Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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

Parent Node:
Aplastic/hypoplastic toenail (HP:0010624)

Parent Node:
Small nail (HP:0001792)

..Starting node
..Hypoplastic toenails (HP:0001800)

Term ID:

1800

Name:

Hypoplastic toenails

Synonym:

Underdeveloped toenails

Definition:

Underdevelopment of the toenail.

Comments:

Reference:

HP:0001800

Genes and Diseases:

Child Nodes:

........

Hypoplastic fifth toenail (HP:0011937)

Sister Nodes:

Hypoplastic fingernail (HP:0001804)

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:0001800	HP:0001800	Hypoplastic toenails	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:0001800	HP:0001800	Hypoplastic toenails	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0001800	HP:0001800	Hypoplastic toenails	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0001800	HP:0001800	Hypoplastic toenails	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0001800	HP:0001800	Hypoplastic toenails	0	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome	HP:0040283 - Occasional	5
HP:0001800	HP:0001800	Hypoplastic toenails	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001800	HP:0001800	Hypoplastic toenails	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001800	HP:0001800	Hypoplastic toenails	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001800	HP:0001800	Hypoplastic toenails	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001800	HP:0001800	Hypoplastic toenails	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0001800	HP:0001800	Hypoplastic toenails	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0001800	HP:0001800	Hypoplastic toenails	0	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6	HP:0040283 - Occasional	9
HP:0001800	HP:0001800	Hypoplastic toenails	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001800	HP:0001800	Hypoplastic toenails	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0001800	HP:0001800	Hypoplastic toenails	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001800	HP:0001800	Hypoplastic toenails	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040282 - Frequent	3
HP:0001800	HP:0001800	Hypoplastic toenails	0	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair	.	3
HP:0001800	HP:0001800	Hypoplastic toenails	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	7
HP:0001800	HP:0001800	Hypoplastic toenails	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	4
HP:0001800	HP:0001800	Hypoplastic toenails	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001800	HP:0001800	Hypoplastic toenails	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0001800	HP:0001800	Hypoplastic toenails	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0001800	HP:0001800	Hypoplastic toenails	0	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4	.	4
HP:0001800	HP:0001800	Hypoplastic toenails	0	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040281 - Very frequent	209
HP:0001800	HP:0001800	Hypoplastic toenails	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	209
HP:0001800	HP:0001800	Hypoplastic toenails	0	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040281 - Very frequent	137
HP:0001800	HP:0001800	Hypoplastic toenails	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	137
HP:0001800	HP:0001800	Hypoplastic toenails	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	81
HP:0001800	HP:0001800	Hypoplastic toenails	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.	172
HP:0001800	HP:0001800	Hypoplastic toenails	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001800	HP:0001800	Hypoplastic toenails	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0001800	HP:0001800	Hypoplastic toenails	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	1
HP:0001800	HP:0001800	Hypoplastic toenails	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001800	HP:0001800	Hypoplastic toenails	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001800	HP:0001800	Hypoplastic toenails	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001800	HP:0001800	Hypoplastic toenails	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0001800	HP:0001800	Hypoplastic toenails	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040282 - Frequent	113
HP:0001800	HP:0001800	Hypoplastic toenails	0	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia	HP:0040282 - Frequent	18
HP:0001800	HP:0001800	Hypoplastic toenails	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0001800	HP:0001800	Hypoplastic toenails	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0001800	HP:0001800	Hypoplastic toenails	0	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation		173
HP:0001800	HP:0001800	Hypoplastic toenails	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	88
HP:0001800	HP:0001800	Hypoplastic toenails	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001800	HP:0001800	Hypoplastic toenails	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001800	HP:0001800	Hypoplastic toenails	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001800	HP:0001800	Hypoplastic toenails	0	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome	HP:0040281 - Very frequent	12
HP:0001800	HP:0001800	Hypoplastic toenails	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0001800	HP:0001800	Hypoplastic toenails	0	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1	.	7
HP:0001800	HP:0001800	Hypoplastic toenails	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0001800	HP:0001800	Hypoplastic toenails	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	544
HP:0001800	HP:0001800	Hypoplastic toenails	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	84
HP:0001800	HP:0001800	Hypoplastic toenails	0	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:0001800	HP:0001800	Hypoplastic toenails	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001800	HP:0001800	Hypoplastic toenails	0	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040283 - Occasional	9
HP:0001800	HP:0001800	Hypoplastic toenails	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome		10
HP:0001800	HP:0001800	Hypoplastic toenails	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	2
HP:0001800	HP:0001800	Hypoplastic toenails	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	2
HP:0001800	HP:0001800	Hypoplastic toenails	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001800	HP:0001800	Hypoplastic toenails	0	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome	HP:0040281 - Very frequent	69
HP:0001800	HP:0001800	Hypoplastic toenails	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0001800	HP:0001800	Hypoplastic toenails	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0001800	HP:0001800	Hypoplastic toenails	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040281 - Very frequent	53
HP:0001800	HP:0001800	Hypoplastic toenails	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0001800	HP:0001800	Hypoplastic toenails	0	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040283 - Occasional	74
HP:0001800	HP:0001800	Hypoplastic toenails	0	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia	HP:0040282 - Frequent	9
HP:0001800	HP:0001800	Hypoplastic toenails	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0001800	HP:0001800	Hypoplastic toenails	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0001800	HP:0001800	Hypoplastic toenails	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0001800	HP:0001800	Hypoplastic toenails	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0001800	HP:0001800	Hypoplastic toenails	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0001800	HP:0001800	Hypoplastic toenails	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0001800	HP:0001800	Hypoplastic toenails	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0001800	HP:0001800	Hypoplastic toenails	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0001800	HP:0001800	Hypoplastic toenails	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0001800	HP:0001800	Hypoplastic toenails	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001800	HP:0001800	Hypoplastic toenails	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	1
HP:0001800	HP:0001800	Hypoplastic toenails	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0001800	HP:0001800	Hypoplastic toenails	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001800	HP:0001800	Hypoplastic toenails	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040283 - Occasional	100
HP:0001800	HP:0001800	Hypoplastic toenails	0	TBX4 CL E G H	9496	11603	ORPHA:238578	Familial clubfoot due to 17q23.1q23.2 microduplication	HP:0040283 - Occasional	55
HP:0001800	HP:0001800	Hypoplastic toenails	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040283 - Occasional	31
HP:0001800	HP:0001800	Hypoplastic toenails	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional	12
HP:0001800	HP:0001800	Hypoplastic toenails	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001800	HP:0001800	Hypoplastic toenails	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001800	HP:0001800	Hypoplastic toenails	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0001800	HP:0001800	Hypoplastic toenails	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0001800	HP:0001800	Hypoplastic toenails	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0001800	HP:0011937	Hypoplastic fifth toenail	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	88
HP:0001800	HP:0011937	Hypoplastic fifth toenail	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	219
HP:0001800	HP:0011937	Hypoplastic fifth toenail	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	25
HP:0001800	HP:0011937	Hypoplastic fifth toenail	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0001800	HP:0011937	Hypoplastic fifth toenail	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0001800	HP:0011937	Hypoplastic fifth toenail	1	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040282 - Frequent	11
HP:0001800	HP:0011937	Hypoplastic fifth toenail	1	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation		173
HP:0001800	HP:0011937	Hypoplastic fifth toenail	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare	10
HP:0001800	HP:0011937	Hypoplastic fifth toenail	1	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0001800	HP:0011937	Hypoplastic fifth toenail	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	617
HP:0001800	HP:0011937	Hypoplastic fifth toenail	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	87
HP:0001800	HP:0011937	Hypoplastic fifth toenail	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	1
HP:0001800	HP:0011937	Hypoplastic fifth toenail	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0001800	HP:0011937	Hypoplastic fifth toenail	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	47
HP:0001800	HP:0011937	Hypoplastic fifth toenail	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	14
HP:0001800	HP:0011937	Hypoplastic fifth toenail	1	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.	14
HP:0001800	HP:0011937	Hypoplastic fifth toenail	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent

Genes (79) :AFF4 ARID1A ARID1B ARID2 ATP6V1B2 BAZ1B BCL7B BUD23 CLIP2 COL11A1 CPT2 DLL4 DNAJC30 DPF2 DPH1 DYNC2LI1 EED EIF4H EIF5A ELN EOGT EVC EVC2 EZH2 FGFR1 FKBP6 FTO GLI1 GTF2I GTF2IRD1 GTF2IRD2 HOXA13 HRAS INPPL1 KDM1A KRT5 LIG4 LIMK1 METTL27 MLXIPL MSX1 NCF1 NECTIN4 NOTCH1 NSD1 NSUN2 ODC1 PIGF PPP1CB PPP2R5D PRKACA PRKACB RFC2 RIPK4 SCO2 SET SHANK3 SHOC2 SLC35D1 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4 STX1A SUZ12 TBC1D24 TBL2 TBX3 TBX4 TCTN3 TELO2 TMEM270 VPS37D WLS ZIC3 ZMYM2

Diseases (46) :ORPHA:444077 ORPHA:1465 ORPHA:79499 ORPHA:904 OMIM:228520 OMIM:608836 OMIM:616589 OMIM:618027 ORPHA:459061 OMIM:616901 ORPHA:289 ORPHA:3447 OMIM:619376 OMIM:615297 ORPHA:952 OMIM:166250 OMIM:612938 ORPHA:2438 ORPHA:3071 ORPHA:3144 OMIM:616728 ORPHA:477993 OMIM:131960 ORPHA:235 ORPHA:2228 OMIM:613573 OMIM:616028 ORPHA:544488 OMIM:619356 ORPHA:2701 ORPHA:457279 ORPHA:1234 OMIM:604377 OMIM:618106 ORPHA:48652 OMIM:606232 OMIM:616938 OMIM:615866 OMIM:220500 ORPHA:3138 ORPHA:238578 ORPHA:2753 ORPHA:488642 OMIM:619648 OMIM:306955 OMIM:619522

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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