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:0001807	HP:0001807	Ridged nail	0	ATP2A2 CL E G H	488	101900	Acrokeratosis verruciformis of Hopf	101900	C0265971	OMIM	1	184	812	108740
HP:0001807	HP:0001807	Ridged nail	0	ATP2A2 CL E G H	488	101900	Acrokeratosis verruciformis of Hopf	101900	C0265971	OMIM	1	180	812	108740
HP:0001807	HP:0001807	Ridged nail	0	ATP2A2 CL E G H	488	124200	Keratosis follicularis	124200	C0022595	OMIM	1	184	812	108740
HP:0001807	HP:0001807	Ridged nail	0	ATP2A2 CL E G H	488	124200	Keratosis follicularis	124200	C0022595	OMIM	1	180	812	108740
HP:0001807	HP:0001807	Ridged nail	0	CTSK CL E G H	1513	763				ORPHA	1	186	2536	601105
HP:0001807	HP:0001807	Ridged nail	0	CTSK CL E G H	1513	763				ORPHA	1	163	2536	601105
HP:0001807	HP:0001807	Ridged nail	0	CTSK CL E G H	1513	265800	Pyknodysostosis	265800	C0238402	OMIM	1	186	2536	601105
HP:0001807	HP:0001807	Ridged nail	0	CTSK CL E G H	1513	265800	Pyknodysostosis	265800	C0238402	OMIM	1	163	2536	601105
HP:0001807	HP:0001807	Ridged nail	0	DKC1 CL E G H	1736	305000	Dyskeratosis congenita X-linked	305000	C1148551	OMIM	1	426	2890	300126
HP:0001807	HP:0001807	Ridged nail	0	DKC1 CL E G H	1736	305000	Dyskeratosis congenita X-linked	305000	C1148551	OMIM	1	396	2890	300126
HP:0001807	HP:0001807	Ridged nail	0	EFNB1 CL E G H	1947	304110	Craniofrontonasal dysplasia	304110	C0220767	OMIM	1	210	3226	300035
HP:0001807	HP:0001807	Ridged nail	0	EFNB1 CL E G H	1947	304110	Craniofrontonasal dysplasia	304110	C0220767	OMIM	1	201	3226	300035
HP:0001807	HP:0001807	Ridged nail	0	FERMT1 CL E G H	55612	173650	Kindler's syndrome	173650	C0406557	OMIM	1	372	15889	607900
HP:0001807	HP:0001807	Ridged nail	0	FERMT1 CL E G H	55612	173650	Kindler's syndrome	173650	C0406557	OMIM	1	301	15889	607900
HP:0001807	HP:0001807	Ridged nail	0	FOXN1 CL E G H	8456	169095				ORPHA	1	368	12765	600838
HP:0001807	HP:0001807	Ridged nail	0	FOXN1 CL E G H	8456	169095				ORPHA	1	305	12765	600838
HP:0001807	HP:0001807	Ridged nail	0	FOXN1 CL E G H	8456	601705	T-cell immunodeficiency, congenital alopecia and nail dystrophy	601705	C1866426	OMIM	1	368	12765	600838
HP:0001807	HP:0001807	Ridged nail	0	FOXN1 CL E G H	8456	601705	T-cell immunodeficiency, congenital alopecia and nail dystrophy	601705	C1866426	OMIM	1	305	12765	600838
HP:0001807	HP:0001807	Ridged nail	0	IKBKG CL E G H	8517	308300	Incontinentia pigmenti syndrome	308300	C0021171	OMIM	1	337	5961	300248
HP:0001807	HP:0001807	Ridged nail	0	IKBKG CL E G H	8517	308300	Incontinentia pigmenti syndrome	308300	C0021171	OMIM	1	326	5961	300248
HP:0001807	HP:0001807	Ridged nail	0	KRT14 CL E G H	3861	601001	Epidermolysis bullosa simplex, autosomal recessive	601001	C1832926	OMIM	1	155	6416	148066
HP:0001807	HP:0001807	Ridged nail	0	KRT14 CL E G H	3861	601001	Epidermolysis bullosa simplex, autosomal recessive	601001	C1832926	OMIM	1	148	6416	148066
HP:0001807	HP:0001807	Ridged nail	0	KRT5 CL E G H	3852	601001	Epidermolysis bullosa simplex, autosomal recessive	601001	C1832926	OMIM	1	252	6442	148040
HP:0001807	HP:0001807	Ridged nail	0	KRT5 CL E G H	3852	601001	Epidermolysis bullosa simplex, autosomal recessive	601001	C1832926	OMIM	1	241	6442	148040
HP:0001807	HP:0001807	Ridged nail	0	LMX1B CL E G H	4010	2614				ORPHA	1	430	6654	602575
HP:0001807	HP:0001807	Ridged nail	0	LMX1B CL E G H	4010	2614				ORPHA	1	374	6654	602575
HP:0001807	HP:0001807	Ridged nail	0	LMX1B CL E G H	4010	161200	Nail-patella syndrome	161200	C0027341	OMIM	1	430	6654	602575
HP:0001807	HP:0001807	Ridged nail	0	LMX1B CL E G H	4010	161200	Nail-patella syndrome	161200	C0027341	OMIM	1	374	6654	602575
HP:0001807	HP:0001807	Ridged nail	0	MSX1 CL E G H	4487	189500	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	189500	C0406735	OMIM	1	158	7391	142983
HP:0001807	HP:0001807	Ridged nail	0	MSX1 CL E G H	4487	189500	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	189500	C0406735	OMIM	1	150	7391	142983
HP:0001807	HP:0001807	Ridged nail	0	SLC39A4 CL E G H	55630	37	Chromosome 3, monosomy 3p		C0795806	ORPHA	1	486	17129	607059
HP:0001807	HP:0001807	Ridged nail	0	SLC39A4 CL E G H	55630	37	Chromosome 3, monosomy 3p		C0795806	ORPHA	1	449	17129	607059
HP:0001807	HP:0001807	Ridged nail	0	TERC CL E G H	7012	127550	Dyskeratosis congenita autosomal dominant	127550	C1851970	OMIM	1	291	11727	602322
HP:0001807	HP:0001807	Ridged nail	0	TERC CL E G H	7012	127550	Dyskeratosis congenita autosomal dominant	127550	C1851970	OMIM	1	227	11727	602322
HP:0001807	HP:0001807	Ridged nail	0	TERT CL E G H	7015	127550	Dyskeratosis congenita autosomal dominant	127550	C1851970	OMIM	1	1887	11730	187270
HP:0001807	HP:0001807	Ridged nail	0	TERT CL E G H	7015	127550	Dyskeratosis congenita autosomal dominant	127550	C1851970	OMIM	1	1606	11730	187270
HP:0001807	HP:0001807	Ridged nail	0	TINF2 CL E G H	26277	127550	Dyskeratosis congenita autosomal dominant	127550	C1851970	OMIM	1	288	11824	604319
HP:0001807	HP:0001807	Ridged nail	0	TINF2 CL E G H	26277	127550	Dyskeratosis congenita autosomal dominant	127550	C1851970	OMIM	1	230	11824	604319
HP:0001807	HP:0001807	Ridged nail	0	WNT10A CL E G H	80326	224750	Schopf-Schulz-Passarge syndrome	224750	C1857069	OMIM	1	309	13829	606268
HP:0001807	HP:0001807	Ridged nail	0	WNT10A CL E G H	80326	224750	Schopf-Schulz-Passarge syndrome	224750	C1857069	OMIM	1	291	13829	606268
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001807	HP:0001807	Ridged nail	0	ATR CL E G H	545	614564	Cutaneous telangiectasia and cancer syndrome, familial	614564	C3281203	OMIM	0	1007	882	601215
HP:0001807	HP:0001807	Ridged nail	0	ATR CL E G H	545	614564	Cutaneous telangiectasia and cancer syndrome, familial	614564	C3281203	OMIM	0	755	882	601215
HP:0001807	HP:0001807	Ridged nail	0	LPAR6 CL E G H	10161	278150	Hypotrichosis 8	278150	C1848435	OMIM	0	101	15520	609239
HP:0001807	HP:0001807	Ridged nail	0	LPAR6 CL E G H	10161	278150	Hypotrichosis 8	278150	C1848435	OMIM	0	96	15520	609239