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:0001795	HP:0001795	Hyperconvex nail	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.	166
HP:0001795	HP:0001795	Hyperconvex nail	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0001795	HP:0001795	Hyperconvex nail	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0001795	HP:0001795	Hyperconvex nail	0	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	.	13
HP:0001795	HP:0001795	Hyperconvex nail	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001795	HP:0001795	Hyperconvex nail	0	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0001795	HP:0001795	Hyperconvex nail	0	HPGD CL E G H	3248	5154	ORPHA:217059	Isolated congenital digital clubbing		55
HP:0001795	HP:0001795	Hyperconvex nail	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0001795	HP:0001795	Hyperconvex nail	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome		22
HP:0001795	HP:0001795	Hyperconvex nail	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0001795	HP:0001795	Hyperconvex nail	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0001795	HP:0001795	Hyperconvex nail	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation	.	57
HP:0001795	HP:0001795	Hyperconvex nail	0	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:0001795	HP:0001795	Hyperconvex nail	0	POMP CL E G H	51371	20330	OMIM:601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma		2
HP:0001795	HP:0001795	Hyperconvex nail	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism		6
HP:0001795	HP:0001795	Hyperconvex nail	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0001795	HP:0001795	Hyperconvex nail	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome		65
HP:0001795	HP:0001795	Hyperconvex nail	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome		65
HP:0001795	HP:0001795	Hyperconvex nail	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0001795	HP:0001795	Hyperconvex nail	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0001795	HP:0001795	Hyperconvex nail	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0001795	HP:0001795	Hyperconvex nail	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.	140
HP:0001795	HP:0030055	Hyperconvex toenail	1	CL E G H
HP:0001795	HP:0008407	Hyperconvex thumb nails	1	CL E G H
HP:0001795	HP:0001812	Hyperconvex fingernails	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.	1
HP:0001795	HP:0001812	Hyperconvex fingernails	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0001795	HP:0001812	Hyperconvex fingernails	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0001795	HP:0001812	Hyperconvex fingernails	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0001795	HP:0001812	Hyperconvex fingernails	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent	22
HP:0001795	HP:0001812	Hyperconvex fingernails	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.	118
HP:0001795	HP:0001812	Hyperconvex fingernails	1	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy	HP:0040281 - Very frequent	759
HP:0001795	HP:0001812	Hyperconvex fingernails	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040283 - Occasional	6
HP:0001795	HP:0001812	Hyperconvex fingernails	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0001795	HP:0001812	Hyperconvex fingernails	1	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040282 - Frequent	65