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:
Abnormality of limb bone morphology (HP:0002813)

Parent Node:
Abnormal foot morphology (HP:0001760)

Parent Node:
Ectrodactyly (HP:0100257)

..Starting node
..Split foot (HP:0001839)

Term ID:

1839

Name:

Split foot

Synonym:

Foot ectrodactyly; Lobster-claw foot deformity; Split foot; Split-foot

Definition:

A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.

Comments:

Reference:

HP:0001839

Genes and Diseases:

Child Nodes:

Sister Nodes:

Split hand (HP:0001171)

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:0001839	HP:0001839	Split foot	0	DLX5 CL E G H	1749	2918	OMIM:183600	Split-Hand/foot malformation 1	HP:0040281 - Very frequent	3
HP:0001839	HP:0001839	Split foot	0	DLX5 CL E G H	1749	2918	OMIM:220600	Split-Hand/foot malformation 1 with sensorineural hearing loss	.	3
HP:0001839	HP:0001839	Split foot	0	FGFR2 CL E G H	2263	3689	ORPHA:1540	Jackson-Weiss syndrome	HP:0040283 - Occasional	175
HP:0001839	HP:0001839	Split foot	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional	270
HP:0001839	HP:0001839	Split foot	0	MAP3K20 CL E G H	51776	17797	OMIM:616890	Split-Foot malformation with mesoaxial polydactyly		2
HP:0001839	HP:0001839	Split foot	0	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome		2
HP:0001839	HP:0001839	Split foot	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent	20
HP:0001839	HP:0001839	Split foot	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0001839	HP:0001839	Split foot	0	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.	140
HP:0001839	HP:0001839	Split foot	0	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome	HP:0040281 - Very frequent	140
HP:0001839	HP:0001839	Split foot	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0001839	HP:0001839	Split foot	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040281 - Very frequent	140
HP:0001839	HP:0001839	Split foot	0	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome	.	140
HP:0001839	HP:0001839	Split foot	0	TP63 CL E G H	8626	15979	OMIM:605289	Split-Hand/foot malformation 4	.	140
HP:0001839	HP:0001839	Split foot	0	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0001839	HP:0001839	Split foot	0	WNT10B CL E G H	7480	12775	OMIM:225300	SPLIT-HAND/FOOT MALFORMATION 6; SHFM6		4

Genes (8) :DLX5 FGFR2 GLI3 MAP3K20 PORCN TP63 UBA2 WNT10B

Diseases (16) :OMIM:183600 OMIM:220600 ORPHA:1540 ORPHA:93322 OMIM:616890 ORPHA:488232 ORPHA:2092 OMIM:305600 OMIM:103285 ORPHA:978 OMIM:604292 ORPHA:1896 OMIM:603543 OMIM:605289 OMIM:619959 OMIM:225300

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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