	Intestinal lymphangiectasia	2	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III		36
HP:0100766	HP:0006521	Pulmonary lymphangiectasia	2	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.	7
HP:0100766	HP:0012798	Pulmonary lymphangiomyomatosis	2	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent	1090
HP:0100766	HP:0012798	Pulmonary lymphangiomyomatosis	2	TSC1 CL E G H	7248	12362	OMIM:606690	LYMPHANGIOLEIOMYOMATOSIS	.	1090
HP:0100766	HP:0012798	Pulmonary lymphangiomyomatosis	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	1090
HP:0100766	HP:0012798	Pulmonary lymphangiomyomatosis	2	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0100766	HP:0012798	Pulmonary lymphangiomyomatosis	2	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent	2738
HP:0100766	HP:0012798	Pulmonary lymphangiomyomatosis	2	TSC2 CL E G H	7249	12363	OMIM:606690	LYMPHANGIOLEIOMYOMATOSIS	.	2738
HP:0100766	HP:0012798	Pulmonary lymphangiomyomatosis	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	2738
HP:0100766	HP:0012798	Pulmonary lymphangiomyomatosis	2	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738