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 toe (HP:0001780)

Grandparent Node:
Syndactyly (HP:0001159)

Parent Node:
Toe syndactyly (HP:0001770)

..Starting node
..4-5 toe syndactyly (HP:0004692)

Term ID:

4692

Name:

4-5 toe syndactyly

Synonym:

Symmetric syndactyly, toes 4 and 5; Syndactyly of toes 4 and 5; Webbed 4th-5th toes

Definition:

Syndactyly with fusion of toes four and five.

Comments:

Reference:

HP:0004692

Genes and Diseases:

Child Nodes:

Sister Nodes:

1-2 toe syndactyly (HP:0010711)

1-3 toe syndactyly (HP:0001459)

1-4 toe syndactyly (HP:0010712)

1-5 toe syndactyly (HP:0010713)

2-3 toe syndactyly (HP:0004691)

2-4 toe syndactyly (HP:0010714)

2-5 toe syndactyly (HP:0010715)

3-4 toe syndactyly (HP:0009779)

3-5 toe syndactyly (HP:0010716)

Cutaneous syndactyly of toes (HP:0010621)

Osseous syndactyly of toes (HP:0010717)

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:0004692	HP:0004692	4-5 toe syndactyly	0	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V	.	25
HP:0004692	HP:0004692	4-5 toe syndactyly	0	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1	.	25
HP:0004692	HP:0004692	4-5 toe syndactyly	0	MAP3K20 CL E G H	51776	17797	OMIM:616890	Split-Foot malformation with mesoaxial polydactyly		2
HP:0004692	HP:0004692	4-5 toe syndactyly	0	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome		2
HP:0004692	HP:0004692	4-5 toe syndactyly	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1		35
HP:0004692	HP:0004692	4-5 toe syndactyly	0	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040282 - Frequent	35
HP:0004692	HP:0004692	4-5 toe syndactyly	0	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1		7
HP:0004692	HP:0004692	4-5 toe syndactyly	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0004692	HP:0004692	4-5 toe syndactyly	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5		84
HP:0004692	HP:0004692	4-5 toe syndactyly	0	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome	.	68
HP:0004692	HP:0004692	4-5 toe syndactyly	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0004692	HP:0004692	4-5 toe syndactyly	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.	5
HP:0004692	HP:0004692	4-5 toe syndactyly	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040282 - Frequent	12
HP:0004692	HP:0004692	4-5 toe syndactyly	0	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20		33

Genes (11) :HOXD13 MAP3K20 MYCN NECTIN4 NSDHL NSUN2 RBBP8 SALL1 TBX15 TELO2 TMEM231

Diseases (14) :OMIM:186300 OMIM:186000 OMIM:616890 ORPHA:488232 OMIM:164280 ORPHA:391641 OMIM:613573 OMIM:308050 OMIM:611091 OMIM:251255 OMIM:107480 OMIM:260660 ORPHA:488642 OMIM:614970

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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