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:0000034	HP:0000034	Hydrocele testis	0	ADAMTS3 CL E G H	9508	219	OMIM:618154	Hennekam lymphangiectasia-lymphedema syndrome 3	.	1
HP:0000034	HP:0000034	Hydrocele testis	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.	54
HP:0000034	HP:0000034	Hydrocele testis	0	ANGPT2 CL E G H	285	485	OMIM:619369	LYMPHATIC MALFORMATION 10; LMPHM10
HP:0000034	HP:0000034	Hydrocele testis	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0000034	HP:0000034	Hydrocele testis	0	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL		5
HP:0000034	HP:0000034	Hydrocele testis	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0000034	HP:0000034	Hydrocele testis	0	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0000034	HP:0000034	Hydrocele testis	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000034	HP:0000034	Hydrocele testis	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0000034	HP:0000034	Hydrocele testis	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0000034	HP:0000034	Hydrocele testis	0	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1		90
HP:0000034	HP:0000034	Hydrocele testis	0	FLT4 CL E G H	2324	3767	ORPHA:79452	Milroy disease	HP:0040282 - Frequent	90
HP:0000034	HP:0000034	Hydrocele testis	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0000034	HP:0000034	Hydrocele testis	0	GJC2 CL E G H	57165	17494	ORPHA:79452	Milroy disease	HP:0040282 - Frequent	37
HP:0000034	HP:0000034	Hydrocele testis	0	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0000034	HP:0000034	Hydrocele testis	0	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2		4
HP:0000034	HP:0000034	Hydrocele testis	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional	37
HP:0000034	HP:0000034	Hydrocele testis	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0000034	HP:0000034	Hydrocele testis	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0000034	HP:0000034	Hydrocele testis	0	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B	.	4
HP:0000034	HP:0000034	Hydrocele testis	0	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III	.	36
HP:0000034	HP:0000034	Hydrocele testis	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0000034	HP:0000034	Hydrocele testis	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.	37
HP:0000034	HP:0000034	Hydrocele testis	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.	162
HP:0000034	HP:0000034	Hydrocele testis	0	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome	HP:0040283 - Occasional	162
HP:0000034	HP:0000034	Hydrocele testis	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.	948
HP:0000034	HP:0000034	Hydrocele testis	0	SETD1A CL E G H	9739	29010	OMIM:618832	EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD		6
HP:0000034	HP:0000034	Hydrocele testis	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0000034	HP:0000034	Hydrocele testis	0	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0000034	HP:0000034	Hydrocele testis	0	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome	.	7
HP:0000034	HP:0000034	Hydrocele testis	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.	7
HP:0000034	HP:0000034	Hydrocele testis	0	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	HP:0040282 - Frequent	7
HP:0000034	HP:0000034	Hydrocele testis	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0000034	HP:0000034	Hydrocele testis	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0000034	HP:0000034	Hydrocele testis	0	VEGFC CL E G H	7424	12682	OMIM:615907	Lymphedema, hereditary, ID	.	4
HP:0000034	HP:0000034	Hydrocele testis	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare	362
HP:0000034	HP:0000034	Hydrocele testis	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040284 - Very rare	362
HP:0000034	HP:0000034	Hydrocele testis	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000034	HP:4000038	Infantile hydrocele	1	CL E G H
HP:0000034	HP:4000037	Congenital hydrocele	1	CL E G H
HP:0000034	HP:4000036	Encysted hydrocele of the cord	1	CL E G H
HP:0000034	HP:0100673	Vaginal hydrocele	1	CL E G H