Human Phenotype Ontology

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 the phalanges of the 4th toe (HP:0010336)

Grandparent Node:
Triangular shaped phalanges of the toes (HP:0010180)

Parent Node:
Metatarsal synostosis (HP:0001440)

Parent Node:
Symphalangism affecting the proximal phalanx of the 2nd toe (HP:0010401)

Parent Node:
Triangular shaped phalanges of the 4th toe (HP:0010378)

..Starting node
..Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal (HP:0100483)

Term ID:

100483

Name:

Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal

Synonym:

Fused innermost bone of 2nd toe with the 2nd long bone of foot

Definition:

Comments:

Reference:

HP:0100483

Genes and Diseases:

Child Nodes:

Sister Nodes:

Proximal/middle symphalangism of 3rd toe (HP:0100480)

Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal (HP:0100486)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100483	HP:0100483	Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal	0	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome	2

Genes (1) :MAP3K20

Diseases (1) :ORPHA:488232

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