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:0001004	HP:0001004	Lymphedema	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0001004	HP:0001004	Lymphedema	0	ADAMTS3 CL E G H	9508	219	OMIM:618154	Hennekam lymphangiectasia-lymphedema syndrome 3	.	1
HP:0001004	HP:0001004	Lymphedema	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	1
HP:0001004	HP:0001004	Lymphedema	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent	54
HP:0001004	HP:0001004	Lymphedema	0	ANGPT2 CL E G H	285	485	OMIM:619369	LYMPHATIC MALFORMATION 10; LMPHM10
HP:0001004	HP:0001004	Lymphedema	0	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent	49
HP:0001004	HP:0001004	Lymphedema	0	BCL2 CL E G H	596	990	ORPHA:545	Follicular lymphoma	HP:0040283 - Occasional	1
HP:0001004	HP:0001004	Lymphedema	0	BCL6 CL E G H	604	1001	ORPHA:545	Follicular lymphoma	HP:0040283 - Occasional	1
HP:0001004	HP:0001004	Lymphedema	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	276
HP:0001004	HP:0001004	Lymphedema	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1	.	276
HP:0001004	HP:0001004	Lymphedema	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	317
HP:0001004	HP:0001004	Lymphedema	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	HP:0040283 - Occasional	317
HP:0001004	HP:0001004	Lymphedema	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0001004	HP:0001004	Lymphedema	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	147
HP:0001004	HP:0001004	Lymphedema	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0001004	HP:0001004	Lymphedema	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0001004	HP:0001004	Lymphedema	0	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia	.	3
HP:0001004	HP:0001004	Lymphedema	0	CELSR1 CL E G H	9620	1850	OMIM:619319	LYMPHATIC MALFORMATION 9; LMPHM9		13
HP:0001004	HP:0001004	Lymphedema	0	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	88
HP:0001004	HP:0001004	Lymphedema	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	27
HP:0001004	HP:0001004	Lymphedema	0	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome		145
HP:0001004	HP:0001004	Lymphedema	0	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040283 - Occasional	3
HP:0001004	HP:0001004	Lymphedema	0	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7	.	3
HP:0001004	HP:0001004	Lymphedema	0	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease	HP:0040281 - Very frequent	3
HP:0001004	HP:0001004	Lymphedema	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	114
HP:0001004	HP:0001004	Lymphedema	0	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2		114
HP:0001004	HP:0001004	Lymphedema	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	114
HP:0001004	HP:0001004	Lymphedema	0	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1		90
HP:0001004	HP:0001004	Lymphedema	0	FLT4 CL E G H	2324	3767	ORPHA:79452	Milroy disease	HP:0040281 - Very frequent	90
HP:0001004	HP:0001004	Lymphedema	0	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome		20
HP:0001004	HP:0001004	Lymphedema	0	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome	.	20
HP:0001004	HP:0001004	Lymphedema	0	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	109
HP:0001004	HP:0001004	Lymphedema	0	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040281 - Very frequent	137
HP:0001004	HP:0001004	Lymphedema	0	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia	.	137
HP:0001004	HP:0001004	Lymphedema	0	GJC2 CL E G H	57165	17494	OMIM:613480	Lymphedema, hereditary, IC	.	37
HP:0001004	HP:0001004	Lymphedema	0	GJC2 CL E G H	57165	17494	ORPHA:79452	Milroy disease	HP:0040281 - Very frequent	37
HP:0001004	HP:0001004	Lymphedema	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040283 - Occasional	291
HP:0001004	HP:0001004	Lymphedema	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.	291
HP:0001004	HP:0001004	Lymphedema	0	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7	HP:0040281 - Very frequent	54
HP:0001004	HP:0001004	Lymphedema	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:545	Follicular lymphoma	HP:0040283 - Occasional	2
HP:0001004	HP:0001004	Lymphedema	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0001004	HP:0001004	Lymphedema	0	IGH CL E G H	3492	5477	ORPHA:545	Follicular lymphoma	HP:0040283 - Occasional	7
HP:0001004	HP:0001004	Lymphedema	0	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52
HP:0001004	HP:0001004	Lymphedema	0	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent	18
HP:0001004	HP:0001004	Lymphedema	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.	46
HP:0001004	HP:0001004	Lymphedema	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040281 - Very frequent	46
HP:0001004	HP:0001004	Lymphedema	0	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome	.	167
HP:0001004	HP:0001004	Lymphedema	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	196
HP:0001004	HP:0001004	Lymphedema	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	196
HP:0001004	HP:0001004	Lymphedema	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.	196
HP:0001004	HP:0001004	Lymphedema	0	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia	HP:0040281 - Very frequent	70
HP:0001004	HP:0001004	Lymphedema	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040283 - Occasional	68
HP:0001004	HP:0001004	Lymphedema	0	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	125
HP:0001004	HP:0001004	Lymphedema	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	43
HP:0001004	HP:0001004	Lymphedema	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	134
HP:0001004	HP:0001004	Lymphedema	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1	.	134
HP:0001004	HP:0001004	Lymphedema	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	178
HP:0001004	HP:0001004	Lymphedema	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0001004	HP:0001004	Lymphedema	0	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0001004	HP:0001004	Lymphedema	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0001004	HP:0001004	Lymphedema	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0001004	HP:0001004	Lymphedema	0	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1	HP:0040283 - Occasional	47
HP:0001004	HP:0001004	Lymphedema	0	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2	HP:0040282 - Frequent	47
HP:0001004	HP:0001004	Lymphedema	0	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease	.	47
HP:0001004	HP:0001004	Lymphedema	0	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	39
HP:0001004	HP:0001004	Lymphedema	0	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0001004	HP:0001004	Lymphedema	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	102
HP:0001004	HP:0001004	Lymphedema	0	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III		36
HP:0001004	HP:0001004	Lymphedema	0	PIK3CA CL E G H	5290	8975	OMIM:613089	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth	.	162
HP:0001004	HP:0001004	Lymphedema	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040284 - Very rare	150
HP:0001004	HP:0001004	Lymphedema	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional	948
HP:0001004	HP:0001004	Lymphedema	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent	948
HP:0001004	HP:0001004	Lymphedema	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	291
HP:0001004	HP:0001004	Lymphedema	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1	.	291
HP:0001004	HP:0001004	Lymphedema	0	PTPN14 CL E G H	5784	9647	OMIM:613611	Choanal atresia and lymphedema	.	1
HP:0001004	HP:0001004	Lymphedema	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	212
HP:0001004	HP:0001004	Lymphedema	0	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040283 - Occasional	88
HP:0001004	HP:0001004	Lymphedema	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	3
HP:0001004	HP:0001004	Lymphedema	0	RELN CL E G H	5649	9957	OMIM:257320	Lissencephaly 2		334
HP:0001004	HP:0001004	Lymphedema	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	39
HP:0001004	HP:0001004	Lymphedema	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0001004	HP:0001004	Lymphedema	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	1
HP:0001004	HP:0001004	Lymphedema	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040283 - Occasional	53
HP:0001004	HP:0001004	Lymphedema	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0001004	HP:0001004	Lymphedema	0	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent	9
HP:0001004	HP:0001004	Lymphedema	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	315
HP:0001004	HP:0001004	Lymphedema	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	30
HP:0001004	HP:0001004	Lymphedema	0	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome		7
HP:0001004	HP:0001004	Lymphedema	0	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome		7
HP:0001004	HP:0001004	Lymphedema	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.	7
HP:0001004	HP:0001004	Lymphedema	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040283 - Occasional	287
HP:0001004	HP:0001004	Lymphedema	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0001004	HP:0001004	Lymphedema	0	TIE1 CL E G H	7075	11809	OMIM:619401	LYMPHATIC MALFORMATION 11; LMPHM11
HP:0001004	HP:0001004	Lymphedema	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional	1090
HP:0001004	HP:0001004	Lymphedema	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional	2738
HP:0001004	HP:0001004	Lymphedema	0	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	39
HP:0001004	HP:0001004	Lymphedema	0	VEGFC CL E G H	7424	12682	OMIM:615907	Lymphedema, hereditary, ID	.	4
HP:0001004	HP:0001004	Lymphedema	0	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome		5
HP:0001004	HP:0001004	Lymphedema	0	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	14
HP:0001004	HP:0004788	Intestinal lymphedema	1	CL E G H
HP:0001004	HP:0003550	Predominantly lower limb lymphedema	1	CELSR1 CL E G H	9620	1850	OMIM:619319	LYMPHATIC MALFORMATION 9; LMPHM9		13
HP:0001004	HP:0003550	Predominantly lower limb lymphedema	1	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	HP:0040283 - Occasional	145
HP:0001004	HP:0003550	Predominantly lower limb lymphedema	1	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease	HP:0040282 - Frequent	3
HP:0001004	HP:0003550	Predominantly lower limb lymphedema	1	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1		90
HP:0001004	HP:0003550	Predominantly lower limb lymphedema	1	FLT4 CL E G H	2324	3767	ORPHA:79452	Milroy disease	HP:0040282 - Frequent	90
HP:0001004	HP:0003550	Predominantly lower limb lymphedema	1	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome	HP:0040281 - Very frequent	20
HP:0001004	HP:0003550	Predominantly lower limb lymphedema	1	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome	.	20
HP:0001004	HP:0003550	Predominantly lower limb lymphedema	1	GJC2 CL E G H	57165	17494	ORPHA:79452	Milroy disease	HP:0040282 - Frequent	37
HP:0001004	HP:0003550	Predominantly lower limb lymphedema	1	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome	.	7
HP:0001004	HP:0003550	Predominantly lower limb lymphedema	1	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	HP:0040281 - Very frequent	7