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:
Abnormal toenail morphology (HP:0008388)

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

..Starting node
..Aplastic/hypoplastic toenail (HP:0010624)

Term ID:

10624

Name:

Aplastic/hypoplastic toenail

Synonym:

Absent/small toenails; Absent/underdeveloped toenails; Aplastic/hypoplastic toenails; Hypoplastic-absent toenails

Definition:

Absence or underdevelopment of the toenail.

Comments:

Reference:

HP:0010624

Genes and Diseases:

Child Nodes:

........

Hypoplastic toenails (HP:0001800)

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

........

Absent toenail (HP:0001802)

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

Sister Nodes:

Anonychia (HP:0001798)

Short nail (HP:0001799)

Small nail (HP:0001792)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	CKAP2L CL E G H	150468	3255	Limb scalp and skull defects			ORPHA	1	94	26877	616174
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	CKAP2L CL E G H	150468	3255	Limb scalp and skull defects			ORPHA	1	78	26877	616174
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	CTC1 CL E G H	80169	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	918	26169	613129
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	CTC1 CL E G H	80169	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	729	26169	613129
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	DKC1 CL E G H	1736	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	426	2890	300126
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	DKC1 CL E G H	1736	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	396	2890	300126
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	GDF5 CL E G H	8200	228900	Fibular hypoplasia and complex brachydactyly	228900	C1856738	OMIM	1	149	4220	601146
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	GDF5 CL E G H	8200	228900	Fibular hypoplasia and complex brachydactyly	228900	C1856738	OMIM	1	124	4220	601146
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	NHP2 CL E G H	55651	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	136	14377	606470
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	NHP2 CL E G H	55651	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	113	14377	606470
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	NOG CL E G H	9241	186500	Symphalangism-brachydactyly syndrome	186500	C0342282	OMIM	1	82	7866	602991
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	NOG CL E G H	9241	186500	Symphalangism-brachydactyly syndrome	186500	C0342282	OMIM	1	63	7866	602991
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	NOP10 CL E G H	55505	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	88	14378	606471
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	NOP10 CL E G H	55505	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	80	14378	606471
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	PARN CL E G H	5073	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	356	8609	604212
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	PARN CL E G H	5073	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	266	8609	604212
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	RTEL1 CL E G H	51750	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	1605	15888	608833
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	RTEL1 CL E G H	51750	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	1339	15888	608833
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	SHOX CL E G H	6473	240	Say Carpenter syndrome			ORPHA	1	269	10853	312865
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	SHOX CL E G H	6473	240	Say Carpenter syndrome			ORPHA	1	266	10853	312865
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	TERC CL E G H	7012	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	291	11727	602322
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	TERC CL E G H	7012	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	227	11727	602322
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	TERT CL E G H	7015	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	1887	11730	187270
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	TERT CL E G H	7015	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	1606	11730	187270
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	TINF2 CL E G H	26277	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	288	11824	604319
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	TINF2 CL E G H	26277	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	230	11824	604319
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	USB1 CL E G H	79650	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	181	25792	613276
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	USB1 CL E G H	79650	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	118	25792	613276
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	WRAP53 CL E G H	55135	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	297	25522	612661
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	WRAP53 CL E G H	55135	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	185	25522	612661
HP:0010624	HP:0001802	Absent toenail	1	CKAP2L CL E G H	150468	3255	Limb scalp and skull defects			ORPHA	1	94	26877	616174
HP:0010624	HP:0001802	Absent toenail	1	CKAP2L CL E G H	150468	3255	Limb scalp and skull defects			ORPHA	1	78	26877	616174
HP:0010624	HP:0001800	Hypoplastic toenails	1	CKAP2L CL E G H	150468	3255	Limb scalp and skull defects			ORPHA	1	94	26877	616174
HP:0010624	HP:0001800	Hypoplastic toenails	1	CKAP2L CL E G H	150468	3255	Limb scalp and skull defects			ORPHA	1	78	26877	616174
HP:0010624	HP:0001802	Absent toenail	1	CTC1 CL E G H	80169	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	918	26169	613129
HP:0010624	HP:0001802	Absent toenail	1	CTC1 CL E G H	80169	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	729	26169	613129
HP:0010624	HP:0001800	Hypoplastic toenails	1	CTC1 CL E G H	80169	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	918	26169	613129
HP:0010624	HP:0001800	Hypoplastic toenails	1	CTC1 CL E G H	80169	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	729	26169	613129
HP:0010624	HP:0001802	Absent toenail	1	DKC1 CL E G H	1736	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	426	2890	300126
HP:0010624	HP:0001802	Absent toenail	1	DKC1 CL E G H	1736	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	396	2890	300126
HP:0010624	HP:0001800	Hypoplastic toenails	1	DKC1 CL E G H	1736	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	426	2890	300126
HP:0010624	HP:0001800	Hypoplastic toenails	1	DKC1 CL E G H	1736	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	396	2890	300126
HP:0010624	HP:0001802	Absent toenail	1	GDF5 CL E G H	8200	228900	Fibular hypoplasia and complex brachydactyly	228900	C1856738	OMIM	1	149	4220	601146
HP:0010624	HP:0001802	Absent toenail	1	GDF5 CL E G H	8200	228900	Fibular hypoplasia and complex brachydactyly	228900	C1856738	OMIM	1	124	4220	601146
HP:0010624	HP:0001800	Hypoplastic toenails	1	GDF5 CL E G H	8200	228900	Fibular hypoplasia and complex brachydactyly	228900	C1856738	OMIM	1	149	4220	601146
HP:0010624	HP:0001800	Hypoplastic toenails	1	GDF5 CL E G H	8200	228900	Fibular hypoplasia and complex brachydactyly	228900	C1856738	OMIM	1	124	4220	601146
HP:0010624	HP:0001802	Absent toenail	1	NHP2 CL E G H	55651	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	136	14377	606470
HP:0010624	HP:0001802	Absent toenail	1	NHP2 CL E G H	55651	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	113	14377	606470
HP:0010624	HP:0001800	Hypoplastic toenails	1	NHP2 CL E G H	55651	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	136	14377	606470
HP:0010624	HP:0001800	Hypoplastic toenails	1	NHP2 CL E G H	55651	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	113	14377	606470
HP:0010624	HP:0001802	Absent toenail	1	NOG CL E G H	9241	186500	Symphalangism-brachydactyly syndrome	186500	C0342282	OMIM	1	82	7866	602991
HP:0010624	HP:0001802	Absent toenail	1	NOG CL E G H	9241	186500	Symphalangism-brachydactyly syndrome	186500	C0342282	OMIM	1	63	7866	602991
HP:0010624	HP:0001800	Hypoplastic toenails	1	NOG CL E G H	9241	186500	Symphalangism-brachydactyly syndrome	186500	C0342282	OMIM	1	82	7866	602991
HP:0010624	HP:0001800	Hypoplastic toenails	1	NOG CL E G H	9241	186500	Symphalangism-brachydactyly syndrome	186500	C0342282	OMIM	1	63	7866	602991
HP:0010624	HP:0001802	Absent toenail	1	NOP10 CL E G H	55505	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	88	14378	606471
HP:0010624	HP:0001802	Absent toenail	1	NOP10 CL E G H	55505	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	80	14378	606471
HP:0010624	HP:0001800	Hypoplastic toenails	1	NOP10 CL E G H	55505	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	88	14378	606471
HP:0010624	HP:0001800	Hypoplastic toenails	1	NOP10 CL E G H	55505	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	80	14378	606471
HP:0010624	HP:0001802	Absent toenail	1	PARN CL E G H	5073	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	356	8609	604212
HP:0010624	HP:0001802	Absent toenail	1	PARN CL E G H	5073	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	266	8609	604212
HP:0010624	HP:0001800	Hypoplastic toenails	1	PARN CL E G H	5073	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	356	8609	604212
HP:0010624	HP:0001800	Hypoplastic toenails	1	PARN CL E G H	5073	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	266	8609	604212
HP:0010624	HP:0001802	Absent toenail	1	RTEL1 CL E G H	51750	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	1605	15888	608833
HP:0010624	HP:0001802	Absent toenail	1	RTEL1 CL E G H	51750	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	1339	15888	608833
HP:0010624	HP:0001800	Hypoplastic toenails	1	RTEL1 CL E G H	51750	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	1605	15888	608833
HP:0010624	HP:0001800	Hypoplastic toenails	1	RTEL1 CL E G H	51750	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	1339	15888	608833
HP:0010624	HP:0001802	Absent toenail	1	SHOX CL E G H	6473	240	Say Carpenter syndrome			ORPHA	1	269	10853	312865
HP:0010624	HP:0001802	Absent toenail	1	SHOX CL E G H	6473	240	Say Carpenter syndrome			ORPHA	1	266	10853	312865
HP:0010624	HP:0001800	Hypoplastic toenails	1	SHOX CL E G H	6473	240	Say Carpenter syndrome			ORPHA	1	269	10853	312865
HP:0010624	HP:0001800	Hypoplastic toenails	1	SHOX CL E G H	6473	240	Say Carpenter syndrome			ORPHA	1	266	10853	312865
HP:0010624	HP:0001802	Absent toenail	1	TERC CL E G H	7012	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	291	11727	602322
HP:0010624	HP:0001802	Absent toenail	1	TERC CL E G H	7012	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	227	11727	602322
HP:0010624	HP:0001800	Hypoplastic toenails	1	TERC CL E G H	7012	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	291	11727	602322
HP:0010624	HP:0001800	Hypoplastic toenails	1	TERC CL E G H	7012	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	227	11727	602322
HP:0010624	HP:0001802	Absent toenail	1	TERT CL E G H	7015	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	1887	11730	187270
HP:0010624	HP:0001802	Absent toenail	1	TERT CL E G H	7015	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	1606	11730	187270
HP:0010624	HP:0001800	Hypoplastic toenails	1	TERT CL E G H	7015	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	1887	11730	187270
HP:0010624	HP:0001800	Hypoplastic toenails	1	TERT CL E G H	7015	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	1606	11730	187270
HP:0010624	HP:0001802	Absent toenail	1	TINF2 CL E G H	26277	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	288	11824	604319
HP:0010624	HP:0001802	Absent toenail	1	TINF2 CL E G H	26277	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	230	11824	604319
HP:0010624	HP:0001800	Hypoplastic toenails	1	TINF2 CL E G H	26277	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	288	11824	604319
HP:0010624	HP:0001800	Hypoplastic toenails	1	TINF2 CL E G H	26277	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	230	11824	604319
HP:0010624	HP:0001802	Absent toenail	1	USB1 CL E G H	79650	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	181	25792	613276
HP:0010624	HP:0001802	Absent toenail	1	USB1 CL E G H	79650	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	118	25792	613276
HP:0010624	HP:0001800	Hypoplastic toenails	1	USB1 CL E G H	79650	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	181	25792	613276
HP:0010624	HP:0001800	Hypoplastic toenails	1	USB1 CL E G H	79650	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	118	25792	613276
HP:0010624	HP:0001802	Absent toenail	1	WRAP53 CL E G H	55135	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	297	25522	612661
HP:0010624	HP:0001802	Absent toenail	1	WRAP53 CL E G H	55135	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	185	25522	612661
HP:0010624	HP:0001800	Hypoplastic toenails	1	WRAP53 CL E G H	55135	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	297	25522	612661
HP:0010624	HP:0001800	Hypoplastic toenails	1	WRAP53 CL E G H	55135	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	185	25522	612661
HP:0010624	HP:0012555	Absent nail of hallux	2	CKAP2L CL E G H	150468	3255	Limb scalp and skull defects			ORPHA	1	94	26877	616174
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	CKAP2L CL E G H	150468	3255	Limb scalp and skull defects			ORPHA	1	94	26877	616174
HP:0010624	HP:0012555	Absent nail of hallux	2	CKAP2L CL E G H	150468	3255	Limb scalp and skull defects			ORPHA	1	78	26877	616174
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	CKAP2L CL E G H	150468	3255	Limb scalp and skull defects			ORPHA	1	78	26877	616174
HP:0010624	HP:0200105	Absent fifth toenail	2	CKAP2L CL E G H	150468	3255	Limb scalp and skull defects			ORPHA	1	94	26877	616174
HP:0010624	HP:0200105	Absent fifth toenail	2	CKAP2L CL E G H	150468	3255	Limb scalp and skull defects			ORPHA	1	78	26877	616174
HP:0010624	HP:0012555	Absent nail of hallux	2	CTC1 CL E G H	80169	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	918	26169	613129
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	CTC1 CL E G H	80169	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	918	26169	613129
HP:0010624	HP:0012555	Absent nail of hallux	2	CTC1 CL E G H	80169	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	729	26169	613129
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	CTC1 CL E G H	80169	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	729	26169	613129
HP:0010624	HP:0200105	Absent fifth toenail	2	CTC1 CL E G H	80169	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	918	26169	613129
HP:0010624	HP:0200105	Absent fifth toenail	2	CTC1 CL E G H	80169	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	729	26169	613129
HP:0010624	HP:0012555	Absent nail of hallux	2	DKC1 CL E G H	1736	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	426	2890	300126
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	DKC1 CL E G H	1736	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	426	2890	300126
HP:0010624	HP:0012555	Absent nail of hallux	2	DKC1 CL E G H	1736	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	396	2890	300126
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	DKC1 CL E G H	1736	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	396	2890	300126
HP:0010624	HP:0200105	Absent fifth toenail	2	DKC1 CL E G H	1736	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	426	2890	300126
HP:0010624	HP:0200105	Absent fifth toenail	2	DKC1 CL E G H	1736	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	396	2890	300126
HP:0010624	HP:0012555	Absent nail of hallux	2	GDF5 CL E G H	8200	228900	Fibular hypoplasia and complex brachydactyly	228900	C1856738	OMIM	1	149	4220	601146
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	GDF5 CL E G H	8200	228900	Fibular hypoplasia and complex brachydactyly	228900	C1856738	OMIM	1	149	4220	601146
HP:0010624	HP:0012555	Absent nail of hallux	2	GDF5 CL E G H	8200	228900	Fibular hypoplasia and complex brachydactyly	228900	C1856738	OMIM	1	124	4220	601146
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	GDF5 CL E G H	8200	228900	Fibular hypoplasia and complex brachydactyly	228900	C1856738	OMIM	1	124	4220	601146
HP:0010624	HP:0200105	Absent fifth toenail	2	GDF5 CL E G H	8200	228900	Fibular hypoplasia and complex brachydactyly	228900	C1856738	OMIM	1	149	4220	601146
HP:0010624	HP:0200105	Absent fifth toenail	2	GDF5 CL E G H	8200	228900	Fibular hypoplasia and complex brachydactyly	228900	C1856738	OMIM	1	124	4220	601146
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	NHP2 CL E G H	55651	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	136	14377	606470
HP:0010624	HP:0012555	Absent nail of hallux	2	NHP2 CL E G H	55651	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	136	14377	606470
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	NHP2 CL E G H	55651	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	113	14377	606470
HP:0010624	HP:0012555	Absent nail of hallux	2	NHP2 CL E G H	55651	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	113	14377	606470
HP:0010624	HP:0200105	Absent fifth toenail	2	NHP2 CL E G H	55651	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	136	14377	606470
HP:0010624	HP:0200105	Absent fifth toenail	2	NHP2 CL E G H	55651	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	113	14377	606470
HP:0010624	HP:0012555	Absent nail of hallux	2	NOG CL E G H	9241	186500	Symphalangism-brachydactyly syndrome	186500	C0342282	OMIM	1	82	7866	602991
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	NOG CL E G H	9241	186500	Symphalangism-brachydactyly syndrome	186500	C0342282	OMIM	1	82	7866	602991
HP:0010624	HP:0012555	Absent nail of hallux	2	NOG CL E G H	9241	186500	Symphalangism-brachydactyly syndrome	186500	C0342282	OMIM	1	63	7866	602991
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	NOG CL E G H	9241	186500	Symphalangism-brachydactyly syndrome	186500	C0342282	OMIM	1	63	7866	602991
HP:0010624	HP:0200105	Absent fifth toenail	2	NOG CL E G H	9241	186500	Symphalangism-brachydactyly syndrome	186500	C0342282	OMIM	1	82	7866	602991
HP:0010624	HP:0200105	Absent fifth toenail	2	NOG CL E G H	9241	186500	Symphalangism-brachydactyly syndrome	186500	C0342282	OMIM	1	63	7866	602991
HP:0010624	HP:0012555	Absent nail of hallux	2	NOP10 CL E G H	55505	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	88	14378	606471
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	NOP10 CL E G H	55505	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	88	14378	606471
HP:0010624	HP:0012555	Absent nail of hallux	2	NOP10 CL E G H	55505	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	80	14378	606471
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	NOP10 CL E G H	55505	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	80	14378	606471
HP:0010624	HP:0200105	Absent fifth toenail	2	NOP10 CL E G H	55505	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	88	14378	606471
HP:0010624	HP:0200105	Absent fifth toenail	2	NOP10 CL E G H	55505	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	80	14378	606471
HP:0010624	HP:0012555	Absent nail of hallux	2	PARN CL E G H	5073	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	356	8609	604212
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	PARN CL E G H	5073	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	356	8609	604212
HP:0010624	HP:0012555	Absent nail of hallux	2	PARN CL E G H	5073	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	266	8609	604212
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	PARN CL E G H	5073	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	266	8609	604212
HP:0010624	HP:0200105	Absent fifth toenail	2	PARN CL E G H	5073	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	356	8609	604212
HP:0010624	HP:0200105	Absent fifth toenail	2	PARN CL E G H	5073	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	266	8609	604212
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	RTEL1 CL E G H	51750	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	1605	15888	608833
HP:0010624	HP:0012555	Absent nail of hallux	2	RTEL1 CL E G H	51750	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	1605	15888	608833
HP:0010624	HP:0012555	Absent nail of hallux	2	RTEL1 CL E G H	51750	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	1339	15888	608833
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	RTEL1 CL E G H	51750	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	1339	15888	608833
HP:0010624	HP:0200105	Absent fifth toenail	2	RTEL1 CL E G H	51750	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	1605	15888	608833
HP:0010624	HP:0200105	Absent fifth toenail	2	RTEL1 CL E G H	51750	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	1339	15888	608833
HP:0010624	HP:0012555	Absent nail of hallux	2	SHOX CL E G H	6473	240	Say Carpenter syndrome			ORPHA	1	269	10853	312865
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	SHOX CL E G H	6473	240	Say Carpenter syndrome			ORPHA	1	269	10853	312865
HP:0010624	HP:0012555	Absent nail of hallux	2	SHOX CL E G H	6473	240	Say Carpenter syndrome			ORPHA	1	266	10853	312865
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	SHOX CL E G H	6473	240	Say Carpenter syndrome			ORPHA	1	266	10853	312865
HP:0010624	HP:0200105	Absent fifth toenail	2	SHOX CL E G H	6473	240	Say Carpenter syndrome			ORPHA	1	269	10853	312865
HP:0010624	HP:0200105	Absent fifth toenail	2	SHOX CL E G H	6473	240	Say Carpenter syndrome			ORPHA	1	266	10853	312865
HP:0010624	HP:0012555	Absent nail of hallux	2	TERC CL E G H	7012	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	291	11727	602322
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	TERC CL E G H	7012	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	291	11727	602322
HP:0010624	HP:0012555	Absent nail of hallux	2	TERC CL E G H	7012	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	227	11727	602322
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	TERC CL E G H	7012	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	227	11727	602322
HP:0010624	HP:0200105	Absent fifth toenail	2	TERC CL E G H	7012	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	291	11727	602322
HP:0010624	HP:0200105	Absent fifth toenail	2	TERC CL E G H	7012	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	227	11727	602322
HP:0010624	HP:0012555	Absent nail of hallux	2	TERT CL E G H	7015	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	1887	11730	187270
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	TERT CL E G H	7015	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	1887	11730	187270
HP:0010624	HP:0012555	Absent nail of hallux	2	TERT CL E G H	7015	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	1606	11730	187270
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	TERT CL E G H	7015	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	1606	11730	187270
HP:0010624	HP:0200105	Absent fifth toenail	2	TERT CL E G H	7015	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	1887	11730	187270
HP:0010624	HP:0200105	Absent fifth toenail	2	TERT CL E G H	7015	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	1606	11730	187270
HP:0010624	HP:0012555	Absent nail of hallux	2	TINF2 CL E G H	26277	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	288	11824	604319
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	TINF2 CL E G H	26277	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	288	11824	604319
HP:0010624	HP:0012555	Absent nail of hallux	2	TINF2 CL E G H	26277	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	230	11824	604319
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	TINF2 CL E G H	26277	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	230	11824	604319
HP:0010624	HP:0200105	Absent fifth toenail	2	TINF2 CL E G H	26277	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	288	11824	604319
HP:0010624	HP:0200105	Absent fifth toenail	2	TINF2 CL E G H	26277	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	230	11824	604319
HP:0010624	HP:0012555	Absent nail of hallux	2	USB1 CL E G H	79650	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	181	25792	613276
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	USB1 CL E G H	79650	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	181	25792	613276
HP:0010624	HP:0012555	Absent nail of hallux	2	USB1 CL E G H	79650	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	118	25792	613276
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	USB1 CL E G H	79650	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	118	25792	613276
HP:0010624	HP:0200105	Absent fifth toenail	2	USB1 CL E G H	79650	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	181	25792	613276
HP:0010624	HP:0200105	Absent fifth toenail	2	USB1 CL E G H	79650	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	118	25792	613276
HP:0010624	HP:0012555	Absent nail of hallux	2	WRAP53 CL E G H	55135	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	297	25522	612661
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	WRAP53 CL E G H	55135	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	297	25522	612661
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	WRAP53 CL E G H	55135	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	185	25522	612661
HP:0010624	HP:0012555	Absent nail of hallux	2	WRAP53 CL E G H	55135	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	185	25522	612661
HP:0010624	HP:0200105	Absent fifth toenail	2	WRAP53 CL E G H	55135	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	297	25522	612661
HP:0010624	HP:0200105	Absent fifth toenail	2	WRAP53 CL E G H	55135	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	185	25522	612661
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	ARHGAP31 CL E G H	57514	974	Brachydactyly small stature face anomalies			ORPHA	0	210	29216	610911
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	ARHGAP31 CL E G H	57514	974	Brachydactyly small stature face anomalies			ORPHA	0	174	29216	610911
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	DLL4 CL E G H	54567	974	Brachydactyly small stature face anomalies			ORPHA	0	109	2910	605185
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	DLL4 CL E G H	54567	974	Brachydactyly small stature face anomalies			ORPHA	0	75	2910	605185
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	DOCK6 CL E G H	57572	974	Brachydactyly small stature face anomalies			ORPHA	0	472	19189	614194
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	DOCK6 CL E G H	57572	974	Brachydactyly small stature face anomalies			ORPHA	0	361	19189	614194
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	EOGT CL E G H	285203	974	Brachydactyly small stature face anomalies			ORPHA	0	137	28526	614789
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	EOGT CL E G H	285203	974	Brachydactyly small stature face anomalies			ORPHA	0	122	28526	614789
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	NOTCH1 CL E G H	4851	974	Brachydactyly small stature face anomalies			ORPHA	0	2158	7881	190198
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	NOTCH1 CL E G H	4851	974	Brachydactyly small stature face anomalies			ORPHA	0	1933	7881	190198
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	RBPJ CL E G H	3516	974	Brachydactyly small stature face anomalies			ORPHA	0	117	5724	147183
HP:0010624	HP:0010624	Aplastic/hypoplastic toenail	0	RBPJ CL E G H	3516	974	Brachydactyly small stature face anomalies			ORPHA	0	107	5724	147183
HP:0010624	HP:0001802	Absent toenail	1	ARHGAP31 CL E G H	57514	974	Brachydactyly small stature face anomalies			ORPHA	0	210	29216	610911
HP:0010624	HP:0001802	Absent toenail	1	ARHGAP31 CL E G H	57514	974	Brachydactyly small stature face anomalies			ORPHA	0	174	29216	610911
HP:0010624	HP:0001800	Hypoplastic toenails	1	ARHGAP31 CL E G H	57514	974	Brachydactyly small stature face anomalies			ORPHA	0	210	29216	610911
HP:0010624	HP:0001800	Hypoplastic toenails	1	ARHGAP31 CL E G H	57514	974	Brachydactyly small stature face anomalies			ORPHA	0	174	29216	610911
HP:0010624	HP:0001802	Absent toenail	1	DLL4 CL E G H	54567	974	Brachydactyly small stature face anomalies			ORPHA	0	109	2910	605185
HP:0010624	HP:0001802	Absent toenail	1	DLL4 CL E G H	54567	974	Brachydactyly small stature face anomalies			ORPHA	0	75	2910	605185
HP:0010624	HP:0001800	Hypoplastic toenails	1	DLL4 CL E G H	54567	974	Brachydactyly small stature face anomalies			ORPHA	0	109	2910	605185
HP:0010624	HP:0001800	Hypoplastic toenails	1	DLL4 CL E G H	54567	974	Brachydactyly small stature face anomalies			ORPHA	0	75	2910	605185
HP:0010624	HP:0001802	Absent toenail	1	DOCK6 CL E G H	57572	974	Brachydactyly small stature face anomalies			ORPHA	0	472	19189	614194
HP:0010624	HP:0001802	Absent toenail	1	DOCK6 CL E G H	57572	974	Brachydactyly small stature face anomalies			ORPHA	0	361	19189	614194
HP:0010624	HP:0001800	Hypoplastic toenails	1	DOCK6 CL E G H	57572	974	Brachydactyly small stature face anomalies			ORPHA	0	472	19189	614194
HP:0010624	HP:0001800	Hypoplastic toenails	1	DOCK6 CL E G H	57572	974	Brachydactyly small stature face anomalies			ORPHA	0	361	19189	614194
HP:0010624	HP:0001802	Absent toenail	1	EOGT CL E G H	285203	974	Brachydactyly small stature face anomalies			ORPHA	0	137	28526	614789
HP:0010624	HP:0001802	Absent toenail	1	EOGT CL E G H	285203	974	Brachydactyly small stature face anomalies			ORPHA	0	122	28526	614789
HP:0010624	HP:0001800	Hypoplastic toenails	1	EOGT CL E G H	285203	974	Brachydactyly small stature face anomalies			ORPHA	0	137	28526	614789
HP:0010624	HP:0001800	Hypoplastic toenails	1	EOGT CL E G H	285203	974	Brachydactyly small stature face anomalies			ORPHA	0	122	28526	614789
HP:0010624	HP:0001802	Absent toenail	1	NOTCH1 CL E G H	4851	974	Brachydactyly small stature face anomalies			ORPHA	0	2158	7881	190198
HP:0010624	HP:0001802	Absent toenail	1	NOTCH1 CL E G H	4851	974	Brachydactyly small stature face anomalies			ORPHA	0	1933	7881	190198
HP:0010624	HP:0001800	Hypoplastic toenails	1	NOTCH1 CL E G H	4851	974	Brachydactyly small stature face anomalies			ORPHA	0	2158	7881	190198
HP:0010624	HP:0001800	Hypoplastic toenails	1	NOTCH1 CL E G H	4851	974	Brachydactyly small stature face anomalies			ORPHA	0	1933	7881	190198
HP:0010624	HP:0001802	Absent toenail	1	RBPJ CL E G H	3516	974	Brachydactyly small stature face anomalies			ORPHA	0	117	5724	147183
HP:0010624	HP:0001802	Absent toenail	1	RBPJ CL E G H	3516	974	Brachydactyly small stature face anomalies			ORPHA	0	107	5724	147183
HP:0010624	HP:0001800	Hypoplastic toenails	1	RBPJ CL E G H	3516	974	Brachydactyly small stature face anomalies			ORPHA	0	117	5724	147183
HP:0010624	HP:0001800	Hypoplastic toenails	1	RBPJ CL E G H	3516	974	Brachydactyly small stature face anomalies			ORPHA	0	107	5724	147183
HP:0010624	HP:0012555	Absent nail of hallux	2	ARHGAP31 CL E G H	57514	974	Brachydactyly small stature face anomalies			ORPHA	0	210	29216	610911
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	ARHGAP31 CL E G H	57514	974	Brachydactyly small stature face anomalies			ORPHA	0	210	29216	610911
HP:0010624	HP:0012555	Absent nail of hallux	2	ARHGAP31 CL E G H	57514	974	Brachydactyly small stature face anomalies			ORPHA	0	174	29216	610911
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	ARHGAP31 CL E G H	57514	974	Brachydactyly small stature face anomalies			ORPHA	0	174	29216	610911
HP:0010624	HP:0200105	Absent fifth toenail	2	ARHGAP31 CL E G H	57514	974	Brachydactyly small stature face anomalies			ORPHA	0	210	29216	610911
HP:0010624	HP:0200105	Absent fifth toenail	2	ARHGAP31 CL E G H	57514	974	Brachydactyly small stature face anomalies			ORPHA	0	174	29216	610911
HP:0010624	HP:0012555	Absent nail of hallux	2	DLL4 CL E G H	54567	974	Brachydactyly small stature face anomalies			ORPHA	0	109	2910	605185
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	DLL4 CL E G H	54567	974	Brachydactyly small stature face anomalies			ORPHA	0	109	2910	605185
HP:0010624	HP:0012555	Absent nail of hallux	2	DLL4 CL E G H	54567	974	Brachydactyly small stature face anomalies			ORPHA	0	75	2910	605185
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	DLL4 CL E G H	54567	974	Brachydactyly small stature face anomalies			ORPHA	0	75	2910	605185
HP:0010624	HP:0200105	Absent fifth toenail	2	DLL4 CL E G H	54567	974	Brachydactyly small stature face anomalies			ORPHA	0	109	2910	605185
HP:0010624	HP:0200105	Absent fifth toenail	2	DLL4 CL E G H	54567	974	Brachydactyly small stature face anomalies			ORPHA	0	75	2910	605185
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	DOCK6 CL E G H	57572	974	Brachydactyly small stature face anomalies			ORPHA	0	472	19189	614194
HP:0010624	HP:0012555	Absent nail of hallux	2	DOCK6 CL E G H	57572	974	Brachydactyly small stature face anomalies			ORPHA	0	472	19189	614194
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	DOCK6 CL E G H	57572	974	Brachydactyly small stature face anomalies			ORPHA	0	361	19189	614194
HP:0010624	HP:0012555	Absent nail of hallux	2	DOCK6 CL E G H	57572	974	Brachydactyly small stature face anomalies			ORPHA	0	361	19189	614194
HP:0010624	HP:0200105	Absent fifth toenail	2	DOCK6 CL E G H	57572	974	Brachydactyly small stature face anomalies			ORPHA	0	472	19189	614194
HP:0010624	HP:0200105	Absent fifth toenail	2	DOCK6 CL E G H	57572	974	Brachydactyly small stature face anomalies			ORPHA	0	361	19189	614194
HP:0010624	HP:0012555	Absent nail of hallux	2	EOGT CL E G H	285203	974	Brachydactyly small stature face anomalies			ORPHA	0	137	28526	614789
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	EOGT CL E G H	285203	974	Brachydactyly small stature face anomalies			ORPHA	0	137	28526	614789
HP:0010624	HP:0012555	Absent nail of hallux	2	EOGT CL E G H	285203	974	Brachydactyly small stature face anomalies			ORPHA	0	122	28526	614789
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	EOGT CL E G H	285203	974	Brachydactyly small stature face anomalies			ORPHA	0	122	28526	614789
HP:0010624	HP:0200105	Absent fifth toenail	2	EOGT CL E G H	285203	974	Brachydactyly small stature face anomalies			ORPHA	0	137	28526	614789
HP:0010624	HP:0200105	Absent fifth toenail	2	EOGT CL E G H	285203	974	Brachydactyly small stature face anomalies			ORPHA	0	122	28526	614789
HP:0010624	HP:0012555	Absent nail of hallux	2	NOTCH1 CL E G H	4851	974	Brachydactyly small stature face anomalies			ORPHA	0	2158	7881	190198
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	NOTCH1 CL E G H	4851	974	Brachydactyly small stature face anomalies			ORPHA	0	2158	7881	190198
HP:0010624	HP:0012555	Absent nail of hallux	2	NOTCH1 CL E G H	4851	974	Brachydactyly small stature face anomalies			ORPHA	0	1933	7881	190198
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	NOTCH1 CL E G H	4851	974	Brachydactyly small stature face anomalies			ORPHA	0	1933	7881	190198
HP:0010624	HP:0200105	Absent fifth toenail	2	NOTCH1 CL E G H	4851	974	Brachydactyly small stature face anomalies			ORPHA	0	2158	7881	190198
HP:0010624	HP:0200105	Absent fifth toenail	2	NOTCH1 CL E G H	4851	974	Brachydactyly small stature face anomalies			ORPHA	0	1933	7881	190198
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	RBPJ CL E G H	3516	974	Brachydactyly small stature face anomalies			ORPHA	0	117	5724	147183
HP:0010624	HP:0012555	Absent nail of hallux	2	RBPJ CL E G H	3516	974	Brachydactyly small stature face anomalies			ORPHA	0	117	5724	147183
HP:0010624	HP:0011937	Hypoplastic fifth toenail	2	RBPJ CL E G H	3516	974	Brachydactyly small stature face anomalies			ORPHA	0	107	5724	147183
HP:0010624	HP:0012555	Absent nail of hallux	2	RBPJ CL E G H	3516	974	Brachydactyly small stature face anomalies			ORPHA	0	107	5724	147183
HP:0010624	HP:0200105	Absent fifth toenail	2	RBPJ CL E G H	3516	974	Brachydactyly small stature face anomalies			ORPHA	0	117	5724	147183
HP:0010624	HP:0200105	Absent fifth toenail	2	RBPJ CL E G H	3516	974	Brachydactyly small stature face anomalies			ORPHA	0	107	5724	147183

Genes (80) :APC ARHGAP31 ARID1A ARID1B ARID2 ATP6V1B2 BAZ1B BCR CKAP2L CLIP2 COL11A1 COL7A1 CPT2 CRKL CTC1 DKC1 DLL4 DOCK6 DPF2 DPH1 DYNC2LI1 EED ELN EOGT EVC EVC2 EZH2 FGFR1 GDF5 GJB2 GJB6 GLI1 GTF2I GTF2IRD1 HOXA13 HRAS INPPL1 KCNH1 KDM1A LBR LIG4 LIMK1 LMX1B LRP4 MAPK1 MMP1 MSX1 NECTIN4 NHP2 NOG NOP10 NOTCH1 NSD1 NSUN2 PARN PORCN PPP1CB RBPJ RFC2 RIPK4 RTEL1 SHANK3 SHOC2 SHOX SLC35D1 SMARCA4 SMARCB1 SMARCE1 SOX11 SUZ12 TBL2 TBX3 TBX4 TCTN3 TERC TERT TINF2 USB1 WNT7A WRAP53

Diseases (46) :974 3255 1775 228900 186500 240 3258 79499 904 261330 228520 158676 79408 608836 616589 616901 289 3447 615297 952 166250 477 3071 3144 616728 215140 235 2614 2228 613573 305600 2701 1234 48652 606232 616938 3138 238578 2753 228930 1465 614607 618027 2438 611816 615866

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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