Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the nail (HP:0001597)

Parent Node:
Aplasia/Hypoplasia of the nails (HP:0008386)

..Starting node
..Anonychia (HP:0001798)

Term ID:

1798

Name:

Anonychia

Synonym:

Absent nails; Aplastic nails

Definition:

Aplasia of the nail.

Comments:

Reference:

HP:0001798

Genes and Diseases:

Child Nodes:

........

Absent toenail (HP:0001802)

................... HP:0012555 Absent nail of hallux
................... HP:0200105 Absent fifth toenail

........

Absent fingernail (HP:0001817)

................... HP:0012554 Absent thumbnail
................... HP:0200104 Absent fifth fingernail

Sister Nodes:

Aplastic/hypoplastic toenail (HP:0010624)

Short nail (HP:0001799)

Small nail (HP:0001792)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001798	HP:0001798	Anonychia	0	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040283 - Occasional		23
HP:0001798	HP:0001798	Anonychia	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome			3179
HP:0001798	HP:0001798	Anonychia	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0001798	HP:0001798	Anonychia	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0001798	HP:0001798	Anonychia	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0001798	HP:0001798	Anonychia	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0001798	HP:0001798	Anonychia	0	ATP2A2 CL E G H	488	812	ORPHA:79151	Acrokeratosis verruciformis of Hopf	HP:0040283 - Occasional		86
HP:0001798	HP:0001798	Anonychia	0	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome			5
HP:0001798	HP:0001798	Anonychia	0	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant	.		5
HP:0001798	HP:0001798	Anonychia	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0001798	HP:0001798	Anonychia	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0001798	HP:0001798	Anonychia	0	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0001798	HP:0001798	Anonychia	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0001798	HP:0001798	Anonychia	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy			118
HP:0001798	HP:0001798	Anonychia	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy			405
HP:0001798	HP:0001798	Anonychia	0	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		129
HP:0001798	HP:0001798	Anonychia	0	COL17A1 CL E G H	1308	2194	ORPHA:79406	Late-onset junctional epidermolysis bullosa	HP:0040282 - Frequent		129
HP:0001798	HP:0001798	Anonychia	0	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa			263
HP:0001798	HP:0001798	Anonychia	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040283 - Occasional		263
HP:0001798	HP:0001798	Anonychia	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040282 - Frequent		263
HP:0001798	HP:0001798	Anonychia	0	COL7A1 CL E G H	1294	2214	ORPHA:158676	Localized dystrophic epidermolysis bullosa, nails only			263
HP:0001798	HP:0001798	Anonychia	0	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form	HP:0040282 - Frequent		263
HP:0001798	HP:0001798	Anonychia	0	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa	HP:0040282 - Frequent		263
HP:0001798	HP:0001798	Anonychia	0	COL7A1 CL E G H	1294	2214	ORPHA:79411	Self-improving dystrophic epidermolysis bullosa	HP:0040282 - Frequent		263
HP:0001798	HP:0001798	Anonychia	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0001798	HP:0001798	Anonychia	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0001798	HP:0001798	Anonychia	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0001798	HP:0001798	Anonychia	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0001798	HP:0001798	Anonychia	0	DSP CL E G H	1832	3052	OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA			747
HP:0001798	HP:0001798	Anonychia	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0001798	HP:0001798	Anonychia	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0001798	HP:0001798	Anonychia	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0001798	HP:0001798	Anonychia	0	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0001798	HP:0001798	Anonychia	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy			36
HP:0001798	HP:0001798	Anonychia	0	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome
HP:0001798	HP:0001798	Anonychia	0	GRHL2 CL E G H	79977	2799	OMIM:616029	Ectodermal dysplasia/short stature syndrome	.		33
HP:0001798	HP:0001798	Anonychia	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy			108
HP:0001798	HP:0001798	Anonychia	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy			5
HP:0001798	HP:0001798	Anonychia	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.		124
HP:0001798	HP:0001798	Anonychia	0	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		124
HP:0001798	HP:0001798	Anonychia	0	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0001798	HP:0001798	Anonychia	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy			145
HP:0001798	HP:0001798	Anonychia	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0001798	HP:0001798	Anonychia	0	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome	.		13
HP:0001798	HP:0001798	Anonychia	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0001798	HP:0001798	Anonychia	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0001798	HP:0001798	Anonychia	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0001798	HP:0001798	Anonychia	0	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0001798	HP:0001798	Anonychia	0	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex			110
HP:0001798	HP:0001798	Anonychia	0	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		116
HP:0001798	HP:0001798	Anonychia	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		116
HP:0001798	HP:0001798	Anonychia	0	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		167
HP:0001798	HP:0001798	Anonychia	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		167
HP:0001798	HP:0001798	Anonychia	0	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		135
HP:0001798	HP:0001798	Anonychia	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		135
HP:0001798	HP:0001798	Anonychia	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.		165
HP:0001798	HP:0001798	Anonychia	0	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome			124
HP:0001798	HP:0001798	Anonychia	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome			124
HP:0001798	HP:0001798	Anonychia	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0001798	HP:0001798	Anonychia	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040282 - Frequent		6
HP:0001798	HP:0001798	Anonychia	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0001798	HP:0001798	Anonychia	0	NOG CL E G H	9241	7866	ORPHA:140908	Brachydactyly type B2			22
HP:0001798	HP:0001798	Anonychia	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.		22
HP:0001798	HP:0001798	Anonychia	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0001798	HP:0001798	Anonychia	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0001798	HP:0001798	Anonychia	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001798	HP:0001798	Anonychia	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy			2
HP:0001798	HP:0001798	Anonychia	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0001798	HP:0001798	Anonychia	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.		759
HP:0001798	HP:0001798	Anonychia	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy			244
HP:0001798	HP:0001798	Anonychia	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0001798	HP:0001798	Anonychia	0	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome			68
HP:0001798	HP:0001798	Anonychia	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0001798	HP:0001798	Anonychia	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1	.		69
HP:0001798	HP:0001798	Anonychia	0	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1	.		120
HP:0001798	HP:0001798	Anonychia	0	RSPO4 CL E G H	343637	16175	OMIM:206800	Anonychia congenita	.	HP:0003577 - Congenital onset	8
HP:0001798	HP:0001798	Anonychia	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy			126
HP:0001798	HP:0001798	Anonychia	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy			427
HP:0001798	HP:0001798	Anonychia	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy			11
HP:0001798	HP:0001798	Anonychia	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0001798	HP:0001798	Anonychia	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	HP:0040284 - Very rare
HP:0001798	HP:0001798	Anonychia	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome	.		271
HP:0001798	HP:0001798	Anonychia	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0001798	HP:0001798	Anonychia	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.		140
HP:0001798	HP:0001798	Anonychia	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy			1
HP:0001798	HP:0001798	Anonychia	0	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia	.		71
HP:0001798	HP:0001798	Anonychia	0	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly			13
HP:0001798	HP:0001798	Anonychia	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency	.		13
HP:0001798	HP:0001798	Anonychia	0	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	HP:0040282 - Frequent		17
HP:0001798	HP:0001802	Absent toenail	1	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040282 - Frequent		3179
HP:0001798	HP:0001817	Absent fingernail	1	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040281 - Very frequent		3179
HP:0001798	HP:0001817	Absent fingernail	1	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		147
HP:0001798	HP:0001802	Absent toenail	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0001798	HP:0001817	Absent fingernail	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0001798	HP:0001817	Absent fingernail	1	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0001798	HP:0001802	Absent toenail	1	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome	HP:0040282 - Frequent		5
HP:0001798	HP:0001817	Absent fingernail	1	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome	HP:0040281 - Very frequent		5
HP:0001798	HP:0001802	Absent toenail	1	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant			5
HP:0001798	HP:0001817	Absent fingernail	1	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant			5
HP:0001798	HP:0001817	Absent fingernail	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040281 - Very frequent		5
HP:0001798	HP:0001817	Absent fingernail	1	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent		5
HP:0001798	HP:0001802	Absent toenail	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent		5
HP:0001798	HP:0001817	Absent fingernail	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent		5
HP:0001798	HP:0001817	Absent fingernail	1	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy			118
HP:0001798	HP:0001817	Absent fingernail	1	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy			405
HP:0001798	HP:0001817	Absent fingernail	1	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa	HP:0040283 - Occasional		263
HP:0001798	HP:0001802	Absent toenail	1	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa	HP:0040283 - Occasional		263
HP:0001798	HP:0001802	Absent toenail	1	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040283 - Occasional		263
HP:0001798	HP:0001802	Absent toenail	1	COL7A1 CL E G H	1294	2214	ORPHA:158676	Localized dystrophic epidermolysis bullosa, nails only	HP:0040283 - Occasional		263
HP:0001798	HP:0001817	Absent fingernail	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0001798	HP:0001802	Absent toenail	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0001798	HP:0001817	Absent fingernail	1	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		9
HP:0001798	HP:0001817	Absent fingernail	1	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0001798	HP:0001817	Absent fingernail	1	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		18
HP:0001798	HP:0001817	Absent fingernail	1	DSP CL E G H	1832	3052	OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA			747
HP:0001798	HP:0001802	Absent toenail	1	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent		747
HP:0001798	HP:0001817	Absent fingernail	1	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent		747
HP:0001798	HP:0001817	Absent fingernail	1	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		4
HP:0001798	HP:0001817	Absent fingernail	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0001798	HP:0001817	Absent fingernail	1	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy			36
HP:0001798	HP:0001802	Absent toenail	1	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome	HP:0040284 - Very rare
HP:0001798	HP:0001817	Absent fingernail	1	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy			108
HP:0001798	HP:0001817	Absent fingernail	1	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy			5
HP:0001798	HP:0001817	Absent fingernail	1	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent		222
HP:0001798	HP:0001802	Absent toenail	1	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent		222
HP:0001798	HP:0001817	Absent fingernail	1	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy			145
HP:0001798	HP:0001817	Absent fingernail	1	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome			13
HP:0001798	HP:0001802	Absent toenail	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional		13
HP:0001798	HP:0001802	Absent toenail	1	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome			13
HP:0001798	HP:0001817	Absent fingernail	1	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent		13
HP:0001798	HP:0001817	Absent fingernail	1	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent		7
HP:0001798	HP:0001802	Absent toenail	1	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0001798	HP:0001802	Absent toenail	1	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex	HP:0040283 - Occasional		110
HP:0001798	HP:0001802	Absent toenail	1	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040282 - Frequent		124
HP:0001798	HP:0001817	Absent fingernail	1	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040281 - Very frequent		124
HP:0001798	HP:0001802	Absent toenail	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0001798	HP:0001817	Absent fingernail	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0001798	HP:0001817	Absent fingernail	1	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0001798	HP:0001817	Absent fingernail	1	NOG CL E G H	9241	7866	ORPHA:140908	Brachydactyly type B2	HP:0040281 - Very frequent		22
HP:0001798	HP:0001817	Absent fingernail	1	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		452
HP:0001798	HP:0001802	Absent toenail	1	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0001798	HP:0001802	Absent toenail	1	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001798	HP:0001817	Absent fingernail	1	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy			2
HP:0001798	HP:0001817	Absent fingernail	1	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0001798	HP:0001817	Absent fingernail	1	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy			244
HP:0001798	HP:0001817	Absent fingernail	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0001798	HP:0001802	Absent toenail	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0001798	HP:0001817	Absent fingernail	1	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		3
HP:0001798	HP:0001817	Absent fingernail	1	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy			126
HP:0001798	HP:0001817	Absent fingernail	1	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy			427
HP:0001798	HP:0001817	Absent fingernail	1	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy			11
HP:0001798	HP:0001817	Absent fingernail	1	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0001798	HP:0001817	Absent fingernail	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040281 - Very frequent		271
HP:0001798	HP:0001817	Absent fingernail	1	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy			1
HP:0001798	HP:0001802	Absent toenail	1	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly	.		13
HP:0001798	HP:0033975	Absent second fingernail	2	CL E G H
HP:0001798	HP:0200104	Absent fifth fingernail	2	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0001798	HP:0200105	Absent fifth toenail	2	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0001798	HP:0012554	Absent thumbnail	2	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		166
HP:0001798	HP:0012554	Absent thumbnail	2	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome	HP:0040283 - Occasional		5
HP:0001798	HP:0200104	Absent fifth fingernail	2	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome	HP:0040283 - Occasional		5
HP:0001798	HP:0200104	Absent fifth fingernail	2	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant			5
HP:0001798	HP:0012554	Absent thumbnail	2	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant			5
HP:0001798	HP:0012554	Absent thumbnail	2	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		118
HP:0001798	HP:0012554	Absent thumbnail	2	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		405
HP:0001798	HP:0012554	Absent thumbnail	2	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		3
HP:0001798	HP:0012554	Absent thumbnail	2	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		36
HP:0001798	HP:0012554	Absent thumbnail	2	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		108
HP:0001798	HP:0012554	Absent thumbnail	2	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		5
HP:0001798	HP:0012554	Absent thumbnail	2	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		145
HP:0001798	HP:0012555	Absent nail of hallux	2	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional		13
HP:0001798	HP:0012554	Absent thumbnail	2	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome			13
HP:0001798	HP:0012555	Absent nail of hallux	2	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome	.		13
HP:0001798	HP:0012554	Absent thumbnail	2	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare
HP:0001798	HP:0200105	Absent fifth toenail	2	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001798	HP:0012554	Absent thumbnail	2	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		2
HP:0001798	HP:0012554	Absent thumbnail	2	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		3
HP:0001798	HP:0012554	Absent thumbnail	2	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		244
HP:0001798	HP:0012554	Absent thumbnail	2	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		126
HP:0001798	HP:0012554	Absent thumbnail	2	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		427
HP:0001798	HP:0012554	Absent thumbnail	2	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		11
HP:0001798	HP:0012554	Absent thumbnail	2	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		166
HP:0001798	HP:0012554	Absent thumbnail	2	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		1

Genes (64) :ACTG2 APC ARHGAP31 ARID1A ARID1B ARX ATP2A2 ATP6V1B2 BCR CASK CDKL5 COL17A1 COL7A1 CRKL DLL4 DMXL2 DOCK6 DSP EOGT FIG4 GJB6 GNAO1 GPC4 GRHL2 GRIN1 GRM7 ITGB4 JUP KCNA1 KCNH1 KCNN3 KRT14 LAMA3 LAMB3 LAMC2 LMX1B LRP4 MAPK1 MMP1 NEUROD2 NOG NOTCH1 PIGF PIGP PIGQ PLEC PNKP PORCN RBBP8 RBPJ RIPK4 ROR2 RSPO4 SCN1B SCN2A SIK1 SLC25A22 SLC25A24 TBC1D24 TP63 TRIM8 WNT10A WNT7A ZBTB20

Diseases (53) :ORPHA:2604 ORPHA:3258 ORPHA:974 OMIM:614607 OMIM:135900 ORPHA:1934 ORPHA:79151 ORPHA:79499 OMIM:124480 ORPHA:79500 ORPHA:3473 OMIM:616455 ORPHA:261330 ORPHA:79402 ORPHA:79406 ORPHA:231568 ORPHA:89842 ORPHA:79408 ORPHA:158676 ORPHA:79410 ORPHA:79409 ORPHA:79411 OMIM:609638 ORPHA:158687 OMIM:216340 ORPHA:189 OMIM:301026 OMIM:616029 OMIM:226730 ORPHA:420561 OMIM:611816 OMIM:135500 OMIM:618658 ORPHA:89838 ORPHA:79404 OMIM:161200 OMIM:212780 ORPHA:140908 OMIM:186500 OMIM:616028 OMIM:619356 OMIM:305600 OMIM:251255 OMIM:263650 OMIM:113000 OMIM:206800 OMIM:612289 OMIM:220500 OMIM:106260 OMIM:257980 OMIM:228930 OMIM:276820 ORPHA:3042

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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