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:0010741	HP:0010741	Pedal edema	0	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	208
HP:0010741	HP:0010741	Pedal edema	0	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia	HP:0040282 - Frequent	104
HP:0010741	HP:0010741	Pedal edema	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	1
HP:0010741	HP:0010741	Pedal edema	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0010741	HP:0010741	Pedal edema	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0010741	HP:0010741	Pedal edema	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0010741	HP:0010741	Pedal edema	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0010741	HP:0010741	Pedal edema	0	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	5
HP:0010741	HP:0010741	Pedal edema	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040283 - Occasional	284
HP:0010741	HP:0010741	Pedal edema	0	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis	HP:0040282 - Frequent	40
HP:0010741	HP:0010741	Pedal edema	0	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease	HP:0040282 - Frequent	3
HP:0010741	HP:0010741	Pedal edema	0	FLT4 CL E G H	2324	3767	ORPHA:79452	Milroy disease	HP:0040282 - Frequent	90
HP:0010741	HP:0010741	Pedal edema	0	FN1 CL E G H	2335	3778	ORPHA:84090	Fibronectin glomerulopathy	HP:0040281 - Very frequent	9
HP:0010741	HP:0010741	Pedal edema	0	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	87
HP:0010741	HP:0010741	Pedal edema	0	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	37
HP:0010741	HP:0010741	Pedal edema	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional
HP:0010741	HP:0010741	Pedal edema	0	GJC2 CL E G H	57165	17494	ORPHA:79452	Milroy disease	HP:0040282 - Frequent	37
HP:0010741	HP:0010741	Pedal edema	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040283 - Occasional	1
HP:0010741	HP:0010741	Pedal edema	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040282 - Frequent	276
HP:0010741	HP:0010741	Pedal edema	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	63
HP:0010741	HP:0010741	Pedal edema	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional	63
HP:0010741	HP:0010741	Pedal edema	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional	63
HP:0010741	HP:0010741	Pedal edema	0	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040283 - Occasional	281
HP:0010741	HP:0010741	Pedal edema	0	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome	.	69
HP:0010741	HP:0010741	Pedal edema	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional	9
HP:0010741	HP:0010741	Pedal edema	0	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	452
HP:0010741	HP:0010741	Pedal edema	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional
HP:0010741	HP:0010741	Pedal edema	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional
HP:0010741	HP:0010741	Pedal edema	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional
HP:0010741	HP:0010741	Pedal edema	0	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	90
HP:0010741	HP:0010741	Pedal edema	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0010741	HP:0010741	Pedal edema	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	544
HP:0010741	HP:0010741	Pedal edema	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	121
HP:0010741	HP:0010741	Pedal edema	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional	121
HP:0010741	HP:0010741	Pedal edema	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional	121
HP:0010741	HP:0010741	Pedal edema	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder		3
HP:0010741	HP:0010741	Pedal edema	0	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma	HP:0040283 - Occasional	134
HP:0010741	HP:0010741	Pedal edema	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0010741	HP:0010741	Pedal edema	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0010741	HP:0010741	Pedal edema	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional	77
HP:0010741	HP:0010741	Pedal edema	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	60
HP:0010741	HP:0010741	Pedal edema	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	37
HP:0010741	HP:0010741	Pedal edema	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional	37
HP:0010741	HP:0010741	Pedal edema	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional	37
HP:0010741	HP:0010741	Pedal edema	0	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	20
HP:0010741	HP:0010741	Pedal edema	0	TGM1 CL E G H	7051	11777	ORPHA:281127	Acral self-healing collodion baby		98
HP:0010741	HP:0010741	Pedal edema	0	TIE1 CL E G H	7075	11809	OMIM:619401	LYMPHATIC MALFORMATION 11; LMPHM11
HP:0010741	HP:0010741	Pedal edema	0	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	6
HP:0010741	HP:0010741	Pedal edema	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0010741	HP:0010741	Pedal edema	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0010741	HP:0010741	Pedal edema	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0010741	HP:0010741	Pedal edema	0	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome		1
HP:0010741	HP:0010741	Pedal edema	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040282 - Frequent	1
HP:0010741	HP:0033045	Bipedal edema	1	CL E G H
HP:0010741	HP:0012098	Edema of the dorsum of feet	1	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent	3
HP:0010741	HP:0012098	Edema of the dorsum of feet	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0010741	HP:0012098	Edema of the dorsum of feet	1	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0010741	HP:0012098	Edema of the dorsum of feet	1	TGM1 CL E G H	7051	11777	ORPHA:281127	Acral self-healing collodion baby	HP:0040281 - Very frequent	98
HP:0010741	HP:0012098	Edema of the dorsum of feet	1	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome		1