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 hallux (HP:0001844)

Grandparent Node:
Foot polydactyly (HP:0001829)

Grandparent Node:
Preaxial polydactyly (HP:0100258)

Parent Node:
Preaxial foot polydactyly (HP:0001841)

..Starting node
..Polysyndactyly of hallux (HP:0005873)

Term ID:

5873

Name:

Polysyndactyly of hallux

Synonym:

Polysyndactyly of big toe; Polysyndactyly of great toe

Definition:

Combined syndactyly and polydactyly of the great toe.

Comments:

Reference:

HP:0005873

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0005873	HP:0005873	Polysyndactyly of hallux	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional	101
HP:0005873	HP:0005873	Polysyndactyly of hallux	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	.	101

Genes (1) :NEK1

Diseases (2) :ORPHA:2751 OMIM:263520

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