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:0100803	HP:0100803	Abnormality of the periungual region	0	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0100803	HP:0100803	Abnormality of the periungual region	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0100803	HP:0100803	Abnormality of the periungual region	0	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain		3
HP:0100803	HP:0100803	Abnormality of the periungual region	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0100803	HP:0100803	Abnormality of the periungual region	0	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		276
HP:0100803	HP:0100803	Abnormality of the periungual region	0	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita		27
HP:0100803	HP:0100803	Abnormality of the periungual region	0	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita		23
HP:0100803	HP:0100803	Abnormality of the periungual region	0	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita		41
HP:0100803	HP:0100803	Abnormality of the periungual region	0	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita		4
HP:0100803	HP:0100803	Abnormality of the periungual region	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		116
HP:0100803	HP:0100803	Abnormality of the periungual region	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		167
HP:0100803	HP:0100803	Abnormality of the periungual region	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		135
HP:0100803	HP:0100803	Abnormality of the periungual region	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040282 - Frequent	11
HP:0100803	HP:0100803	Abnormality of the periungual region	0	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		54
HP:0100803	HP:0100803	Abnormality of the periungual region	0	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		318
HP:0100803	HP:0100803	Abnormality of the periungual region	0	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica		55
HP:0100803	HP:0100803	Abnormality of the periungual region	0	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type		55
HP:0100803	HP:0100803	Abnormality of the periungual region	0	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome		110
HP:0100803	HP:0100803	Abnormality of the periungual region	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0100803	HP:0100803	Abnormality of the periungual region	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis		1090
HP:0100803	HP:0100803	Abnormality of the periungual region	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0100803	HP:0100803	Abnormality of the periungual region	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis		2738
HP:0100803	HP:0100803	Abnormality of the periungual region	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0100803	HP:0100803	Abnormality of the periungual region	0	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		199
HP:0100803	HP:0008399	Circumungual hyperkeratosis	1	CL E G H
HP:0100803	HP:0001818	Paronychia	1	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0100803	HP:0001818	Paronychia	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional	314
HP:0100803	HP:0001818	Paronychia	1	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain		3
HP:0100803	HP:0100804	Ungual fibroma	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	23
HP:0100803	HP:0001818	Paronychia	1	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	276
HP:0100803	HP:0001818	Paronychia	1	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional	27
HP:0100803	HP:0001818	Paronychia	1	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional	23
HP:0100803	HP:0001818	Paronychia	1	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional	41
HP:0100803	HP:0001818	Paronychia	1	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional	4
HP:0100803	HP:0001818	Paronychia	1	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040282 - Frequent	116
HP:0100803	HP:0001818	Paronychia	1	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040282 - Frequent	167
HP:0100803	HP:0001818	Paronychia	1	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040282 - Frequent	135
HP:0100803	HP:0001818	Paronychia	1	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	54
HP:0100803	HP:0001818	Paronychia	1	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	318
HP:0100803	HP:0001818	Paronychia	1	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica	HP:0040282 - Frequent	55
HP:0100803	HP:0001818	Paronychia	1	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type	.	55
HP:0100803	HP:0001818	Paronychia	1	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040282 - Frequent	110
HP:0100803	HP:0033425	Periungual erythema	1	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0100803	HP:0100804	Ungual fibroma	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent	1090
HP:0100803	HP:0100804	Ungual fibroma	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	1090
HP:0100803	HP:0100804	Ungual fibroma	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent	2738
HP:0100803	HP:0100804	Ungual fibroma	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	2738
HP:0100803	HP:0001818	Paronychia	1	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	199