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:0002722	HP:0002722	Recurrent abscess formation	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0002722	HP:0002722	Recurrent abscess formation	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia		109
HP:0002722	HP:0002722	Recurrent abscess formation	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0002722	HP:0002722	Recurrent abscess formation	0	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	8
HP:0002722	HP:0002722	Recurrent abscess formation	0	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	18
HP:0002722	HP:0002722	Recurrent abscess formation	0	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	24
HP:0002722	HP:0002722	Recurrent abscess formation	0	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain		3
HP:0002722	HP:0002722	Recurrent abscess formation	0	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome		50
HP:0002722	HP:0002722	Recurrent abscess formation	0	FCN3 CL E G H	8547	3625	OMIM:613860	FICOLIN 3 DEFICIENCY		1
HP:0002722	HP:0002722	Recurrent abscess formation	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0002722	HP:0002722	Recurrent abscess formation	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0002722	HP:0002722	Recurrent abscess formation	0	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0002722	HP:0002722	Recurrent abscess formation	0	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040283 - Occasional	11
HP:0002722	HP:0002722	Recurrent abscess formation	0	PSEN1 CL E G H	5663	9508	OMIM:613737	Acne inversa, familial, 3		241
HP:0002722	HP:0002722	Recurrent abscess formation	0	PSENEN CL E G H	55851	30100	OMIM:613736	Acne inversa, familial, 2, with or without dowling-degos disease		2
HP:0002722	HP:0002722	Recurrent abscess formation	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040283 - Occasional	49
HP:0002722	HP:0002722	Recurrent abscess formation	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0002722	HP:0002722	Recurrent abscess formation	0	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040283 - Occasional	26
HP:0002722	HP:0002722	Recurrent abscess formation	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0002722	HP:0100838	Recurrent cutaneous abscess formation	1	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040281 - Very frequent	109
HP:0002722	HP:0100838	Recurrent cutaneous abscess formation	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0002722	HP:0100838	Recurrent cutaneous abscess formation	1	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome	HP:0040282 - Frequent	50
HP:0002722	HP:0100838	Recurrent cutaneous abscess formation	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0002722	HP:0100838	Recurrent cutaneous abscess formation	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0002722	HP:0100838	Recurrent cutaneous abscess formation	1	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0002722	HP:0100838	Recurrent cutaneous abscess formation	1	PSEN1 CL E G H	5663	9508	OMIM:613737	Acne inversa, familial, 3		241
HP:0002722	HP:0100838	Recurrent cutaneous abscess formation	1	PSENEN CL E G H	55851	30100	OMIM:613736	Acne inversa, familial, 2, with or without dowling-degos disease	.	2
HP:0002722	HP:0100838	Recurrent cutaneous abscess formation	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional	7