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
..Small nail (HP:0001792)

Term ID:

1792

Name:

Small nail

Synonym:

Hypoplastic nail; Hypoplastic nails; Nail hypoplasia; Small nail; Small nails

Definition:

A nail that is diminished in length and width, i.e., underdeveloped nail.

Comments:

Reference:

HP:0001792

Genes and Diseases:

Child Nodes:

........

Hypoplastic toenails (HP:0001800)

................... HP:0011937 Hypoplastic fifth toenail

........

Hypoplastic fingernail (HP:0001804)

................... HP:0008398 Hypoplastic fifth fingernail
................... HP:0012553 Hypoplastic thumbnail

Sister Nodes:

Anonychia (HP:0001798)

Aplastic/hypoplastic toenail (HP:0010624)

Short nail (HP:0001799)

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:0001792	HP:0001792	Small nail	0	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects	.	2
HP:0001792	HP:0001792	Small nail	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.	72
HP:0001792	HP:0001792	Small nail	0	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:0001792	HP:0001792	Small nail	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional	68
HP:0001792	HP:0001792	Small nail	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.	37
HP:0001792	HP:0001792	Small nail	0	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	HP:0040283 - Occasional	75
HP:0001792	HP:0001792	Small nail	0	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	HP:0040283 - Occasional	63
HP:0001792	HP:0001792	Small nail	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0001792	HP:0001792	Small nail	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome		147
HP:0001792	HP:0001792	Small nail	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.	147
HP:0001792	HP:0001792	Small nail	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent	88
HP:0001792	HP:0001792	Small nail	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2	.	88
HP:0001792	HP:0001792	Small nail	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent	219
HP:0001792	HP:0001792	Small nail	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0001792	HP:0001792	Small nail	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent	25
HP:0001792	HP:0001792	Small nail	0	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome		5
HP:0001792	HP:0001792	Small nail	0	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant	.	5
HP:0001792	HP:0001792	Small nail	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome		5
HP:0001792	HP:0001792	Small nail	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0001792	HP:0001792	Small nail	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0001792	HP:0001792	Small nail	0	BHLHA9 CL E G H	727857	35126	OMIM:607539	Camptosynpolydactyly, complex	.	4
HP:0001792	HP:0001792	Small nail	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0001792	HP:0001792	Small nail	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS		78
HP:0001792	HP:0001792	Small nail	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0001792	HP:0001792	Small nail	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0001792	HP:0001792	Small nail	0	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1	.	1003
HP:0001792	HP:0001792	Small nail	0	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib	HP:0040283 - Occasional
HP:0001792	HP:0001792	Small nail	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation		114
HP:0001792	HP:0001792	Small nail	0	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0001792	HP:0001792	Small nail	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040282 - Frequent	7
HP:0001792	HP:0001792	Small nail	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0001792	HP:0001792	Small nail	0	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis		215
HP:0001792	HP:0001792	Small nail	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1		215
HP:0001792	HP:0001792	Small nail	0	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis		222
HP:0001792	HP:0001792	Small nail	0	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form	HP:0040283 - Occasional	263
HP:0001792	HP:0001792	Small nail	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0001792	HP:0001792	Small nail	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional	4
HP:0001792	HP:0001792	Small nail	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0001792	HP:0001792	Small nail	0	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC		2
HP:0001792	HP:0001792	Small nail	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0001792	HP:0001792	Small nail	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome		9
HP:0001792	HP:0001792	Small nail	0	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6		9
HP:0001792	HP:0001792	Small nail	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.	5
HP:0001792	HP:0001792	Small nail	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0001792	HP:0001792	Small nail	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome		18
HP:0001792	HP:0001792	Small nail	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	.	18
HP:0001792	HP:0001792	Small nail	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent
HP:0001792	HP:0001792	Small nail	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001792	HP:0001792	Small nail	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0001792	HP:0001792	Small nail	0	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair		3
HP:0001792	HP:0001792	Small nail	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome		7
HP:0001792	HP:0001792	Small nail	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome	.	4
HP:0001792	HP:0001792	Small nail	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome		4
HP:0001792	HP:0001792	Small nail	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0001792	HP:0001792	Small nail	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0001792	HP:0001792	Small nail	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0001792	HP:0001792	Small nail	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0001792	HP:0001792	Small nail	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome		4
HP:0001792	HP:0001792	Small nail	0	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0001792	HP:0001792	Small nail	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.	106
HP:0001792	HP:0001792	Small nail	0	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040281 - Very frequent	209
HP:0001792	HP:0001792	Small nail	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome		209
HP:0001792	HP:0001792	Small nail	0	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis	.	209
HP:0001792	HP:0001792	Small nail	0	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040281 - Very frequent	137
HP:0001792	HP:0001792	Small nail	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome		137
HP:0001792	HP:0001792	Small nail	0	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis	.	137
HP:0001792	HP:0001792	Small nail	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome		81
HP:0001792	HP:0001792	Small nail	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0001792	HP:0001792	Small nail	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia		172
HP:0001792	HP:0001792	Small nail	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome	.	175
HP:0001792	HP:0001792	Small nail	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0001792	HP:0001792	Small nail	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0001792	HP:0001792	Small nail	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.	70
HP:0001792	HP:0001792	Small nail	0	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly		52
HP:0001792	HP:0001792	Small nail	0	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.	56
HP:0001792	HP:0001792	Small nail	0	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia		56
HP:0001792	HP:0001792	Small nail	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome		1
HP:0001792	HP:0001792	Small nail	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent	73
HP:0001792	HP:0001792	Small nail	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0001792	HP:0001792	Small nail	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0001792	HP:0001792	Small nail	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0001792	HP:0001792	Small nail	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0001792	HP:0001792	Small nail	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0001792	HP:0001792	Small nail	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation		2
HP:0001792	HP:0001792	Small nail	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0001792	HP:0001792	Small nail	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome		113
HP:0001792	HP:0001792	Small nail	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0001792	HP:0001792	Small nail	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0001792	HP:0001792	Small nail	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation		9
HP:0001792	HP:0001792	Small nail	0	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia	HP:0040282 - Frequent	44
HP:0001792	HP:0001792	Small nail	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0001792	HP:0001792	Small nail	0	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia		18
HP:0001792	HP:0001792	Small nail	0	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome		13
HP:0001792	HP:0001792	Small nail	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome		13
HP:0001792	HP:0001792	Small nail	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome		13
HP:0001792	HP:0001792	Small nail	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.	13
HP:0001792	HP:0001792	Small nail	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome		7
HP:0001792	HP:0001792	Small nail	0	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0001792	HP:0001792	Small nail	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0001792	HP:0001792	Small nail	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome		3
HP:0001792	HP:0001792	Small nail	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040282 - Frequent
HP:0001792	HP:0001792	Small nail	0	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation		173
HP:0001792	HP:0001792	Small nail	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0001792	HP:0001792	Small nail	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0001792	HP:0001792	Small nail	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome		22
HP:0001792	HP:0001792	Small nail	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent	3
HP:0001792	HP:0001792	Small nail	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0001792	HP:0001792	Small nail	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0001792	HP:0001792	Small nail	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0001792	HP:0001792	Small nail	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0001792	HP:0001792	Small nail	0	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	.	9
HP:0001792	HP:0001792	Small nail	0	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome		12
HP:0001792	HP:0001792	Small nail	0	MSX1 CL E G H	4487	7391	OMIM:189500	Witkop syndrome	.	12
HP:0001792	HP:0001792	Small nail	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0001792	HP:0001792	Small nail	0	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1	.	7
HP:0001792	HP:0001792	Small nail	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0001792	HP:0001792	Small nail	0	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.	27
HP:0001792	HP:0001792	Small nail	0	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.	17
HP:0001792	HP:0001792	Small nail	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome		452
HP:0001792	HP:0001792	Small nail	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0001792	HP:0001792	Small nail	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0001792	HP:0001792	Small nail	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0001792	HP:0001792	Small nail	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome		544
HP:0001792	HP:0001792	Small nail	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0001792	HP:0001792	Small nail	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0001792	HP:0001792	Small nail	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0001792	HP:0001792	Small nail	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040282 - Frequent	1
HP:0001792	HP:0001792	Small nail	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0001792	HP:0001792	Small nail	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001792	HP:0001792	Small nail	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0001792	HP:0001792	Small nail	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	20
HP:0001792	HP:0001792	Small nail	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0001792	HP:0001792	Small nail	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0001792	HP:0001792	Small nail	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001792	HP:0001792	Small nail	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	36
HP:0001792	HP:0001792	Small nail	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0001792	HP:0001792	Small nail	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0001792	HP:0001792	Small nail	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0001792	HP:0001792	Small nail	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	84
HP:0001792	HP:0001792	Small nail	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0001792	HP:0001792	Small nail	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	57
HP:0001792	HP:0001792	Small nail	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	6
HP:0001792	HP:0001792	Small nail	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0001792	HP:0001792	Small nail	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation		3
HP:0001792	HP:0001792	Small nail	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0001792	HP:0001792	Small nail	0	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:0001792	HP:0001792	Small nail	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	.	10
HP:0001792	HP:0001792	Small nail	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0001792	HP:0001792	Small nail	0	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	HP:0040283 - Occasional	6
HP:0001792	HP:0001792	Small nail	0	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	.	22
HP:0001792	HP:0001792	Small nail	0	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		9
HP:0001792	HP:0001792	Small nail	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome		10
HP:0001792	HP:0001792	Small nail	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0001792	HP:0001792	Small nail	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0001792	HP:0001792	Small nail	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0001792	HP:0001792	Small nail	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism		6
HP:0001792	HP:0001792	Small nail	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0001792	HP:0001792	Small nail	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome		3
HP:0001792	HP:0001792	Small nail	0	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3		3
HP:0001792	HP:0001792	Small nail	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0001792	HP:0001792	Small nail	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0001792	HP:0001792	Small nail	0	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome		69
HP:0001792	HP:0001792	Small nail	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0001792	HP:0001792	Small nail	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.	7
HP:0001792	HP:0001792	Small nail	0	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1		120
HP:0001792	HP:0001792	Small nail	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0001792	HP:0001792	Small nail	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome		65
HP:0001792	HP:0001792	Small nail	0	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal	.	3
HP:0001792	HP:0001792	Small nail	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0001792	HP:0001792	Small nail	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0001792	HP:0001792	Small nail	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0001792	HP:0001792	Small nail	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0001792	HP:0001792	Small nail	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3		53
HP:0001792	HP:0001792	Small nail	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0001792	HP:0001792	Small nail	0	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		74
HP:0001792	HP:0001792	Small nail	0	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis		66
HP:0001792	HP:0001792	Small nail	0	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0001792	HP:0001792	Small nail	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0001792	HP:0001792	Small nail	0	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia		9
HP:0001792	HP:0001792	Small nail	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent	617
HP:0001792	HP:0001792	Small nail	0	SMARCAD1 CL E G H	56916	18398	ORPHA:384	Huriez syndrome	HP:0040281 - Very frequent	6
HP:0001792	HP:0001792	Small nail	0	SMARCAD1 CL E G H	56916	18398	OMIM:181600	Huriez syndrome	.	6
HP:0001792	HP:0001792	Small nail	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent	87
HP:0001792	HP:0001792	Small nail	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent	1
HP:0001792	HP:0001792	Small nail	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent
HP:0001792	HP:0001792	Small nail	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent	47
HP:0001792	HP:0001792	Small nail	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0001792	HP:0001792	Small nail	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent	14
HP:0001792	HP:0001792	Small nail	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.	14
HP:0001792	HP:0001792	Small nail	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent
HP:0001792	HP:0001792	Small nail	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0001792	HP:0001792	Small nail	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.	24
HP:0001792	HP:0001792	Small nail	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0001792	HP:0001792	Small nail	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome		1
HP:0001792	HP:0001792	Small nail	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0001792	HP:0001792	Small nail	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0001792	HP:0001792	Small nail	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome		100
HP:0001792	HP:0001792	Small nail	0	TBX4 CL E G H	9496	11603	ORPHA:238578	Familial clubfoot due to 17q23.1q23.2 microduplication		55
HP:0001792	HP:0001792	Small nail	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0001792	HP:0001792	Small nail	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder		12
HP:0001792	HP:0001792	Small nail	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0001792	HP:0001792	Small nail	0	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0001792	HP:0001792	Small nail	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0001792	HP:0001792	Small nail	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.	140
HP:0001792	HP:0001792	Small nail	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0001792	HP:0001792	Small nail	0	TSPAN7 CL E G H	7102	11854	OMIM:300210	MENTAL RETARDATION, X-LINKED 58; MRX58		26
HP:0001792	HP:0001792	Small nail	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0001792	HP:0001792	Small nail	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0001792	HP:0001792	Small nail	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0001792	HP:0001792	Small nail	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.	14
HP:0001792	HP:0001792	Small nail	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0001792	HP:0001792	Small nail	0	WNT10A CL E G H	80326	13829	OMIM:224750	Schopf-Schulz-Passarge syndrome	.	71
HP:0001792	HP:0001792	Small nail	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0001792	HP:0001792	Small nail	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0001792	HP:0001792	Small nail	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0001792	HP:0001800	Hypoplastic toenails	1	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:0001792	HP:0001804	Hypoplastic fingernail	1	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	147
HP:0001792	HP:0001804	Hypoplastic fingernail	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0001792	HP:0001800	Hypoplastic toenails	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0001792	HP:0001804	Hypoplastic fingernail	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0001792	HP:0001800	Hypoplastic toenails	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0001792	HP:0001804	Hypoplastic fingernail	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0001792	HP:0001800	Hypoplastic toenails	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0001792	HP:0001804	Hypoplastic fingernail	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0001792	HP:0001800	Hypoplastic toenails	1	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome	HP:0040283 - Occasional	5
HP:0001792	HP:0001804	Hypoplastic fingernail	1	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent	5
HP:0001792	HP:0001800	Hypoplastic toenails	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001792	HP:0001800	Hypoplastic toenails	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001792	HP:0001804	Hypoplastic fingernail	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78
HP:0001792	HP:0001800	Hypoplastic toenails	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001792	HP:0001804	Hypoplastic fingernail	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional	33
HP:0001792	HP:0001804	Hypoplastic fingernail	1	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	114
HP:0001792	HP:0001804	Hypoplastic fingernail	1	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0001792	HP:0001800	Hypoplastic toenails	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001792	HP:0001804	Hypoplastic fingernail	1	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent	215
HP:0001792	HP:0001800	Hypoplastic toenails	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0001792	HP:0001804	Hypoplastic fingernail	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0001792	HP:0001804	Hypoplastic fingernail	1	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent	222
HP:0001792	HP:0001800	Hypoplastic toenails	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0001792	HP:0001804	Hypoplastic fingernail	1	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	9
HP:0001792	HP:0001800	Hypoplastic toenails	1	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6	HP:0040283 - Occasional	9
HP:0001792	HP:0001800	Hypoplastic toenails	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001792	HP:0001804	Hypoplastic fingernail	1	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	18
HP:0001792	HP:0001804	Hypoplastic fingernail	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0001792	HP:0001800	Hypoplastic toenails	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0001792	HP:0001800	Hypoplastic toenails	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001792	HP:0001800	Hypoplastic toenails	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040282 - Frequent	3
HP:0001792	HP:0001800	Hypoplastic toenails	1	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair	.	3
HP:0001792	HP:0001800	Hypoplastic toenails	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	7
HP:0001792	HP:0001800	Hypoplastic toenails	1	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	4
HP:0001792	HP:0001800	Hypoplastic toenails	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001792	HP:0001800	Hypoplastic toenails	1	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0001792	HP:0001800	Hypoplastic toenails	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0001792	HP:0001804	Hypoplastic fingernail	1	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	4
HP:0001792	HP:0001800	Hypoplastic toenails	1	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4	.	4
HP:0001792	HP:0001800	Hypoplastic toenails	1	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040281 - Very frequent	209
HP:0001792	HP:0001800	Hypoplastic toenails	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	209
HP:0001792	HP:0001800	Hypoplastic toenails	1	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040281 - Very frequent	137
HP:0001792	HP:0001800	Hypoplastic toenails	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	137
HP:0001792	HP:0001800	Hypoplastic toenails	1	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	81
HP:0001792	HP:0001804	Hypoplastic fingernail	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0001792	HP:0001800	Hypoplastic toenails	1	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.	172
HP:0001792	HP:0001804	Hypoplastic fingernail	1	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0001792	HP:0001800	Hypoplastic toenails	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001792	HP:0001800	Hypoplastic toenails	1	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0001792	HP:0001800	Hypoplastic toenails	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	1
HP:0001792	HP:0001800	Hypoplastic toenails	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001792	HP:0001800	Hypoplastic toenails	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001792	HP:0001800	Hypoplastic toenails	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001792	HP:0001804	Hypoplastic fingernail	1	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	2
HP:0001792	HP:0001800	Hypoplastic toenails	1	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0001792	HP:0001800	Hypoplastic toenails	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040282 - Frequent	113
HP:0001792	HP:0001804	Hypoplastic fingernail	1	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0001792	HP:0001804	Hypoplastic fingernail	1	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	9
HP:0001792	HP:0001804	Hypoplastic fingernail	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040281 - Very frequent	52
HP:0001792	HP:0001800	Hypoplastic toenails	1	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia	HP:0040282 - Frequent	18
HP:0001792	HP:0001804	Hypoplastic fingernail	1	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome		13
HP:0001792	HP:0001804	Hypoplastic fingernail	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional	13
HP:0001792	HP:0001804	Hypoplastic fingernail	1	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent	13
HP:0001792	HP:0001804	Hypoplastic fingernail	1	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent	7
HP:0001792	HP:0001800	Hypoplastic toenails	1	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0001792	HP:0001800	Hypoplastic toenails	1	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0001792	HP:0001800	Hypoplastic toenails	1	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation		173
HP:0001792	HP:0001800	Hypoplastic toenails	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	88
HP:0001792	HP:0001800	Hypoplastic toenails	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001792	HP:0001804	Hypoplastic fingernail	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent	22
HP:0001792	HP:0001800	Hypoplastic toenails	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001792	HP:0001800	Hypoplastic toenails	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001792	HP:0001804	Hypoplastic fingernail	1	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome	HP:0040281 - Very frequent	12
HP:0001792	HP:0001800	Hypoplastic toenails	1	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome	HP:0040281 - Very frequent	12
HP:0001792	HP:0001800	Hypoplastic toenails	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0001792	HP:0001800	Hypoplastic toenails	1	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1	.	7
HP:0001792	HP:0001804	Hypoplastic fingernail	1	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	452
HP:0001792	HP:0001800	Hypoplastic toenails	1	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0001792	HP:0001800	Hypoplastic toenails	1	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	544
HP:0001792	HP:0001800	Hypoplastic toenails	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	84
HP:0001792	HP:0001800	Hypoplastic toenails	1	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:0001792	HP:0001804	Hypoplastic fingernail	1	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001792	HP:0001800	Hypoplastic toenails	1	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001792	HP:0001804	Hypoplastic fingernail	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040281 - Very frequent	37
HP:0001792	HP:0001804	Hypoplastic fingernail	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0001792	HP:0001804	Hypoplastic fingernail	1	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0001792	HP:0001804	Hypoplastic fingernail	1	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	3
HP:0001792	HP:0001804	Hypoplastic fingernail	1	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0001792	HP:0001804	Hypoplastic fingernail	1	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy	HP:0040281 - Very frequent	759
HP:0001792	HP:0001800	Hypoplastic toenails	1	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040283 - Occasional	9
HP:0001792	HP:0001800	Hypoplastic toenails	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome		10
HP:0001792	HP:0001800	Hypoplastic toenails	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	2
HP:0001792	HP:0001800	Hypoplastic toenails	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	2
HP:0001792	HP:0001804	Hypoplastic fingernail	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040283 - Occasional	6
HP:0001792	HP:0001804	Hypoplastic fingernail	1	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	3
HP:0001792	HP:0001804	Hypoplastic fingernail	1	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3		3
HP:0001792	HP:0001800	Hypoplastic toenails	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001792	HP:0001800	Hypoplastic toenails	1	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome	HP:0040281 - Very frequent	69
HP:0001792	HP:0001804	Hypoplastic fingernail	1	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1		120
HP:0001792	HP:0001804	Hypoplastic fingernail	1	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040282 - Frequent	65
HP:0001792	HP:0001800	Hypoplastic toenails	1	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0001792	HP:0001800	Hypoplastic toenails	1	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0001792	HP:0001800	Hypoplastic toenails	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040281 - Very frequent	53
HP:0001792	HP:0001800	Hypoplastic toenails	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0001792	HP:0001800	Hypoplastic toenails	1	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040283 - Occasional	74
HP:0001792	HP:0001804	Hypoplastic fingernail	1	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent	66
HP:0001792	HP:0001800	Hypoplastic toenails	1	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia	HP:0040282 - Frequent	9
HP:0001792	HP:0001804	Hypoplastic fingernail	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0001792	HP:0001800	Hypoplastic toenails	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0001792	HP:0001804	Hypoplastic fingernail	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0001792	HP:0001800	Hypoplastic toenails	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0001792	HP:0001800	Hypoplastic toenails	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0001792	HP:0001804	Hypoplastic fingernail	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0001792	HP:0001800	Hypoplastic toenails	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0001792	HP:0001804	Hypoplastic fingernail	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0001792	HP:0001800	Hypoplastic toenails	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0001792	HP:0001804	Hypoplastic fingernail	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0001792	HP:0001800	Hypoplastic toenails	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0001792	HP:0001800	Hypoplastic toenails	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0001792	HP:0001804	Hypoplastic fingernail	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0001792	HP:0001800	Hypoplastic toenails	1	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0001792	HP:0001804	Hypoplastic fingernail	1	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0001792	HP:0001804	Hypoplastic fingernail	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0001792	HP:0001800	Hypoplastic toenails	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0001792	HP:0001800	Hypoplastic toenails	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001792	HP:0001800	Hypoplastic toenails	1	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	1
HP:0001792	HP:0001800	Hypoplastic toenails	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0001792	HP:0001804	Hypoplastic fingernail	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0001792	HP:0001800	Hypoplastic toenails	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001792	HP:0001800	Hypoplastic toenails	1	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040283 - Occasional	100
HP:0001792	HP:0001800	Hypoplastic toenails	1	TBX4 CL E G H	9496	11603	ORPHA:238578	Familial clubfoot due to 17q23.1q23.2 microduplication	HP:0040283 - Occasional	55
HP:0001792	HP:0001800	Hypoplastic toenails	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040283 - Occasional	31
HP:0001792	HP:0001800	Hypoplastic toenails	1	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional	12
HP:0001792	HP:0001804	Hypoplastic fingernail	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0001792	HP:0001800	Hypoplastic toenails	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001792	HP:0001804	Hypoplastic fingernail	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0001792	HP:0001800	Hypoplastic toenails	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001792	HP:0001804	Hypoplastic fingernail	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040283 - Occasional	83
HP:0001792	HP:0001800	Hypoplastic toenails	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0001792	HP:0001800	Hypoplastic toenails	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0001792	HP:0001800	Hypoplastic toenails	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0001792	HP:0001804	Hypoplastic fingernail	1	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0001792	HP:0008398	Hypoplastic fifth fingernail	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	88
HP:0001792	HP:0011937	Hypoplastic fifth toenail	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	88
HP:0001792	HP:0008398	Hypoplastic fifth fingernail	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	219
HP:0001792	HP:0011937	Hypoplastic fifth toenail	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	219
HP:0001792	HP:0008398	Hypoplastic fifth fingernail	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0001792	HP:0008398	Hypoplastic fifth fingernail	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	25
HP:0001792	HP:0011937	Hypoplastic fifth toenail	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	25
HP:0001792	HP:0008398	Hypoplastic fifth fingernail	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0001792	HP:0011937	Hypoplastic fifth toenail	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0001792	HP:0011937	Hypoplastic fifth toenail	2	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0001792	HP:0011937	Hypoplastic fifth toenail	2	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040282 - Frequent	11
HP:0001792	HP:0012553	Hypoplastic thumbnail	2	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome	.	13
HP:0001792	HP:0012553	Hypoplastic thumbnail	2	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional	13
HP:0001792	HP:0011937	Hypoplastic fifth toenail	2	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation		173
HP:0001792	HP:0008398	Hypoplastic fifth fingernail	2	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001792	HP:0012553	Hypoplastic thumbnail	2	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001792	HP:0011937	Hypoplastic fifth toenail	2	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare	10
HP:0001792	HP:0008398	Hypoplastic fifth fingernail	2	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3		3
HP:0001792	HP:0011937	Hypoplastic fifth toenail	2	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0001792	HP:0011937	Hypoplastic fifth toenail	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	617
HP:0001792	HP:0008398	Hypoplastic fifth fingernail	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	617
HP:0001792	HP:0008398	Hypoplastic fifth fingernail	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	87
HP:0001792	HP:0011937	Hypoplastic fifth toenail	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	87
HP:0001792	HP:0011937	Hypoplastic fifth toenail	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	1
HP:0001792	HP:0008398	Hypoplastic fifth fingernail	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	1
HP:0001792	HP:0011937	Hypoplastic fifth toenail	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0001792	HP:0008398	Hypoplastic fifth fingernail	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0001792	HP:0011937	Hypoplastic fifth toenail	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	47
HP:0001792	HP:0008398	Hypoplastic fifth fingernail	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	47
HP:0001792	HP:0008398	Hypoplastic fifth fingernail	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	14
HP:0001792	HP:0011937	Hypoplastic fifth toenail	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	14
HP:0001792	HP:0011937	Hypoplastic fifth toenail	2	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.	14
HP:0001792	HP:0008398	Hypoplastic fifth fingernail	2	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0001792	HP:0008398	Hypoplastic fifth fingernail	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0001792	HP:0011937	Hypoplastic fifth toenail	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent

Genes (175) :ACTL6B ADAMTSL2 AFF4 ALG12 ALG3 ALOX12B ALOXE3 APC2 ARHGAP31 ARID1A ARID1B ARID2 ATP6V1B2 BAZ1B BCL7B BHLHA9 BICRA BMPER BUD23 CCDC22 CDH1 CDIN1 CDKN1C CENPT CKAP2L CLIP2 COL11A1 COL11A2 COL7A1 CPT2 CWC27 DHX37 DLK1 DLL4 DNAJC21 DNAJC30 DOCK6 DPF2 DPH1 DYNC2LI1 EED EIF4H EIF5A ELN EOGT ERCC2 EVC EVC2 EZH2 FBXO28 FGFR1 FGFR2 FKBP6 FRAS1 FTO GDF5 GJB6 GLI1 GPC3 GPC4 GTF2I GTF2IRD1 GTF2IRD2 HEPHL1 HMGA2 HOXA13 HRAS HUWE1 HYMAI IGF2 IHH IKBKG INPPL1 KCNH1 KCNN3 KDM1A KIF15 KRT5 LIG4 LIMK1 MBTPS2 MCTP2 MEG3 METTL27 MLXIPL MPLKIP MSX1 NCF1 NECTIN4 NEPRO NHP2 NOP10 NOTCH1 NSD1 NSDHL NSUN2 ODC1 OFD1 OTUD5 PGAP2 PGAP3 PIGA PIGB PIGF PIGL PIGN PIGO PIGV PIGW PIGY PLAG1 PLAGL1 PLEC POC1A POLR3A POP1 PPM1D PPP1CB PPP2R5D PRKACA PRKACB PRR12 PTDSS1 RAF1 RBPJ RERE RFC2 RIPK4 RLIM ROR2 RPS6KA3 RSPO1 RTL1 SCO2 SET SETD2 SHANK3 SHOC2 SHOX SIAH1 SLC25A24 SLC35D1 SMARCA4 SMARCAD1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4 SPEN STAMBP STX1A SUZ12 TBC1D24 TBL2 TBX3 TBX4 TCTN3 TELO2 TFAP2A TMEM222 TMEM270 TP63 TRRAP TSPAN7 TWIST2 VPS37D WASHC5 WDR73 WLS WNT10A ZIC3 ZMYM2 ZNF462

Diseases (146) :OMIM:618470 OMIM:231050 ORPHA:444077 ORPHA:79324 OMIM:601110 OMIM:242100 ORPHA:821 ORPHA:974 OMIM:100300 ORPHA:1465 OMIM:614607 OMIM:135900 ORPHA:79499 OMIM:124480 ORPHA:3473 ORPHA:904 OMIM:607539 OMIM:619325 OMIM:608022 ORPHA:7 OMIM:119580 OMIM:615631 ORPHA:397590 OMIM:618702 ORPHA:3255 ORPHA:2021 OMIM:228520 ORPHA:79410 OMIM:608836 ORPHA:166035 OMIM:250410 OMIM:618731 ORPHA:96334 OMIM:616589 OMIM:617052 OMIM:614219 OMIM:618027 ORPHA:459061 OMIM:616901 ORPHA:289 OMIM:617561 ORPHA:3447 OMIM:619376 OMIM:194050 OMIM:615297 OMIM:601675 ORPHA:952 OMIM:193530 OMIM:619777 OMIM:166250 OMIM:123790 OMIM:219000 OMIM:612938 OMIM:228900 OMIM:129500 ORPHA:189 ORPHA:373 OMIM:261990 ORPHA:2438 ORPHA:3071 OMIM:309590 ORPHA:96191 ORPHA:63446 ORPHA:464 ORPHA:3144 OMIM:611816 ORPHA:420561 OMIM:135500 OMIM:618658 OMIM:616728 ORPHA:477993 ORPHA:261323 OMIM:131960 ORPHA:235 ORPHA:2273 ORPHA:1596 OMIM:234050 ORPHA:2228 OMIM:189500 OMIM:613573 OMIM:618853 OMIM:224230 OMIM:616028 OMIM:117550 OMIM:308050 OMIM:619075 ORPHA:544488 OMIM:300209 OMIM:301056 ORPHA:247262 OMIM:300868 OMIM:618580 OMIM:619356 ORPHA:2059 ORPHA:280633 OMIM:614749 OMIM:239300 ORPHA:257 OMIM:614813 OMIM:264090 OMIM:617396 OMIM:617450 ORPHA:2701 ORPHA:457279 OMIM:619539 ORPHA:2658 OMIM:611553 OMIM:614814 OMIM:616975 ORPHA:1234 OMIM:263650 OMIM:300978 OMIM:113000 OMIM:268310 ORPHA:192 OMIM:610644 OMIM:604377 OMIM:618106 ORPHA:48652 OMIM:606232 ORPHA:240 OMIM:619314 OMIM:612289 ORPHA:384 OMIM:181600 OMIM:616938 OMIM:615866 OMIM:619312 OMIM:614261 OMIM:220500 ORPHA:3138 ORPHA:238578 ORPHA:2753 ORPHA:488642 OMIM:113620 OMIM:619470 OMIM:129400 OMIM:618454 OMIM:300210 OMIM:200110 OMIM:251300 OMIM:619648 OMIM:224750 OMIM:306955 OMIM:619522 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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