Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001816	HP:0001816	Thin nail	0	EED CL E G H	8726	3447				ORPHA	1	86	3188	605984
HP:0001816	HP:0001816	Thin nail	0	EED CL E G H	8726	3447				ORPHA	1	80	3188	605984
HP:0001816	HP:0001816	Thin nail	0	EED CL E G H	8726	617561	Cohen-Gibson syndrome	617561	C4479654	OMIM	1	86	3188	605984
HP:0001816	HP:0001816	Thin nail	0	EED CL E G H	8726	617561	Cohen-Gibson syndrome	617561	C4479654	OMIM	1	80	3188	605984
HP:0001816	HP:0001816	Thin nail	0	EZH2 CL E G H	2146	3447				ORPHA	1	364	3527	601573
HP:0001816	HP:0001816	Thin nail	0	EZH2 CL E G H	2146	3447				ORPHA	1	329	3527	601573
HP:0001816	HP:0001816	Thin nail	0	EZH2 CL E G H	2146	277590	Weaver syndrome	277590	C0265210	OMIM	1	364	3527	601573
HP:0001816	HP:0001816	Thin nail	0	EZH2 CL E G H	2146	277590	Weaver syndrome	277590	C0265210	OMIM	1	329	3527	601573
HP:0001816	HP:0001816	Thin nail	0	HRAS CL E G H	3265	218040	Costello syndrome	218040	C0587248	OMIM	1	467	5173	190020
HP:0001816	HP:0001816	Thin nail	0	HRAS CL E G H	3265	218040	Costello syndrome	218040	C0587248	OMIM	1	411	5173	190020
HP:0001816	HP:0001816	Thin nail	0	IFT122 CL E G H	55764	218330	Cranioectodermal dysplasia 1	218330	C0432235	OMIM	1	391	13556	606045
HP:0001816	HP:0001816	Thin nail	0	IFT122 CL E G H	55764	218330	Cranioectodermal dysplasia 1	218330	C0432235	OMIM	1	317	13556	606045
HP:0001816	HP:0001816	Thin nail	0	LMNA CL E G H	4000	740	Aortic arch interruption			ORPHA	1	1486	6636	150330
HP:0001816	HP:0001816	Thin nail	0	LMNA CL E G H	4000	740	Aortic arch interruption			ORPHA	1	1347	6636	150330
HP:0001816	HP:0001816	Thin nail	0	NSD1 CL E G H	64324	3447				ORPHA	1	1240	14234	606681
HP:0001816	HP:0001816	Thin nail	0	NSD1 CL E G H	64324	3447				ORPHA	1	1154	14234	606681
HP:0001816	HP:0001816	Thin nail	0	SUZ12 CL E G H	23512	3447				ORPHA	1	93	17101	606245
HP:0001816	HP:0001816	Thin nail	0	SUZ12 CL E G H	23512	3447				ORPHA	1	88	17101	606245
HP:0001816	HP:0001816	Thin nail	0	TRPS1 CL E G H	7227	190350	Trichorhinophalangeal dysplasia type I	190350	C0432233	OMIM	1	336	12340	604386
HP:0001816	HP:0001816	Thin nail	0	TRPS1 CL E G H	7227	190350	Trichorhinophalangeal dysplasia type I	190350	C0432233	OMIM	1	270	12340	604386
HP:0001816	HP:0001816	Thin nail	0	WNT10A CL E G H	80326	224750	Schopf-Schulz-Passarge syndrome	224750	C1857069	OMIM	1	309	13829	606268
HP:0001816	HP:0001816	Thin nail	0	WNT10A CL E G H	80326	224750	Schopf-Schulz-Passarge syndrome	224750	C1857069	OMIM	1	291	13829	606268
HP:0001816	HP:0001816	Thin nail	0	ZMPSTE24 CL E G H	10269	740	Aortic arch interruption			ORPHA	1	167	12877	606480
HP:0001816	HP:0001816	Thin nail	0	ZMPSTE24 CL E G H	10269	740	Aortic arch interruption			ORPHA	1	149	12877	606480
HP:0001816	HP:0012742	Thin fingernail	1	EED CL E G H	8726	3447				ORPHA	1	86	3188	605984
HP:0001816	HP:0012742	Thin fingernail	1	EED CL E G H	8726	3447				ORPHA	1	80	3188	605984
HP:0001816	HP:0012746	Thin toenail	1	EED CL E G H	8726	3447				ORPHA	1	86	3188	605984
HP:0001816	HP:0012746	Thin toenail	1	EED CL E G H	8726	3447				ORPHA	1	80	3188	605984
HP:0001816	HP:0012746	Thin toenail	1	EED CL E G H	8726	617561	Cohen-Gibson syndrome	617561	C4479654	OMIM	1	86	3188	605984
HP:0001816	HP:0012746	Thin toenail	1	EED CL E G H	8726	617561	Cohen-Gibson syndrome	617561	C4479654	OMIM	1	80	3188	605984
HP:0001816	HP:0012742	Thin fingernail	1	EED CL E G H	8726	617561	Cohen-Gibson syndrome	617561	C4479654	OMIM	1	86	3188	605984
HP:0001816	HP:0012742	Thin fingernail	1	EED CL E G H	8726	617561	Cohen-Gibson syndrome	617561	C4479654	OMIM	1	80	3188	605984
HP:0001816	HP:0012746	Thin toenail	1	EZH2 CL E G H	2146	3447				ORPHA	1	364	3527	601573
HP:0001816	HP:0012746	Thin toenail	1	EZH2 CL E G H	2146	3447				ORPHA	1	329	3527	601573
HP:0001816	HP:0012742	Thin fingernail	1	EZH2 CL E G H	2146	3447				ORPHA	1	364	3527	601573
HP:0001816	HP:0012742	Thin fingernail	1	EZH2 CL E G H	2146	3447				ORPHA	1	329	3527	601573
HP:0001816	HP:0012742	Thin fingernail	1	EZH2 CL E G H	2146	277590	Weaver syndrome	277590	C0265210	OMIM	1	364	3527	601573
HP:0001816	HP:0012742	Thin fingernail	1	EZH2 CL E G H	2146	277590	Weaver syndrome	277590	C0265210	OMIM	1	329	3527	601573
HP:0001816	HP:0012746	Thin toenail	1	EZH2 CL E G H	2146	277590	Weaver syndrome	277590	C0265210	OMIM	1	364	3527	601573
HP:0001816	HP:0012746	Thin toenail	1	EZH2 CL E G H	2146	277590	Weaver syndrome	277590	C0265210	OMIM	1	329	3527	601573
HP:0001816	HP:0012746	Thin toenail	1	HRAS CL E G H	3265	218040	Costello syndrome	218040	C0587248	OMIM	1	467	5173	190020
HP:0001816	HP:0012746	Thin toenail	1	HRAS CL E G H	3265	218040	Costello syndrome	218040	C0587248	OMIM	1	411	5173	190020
HP:0001816	HP:0012742	Thin fingernail	1	HRAS CL E G H	3265	218040	Costello syndrome	218040	C0587248	OMIM	1	467	5173	190020
HP:0001816	HP:0012742	Thin fingernail	1	HRAS CL E G H	3265	218040	Costello syndrome	218040	C0587248	OMIM	1	411	5173	190020
HP:0001816	HP:0012742	Thin fingernail	1	IFT122 CL E G H	55764	218330	Cranioectodermal dysplasia 1	218330	C0432235	OMIM	1	391	13556	606045
HP:0001816	HP:0012742	Thin fingernail	1	IFT122 CL E G H	55764	218330	Cranioectodermal dysplasia 1	218330	C0432235	OMIM	1	317	13556	606045
HP:0001816	HP:0012746	Thin toenail	1	IFT122 CL E G H	55764	218330	Cranioectodermal dysplasia 1	218330	C0432235	OMIM	1	391	13556	606045
HP:0001816	HP:0012746	Thin toenail	1	IFT122 CL E G H	55764	218330	Cranioectodermal dysplasia 1	218330	C0432235	OMIM	1	317	13556	606045
HP:0001816	HP:0012742	Thin fingernail	1	LMNA CL E G H	4000	740	Aortic arch interruption			ORPHA	1	1486	6636	150330
HP:0001816	HP:0012742	Thin fingernail	1	LMNA CL E G H	4000	740	Aortic arch interruption			ORPHA	1	1347	6636	150330
HP:0001816	HP:0012746	Thin toenail	1	LMNA CL E G H	4000	740	Aortic arch interruption			ORPHA	1	1486	6636	150330
HP:0001816	HP:0012746	Thin toenail	1	LMNA CL E G H	4000	740	Aortic arch interruption			ORPHA	1	1347	6636	150330
HP:0001816	HP:0012742	Thin fingernail	1	NSD1 CL E G H	64324	3447				ORPHA	1	1240	14234	606681
HP:0001816	HP:0012742	Thin fingernail	1	NSD1 CL E G H	64324	3447				ORPHA	1	1154	14234	606681
HP:0001816	HP:0012746	Thin toenail	1	NSD1 CL E G H	64324	3447				ORPHA	1	1240	14234	606681
HP:0001816	HP:0012746	Thin toenail	1	NSD1 CL E G H	64324	3447				ORPHA	1	1154	14234	606681
HP:0001816	HP:0012746	Thin toenail	1	SUZ12 CL E G H	23512	3447				ORPHA	1	93	17101	606245
HP:0001816	HP:0012746	Thin toenail	1	SUZ12 CL E G H	23512	3447				ORPHA	1	88	17101	606245
HP:0001816	HP:0012742	Thin fingernail	1	SUZ12 CL E G H	23512	3447				ORPHA	1	93	17101	606245
HP:0001816	HP:0012742	Thin fingernail	1	SUZ12 CL E G H	23512	3447				ORPHA	1	88	17101	606245
HP:0001816	HP:0012742	Thin fingernail	1	TRPS1 CL E G H	7227	190350	Trichorhinophalangeal dysplasia type I	190350	C0432233	OMIM	1	336	12340	604386
HP:0001816	HP:0012742	Thin fingernail	1	TRPS1 CL E G H	7227	190350	Trichorhinophalangeal dysplasia type I	190350	C0432233	OMIM	1	270	12340	604386
HP:0001816	HP:0012746	Thin toenail	1	TRPS1 CL E G H	7227	190350	Trichorhinophalangeal dysplasia type I	190350	C0432233	OMIM	1	336	12340	604386
HP:0001816	HP:0012746	Thin toenail	1	TRPS1 CL E G H	7227	190350	Trichorhinophalangeal dysplasia type I	190350	C0432233	OMIM	1	270	12340	604386
HP:0001816	HP:0012746	Thin toenail	1	WNT10A CL E G H	80326	224750	Schopf-Schulz-Passarge syndrome	224750	C1857069	OMIM	1	309	13829	606268
HP:0001816	HP:0012746	Thin toenail	1	WNT10A CL E G H	80326	224750	Schopf-Schulz-Passarge syndrome	224750	C1857069	OMIM	1	291	13829	606268
HP:0001816	HP:0012742	Thin fingernail	1	WNT10A CL E G H	80326	224750	Schopf-Schulz-Passarge syndrome	224750	C1857069	OMIM	1	309	13829	606268
HP:0001816	HP:0012742	Thin fingernail	1	WNT10A CL E G H	80326	224750	Schopf-Schulz-Passarge syndrome	224750	C1857069	OMIM	1	291	13829	606268
HP:0001816	HP:0012746	Thin toenail	1	ZMPSTE24 CL E G H	10269	740	Aortic arch interruption			ORPHA	1	167	12877	606480
HP:0001816	HP:0012746	Thin toenail	1	ZMPSTE24 CL E G H	10269	740	Aortic arch interruption			ORPHA	1	149	12877	606480
HP:0001816	HP:0012742	Thin fingernail	1	ZMPSTE24 CL E G H	10269	740	Aortic arch interruption			ORPHA	1	167	12877	606480
HP:0001816	HP:0012742	Thin fingernail	1	ZMPSTE24 CL E G H	10269	740	Aortic arch interruption			ORPHA	1	149	12877	606480
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001816	HP:0001816	Thin nail	0	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	0	291	430	603741
HP:0001816	HP:0001816	Thin nail	0	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	0	285	430	603741
HP:0001816	HP:0001816	Thin nail	0	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	0	209	13743	607206
HP:0001816	HP:0001816	Thin nail	0	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	0	202	13743	607206
HP:0001816	HP:0012742	Thin fingernail	1	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	0	291	430	603741
HP:0001816	HP:0012742	Thin fingernail	1	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	0	285	430	603741
HP:0001816	HP:0012746	Thin toenail	1	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	0	291	430	603741
HP:0001816	HP:0012746	Thin toenail	1	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	0	285	430	603741
HP:0001816	HP:0012746	Thin toenail	1	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	0	209	13743	607206
HP:0001816	HP:0012746	Thin toenail	1	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	0	202	13743	607206
HP:0001816	HP:0012742	Thin fingernail	1	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	0	209	13743	607206
HP:0001816	HP:0012742	Thin fingernail	1	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	0	202	13743	607206