Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Aplasia/Hypoplasia of toe (HP:0001991)

Grandparent Node:
Short digit (HP:0011927)

Parent Node:
Aplasia/Hypoplasia of the hallux (HP:0008362)

Parent Node:
Short toe (HP:0001831)

..Starting node
..Short hallux (HP:0010109)

Term ID:

10109

Name:

Short hallux

Synonym:

Hypoplastic big toes; Hypoplastic hallux; Short big toe; Short halluces; Small hallux

Definition:

Underdevelopment (hypoplasia) of the big toe.

Comments:

Reference:

HP:0010109

Genes and Diseases:

Child Nodes:

........

Short phalanx of hallux (HP:0010111)

................... HP:0010103 Short distal phalanx of hallux
................... HP:0010107 Short proximal phalanx of hallux

Sister Nodes:

Short 2nd toe (HP:0001885)

Short 3rd toe (HP:0005643)

Short 4th toe (HP:0008093)

Short 5th toe (HP:0011917)

Short middle phalanx of toe (HP:0003795)

Short proximal phalanx of toe (HP:0011928)

Shortening of all phalanges of the toes (HP:0005035)

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:0010109	HP:0010109	Short hallux	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0010109	HP:0010109	Short hallux	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	254
HP:0010109	HP:0010109	Short hallux	0	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.	49
HP:0010109	HP:0010109	Short hallux	0	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva	HP:0040281 - Very frequent	49
HP:0010109	HP:0010109	Short hallux	0	BHLHA9 CL E G H	727857	35126	ORPHA:157801	Mesoaxial synostotic syndactyly with phalangeal reduction	HP:0040281 - Very frequent	4
HP:0010109	HP:0010109	Short hallux	0	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2	.	13
HP:0010109	HP:0010109	Short hallux	0	BMPR1B CL E G H	658	1077	ORPHA:93388	Brachydactyly type A1	HP:0040281 - Very frequent	90
HP:0010109	HP:0010109	Short hallux	0	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2	.	90
HP:0010109	HP:0010109	Short hallux	0	CHST11 CL E G H	50515	17422	OMIM:618167	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits	.	1
HP:0010109	HP:0010109	Short hallux	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional	16
HP:0010109	HP:0010109	Short hallux	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	1
HP:0010109	HP:0010109	Short hallux	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0010109	HP:0010109	Short hallux	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0010109	HP:0010109	Short hallux	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0010109	HP:0010109	Short hallux	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0010109	HP:0010109	Short hallux	0	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040281 - Very frequent	172
HP:0010109	HP:0010109	Short hallux	0	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040281 - Very frequent	175
HP:0010109	HP:0010109	Short hallux	0	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040281 - Very frequent	175
HP:0010109	HP:0010109	Short hallux	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040281 - Very frequent	175
HP:0010109	HP:0010109	Short hallux	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0010109	HP:0010109	Short hallux	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0010109	HP:0010109	Short hallux	0	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1	HP:0040281 - Very frequent	493
HP:0010109	HP:0010109	Short hallux	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040281 - Very frequent	493
HP:0010109	HP:0010109	Short hallux	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0010109	HP:0010109	Short hallux	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0010109	HP:0010109	Short hallux	0	GDF5 CL E G H	8200	4220	ORPHA:93388	Brachydactyly type A1	HP:0040281 - Very frequent	52
HP:0010109	HP:0010109	Short hallux	0	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2	.	52
HP:0010109	HP:0010109	Short hallux	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional	68
HP:0010109	HP:0010109	Short hallux	0	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome	HP:0040281 - Very frequent
HP:0010109	HP:0010109	Short hallux	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0010109	HP:0010109	Short hallux	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040281 - Very frequent	11
HP:0010109	HP:0010109	Short hallux	0	IHH CL E G H	3549	5956	ORPHA:93388	Brachydactyly type A1	HP:0040281 - Very frequent	44
HP:0010109	HP:0010109	Short hallux	0	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0010109	HP:0010109	Short hallux	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0010109	HP:0010109	Short hallux	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	23
HP:0010109	HP:0010109	Short hallux	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0010109	HP:0010109	Short hallux	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0010109	HP:0010109	Short hallux	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.	33
HP:0010109	HP:0010109	Short hallux	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0010109	HP:0010109	Short hallux	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0010109	HP:0010109	Short hallux	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	118
HP:0010109	HP:0010109	Short hallux	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0010109	HP:0010109	Short hallux	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	7
HP:0010109	HP:0010109	Short hallux	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0010109	HP:0010109	Short hallux	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040282 - Frequent	86
HP:0010109	HP:0010109	Short hallux	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0010109	HP:0010111	Short phalanx of hallux	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0010109	HP:0010111	Short phalanx of hallux	1	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0010109	HP:0010111	Short phalanx of hallux	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0010109	HP:0010103	Short distal phalanx of hallux	2	CL E G H
HP:0010109	HP:0010107	Short proximal phalanx of hallux	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040281 - Very frequent	111
HP:0010109	HP:0010107	Short proximal phalanx of hallux	2	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0010109	HP:0010107	Short proximal phalanx of hallux	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040281 - Very frequent	6

Genes (31) :ABCC9 ACVR1 BHLHA9 BMP2 BMPR1B CHST11 CHSY1 CPLX1 CTBP1 EIF4A3 FGFR1 FGFR2 FGFRL1 FIG4 FLNA GDF5 GJA1 GPC4 HOXA13 IHH KAT6A KCNJ8 LETM1 MGP NELFA NOG NSD2 PIGG PUF60 SALL4 VAC14

Diseases (30) :OMIM:239850 ORPHA:1517 OMIM:135100 ORPHA:337 ORPHA:157801 OMIM:112600 ORPHA:93388 OMIM:618167 ORPHA:363417 ORPHA:280 OMIM:194190 OMIM:268305 ORPHA:93258 ORPHA:93259 ORPHA:93260 ORPHA:3472 ORPHA:90650 ORPHA:90652 OMIM:311300 OMIM:304120 ORPHA:2710 ORPHA:2662 OMIM:140000 ORPHA:2438 OMIM:112500 OMIM:616268 OMIM:245150 OMIM:186500 ORPHA:508488 ORPHA:959

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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