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:
Abnormal morphology of phalanx of the 2nd toe (HP:0010324)

Grandparent Node:
Symphalangism affecting the phalanges of the toes (HP:0010179)

Grandparent Node:
Synostosis involving bones of the toes (HP:0100235)

Parent Node:
Abnormal morphology of the proximal phalanx of the 2nd toe (HP:0010358)

Parent Node:
Second toe symphalangism (HP:0010353)

..Starting node
..Symphalangism affecting the proximal phalanx of the 2nd toe (HP:0010401)

Term ID:

10401

Name:

Symphalangism affecting the proximal phalanx of the 2nd toe

Synonym:

Fused innermost bone of the 2nd toe

Definition:

Comments:

Reference:

HP:0010401

Genes and Diseases:

Child Nodes:

........

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

........

Proximal/middle symphalangism of 2nd toe (HP:0100489)

Sister Nodes:

Symphalangism affecting the middle phalanx of the 2nd toe (HP:0010410)

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:0010401	HP:0010401	Symphalangism affecting the proximal phalanx of the 2nd toe	0	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome	2
HP:0010401	HP:0100489	Proximal/middle symphalangism of 2nd toe	1	CL E G H
HP:0010401	HP:0100483	Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal	1	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.