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:
Polydactyly (HP:0010442)

Parent Node:
Abnormality of the hallux (HP:0001844)

Parent Node:
Foot polydactyly (HP:0001829)

Parent Node:
Preaxial polydactyly (HP:0100258)

..Starting node
..Preaxial foot polydactyly (HP:0001841)

Term ID:

1841

Name:

Preaxial foot polydactyly

Synonym:

Partial/complete duplication of the phalanges of the big toe; Polydactyly affecting the hallux; Preaxial hallucal polydactyly; Preaxial polydactyly of feet; Preaxial polydactyly of foot; Preaxial polydactyly of the feet; Preaxial polydactyly, feet

Definition:

Duplication of all or part of the first ray.

Comments:

Reference:

HP:0001841

Genes and Diseases:

Child Nodes:

........

Polysyndactyly of hallux (HP:0005873)

Sister Nodes:

Preaxial hand polydactyly (HP:0001177)

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:0001841	HP:0001841	Preaxial foot polydactyly	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0001841	HP:0001841	Preaxial foot polydactyly	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0001841	HP:0001841	Preaxial foot polydactyly	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0001841	HP:0001841	Preaxial foot polydactyly	0	FGFR2 CL E G H	2263	3689	ORPHA:1540	Jackson-Weiss syndrome	HP:0040283 - Occasional	175
HP:0001841	HP:0001841	Preaxial foot polydactyly	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001841	HP:0001841	Preaxial foot polydactyly	0	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome	HP:0040281 - Very frequent	270
HP:0001841	HP:0001841	Preaxial foot polydactyly	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0001841	HP:0001841	Preaxial foot polydactyly	0	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1	HP:0040283 - Occasional	25
HP:0001841	HP:0001841	Preaxial foot polydactyly	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0001841	HP:0001841	Preaxial foot polydactyly	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0001841	HP:0001841	Preaxial foot polydactyly	0	KIF7 CL E G H	374654	30497	OMIM:614120	Hydrolethalus syndrome 2		167
HP:0001841	HP:0001841	Preaxial foot polydactyly	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0001841	HP:0001841	Preaxial foot polydactyly	0	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome	HP:0040281 - Very frequent	106
HP:0001841	HP:0001841	Preaxial foot polydactyly	0	LMBR1 CL E G H	64327	13243	OMIM:174500	Polydactyly, preaxial II		106
HP:0001841	HP:0001841	Preaxial foot polydactyly	0	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome	HP:0040282 - Frequent	13
HP:0001841	HP:0001841	Preaxial foot polydactyly	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040282 - Frequent	101
HP:0001841	HP:0001841	Preaxial foot polydactyly	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly		101
HP:0001841	HP:0001841	Preaxial foot polydactyly	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0001841	HP:0001841	Preaxial foot polydactyly	0	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF		8
HP:0001841	HP:0001841	Preaxial foot polydactyly	0	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome	HP:0040282 - Frequent	31
HP:0001841	HP:0001841	Preaxial foot polydactyly	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0001841	HP:0001841	Preaxial foot polydactyly	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0001841	HP:0001841	Preaxial foot polydactyly	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040281 - Very frequent	5
HP:0001841	HP:0005873	Polysyndactyly of hallux	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional	101
HP:0001841	HP:0005873	Polysyndactyly of hallux	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	.	101

Genes (18) :CPLANE1 CPLX1 CTBP1 FGFR2 FGFRL1 GLI3 HOXD13 IFT172 KIF7 LETM1 LMBR1 MEGF8 NEK1 NSD2 PITX1 RAB23 SMO ZSWIM6

Diseases (18) :OMIM:277170 OMIM:194190 ORPHA:1540 ORPHA:380 OMIM:175700 OMIM:186000 OMIM:619471 OMIM:200990 OMIM:614120 ORPHA:2378 OMIM:174500 ORPHA:65759 ORPHA:2751 OMIM:263520 OMIM:119800 OMIM:201000 OMIM:601707 ORPHA:1827

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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