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:0008388	HP:0008388	Abnormal toenail morphology	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional	6
HP:0008388	HP:0008388	Abnormal toenail morphology	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040282 - Frequent	95
HP:0008388	HP:0008388	Abnormal toenail morphology	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome		3179
HP:0008388	HP:0008388	Abnormal toenail morphology	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome		147
HP:0008388	HP:0008388	Abnormal toenail morphology	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0008388	HP:0008388	Abnormal toenail morphology	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0008388	HP:0008388	Abnormal toenail morphology	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0008388	HP:0008388	Abnormal toenail morphology	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0008388	HP:0008388	Abnormal toenail morphology	0	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome		5
HP:0008388	HP:0008388	Abnormal toenail morphology	0	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant		5
HP:0008388	HP:0008388	Abnormal toenail morphology	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040281 - Very frequent	5
HP:0008388	HP:0008388	Abnormal toenail morphology	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0008388	HP:0008388	Abnormal toenail morphology	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0008388	HP:0008388	Abnormal toenail morphology	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0008388	HP:0008388	Abnormal toenail morphology	0	BHLHA9 CL E G H	727857	35126	OMIM:607539	Camptosynpolydactyly, complex		4
HP:0008388	HP:0008388	Abnormal toenail morphology	0	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies		13
HP:0008388	HP:0008388	Abnormal toenail morphology	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0008388	HP:0008388	Abnormal toenail morphology	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome		7
HP:0008388	HP:0008388	Abnormal toenail morphology	0	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent	3
HP:0008388	HP:0008388	Abnormal toenail morphology	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0008388	HP:0008388	Abnormal toenail morphology	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1		215
HP:0008388	HP:0008388	Abnormal toenail morphology	0	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa		129
HP:0008388	HP:0008388	Abnormal toenail morphology	0	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa		263
HP:0008388	HP:0008388	Abnormal toenail morphology	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form		263
HP:0008388	HP:0008388	Abnormal toenail morphology	0	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa	HP:0040283 - Occasional	263
HP:0008388	HP:0008388	Abnormal toenail morphology	0	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form		263
HP:0008388	HP:0008388	Abnormal toenail morphology	0	COL7A1 CL E G H	1294	2214	ORPHA:158676	Localized dystrophic epidermolysis bullosa, nails only		263
HP:0008388	HP:0008388	Abnormal toenail morphology	0	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form	HP:0040282 - Frequent	263
HP:0008388	HP:0008388	Abnormal toenail morphology	0	COL7A1 CL E G H	1294	2214	OMIM:607523	NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8; NDNC8		263
HP:0008388	HP:0008388	Abnormal toenail morphology	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0008388	HP:0008388	Abnormal toenail morphology	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0008388	HP:0008388	Abnormal toenail morphology	0	CSTB CL E G H	1476	2482	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	51
HP:0008388	HP:0008388	Abnormal toenail morphology	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita		160
HP:0008388	HP:0008388	Abnormal toenail morphology	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita		65
HP:0008388	HP:0008388	Abnormal toenail morphology	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome		9
HP:0008388	HP:0008388	Abnormal toenail morphology	0	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6		9
HP:0008388	HP:0008388	Abnormal toenail morphology	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0008388	HP:0008388	Abnormal toenail morphology	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome		18
HP:0008388	HP:0008388	Abnormal toenail morphology	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0008388	HP:0008388	Abnormal toenail morphology	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0008388	HP:0008388	Abnormal toenail morphology	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0008388	HP:0008388	Abnormal toenail morphology	0	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair		3
HP:0008388	HP:0008388	Abnormal toenail morphology	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder		747
HP:0008388	HP:0008388	Abnormal toenail morphology	0	DST CL E G H	667	1090	OMIM:615425	Epidermolysis bullosa simplex, autosomal recessive 2		108
HP:0008388	HP:0008388	Abnormal toenail morphology	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome		7
HP:0008388	HP:0008388	Abnormal toenail morphology	0	EDAR CL E G H	10913	2895	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	86
HP:0008388	HP:0008388	Abnormal toenail morphology	0	EDARADD CL E G H	128178	14341	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	56
HP:0008388	HP:0008388	Abnormal toenail morphology	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome		4
HP:0008388	HP:0008388	Abnormal toenail morphology	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0008388	HP:0008388	Abnormal toenail morphology	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0008388	HP:0008388	Abnormal toenail morphology	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0008388	HP:0008388	Abnormal toenail morphology	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome		4
HP:0008388	HP:0008388	Abnormal toenail morphology	0	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0008388	HP:0008388	Abnormal toenail morphology	0	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040281 - Very frequent	209
HP:0008388	HP:0008388	Abnormal toenail morphology	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome		209
HP:0008388	HP:0008388	Abnormal toenail morphology	0	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040281 - Very frequent	137
HP:0008388	HP:0008388	Abnormal toenail morphology	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome		137
HP:0008388	HP:0008388	Abnormal toenail morphology	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome		81
HP:0008388	HP:0008388	Abnormal toenail morphology	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040282 - Frequent	136
HP:0008388	HP:0008388	Abnormal toenail morphology	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia		172
HP:0008388	HP:0008388	Abnormal toenail morphology	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0008388	HP:0008388	Abnormal toenail morphology	0	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1		90
HP:0008388	HP:0008388	Abnormal toenail morphology	0	FLT4 CL E G H	2324	3767	ORPHA:79452	Milroy disease		90
HP:0008388	HP:0008388	Abnormal toenail morphology	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0008388	HP:0008388	Abnormal toenail morphology	0	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly		52
HP:0008388	HP:0008388	Abnormal toenail morphology	0	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans	HP:0040283 - Occasional	199
HP:0008388	HP:0008388	Abnormal toenail morphology	0	GJC2 CL E G H	57165	17494	ORPHA:79452	Milroy disease		37
HP:0008388	HP:0008388	Abnormal toenail morphology	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome		1
HP:0008388	HP:0008388	Abnormal toenail morphology	0	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome
HP:0008388	HP:0008388	Abnormal toenail morphology	0	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome
HP:0008388	HP:0008388	Abnormal toenail morphology	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040282 - Frequent	5
HP:0008388	HP:0008388	Abnormal toenail morphology	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0008388	HP:0008388	Abnormal toenail morphology	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0008388	HP:0008388	Abnormal toenail morphology	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0008388	HP:0008388	Abnormal toenail morphology	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0008388	HP:0008388	Abnormal toenail morphology	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome		113
HP:0008388	HP:0008388	Abnormal toenail morphology	0	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	93
HP:0008388	HP:0008388	Abnormal toenail morphology	0	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	11
HP:0008388	HP:0008388	Abnormal toenail morphology	0	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	4
HP:0008388	HP:0008388	Abnormal toenail morphology	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional	52
HP:0008388	HP:0008388	Abnormal toenail morphology	0	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent	14
HP:0008388	HP:0008388	Abnormal toenail morphology	0	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent	196
HP:0008388	HP:0008388	Abnormal toenail morphology	0	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent	4
HP:0008388	HP:0008388	Abnormal toenail morphology	0	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia		18
HP:0008388	HP:0008388	Abnormal toenail morphology	0	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa		124
HP:0008388	HP:0008388	Abnormal toenail morphology	0	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder		222
HP:0008388	HP:0008388	Abnormal toenail morphology	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome		13
HP:0008388	HP:0008388	Abnormal toenail morphology	0	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome		13
HP:0008388	HP:0008388	Abnormal toenail morphology	0	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0008388	HP:0008388	Abnormal toenail morphology	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0008388	HP:0008388	Abnormal toenail morphology	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome		3
HP:0008388	HP:0008388	Abnormal toenail morphology	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040282 - Frequent	46
HP:0008388	HP:0008388	Abnormal toenail morphology	0	KIF1A CL E G H	547	888	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2		276
HP:0008388	HP:0008388	Abnormal toenail morphology	0	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss		5
HP:0008388	HP:0008388	Abnormal toenail morphology	0	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex	HP:0040282 - Frequent	110
HP:0008388	HP:0008388	Abnormal toenail morphology	0	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:0008388	HP:0008388	Abnormal toenail morphology	0	KRT5 CL E G H	3852	6442	OMIM:619594	EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED; EBS2C		173
HP:0008388	HP:0008388	Abnormal toenail morphology	0	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation		173
HP:0008388	HP:0008388	Abnormal toenail morphology	0	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type		5
HP:0008388	HP:0008388	Abnormal toenail morphology	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0008388	HP:0008388	Abnormal toenail morphology	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0008388	HP:0008388	Abnormal toenail morphology	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0008388	HP:0008388	Abnormal toenail morphology	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:0008388	HP:0008388	Abnormal toenail morphology	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome		124
HP:0008388	HP:0008388	Abnormal toenail morphology	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		2
HP:0008388	HP:0008388	Abnormal toenail morphology	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0008388	HP:0008388	Abnormal toenail morphology	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0008388	HP:0008388	Abnormal toenail morphology	0	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome		12
HP:0008388	HP:0008388	Abnormal toenail morphology	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0008388	HP:0008388	Abnormal toenail morphology	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome		4
HP:0008388	HP:0008388	Abnormal toenail morphology	0	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1		7
HP:0008388	HP:0008388	Abnormal toenail morphology	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita		27
HP:0008388	HP:0008388	Abnormal toenail morphology	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0008388	HP:0008388	Abnormal toenail morphology	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita		17
HP:0008388	HP:0008388	Abnormal toenail morphology	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome		452
HP:0008388	HP:0008388	Abnormal toenail morphology	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0008388	HP:0008388	Abnormal toenail morphology	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita		12
HP:0008388	HP:0008388	Abnormal toenail morphology	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome		544
HP:0008388	HP:0008388	Abnormal toenail morphology	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0008388	HP:0008388	Abnormal toenail morphology	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome		1
HP:0008388	HP:0008388	Abnormal toenail morphology	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita		26
HP:0008388	HP:0008388	Abnormal toenail morphology	0	PERP CL E G H	64065	17637	OMIM:619209	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0008388	HP:0008388	Abnormal toenail morphology	0	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent	169
HP:0008388	HP:0008388	Abnormal toenail morphology	0	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent	98
HP:0008388	HP:0008388	Abnormal toenail morphology	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0008388	HP:0008388	Abnormal toenail morphology	0	PLCD1 CL E G H	5333	9060	ORPHA:2387	Leukonychia totalis	HP:0040281 - Very frequent	5
HP:0008388	HP:0008388	Abnormal toenail morphology	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0008388	HP:0008388	Abnormal toenail morphology	0	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		9
HP:0008388	HP:0008388	Abnormal toenail morphology	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome		10
HP:0008388	HP:0008388	Abnormal toenail morphology	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0008388	HP:0008388	Abnormal toenail morphology	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0008388	HP:0008388	Abnormal toenail morphology	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040282 - Frequent	90
HP:0008388	HP:0008388	Abnormal toenail morphology	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040282 - Frequent	135
HP:0008388	HP:0008388	Abnormal toenail morphology	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.	135
HP:0008388	HP:0008388	Abnormal toenail morphology	0	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B		50
HP:0008388	HP:0008388	Abnormal toenail morphology	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome		3
HP:0008388	HP:0008388	Abnormal toenail morphology	0	RETREG1 CL E G H	54463	25964	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2		54
HP:0008388	HP:0008388	Abnormal toenail morphology	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0008388	HP:0008388	Abnormal toenail morphology	0	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome		69
HP:0008388	HP:0008388	Abnormal toenail morphology	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita		77
HP:0008388	HP:0008388	Abnormal toenail morphology	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia		90
HP:0008388	HP:0008388	Abnormal toenail morphology	0	SCN9A CL E G H	6335	10597	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2		318
HP:0008388	HP:0008388	Abnormal toenail morphology	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0008388	HP:0008388	Abnormal toenail morphology	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0008388	HP:0008388	Abnormal toenail morphology	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3		53
HP:0008388	HP:0008388	Abnormal toenail morphology	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0008388	HP:0008388	Abnormal toenail morphology	0	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		74
HP:0008388	HP:0008388	Abnormal toenail morphology	0	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis		66
HP:0008388	HP:0008388	Abnormal toenail morphology	0	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia		9
HP:0008388	HP:0008388	Abnormal toenail morphology	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0008388	HP:0008388	Abnormal toenail morphology	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0008388	HP:0008388	Abnormal toenail morphology	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0008388	HP:0008388	Abnormal toenail morphology	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0008388	HP:0008388	Abnormal toenail morphology	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0008388	HP:0008388	Abnormal toenail morphology	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0008388	HP:0008388	Abnormal toenail morphology	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0008388	HP:0008388	Abnormal toenail morphology	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0008388	HP:0008388	Abnormal toenail morphology	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0008388	HP:0008388	Abnormal toenail morphology	0	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome		7
HP:0008388	HP:0008388	Abnormal toenail morphology	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0008388	HP:0008388	Abnormal toenail morphology	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0008388	HP:0008388	Abnormal toenail morphology	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome		1
HP:0008388	HP:0008388	Abnormal toenail morphology	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0008388	HP:0008388	Abnormal toenail morphology	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0008388	HP:0008388	Abnormal toenail morphology	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040281 - Very frequent	271
HP:0008388	HP:0008388	Abnormal toenail morphology	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0008388	HP:0008388	Abnormal toenail morphology	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome		100
HP:0008388	HP:0008388	Abnormal toenail morphology	0	TBX4 CL E G H	9496	11603	ORPHA:238578	Familial clubfoot due to 17q23.1q23.2 microduplication		55
HP:0008388	HP:0008388	Abnormal toenail morphology	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0008388	HP:0008388	Abnormal toenail morphology	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder		12
HP:0008388	HP:0008388	Abnormal toenail morphology	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita		48
HP:0008388	HP:0008388	Abnormal toenail morphology	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita		238
HP:0008388	HP:0008388	Abnormal toenail morphology	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita		60
HP:0008388	HP:0008388	Abnormal toenail morphology	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0008388	HP:0008388	Abnormal toenail morphology	0	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome		140
HP:0008388	HP:0008388	Abnormal toenail morphology	0	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent	4
HP:0008388	HP:0008388	Abnormal toenail morphology	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita		1
HP:0008388	HP:0008388	Abnormal toenail morphology	0	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria	HP:0040282 - Frequent	135
HP:0008388	HP:0008388	Abnormal toenail morphology	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita		8
HP:0008388	HP:0008388	Abnormal toenail morphology	0	VEGFC CL E G H	7424	12682	OMIM:615907	Lymphedema, hereditary, ID		4
HP:0008388	HP:0008388	Abnormal toenail morphology	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0008388	HP:0008388	Abnormal toenail morphology	0	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	95
HP:0008388	HP:0008388	Abnormal toenail morphology	0	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	136
HP:0008388	HP:0008388	Abnormal toenail morphology	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0008388	HP:0008388	Abnormal toenail morphology	0	WNK1 CL E G H	65125	14540	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2		199
HP:0008388	HP:0008388	Abnormal toenail morphology	0	WNT10A CL E G H	80326	13829	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	71
HP:0008388	HP:0008388	Abnormal toenail morphology	0	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0008388	HP:0008388	Abnormal toenail morphology	0	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4		71
HP:0008388	HP:0008388	Abnormal toenail morphology	0	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly		13
HP:0008388	HP:0008388	Abnormal toenail morphology	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita		40
HP:0008388	HP:0008388	Abnormal toenail morphology	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0008388	HP:0008388	Abnormal toenail morphology	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0008388	HP:0008388	Abnormal toenail morphology	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0008388	HP:0008388	Abnormal toenail morphology	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040281 - Very frequent	5
HP:0008388	HP:0040040	Toenail onycholysis	1	CL E G H
HP:0008388	HP:0008393	Congenital curved nail of fourth toe	1	CL E G H
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome		6
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome		3179
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	147
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome		5
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant		5
HP:0008388	HP:0100797	Toenail dysplasia	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040281 - Very frequent	5
HP:0008388	HP:0031282	Malalignment of the great toenail	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	5
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0008388	HP:0100797	Toenail dysplasia	1	BHLHA9 CL E G H	727857	35126	OMIM:607539	Camptosynpolydactyly, complex	.	4
HP:0008388	HP:0100797	Toenail dysplasia	1	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	HP:0040284 - Very rare	13
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040282 - Frequent	7
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1		215
HP:0008388	HP:0001810	Dystrophic toenail	1	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040283 - Occasional	129
HP:0008388	HP:0001810	Dystrophic toenail	1	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa	HP:0040282 - Frequent	263
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa		263
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form		263
HP:0008388	HP:0001810	Dystrophic toenail	1	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form	HP:0040282 - Frequent	263
HP:0008388	HP:0001810	Dystrophic toenail	1	COL7A1 CL E G H	1294	2214	ORPHA:158676	Localized dystrophic epidermolysis bullosa, nails only	HP:0040282 - Frequent	263
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	COL7A1 CL E G H	1294	2214	ORPHA:158676	Localized dystrophic epidermolysis bullosa, nails only		263
HP:0008388	HP:0001810	Dystrophic toenail	1	COL7A1 CL E G H	1294	2214	OMIM:607523	NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8; NDNC8		263
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	160
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	65
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	9
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6		9
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	18
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair		3
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder		747
HP:0008388	HP:0001810	Dystrophic toenail	1	DST CL E G H	667	1090	OMIM:615425	Epidermolysis bullosa simplex, autosomal recessive 2		108
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome		7
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome		4
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	4
HP:0008388	HP:0100797	Toenail dysplasia	1	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4	.	4
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type		209
HP:0008388	HP:0100797	Toenail dysplasia	1	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040281 - Very frequent	209
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome		209
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type		137
HP:0008388	HP:0100797	Toenail dysplasia	1	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040281 - Very frequent	137
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome		137
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome		81
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia		172
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0008388	HP:0032344	Upslanting toenail	1	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1		90
HP:0008388	HP:0100797	Toenail dysplasia	1	FLT4 CL E G H	2324	3767	ORPHA:79452	Milroy disease	HP:0040282 - Frequent	90
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly	.	52
HP:0008388	HP:0100797	Toenail dysplasia	1	GJC2 CL E G H	57165	17494	ORPHA:79452	Milroy disease	HP:0040282 - Frequent	37
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome		1
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome	HP:0040282 - Frequent
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome		113
HP:0008388	HP:0001810	Dystrophic toenail	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional	52
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia		18
HP:0008388	HP:0001810	Dystrophic toenail	1	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040283 - Occasional	124
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder		222
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040282 - Frequent	13
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome		13
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome		3
HP:0008388	HP:0001810	Dystrophic toenail	1	KIF1A CL E G H	547	888	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent	276
HP:0008388	HP:0001810	Dystrophic toenail	1	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss		5
HP:0008388	HP:0001810	Dystrophic toenail	1	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex	HP:0040283 - Occasional	110
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex		110
HP:0008388	HP:0031282	Malalignment of the great toenail	1	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:0008388	HP:0001810	Dystrophic toenail	1	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome	HP:0040281 - Very frequent	110
HP:0008388	HP:0001810	Dystrophic toenail	1	KRT5 CL E G H	3852	6442	OMIM:619594	EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED; EBS2C		173
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation		173
HP:0008388	HP:0001810	Dystrophic toenail	1	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type	.	5
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0008388	HP:0001810	Dystrophic toenail	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	645
HP:0008388	HP:0100797	Toenail dysplasia	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome		124
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		2
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome		12
HP:0008388	HP:0012746	Thin toenail	1	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome	HP:0040281 - Very frequent	12
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0008388	HP:0001810	Dystrophic toenail	1	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040282 - Frequent	4
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1		7
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	27
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	17
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	452
HP:0008388	HP:0001810	Dystrophic toenail	1	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	.	452
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	12
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome		544
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome		1
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	26
HP:0008388	HP:0001810	Dystrophic toenail	1	PERP CL E G H	64065	17637	OMIM:619209	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		9
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome		10
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0008388	HP:0001810	Dystrophic toenail	1	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B	.	50
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	3
HP:0008388	HP:0001810	Dystrophic toenail	1	RETREG1 CL E G H	54463	25964	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent	54
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome		69
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	77
HP:0008388	HP:0001810	Dystrophic toenail	1	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040283 - Occasional	90
HP:0008388	HP:0001810	Dystrophic toenail	1	SCN9A CL E G H	6335	10597	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent	318
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3		53
HP:0008388	HP:0100797	Toenail dysplasia	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome	.	53
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		74
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent	66
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia		9
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0008388	HP:0001810	Dystrophic toenail	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5	.	47
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0008388	HP:0100797	Toenail dysplasia	1	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome	.	7
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome		1
HP:0008388	HP:0100797	Toenail dysplasia	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0008388	HP:0031282	Malalignment of the great toenail	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	271
HP:0008388	HP:0100797	Toenail dysplasia	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040281 - Very frequent	271
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome		100
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	TBX4 CL E G H	9496	11603	ORPHA:238578	Familial clubfoot due to 17q23.1q23.2 microduplication		55
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder		12
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	48
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	238
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	60
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0008388	HP:0100797	Toenail dysplasia	1	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome	HP:0040281 - Very frequent	140
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	1
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	8
HP:0008388	HP:0100797	Toenail dysplasia	1	VEGFC CL E G H	7424	12682	OMIM:615907	Lymphedema, hereditary, ID	.	4
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0008388	HP:0001810	Dystrophic toenail	1	WNK1 CL E G H	65125	14540	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent	199
HP:0008388	HP:0001810	Dystrophic toenail	1	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0008388	HP:0001810	Dystrophic toenail	1	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4		71
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly		13
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	40
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0008388	HP:0001810	Dystrophic toenail	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	83
HP:0008388	HP:0010624	Aplastic/hypoplastic toenail	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0008388	HP:0001800	Hypoplastic toenails	2	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional	6
HP:0008388	HP:0001802	Absent toenail	2	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040282 - Frequent	3179
HP:0008388	HP:0001800	Hypoplastic toenails	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0008388	HP:0001802	Absent toenail	2	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0008388	HP:0001800	Hypoplastic toenails	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0008388	HP:0001800	Hypoplastic toenails	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0008388	HP:0001802	Absent toenail	2	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome	HP:0040282 - Frequent	5
HP:0008388	HP:0001800	Hypoplastic toenails	2	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome	HP:0040283 - Occasional	5
HP:0008388	HP:0001802	Absent toenail	2	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant		5
HP:0008388	HP:0001800	Hypoplastic toenails	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0008388	HP:0001800	Hypoplastic toenails	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0008388	HP:0001802	Absent toenail	2	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent	5
HP:0008388	HP:0001800	Hypoplastic toenails	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0008388	HP:0001800	Hypoplastic toenails	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0008388	HP:0001800	Hypoplastic toenails	2	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0008388	HP:0001802	Absent toenail	2	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa	HP:0040283 - Occasional	263
HP:0008388	HP:0001802	Absent toenail	2	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040283 - Occasional	263
HP:0008388	HP:0001802	Absent toenail	2	COL7A1 CL E G H	1294	2214	ORPHA:158676	Localized dystrophic epidermolysis bullosa, nails only	HP:0040283 - Occasional	263
HP:0008388	HP:0001800	Hypoplastic toenails	2	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0008388	HP:0001802	Absent toenail	2	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0008388	HP:0001800	Hypoplastic toenails	2	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6	HP:0040283 - Occasional	9
HP:0008388	HP:0001800	Hypoplastic toenails	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0008388	HP:0001800	Hypoplastic toenails	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0008388	HP:0001800	Hypoplastic toenails	2	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0008388	HP:0001800	Hypoplastic toenails	2	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040282 - Frequent	3
HP:0008388	HP:0001800	Hypoplastic toenails	2	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair	.	3
HP:0008388	HP:0001802	Absent toenail	2	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent	747
HP:0008388	HP:0001800	Hypoplastic toenails	2	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	7
HP:0008388	HP:0001800	Hypoplastic toenails	2	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	4
HP:0008388	HP:0001800	Hypoplastic toenails	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0008388	HP:0001800	Hypoplastic toenails	2	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0008388	HP:0001800	Hypoplastic toenails	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0008388	HP:0001800	Hypoplastic toenails	2	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4	.	4
HP:0008388	HP:0001800	Hypoplastic toenails	2	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040281 - Very frequent	209
HP:0008388	HP:0001800	Hypoplastic toenails	2	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	209
HP:0008388	HP:0001800	Hypoplastic toenails	2	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040281 - Very frequent	137
HP:0008388	HP:0001800	Hypoplastic toenails	2	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	137
HP:0008388	HP:0001800	Hypoplastic toenails	2	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	81
HP:0008388	HP:0001800	Hypoplastic toenails	2	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.	172
HP:0008388	HP:0001800	Hypoplastic toenails	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0008388	HP:0001800	Hypoplastic toenails	2	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0008388	HP:0001800	Hypoplastic toenails	2	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	1
HP:0008388	HP:0001802	Absent toenail	2	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome	HP:0040284 - Very rare
HP:0008388	HP:0001800	Hypoplastic toenails	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0008388	HP:0001800	Hypoplastic toenails	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0008388	HP:0001800	Hypoplastic toenails	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0008388	HP:0001800	Hypoplastic toenails	2	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0008388	HP:0001800	Hypoplastic toenails	2	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040282 - Frequent	113
HP:0008388	HP:0001800	Hypoplastic toenails	2	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia	HP:0040282 - Frequent	18
HP:0008388	HP:0001802	Absent toenail	2	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent	222
HP:0008388	HP:0001802	Absent toenail	2	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional	13
HP:0008388	HP:0001802	Absent toenail	2	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome		13
HP:0008388	HP:0001802	Absent toenail	2	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0008388	HP:0001800	Hypoplastic toenails	2	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0008388	HP:0001800	Hypoplastic toenails	2	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0008388	HP:0001802	Absent toenail	2	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex	HP:0040283 - Occasional	110
HP:0008388	HP:0001800	Hypoplastic toenails	2	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation		173
HP:0008388	HP:0001800	Hypoplastic toenails	2	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	88
HP:0008388	HP:0001800	Hypoplastic toenails	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0008388	HP:0001802	Absent toenail	2	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040282 - Frequent	124
HP:0008388	HP:0001802	Absent toenail	2	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0008388	HP:0001800	Hypoplastic toenails	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0008388	HP:0001800	Hypoplastic toenails	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0008388	HP:0001800	Hypoplastic toenails	2	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome	HP:0040281 - Very frequent	12
HP:0008388	HP:0001800	Hypoplastic toenails	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0008388	HP:0001800	Hypoplastic toenails	2	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1	.	7
HP:0008388	HP:0001800	Hypoplastic toenails	2	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0008388	HP:0001802	Absent toenail	2	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0008388	HP:0001800	Hypoplastic toenails	2	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	544
HP:0008388	HP:0001800	Hypoplastic toenails	2	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	84
HP:0008388	HP:0001800	Hypoplastic toenails	2	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional	1
HP:0008388	HP:0001800	Hypoplastic toenails	2	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0008388	HP:0001802	Absent toenail	2	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0008388	HP:0001802	Absent toenail	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0008388	HP:0001800	Hypoplastic toenails	2	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040283 - Occasional	9
HP:0008388	HP:0001800	Hypoplastic toenails	2	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome		10
HP:0008388	HP:0001800	Hypoplastic toenails	2	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	2
HP:0008388	HP:0001800	Hypoplastic toenails	2	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	2
HP:0008388	HP:0001800	Hypoplastic toenails	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0008388	HP:0001800	Hypoplastic toenails	2	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome	HP:0040281 - Very frequent	69
HP:0008388	HP:0001800	Hypoplastic toenails	2	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0008388	HP:0001800	Hypoplastic toenails	2	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0008388	HP:0001800	Hypoplastic toenails	2	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040281 - Very frequent	53
HP:0008388	HP:0001800	Hypoplastic toenails	2	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0008388	HP:0001800	Hypoplastic toenails	2	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040283 - Occasional	74
HP:0008388	HP:0001800	Hypoplastic toenails	2	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia	HP:0040282 - Frequent	9
HP:0008388	HP:0001800	Hypoplastic toenails	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0008388	HP:0001800	Hypoplastic toenails	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0008388	HP:0001800	Hypoplastic toenails	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0008388	HP:0001800	Hypoplastic toenails	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0008388	HP:0001800	Hypoplastic toenails	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0008388	HP:0001800	Hypoplastic toenails	2	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0008388	HP:0001800	Hypoplastic toenails	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0008388	HP:0001800	Hypoplastic toenails	2	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0008388	HP:0001800	Hypoplastic toenails	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0008388	HP:0001800	Hypoplastic toenails	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0008388	HP:0001800	Hypoplastic toenails	2	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	1
HP:0008388	HP:0001800	Hypoplastic toenails	2	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0008388	HP:0001800	Hypoplastic toenails	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0008388	HP:0001800	Hypoplastic toenails	2	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040283 - Occasional	100
HP:0008388	HP:0001800	Hypoplastic toenails	2	TBX4 CL E G H	9496	11603	ORPHA:238578	Familial clubfoot due to 17q23.1q23.2 microduplication	HP:0040283 - Occasional	55
HP:0008388	HP:0001800	Hypoplastic toenails	2	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040283 - Occasional	31
HP:0008388	HP:0001800	Hypoplastic toenails	2	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional	12
HP:0008388	HP:0001800	Hypoplastic toenails	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0008388	HP:0001800	Hypoplastic toenails	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0008388	HP:0001800	Hypoplastic toenails	2	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0008388	HP:0001802	Absent toenail	2	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly	.	13
HP:0008388	HP:0001800	Hypoplastic toenails	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0008388	HP:0001800	Hypoplastic toenails	2	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0008388	HP:0011937	Hypoplastic fifth toenail	3	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	88
HP:0008388	HP:0200105	Absent fifth toenail	3	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0008388	HP:0011937	Hypoplastic fifth toenail	3	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	219
HP:0008388	HP:0011937	Hypoplastic fifth toenail	3	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	25
HP:0008388	HP:0011937	Hypoplastic fifth toenail	3	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0008388	HP:0011937	Hypoplastic fifth toenail	3	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0008388	HP:0011937	Hypoplastic fifth toenail	3	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040282 - Frequent	11
HP:0008388	HP:0012555	Absent nail of hallux	3	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome	.	13
HP:0008388	HP:0012555	Absent nail of hallux	3	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional	13
HP:0008388	HP:0011937	Hypoplastic fifth toenail	3	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation		173
HP:0008388	HP:0200105	Absent fifth toenail	3	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0008388	HP:0011937	Hypoplastic fifth toenail	3	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare	10
HP:0008388	HP:0011937	Hypoplastic fifth toenail	3	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0008388	HP:0011937	Hypoplastic fifth toenail	3	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	617
HP:0008388	HP:0011937	Hypoplastic fifth toenail	3	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	87
HP:0008388	HP:0011937	Hypoplastic fifth toenail	3	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	1
HP:0008388	HP:0011937	Hypoplastic fifth toenail	3	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0008388	HP:0011937	Hypoplastic fifth toenail	3	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	47
HP:0008388	HP:0011937	Hypoplastic fifth toenail	3	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	14
HP:0008388	HP:0011937	Hypoplastic fifth toenail	3	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.	14
HP:0008388	HP:0011937	Hypoplastic fifth toenail	3	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent