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

Parent Node:
Abnormal fingernail morphology (HP:0001231)

Parent Node:
Small nail (HP:0001792)

..Starting node
..Hypoplastic fingernail (HP:0001804)

Term ID:

1804

Name:

Hypoplastic fingernail

Synonym:

Small fingernail; Underdeveloped fingernail

Definition:

Underdevelopment of a fingernail.

Comments:

Reference:

HP:0001804

Genes and Diseases:

Child Nodes:

........

Hypoplastic fifth fingernail (HP:0008398)

........

Hypoplastic thumbnail (HP:0012553)

Sister Nodes:

Hypoplastic toenails (HP:0001800)

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:0001804	HP:0001804	Hypoplastic fingernail	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	147
HP:0001804	HP:0001804	Hypoplastic fingernail	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0001804	HP:0001804	Hypoplastic fingernail	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0001804	HP:0001804	Hypoplastic fingernail	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0001804	HP:0001804	Hypoplastic fingernail	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0001804	HP:0001804	Hypoplastic fingernail	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent	5
HP:0001804	HP:0001804	Hypoplastic fingernail	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78
HP:0001804	HP:0001804	Hypoplastic fingernail	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional	33
HP:0001804	HP:0001804	Hypoplastic fingernail	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	114
HP:0001804	HP:0001804	Hypoplastic fingernail	0	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0001804	HP:0001804	Hypoplastic fingernail	0	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent	215
HP:0001804	HP:0001804	Hypoplastic fingernail	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0001804	HP:0001804	Hypoplastic fingernail	0	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent	222
HP:0001804	HP:0001804	Hypoplastic fingernail	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	9
HP:0001804	HP:0001804	Hypoplastic fingernail	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	18
HP:0001804	HP:0001804	Hypoplastic fingernail	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0001804	HP:0001804	Hypoplastic fingernail	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	4
HP:0001804	HP:0001804	Hypoplastic fingernail	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0001804	HP:0001804	Hypoplastic fingernail	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0001804	HP:0001804	Hypoplastic fingernail	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	2
HP:0001804	HP:0001804	Hypoplastic fingernail	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0001804	HP:0001804	Hypoplastic fingernail	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	9
HP:0001804	HP:0001804	Hypoplastic fingernail	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040281 - Very frequent	52
HP:0001804	HP:0001804	Hypoplastic fingernail	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional	13
HP:0001804	HP:0001804	Hypoplastic fingernail	0	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome		13
HP:0001804	HP:0001804	Hypoplastic fingernail	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent	13
HP:0001804	HP:0001804	Hypoplastic fingernail	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent	7
HP:0001804	HP:0001804	Hypoplastic fingernail	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent	22
HP:0001804	HP:0001804	Hypoplastic fingernail	0	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome	HP:0040281 - Very frequent	12
HP:0001804	HP:0001804	Hypoplastic fingernail	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	452
HP:0001804	HP:0001804	Hypoplastic fingernail	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001804	HP:0001804	Hypoplastic fingernail	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040281 - Very frequent	37
HP:0001804	HP:0001804	Hypoplastic fingernail	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0001804	HP:0001804	Hypoplastic fingernail	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0001804	HP:0001804	Hypoplastic fingernail	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	3
HP:0001804	HP:0001804	Hypoplastic fingernail	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0001804	HP:0001804	Hypoplastic fingernail	0	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy	HP:0040281 - Very frequent	759
HP:0001804	HP:0001804	Hypoplastic fingernail	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040283 - Occasional	6
HP:0001804	HP:0001804	Hypoplastic fingernail	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	3
HP:0001804	HP:0001804	Hypoplastic fingernail	0	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3		3
HP:0001804	HP:0001804	Hypoplastic fingernail	0	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1		120
HP:0001804	HP:0001804	Hypoplastic fingernail	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040282 - Frequent	65
HP:0001804	HP:0001804	Hypoplastic fingernail	0	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent	66
HP:0001804	HP:0001804	Hypoplastic fingernail	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0001804	HP:0001804	Hypoplastic fingernail	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0001804	HP:0001804	Hypoplastic fingernail	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0001804	HP:0001804	Hypoplastic fingernail	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0001804	HP:0001804	Hypoplastic fingernail	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0001804	HP:0001804	Hypoplastic fingernail	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0001804	HP:0001804	Hypoplastic fingernail	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0001804	HP:0001804	Hypoplastic fingernail	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0001804	HP:0001804	Hypoplastic fingernail	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0001804	HP:0001804	Hypoplastic fingernail	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0001804	HP:0001804	Hypoplastic fingernail	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0001804	HP:0001804	Hypoplastic fingernail	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040283 - Occasional	83
HP:0001804	HP:0001804	Hypoplastic fingernail	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0001804	HP:0008398	Hypoplastic fifth fingernail	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	88
HP:0001804	HP:0008398	Hypoplastic fifth fingernail	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	219
HP:0001804	HP:0008398	Hypoplastic fifth fingernail	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0001804	HP:0008398	Hypoplastic fifth fingernail	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	25
HP:0001804	HP:0008398	Hypoplastic fifth fingernail	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0001804	HP:0012553	Hypoplastic thumbnail	1	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome	.	13
HP:0001804	HP:0012553	Hypoplastic thumbnail	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional	13
HP:0001804	HP:0012553	Hypoplastic thumbnail	1	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001804	HP:0008398	Hypoplastic fifth fingernail	1	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001804	HP:0008398	Hypoplastic fifth fingernail	1	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3		3
HP:0001804	HP:0008398	Hypoplastic fifth fingernail	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	617
HP:0001804	HP:0008398	Hypoplastic fifth fingernail	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	87
HP:0001804	HP:0008398	Hypoplastic fifth fingernail	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	1
HP:0001804	HP:0008398	Hypoplastic fifth fingernail	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0001804	HP:0008398	Hypoplastic fifth fingernail	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	47
HP:0001804	HP:0008398	Hypoplastic fifth fingernail	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	14
HP:0001804	HP:0008398	Hypoplastic fifth fingernail	1	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0001804	HP:0008398	Hypoplastic fifth fingernail	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent

Genes (49) :ARHGAP31 ARID1A ARID1B ARID2 ATP6V1B2 BMPER CCDC22 CDKN1C CENPT COL11A1 COL11A2 DLL4 DOCK6 DPF2 EOGT FBXO28 FGFR2 HMGA2 HYMAI IGF2 IKBKG KCNH1 KCNN3 MBTPS2 MSX1 NOTCH1 PIGF PIGN PIGO PLAG1 PLAGL1 PLEC PTDSS1 RBPJ ROR2 RPS6KA3 SHOX SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4 TBC1D24 TFAP2A TWIST2 WASHC5 ZNF462

Diseases (33) :ORPHA:974 ORPHA:1465 OMIM:135900 ORPHA:3473 OMIM:608022 ORPHA:7 ORPHA:397590 OMIM:618702 ORPHA:2021 OMIM:228520 OMIM:619777 OMIM:123790 ORPHA:96191 ORPHA:464 ORPHA:420561 OMIM:611816 ORPHA:2273 ORPHA:2228 OMIM:619356 ORPHA:2059 ORPHA:280633 OMIM:614749 ORPHA:257 ORPHA:2658 OMIM:614814 OMIM:113000 ORPHA:192 ORPHA:240 OMIM:615866 OMIM:220500 OMIM:113620 OMIM:200110 OMIM:618619

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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