Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia		254
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		254
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva		49
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva		49
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome		75
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive		165
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		75
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		63
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome		3179
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome		147
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease		78
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	BHLHA9 CL E G H	727857	35126	ORPHA:157801	Mesoaxial synostotic syndactyly with phalangeal reduction		4
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	BHLHA9 CL E G H	727857	35126	OMIM:609432	Syndactyly, mesoaxial synostotic, with phalangeal reduction		4
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2		13
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies		13
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type		90
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	BMPR1B CL E G H	658	1077	ORPHA:93388	Brachydactyly type A1		90
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2		90
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	BPNT2 CL E G H	54928	26019	OMIM:614078	Chondrodysplasia with joint dislocations, Gpapp type
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome		13
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome		13
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome		515
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	CHST11 CL E G H	50515	17422	OMIM:618167	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits		1
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome		16
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type		284
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia		284
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome		94
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome		9
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6		9
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	DLX5 CL E G H	1749	2918	OMIM:183600	Split-Hand/foot malformation 1		3
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome		44
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome		18
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation		134
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome		4
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2		250
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome		172
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1		172
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome		175
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1		175
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2		175
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3		175
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia		145
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome		145
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome		8
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1		493
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia		493
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type		52
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	GDF5 CL E G H	8200	4220	ORPHA:93388	Brachydactyly type A1		52
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2		52
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly		52
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome		98
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	GJA1 CL E G H	2697	4274	ORPHA:93404	Syndactyly type 3		68
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia		270
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA		101
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type		3
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	GRIP1 CL E G H	23426	18708	OMIM:617667	Fraser syndrome 3		80
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		200
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		88
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome		33
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	HOXA13 CL E G H	3209	5102	OMIM:176305	Preaxial deficiency, postaxial polydactyly, and hypospadias		11
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	HOXD13 CL E G H	3239	5136	ORPHA:93387	Brachydactyly type E		25
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1		25
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	IHH CL E G H	3549	5956	ORPHA:93388	Brachydactyly type A1		44
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome		48
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome		94
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		23
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome		91
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome		88
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	LMNA CL E G H	4000	6636	ORPHA:2229	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome		645
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome		124
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome		2
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome		33
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1		35
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	NOG CL E G H	9241	7866	ORPHA:140908	Brachydactyly type B2		22
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2		22
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome		452
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type		53
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I		201
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1		201
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis		113
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance		113
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome		113
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome		29
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome		29
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis		134
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance		134
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome		58
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	PTHLH CL E G H	5744	9607	ORPHA:93387	Brachydactyly type E		6
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome		127
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome		50
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome		3
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3		3
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome		69
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia		37
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome		37
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1		120
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4		166
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome		504
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies		15
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome		6
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome		22
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome		28
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	TNNT3 CL E G H	7140	11950	OMIM:618435	Arthrogryposis, distal, type 2B2		43
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	TRPV4 CL E G H	59341	18083	OMIM:606835	Digital arthropathy-brachydactyly, familial		214
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	TRPV4 CL E G H	59341	18083	ORPHA:85169	Familial digital arthropathy-brachydactyly		214
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	WNT10B CL E G H	7480	12775	OMIM:225300	SPLIT-HAND/FOOT MALFORMATION 6; SHFM6		4
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly		13
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type		13
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0001991	HP:0001991	Aplasia/Hypoplasia of toe	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0001991	HP:0030031	Small toe	1	CL E G H
HP:0001991	HP:0001831	Short toe	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia		254
HP:0001991	HP:0010760	Absent toe	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia		254
HP:0001991	HP:0010760	Absent toe	1	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		254
HP:0001991	HP:0001831	Short toe	1	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		254
HP:0001991	HP:0010760	Absent toe	1	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva		49
HP:0001991	HP:0001831	Short toe	1	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva		49
HP:0001991	HP:0001831	Short toe	1	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva		49
HP:0001991	HP:0010760	Absent toe	1	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva		49
HP:0001991	HP:0001831	Short toe	1	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional	75
HP:0001991	HP:0001831	Short toe	1	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0001991	HP:0001831	Short toe	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0001991	HP:0001831	Short toe	1	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	HP:0040283 - Occasional	75
HP:0001991	HP:0001831	Short toe	1	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	HP:0040283 - Occasional	63
HP:0001991	HP:0010760	Absent toe	1	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome		3179
HP:0001991	HP:0010760	Absent toe	1	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	147
HP:0001991	HP:0010760	Absent toe	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0001991	HP:0010760	Absent toe	1	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0001991	HP:0001831	Short toe	1	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0001991	HP:0001831	Short toe	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040284 - Very rare	78
HP:0001991	HP:0001831	Short toe	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0001991	HP:0001831	Short toe	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040281 - Very frequent	36
HP:0001991	HP:0001831	Short toe	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0001991	HP:0001831	Short toe	1	BHLHA9 CL E G H	727857	35126	ORPHA:157801	Mesoaxial synostotic syndactyly with phalangeal reduction		4
HP:0001991	HP:0010760	Absent toe	1	BHLHA9 CL E G H	727857	35126	ORPHA:157801	Mesoaxial synostotic syndactyly with phalangeal reduction		4
HP:0001991	HP:0010760	Absent toe	1	BHLHA9 CL E G H	727857	35126	OMIM:609432	Syndactyly, mesoaxial synostotic, with phalangeal reduction		4
HP:0001991	HP:0010760	Absent toe	1	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2		13
HP:0001991	HP:0001831	Short toe	1	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2		13
HP:0001991	HP:0001831	Short toe	1	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.	13
HP:0001991	HP:0001831	Short toe	1	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type	.	90
HP:0001991	HP:0001831	Short toe	1	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040281 - Very frequent	90
HP:0001991	HP:0001831	Short toe	1	BMPR1B CL E G H	658	1077	ORPHA:93388	Brachydactyly type A1		90
HP:0001991	HP:0010760	Absent toe	1	BMPR1B CL E G H	658	1077	ORPHA:93388	Brachydactyly type A1		90
HP:0001991	HP:0010760	Absent toe	1	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2		90
HP:0001991	HP:0001831	Short toe	1	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2		90
HP:0001991	HP:0001831	Short toe	1	BPNT2 CL E G H	54928	26019	OMIM:614078	Chondrodysplasia with joint dislocations, Gpapp type	.
HP:0001991	HP:0001831	Short toe	1	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome	HP:0040281 - Very frequent	13
HP:0001991	HP:0001831	Short toe	1	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome		13
HP:0001991	HP:0001831	Short toe	1	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional	515
HP:0001991	HP:0010760	Absent toe	1	CHST11 CL E G H	50515	17422	OMIM:618167	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits		1
HP:0001991	HP:0001831	Short toe	1	CHST11 CL E G H	50515	17422	OMIM:618167	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits		1
HP:0001991	HP:0010760	Absent toe	1	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome		16
HP:0001991	HP:0001831	Short toe	1	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome		16
HP:0001991	HP:0001831	Short toe	1	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type	.	284
HP:0001991	HP:0001831	Short toe	1	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0001991	HP:0001831	Short toe	1	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0001991	HP:0001831	Short toe	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0001991	HP:0001831	Short toe	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0001991	HP:0010760	Absent toe	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0001991	HP:0010760	Absent toe	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0001991	HP:0010760	Absent toe	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0001991	HP:0001831	Short toe	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0001991	HP:0001831	Short toe	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0001991	HP:0010760	Absent toe	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0001991	HP:0010760	Absent toe	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0001991	HP:0001831	Short toe	1	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional	94
HP:0001991	HP:0001831	Short toe	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome	.	159
HP:0001991	HP:0010760	Absent toe	1	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	9
HP:0001991	HP:0010760	Absent toe	1	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6		9
HP:0001991	HP:0010760	Absent toe	1	DLX5 CL E G H	1749	2918	OMIM:183600	Split-Hand/foot malformation 1		3
HP:0001991	HP:0001831	Short toe	1	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040283 - Occasional	44
HP:0001991	HP:0010760	Absent toe	1	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	18
HP:0001991	HP:0001831	Short toe	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0001991	HP:0001831	Short toe	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040283 - Occasional	134
HP:0001991	HP:0001831	Short toe	1	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0001991	HP:0010760	Absent toe	1	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0001991	HP:0010760	Absent toe	1	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	4
HP:0001991	HP:0001831	Short toe	1	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4	HP:0040283 - Occasional	4
HP:0001991	HP:0010760	Absent toe	1	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0001991	HP:0001831	Short toe	1	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2		250
HP:0001991	HP:0001831	Short toe	1	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome		172
HP:0001991	HP:0010760	Absent toe	1	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1		172
HP:0001991	HP:0001831	Short toe	1	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1		172
HP:0001991	HP:0001831	Short toe	1	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome		175
HP:0001991	HP:0001831	Short toe	1	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1		175
HP:0001991	HP:0010760	Absent toe	1	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1		175
HP:0001991	HP:0001831	Short toe	1	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2		175
HP:0001991	HP:0010760	Absent toe	1	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2		175
HP:0001991	HP:0010760	Absent toe	1	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3		175
HP:0001991	HP:0001831	Short toe	1	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3		175
HP:0001991	HP:0001831	Short toe	1	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia	HP:0040281 - Very frequent	145
HP:0001991	HP:0001831	Short toe	1	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome		145
HP:0001991	HP:0001831	Short toe	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001991	HP:0010760	Absent toe	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001991	HP:0010760	Absent toe	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0001991	HP:0010760	Absent toe	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0001991	HP:0001831	Short toe	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0001991	HP:0001831	Short toe	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0001991	HP:0001831	Short toe	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent	8
HP:0001991	HP:0001831	Short toe	1	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1		493
HP:0001991	HP:0010760	Absent toe	1	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1		493
HP:0001991	HP:0001831	Short toe	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0001991	HP:0010760	Absent toe	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0001991	HP:0010760	Absent toe	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0001991	HP:0001831	Short toe	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0001991	HP:0010760	Absent toe	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0001991	HP:0001831	Short toe	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0001991	HP:0001831	Short toe	1	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	.	493
HP:0001991	HP:0001831	Short toe	1	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040281 - Very frequent	52
HP:0001991	HP:0001831	Short toe	1	GDF5 CL E G H	8200	4220	ORPHA:93388	Brachydactyly type A1		52
HP:0001991	HP:0010760	Absent toe	1	GDF5 CL E G H	8200	4220	ORPHA:93388	Brachydactyly type A1		52
HP:0001991	HP:0010760	Absent toe	1	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2		52
HP:0001991	HP:0001831	Short toe	1	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2		52
HP:0001991	HP:0010760	Absent toe	1	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly		52
HP:0001991	HP:0001831	Short toe	1	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome	HP:0040282 - Frequent	98
HP:0001991	HP:0010760	Absent toe	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0001991	HP:0001831	Short toe	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0001991	HP:0001831	Short toe	1	GJA1 CL E G H	2697	4274	ORPHA:93404	Syndactyly type 3	HP:0040283 - Occasional	68
HP:0001991	HP:0010760	Absent toe	1	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia		270
HP:0001991	HP:0001831	Short toe	1	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA	.	101
HP:0001991	HP:0001831	Short toe	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent	73
HP:0001991	HP:0001831	Short toe	1	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome
HP:0001991	HP:0010760	Absent toe	1	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome
HP:0001991	HP:0001831	Short toe	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent
HP:0001991	HP:0001831	Short toe	1	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.	3
HP:0001991	HP:0001831	Short toe	1	GRIP1 CL E G H	23426	18708	OMIM:617667	Fraser syndrome 3	.	80
HP:0001991	HP:0001831	Short toe	1	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent	200
HP:0001991	HP:0001831	Short toe	1	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent	88
HP:0001991	HP:0001831	Short toe	1	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.	33
HP:0001991	HP:0001831	Short toe	1	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0001991	HP:0010760	Absent toe	1	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0001991	HP:0001831	Short toe	1	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0001991	HP:0001831	Short toe	1	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0001991	HP:0010760	Absent toe	1	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0001991	HP:0001831	Short toe	1	HOXA13 CL E G H	3209	5102	OMIM:176305	Preaxial deficiency, postaxial polydactyly, and hypospadias		11
HP:0001991	HP:0010760	Absent toe	1	HOXD13 CL E G H	3239	5136	ORPHA:93387	Brachydactyly type E		25
HP:0001991	HP:0001831	Short toe	1	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1		25
HP:0001991	HP:0001831	Short toe	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0001991	HP:0001831	Short toe	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0001991	HP:0010760	Absent toe	1	IHH CL E G H	3549	5956	ORPHA:93388	Brachydactyly type A1		44
HP:0001991	HP:0001831	Short toe	1	IHH CL E G H	3549	5956	ORPHA:93388	Brachydactyly type A1		44
HP:0001991	HP:0001831	Short toe	1	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0001991	HP:0010760	Absent toe	1	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0001991	HP:0001831	Short toe	1	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional	48
HP:0001991	HP:0001831	Short toe	1	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional	94
HP:0001991	HP:0010760	Absent toe	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0001991	HP:0001831	Short toe	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0001991	HP:0010760	Absent toe	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0001991	HP:0001831	Short toe	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0001991	HP:0001831	Short toe	1	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		23
HP:0001991	HP:0010760	Absent toe	1	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		23
HP:0001991	HP:0010760	Absent toe	1	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0001991	HP:0001831	Short toe	1	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.	91
HP:0001991	HP:0010760	Absent toe	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0001991	HP:0010760	Absent toe	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0001991	HP:0001831	Short toe	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0001991	HP:0001831	Short toe	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0001991	HP:0001831	Short toe	1	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional	88
HP:0001991	HP:0010760	Absent toe	1	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0001991	HP:0010760	Absent toe	1	LMNA CL E G H	4000	6636	ORPHA:2229	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome		645
HP:0001991	HP:0010760	Absent toe	1	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome		124
HP:0001991	HP:0010760	Absent toe	1	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome		2
HP:0001991	HP:0010760	Absent toe	1	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome		33
HP:0001991	HP:0001831	Short toe	1	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome		33
HP:0001991	HP:0001831	Short toe	1	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0001991	HP:0001831	Short toe	1	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.	35
HP:0001991	HP:0010760	Absent toe	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0001991	HP:0001831	Short toe	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0001991	HP:0010760	Absent toe	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0001991	HP:0010760	Absent toe	1	NOG CL E G H	9241	7866	ORPHA:140908	Brachydactyly type B2		22
HP:0001991	HP:0001831	Short toe	1	NOG CL E G H	9241	7866	ORPHA:140908	Brachydactyly type B2	HP:0040281 - Very frequent	22
HP:0001991	HP:0010760	Absent toe	1	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2		22
HP:0001991	HP:0010760	Absent toe	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0001991	HP:0001831	Short toe	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0001991	HP:0010760	Absent toe	1	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	452
HP:0001991	HP:0001831	Short toe	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040281 - Very frequent	138
HP:0001991	HP:0010760	Absent toe	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0001991	HP:0001831	Short toe	1	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type		53
HP:0001991	HP:0010760	Absent toe	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0001991	HP:0001831	Short toe	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0001991	HP:0001831	Short toe	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0001991	HP:0010760	Absent toe	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0001991	HP:0010760	Absent toe	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0001991	HP:0001831	Short toe	1	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I		201
HP:0001991	HP:0001831	Short toe	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040282 - Frequent	201
HP:0001991	HP:0001831	Short toe	1	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis	HP:0040281 - Very frequent	113
HP:0001991	HP:0001831	Short toe	1	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	113
HP:0001991	HP:0001831	Short toe	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040281 - Very frequent	113
HP:0001991	HP:0001831	Short toe	1	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040281 - Very frequent	29
HP:0001991	HP:0001831	Short toe	1	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.	29
HP:0001991	HP:0010760	Absent toe	1	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001991	HP:0001831	Short toe	1	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001991	HP:0010760	Absent toe	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0001991	HP:0001831	Short toe	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0001991	HP:0001831	Short toe	1	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation	HP:0040283 - Occasional	57
HP:0001991	HP:0010760	Absent toe	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0001991	HP:0001831	Short toe	1	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis	HP:0040281 - Very frequent	134
HP:0001991	HP:0001831	Short toe	1	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	134
HP:0001991	HP:0001831	Short toe	1	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0001991	HP:0001831	Short toe	1	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome	HP:0040282 - Frequent	58
HP:0001991	HP:0010760	Absent toe	1	PTHLH CL E G H	5744	9607	ORPHA:93387	Brachydactyly type E		6
HP:0001991	HP:0001831	Short toe	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0001991	HP:0010760	Absent toe	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0001991	HP:0001831	Short toe	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.	135
HP:0001991	HP:0001831	Short toe	1	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional	127
HP:0001991	HP:0001831	Short toe	1	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional	50
HP:0001991	HP:0010760	Absent toe	1	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	3
HP:0001991	HP:0001831	Short toe	1	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3		3
HP:0001991	HP:0010760	Absent toe	1	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3	.	3
HP:0001991	HP:0010760	Absent toe	1	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome		69
HP:0001991	HP:0001831	Short toe	1	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia	.	37
HP:0001991	HP:0001831	Short toe	1	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional	37
HP:0001991	HP:0001831	Short toe	1	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome	.	15
HP:0001991	HP:0001831	Short toe	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0001991	HP:0010760	Absent toe	1	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1		120
HP:0001991	HP:0010760	Absent toe	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0001991	HP:0010760	Absent toe	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0001991	HP:0010760	Absent toe	1	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0001991	HP:0001831	Short toe	1	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0001991	HP:0010760	Absent toe	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0001991	HP:0001831	Short toe	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0001991	HP:0001831	Short toe	1	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0001991	HP:0001831	Short toe	1	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166
HP:0001991	HP:0001831	Short toe	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.	504
HP:0001991	HP:0010760	Absent toe	1	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies		15
HP:0001991	HP:0010760	Absent toe	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0001991	HP:0001831	Short toe	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0001991	HP:0001831	Short toe	1	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040282 - Frequent	6
HP:0001991	HP:0001831	Short toe	1	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0001991	HP:0001831	Short toe	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040282 - Frequent	22
HP:0001991	HP:0001831	Short toe	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0001991	HP:0001831	Short toe	1	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome	HP:0040283 - Occasional	28
HP:0001991	HP:0001831	Short toe	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0001991	HP:0001831	Short toe	1	TNNT3 CL E G H	7140	11950	OMIM:618435	Arthrogryposis, distal, type 2B2	.	43
HP:0001991	HP:0001831	Short toe	1	TRPV4 CL E G H	59341	18083	OMIM:606835	Digital arthropathy-brachydactyly, familial		214
HP:0001991	HP:0010760	Absent toe	1	TRPV4 CL E G H	59341	18083	OMIM:606835	Digital arthropathy-brachydactyly, familial		214
HP:0001991	HP:0001831	Short toe	1	TRPV4 CL E G H	59341	18083	ORPHA:85169	Familial digital arthropathy-brachydactyly		214
HP:0001991	HP:0010760	Absent toe	1	TRPV4 CL E G H	59341	18083	ORPHA:85169	Familial digital arthropathy-brachydactyly		214
HP:0001991	HP:0001831	Short toe	1	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040282 - Frequent	214
HP:0001991	HP:0010760	Absent toe	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0001991	HP:0001831	Short toe	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0001991	HP:0001831	Short toe	1	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0001991	HP:0010760	Absent toe	1	WNT10B CL E G H	7480	12775	OMIM:225300	SPLIT-HAND/FOOT MALFORMATION 6; SHFM6		4
HP:0001991	HP:0010760	Absent toe	1	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly		13
HP:0001991	HP:0010760	Absent toe	1	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type		13
HP:0001991	HP:0010760	Absent toe	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0001991	HP:0001831	Short toe	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0001991	HP:0011928	Short proximal phalanx of toe	2	CL E G H
HP:0001991	HP:0010109	Short hallux	2	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia		254
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		254
HP:0001991	HP:0010109	Short hallux	2	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	254
HP:0001991	HP:0010109	Short hallux	2	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.	49
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva		49
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva		49
HP:0001991	HP:0010109	Short hallux	2	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva	HP:0040281 - Very frequent	49
HP:0001991	HP:0001849	Foot oligodactyly	2	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional	3179
HP:0001991	HP:0010343	Aplasia/Hypoplasia of the 5th toe	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0001991	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0001991	HP:0005035	Shortening of all phalanges of the toes	2	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0001991	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	2	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0001991	HP:0010109	Short hallux	2	BHLHA9 CL E G H	727857	35126	ORPHA:157801	Mesoaxial synostotic syndactyly with phalangeal reduction	HP:0040281 - Very frequent	4
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	BHLHA9 CL E G H	727857	35126	ORPHA:157801	Mesoaxial synostotic syndactyly with phalangeal reduction	HP:0040281 - Very frequent	4
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	BHLHA9 CL E G H	727857	35126	OMIM:609432	Syndactyly, mesoaxial synostotic, with phalangeal reduction	.	4
HP:0001991	HP:0010109	Short hallux	2	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2	.	13
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2		13
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	BMPR1B CL E G H	658	1077	ORPHA:93388	Brachydactyly type A1		90
HP:0001991	HP:0010109	Short hallux	2	BMPR1B CL E G H	658	1077	ORPHA:93388	Brachydactyly type A1	HP:0040281 - Very frequent	90
HP:0001991	HP:0010109	Short hallux	2	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2	.	90
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2		90
HP:0001991	HP:0001885	Short 2nd toe	2	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.	13
HP:0001991	HP:0010109	Short hallux	2	CHST11 CL E G H	50515	17422	OMIM:618167	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits	.	1
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	CHST11 CL E G H	50515	17422	OMIM:618167	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits		1
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome		16
HP:0001991	HP:0010109	Short hallux	2	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional	16
HP:0001991	HP:0008093	Short 4th toe	2	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0001991	HP:0011917	Short 5th toe	2	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0001991	HP:0005643	Short 3rd toe	2	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0001991	HP:0001885	Short 2nd toe	2	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0001991	HP:0010109	Short hallux	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	1
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0001991	HP:0010109	Short hallux	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0001991	HP:0010109	Short hallux	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0001991	HP:0010109	Short hallux	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0001991	HP:0010331	Aplasia/Hypoplasia of the 3rd toe	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0001991	HP:0001849	Foot oligodactyly	2	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6	.	9
HP:0001991	HP:0001849	Foot oligodactyly	2	DLX5 CL E G H	1749	2918	OMIM:183600	Split-Hand/foot malformation 1		3
HP:0001991	HP:0011917	Short 5th toe	2	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional	134
HP:0001991	HP:0010109	Short hallux	2	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0001991	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	2	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0001991	HP:0010337	Aplasia/Hypoplasia of the 4th toe	2	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0001991	HP:0010331	Aplasia/Hypoplasia of the 3rd toe	2	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0001991	HP:0011917	Short 5th toe	2	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2		250
HP:0001991	HP:0003795	Short middle phalanx of toe	2	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome	.	172
HP:0001991	HP:0010109	Short hallux	2	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040281 - Very frequent	172
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1		172
HP:0001991	HP:0003795	Short middle phalanx of toe	2	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome	.	175
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1		175
HP:0001991	HP:0010109	Short hallux	2	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040281 - Very frequent	175
HP:0001991	HP:0010109	Short hallux	2	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040281 - Very frequent	175
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2		175
HP:0001991	HP:0010109	Short hallux	2	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040281 - Very frequent	175
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3		175
HP:0001991	HP:0003795	Short middle phalanx of toe	2	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome	.	145
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001991	HP:0010109	Short hallux	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001991	HP:0010109	Short hallux	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0001991	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0001991	HP:0005035	Shortening of all phalanges of the toes	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1		493
HP:0001991	HP:0010109	Short hallux	2	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1	HP:0040281 - Very frequent	493
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0001991	HP:0010109	Short hallux	2	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040281 - Very frequent	493
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0001991	HP:0010109	Short hallux	2	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0001991	HP:0010109	Short hallux	2	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	GDF5 CL E G H	8200	4220	ORPHA:93388	Brachydactyly type A1		52
HP:0001991	HP:0010109	Short hallux	2	GDF5 CL E G H	8200	4220	ORPHA:93388	Brachydactyly type A1	HP:0040281 - Very frequent	52
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2		52
HP:0001991	HP:0010109	Short hallux	2	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2	.	52
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0001991	HP:0010109	Short hallux	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional	68
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia		270
HP:0001991	HP:0001849	Foot oligodactyly	2	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional	270
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome
HP:0001991	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	2	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome	HP:0040281 - Very frequent
HP:0001991	HP:0010109	Short hallux	2	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome	HP:0040281 - Very frequent
HP:0001991	HP:0010109	Short hallux	2	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0001991	HP:0001885	Short 2nd toe	2	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0001991	HP:0010109	Short hallux	2	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040281 - Very frequent	11
HP:0001991	HP:0001885	Short 2nd toe	2	HOXA13 CL E G H	3209	5102	OMIM:176305	Preaxial deficiency, postaxial polydactyly, and hypospadias	.	11
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	HOXD13 CL E G H	3239	5136	ORPHA:93387	Brachydactyly type E		25
HP:0001991	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	2	HOXD13 CL E G H	3239	5136	ORPHA:93387	Brachydactyly type E		25
HP:0001991	HP:0003795	Short middle phalanx of toe	2	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1		25
HP:0001991	HP:0010109	Short hallux	2	IHH CL E G H	3549	5956	ORPHA:93388	Brachydactyly type A1	HP:0040281 - Very frequent	44
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	IHH CL E G H	3549	5956	ORPHA:93388	Brachydactyly type A1		44
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0001991	HP:0010109	Short hallux	2	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0001991	HP:0010109	Short hallux	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0001991	HP:0005035	Shortening of all phalanges of the toes	2	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0001991	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	2	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0001991	HP:0010109	Short hallux	2	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	23
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		23
HP:0001991	HP:0010343	Aplasia/Hypoplasia of the 5th toe	2	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0001991	HP:0010325	Aplasia/Hypoplasia of the 2nd toe	2	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0001991	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	2	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0001991	HP:0010109	Short hallux	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0001991	HP:0010109	Short hallux	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0001991	HP:0010331	Aplasia/Hypoplasia of the 3rd toe	2	LMNA CL E G H	4000	6636	ORPHA:2229	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome		645
HP:0001991	HP:0001849	Foot oligodactyly	2	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional	124
HP:0001991	HP:0010325	Aplasia/Hypoplasia of the 2nd toe	2	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome		2
HP:0001991	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	2	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome		2
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome		2
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome		33
HP:0001991	HP:0010109	Short hallux	2	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.	33
HP:0001991	HP:0009776	Adactyly	2	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040284 - Very rare	101
HP:0001991	HP:0010109	Short hallux	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0001991	HP:0005035	Shortening of all phalanges of the toes	2	NOG CL E G H	9241	7866	ORPHA:140908	Brachydactyly type B2		22
HP:0001991	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	2	NOG CL E G H	9241	7866	ORPHA:140908	Brachydactyly type B2		22
HP:0001991	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	2	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2		22
HP:0001991	HP:0010343	Aplasia/Hypoplasia of the 5th toe	2	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0001991	HP:0010109	Short hallux	2	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0001991	HP:0011305	Partial absence of toe	2	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040281 - Very frequent	138
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0001991	HP:0010109	Short hallux	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	118
HP:0001991	HP:0010109	Short hallux	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0001991	HP:0001885	Short 2nd toe	2	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I		201
HP:0001991	HP:0005035	Shortening of all phalanges of the toes	2	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001991	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	2	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001991	HP:0010109	Short hallux	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	7
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0001991	HP:0001849	Foot oligodactyly	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0001991	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	2	PTHLH CL E G H	5744	9607	ORPHA:93387	Brachydactyly type E		6
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	PTHLH CL E G H	5744	9607	ORPHA:93387	Brachydactyly type E		6
HP:0001991	HP:0010109	Short hallux	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0001991	HP:0011917	Short 5th toe	2	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3		3
HP:0001991	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	2	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome	HP:0040281 - Very frequent	69
HP:0001991	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	2	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1		120
HP:0001991	HP:0010331	Aplasia/Hypoplasia of the 3rd toe	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0001991	HP:0010331	Aplasia/Hypoplasia of the 3rd toe	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0001991	HP:0010109	Short hallux	2	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040282 - Frequent	86
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0001991	HP:0001849	Foot oligodactyly	2	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0001991	HP:0001849	Foot oligodactyly	2	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent	15
HP:0001991	HP:0001849	Foot oligodactyly	2	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.	15
HP:0001991	HP:0005035	Shortening of all phalanges of the toes	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109
HP:0001991	HP:0008093	Short 4th toe	2	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0001991	HP:0005643	Short 3rd toe	2	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0001991	HP:0008093	Short 4th toe	2	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0001991	HP:0011917	Short 5th toe	2	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0001991	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	2	TRPV4 CL E G H	59341	18083	OMIM:606835	Digital arthropathy-brachydactyly, familial		214
HP:0001991	HP:0003795	Short middle phalanx of toe	2	TRPV4 CL E G H	59341	18083	OMIM:606835	Digital arthropathy-brachydactyly, familial	.	214
HP:0001991	HP:0005035	Shortening of all phalanges of the toes	2	TRPV4 CL E G H	59341	18083	OMIM:606835	Digital arthropathy-brachydactyly, familial		214
HP:0001991	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	2	TRPV4 CL E G H	59341	18083	ORPHA:85169	Familial digital arthropathy-brachydactyly		214
HP:0001991	HP:0005035	Shortening of all phalanges of the toes	2	TRPV4 CL E G H	59341	18083	ORPHA:85169	Familial digital arthropathy-brachydactyly		214
HP:0001991	HP:0003795	Short middle phalanx of toe	2	TRPV4 CL E G H	59341	18083	ORPHA:85169	Familial digital arthropathy-brachydactyly		214
HP:0001991	HP:0008362	Aplasia/Hypoplasia of the hallux	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0001991	HP:0010109	Short hallux	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0001991	HP:0005035	Shortening of all phalanges of the toes	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0001991	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0001991	HP:0008093	Short 4th toe	2	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0001991	HP:0005643	Short 3rd toe	2	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0001991	HP:0001849	Foot oligodactyly	2	WNT10B CL E G H	7480	12775	OMIM:225300	SPLIT-HAND/FOOT MALFORMATION 6; SHFM6		4
HP:0001991	HP:0001849	Foot oligodactyly	2	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly		13
HP:0001991	HP:0001849	Foot oligodactyly	2	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040281 - Very frequent	13
HP:0001991	HP:0001849	Foot oligodactyly	2	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0001991	HP:0100377	Aplasia/hypoplasia of the proximal phalanx of the 5th toe	3	CL E G H
HP:0001991	HP:0100376	Aplasia/hypoplasia of the proximal phalanx of the 4th toe	3	CL E G H
HP:0001991	HP:0010431	Short phalanx of the 2nd toe	3	CL E G H
HP:0001991	HP:0100375	Aplasia/hypoplasia of the proximal phalanx of the 3rd toe	3	CL E G H
HP:0001991	HP:0010404	Aplasia/Hypoplasia of the middle phalanx of the 2nd toe	3	CL E G H
HP:0001991	HP:0100370	Aplasia/Hypoplasia of the distal phalanx of the 4th toe	3	CL E G H
HP:0001991	HP:0010395	Aplasia/hypoplasia of the proximal phalanx of the 2nd toe	3	CL E G H
HP:0001991	HP:0100369	Aplasia/Hypoplasia of the distal phalanx of the 3rd toe	3	CL E G H
HP:0001991	HP:0200113	Aphalangy of hands and feet	3	CL E G H
HP:0001991	HP:0100367	Short phalanx of the 4th toe	3	CL E G H
HP:0001991	HP:0200054	Foot monodactyly	3	CL E G H
HP:0001991	HP:0100366	Short phalanx of the 3rd toe	3	CL E G H
HP:0001991	HP:0010109	Short hallux	3	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0001991	HP:0010109	Short hallux	3	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	254
HP:0001991	HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux	3	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva	HP:0040282 - Frequent	49
HP:0001991	HP:0010109	Short hallux	3	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.	49
HP:0001991	HP:0010109	Short hallux	3	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva	HP:0040281 - Very frequent	49
HP:0001991	HP:0100368	Short phalanx of the 5th toe	3	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0001991	HP:0100371	Aplasia/Hypoplasia of the distal phalanx of the 5th toe	3	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0001991	HP:0001857	Short distal phalanx of toe	3	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040282 - Frequent
HP:0001991	HP:0010109	Short hallux	3	BHLHA9 CL E G H	727857	35126	ORPHA:157801	Mesoaxial synostotic syndactyly with phalangeal reduction	HP:0040281 - Very frequent	4
HP:0001991	HP:0010109	Short hallux	3	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2	.	13
HP:0001991	HP:0010109	Short hallux	3	BMPR1B CL E G H	658	1077	ORPHA:93388	Brachydactyly type A1	HP:0040281 - Very frequent	90
HP:0001991	HP:0010109	Short hallux	3	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2	.	90
HP:0001991	HP:0010109	Short hallux	3	CHST11 CL E G H	50515	17422	OMIM:618167	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits	.	1
HP:0001991	HP:0010109	Short hallux	3	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional	16
HP:0001991	HP:0010109	Short hallux	3	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	1
HP:0001991	HP:0010109	Short hallux	3	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0001991	HP:0010109	Short hallux	3	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0001991	HP:0010109	Short hallux	3	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0001991	HP:0010109	Short hallux	3	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0001991	HP:0100372	Aplasia/Hypoplasia of the middle phalanx of the 3rd toe	3	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0001991	HP:0010645	Aplasia of the distal phalanges of the toes	3	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0001991	HP:0100362	Aplasia of the phalanges of the 3rd toe	3	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0001991	HP:0100373	Aplasia/Hypoplasia of the middle phalanx of the 4th toe	3	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0001991	HP:0100363	Aplasia of the phalanges of the 4th toe	3	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0001991	HP:0010109	Short hallux	3	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040281 - Very frequent	172
HP:0001991	HP:0010109	Short hallux	3	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040281 - Very frequent	175
HP:0001991	HP:0010109	Short hallux	3	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040281 - Very frequent	175
HP:0001991	HP:0010109	Short hallux	3	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040281 - Very frequent	175
HP:0001991	HP:0010109	Short hallux	3	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001991	HP:0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux	3	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0001991	HP:0012386	Absent hallux	3	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0001991	HP:0001857	Short distal phalanx of toe	3	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0001991	HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux	3	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0001991	HP:0010111	Short phalanx of hallux	3	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0001991	HP:0010645	Aplasia of the distal phalanges of the toes	3	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0001991	HP:0010109	Short hallux	3	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0001991	HP:0010109	Short hallux	3	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1	HP:0040281 - Very frequent	493
HP:0001991	HP:0010109	Short hallux	3	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040281 - Very frequent	493
HP:0001991	HP:0010109	Short hallux	3	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0001991	HP:0010109	Short hallux	3	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0001991	HP:0010109	Short hallux	3	GDF5 CL E G H	8200	4220	ORPHA:93388	Brachydactyly type A1	HP:0040281 - Very frequent	52
HP:0001991	HP:0010109	Short hallux	3	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2	.	52
HP:0001991	HP:0010109	Short hallux	3	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional	68
HP:0001991	HP:0012386	Absent hallux	3	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional	270
HP:0001991	HP:0010109	Short hallux	3	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome	HP:0040281 - Very frequent
HP:0001991	HP:0010109	Short hallux	3	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0001991	HP:0010109	Short hallux	3	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040281 - Very frequent	11
HP:0001991	HP:0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux	3	HOXD13 CL E G H	3239	5136	ORPHA:93387	Brachydactyly type E	HP:0040283 - Occasional	25
HP:0001991	HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux	3	HOXD13 CL E G H	3239	5136	ORPHA:93387	Brachydactyly type E		25
HP:0001991	HP:0008083	2nd-5th toe middle phalangeal hypoplasia	3	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1	.	25
HP:0001991	HP:0010109	Short hallux	3	IHH CL E G H	3549	5956	ORPHA:93388	Brachydactyly type A1	HP:0040281 - Very frequent	44
HP:0001991	HP:0010111	Short phalanx of hallux	3	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0001991	HP:0010109	Short hallux	3	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0001991	HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux	3	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0001991	HP:0010109	Short hallux	3	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0001991	HP:0001857	Short distal phalanx of toe	3	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.	13
HP:0001991	HP:0010109	Short hallux	3	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	23
HP:0001991	HP:0100364	Aplasia of the phalanges of the 5th toe	3	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0001991	HP:0010430	Aplasia of the phalanges of the 2nd toe	3	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0001991	HP:0100371	Aplasia/Hypoplasia of the distal phalanx of the 5th toe	3	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0001991	HP:0010413	Aplasia/Hypoplasia of the distal phalanx of the 2nd toe	3	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0001991	HP:0010645	Aplasia of the distal phalanges of the toes	3	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0001991	HP:0010109	Short hallux	3	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0001991	HP:0010109	Short hallux	3	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0001991	HP:0100362	Aplasia of the phalanges of the 3rd toe	3	LMNA CL E G H	4000	6636	ORPHA:2229	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	HP:0040281 - Very frequent	645
HP:0001991	HP:0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux	3	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome		2
HP:0001991	HP:0010413	Aplasia/Hypoplasia of the distal phalanx of the 2nd toe	3	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome		2
HP:0001991	HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux	3	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome		2
HP:0001991	HP:0010109	Short hallux	3	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.	33
HP:0001991	HP:0010109	Short hallux	3	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0001991	HP:0001857	Short distal phalanx of toe	3	NOG CL E G H	9241	7866	ORPHA:140908	Brachydactyly type B2	HP:0040281 - Very frequent	22
HP:0001991	HP:0100374	Aplasia/Hypoplasia of the middle phalanx of the 5th toe	3	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0001991	HP:0010109	Short hallux	3	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0001991	HP:0100368	Short phalanx of the 5th toe	3	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0001991	HP:0010109	Short hallux	3	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	118
HP:0001991	HP:0010109	Short hallux	3	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0001991	HP:0001857	Short distal phalanx of toe	3	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001991	HP:0010109	Short hallux	3	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	7
HP:0001991	HP:0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux	3	PTHLH CL E G H	5744	9607	ORPHA:93387	Brachydactyly type E	HP:0040283 - Occasional	6
HP:0001991	HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux	3	PTHLH CL E G H	5744	9607	ORPHA:93387	Brachydactyly type E		6
HP:0001991	HP:0010109	Short hallux	3	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0001991	HP:0010109	Short hallux	3	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040282 - Frequent	86
HP:0001991	HP:0001857	Short distal phalanx of toe	3	TRPV4 CL E G H	59341	18083	OMIM:606835	Digital arthropathy-brachydactyly, familial	.	214
HP:0001991	HP:0001857	Short distal phalanx of toe	3	TRPV4 CL E G H	59341	18083	ORPHA:85169	Familial digital arthropathy-brachydactyly		214
HP:0001991	HP:0006239	Shortening of all middle phalanges of the toes	3	TRPV4 CL E G H	59341	18083	ORPHA:85169	Familial digital arthropathy-brachydactyly	HP:0040281 - Very frequent	214
HP:0001991	HP:0010111	Short phalanx of hallux	3	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0001991	HP:0010645	Aplasia of the distal phalanges of the toes	3	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0001991	HP:0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux	3	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0001991	HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux	3	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0001991	HP:0001857	Short distal phalanx of toe	3	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0001991	HP:0010109	Short hallux	3	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0001991	HP:0100397	Short proximal phalanx of the 5th toe	4	CL E G H
HP:0001991	HP:0010103	Short distal phalanx of hallux	4	CL E G H
HP:0001991	HP:0010433	Short distal phalanx of the 2nd toe	4	CL E G H
HP:0001991	HP:0100386	Aplasia of the proximal phalanx of the 5th toe	4	CL E G H
HP:0001991	HP:0100396	Short proximal phalanx of the 4th toe	4	CL E G H
HP:0001991	HP:0100385	Aplasia of the proximal phalanx of the 4th toe	4	CL E G H
HP:0001991	HP:0100395	Short proximal phalanx of the 3rd toe	4	CL E G H
HP:0001991	HP:0100384	Absent proximal phalanx of the 3rd toe	4	CL E G H
HP:0001991	HP:0010437	Short proximal phalanx of the 2nd toe	4	CL E G H
HP:0001991	HP:0100393	Short middle phalanx of the 4th toe	4	CL E G H
HP:0001991	HP:0100383	Aplasia of the middle phalanx of the 5th toe	4	CL E G H
HP:0001991	HP:0010436	Aplasia of the proximal phalanx of the 2nd toe	4	CL E G H
HP:0001991	HP:0100392	Short middle phalanx of the 3rd toe	4	CL E G H
HP:0001991	HP:0100379	Aplasia of the distal phalanx of the 4th toe	4	CL E G H
HP:0001991	HP:0010435	Short middle phalanx of the 2nd toe	4	CL E G H
HP:0001991	HP:0100390	Short distal phalanx of the 4th toe	4	CL E G H
HP:0001991	HP:0100378	Absent distal phalanx of the 3rd toe	4	CL E G H
HP:0001991	HP:0010434	Aplasia of the middle phalanx of the 2nd toe	4	CL E G H
HP:0001991	HP:0100389	Short distal phalanx of the 3rd toe	4	CL E G H
HP:0001991	HP:0100391	Short distal phalanx of the 5th toe	4	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0001991	HP:0100382	Aplasia of the middle phalanx of the 4th toe	4	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0001991	HP:0100381	Absent middle phalanx of the 3rd toe	4	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0001991	HP:0005793	Shortening of all distal phalanges of the toes	4	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0001991	HP:0010102	Aplasia of the distal phalanx of the hallux	4	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040281 - Very frequent	111
HP:0001991	HP:0010107	Short proximal phalanx of hallux	4	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040281 - Very frequent	111
HP:0001991	HP:0010110	Aplasia of the phalanges of the hallux	4	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0001991	HP:0010111	Short phalanx of hallux	4	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0001991	HP:0010085	Aplasia/Hypoplasia of the proximal phalanx of the hallux	4	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0001991	HP:0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux	4	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0001991	HP:0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux	4	HOXD13 CL E G H	3239	5136	ORPHA:93387	Brachydactyly type E	HP:0040283 - Occasional	25
HP:0001991	HP:0010085	Aplasia/Hypoplasia of the proximal phalanx of the hallux	4	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0001991	HP:0010111	Short phalanx of hallux	4	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0001991	HP:0010107	Short proximal phalanx of hallux	4	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0001991	HP:0010432	Absent distal phalanx of the 2nd toe	4	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0001991	HP:0100380	Aplasia of the distal phalanx of the 5th toe	4	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0001991	HP:0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux	4	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome		2
HP:0001991	HP:0100394	Short middle phalanx of the 5th toe	4	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0001991	HP:0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux	4	PTHLH CL E G H	5744	9607	ORPHA:93387	Brachydactyly type E	HP:0040283 - Occasional	6
HP:0001991	HP:0005793	Shortening of all distal phalanges of the toes	4	TRPV4 CL E G H	59341	18083	ORPHA:85169	Familial digital arthropathy-brachydactyly	HP:0040281 - Very frequent	214
HP:0001991	HP:0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux	4	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0001991	HP:0005793	Shortening of all distal phalanges of the toes	4	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0001991	HP:0010102	Aplasia of the distal phalanx of the hallux	4	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040281 - Very frequent	6
HP:0001991	HP:0010107	Short proximal phalanx of hallux	4	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040281 - Very frequent	6
HP:0001991	HP:0010110	Aplasia of the phalanges of the hallux	4	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0001991	HP:0010111	Short phalanx of hallux	4	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0001991	HP:0010085	Aplasia/Hypoplasia of the proximal phalanx of the hallux	4	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0001991	HP:0010106	Aplasia of the proximal phalanx of the hallux	5	CL E G H
HP:0001991	HP:0010103	Short distal phalanx of hallux	5	CL E G H
HP:0001991	HP:0010102	Aplasia of the distal phalanx of the hallux	5	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040281 - Very frequent	111
HP:0001991	HP:0010107	Short proximal phalanx of hallux	5	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040281 - Very frequent	111
HP:0001991	HP:0010107	Short proximal phalanx of hallux	5	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0001991	HP:0010102	Aplasia of the distal phalanx of the hallux	5	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040281 - Very frequent	6
HP:0001991	HP:0010107	Short proximal phalanx of hallux	5	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040281 - Very frequent	6