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 toe (HP:0001780)

Parent Node:
Abnormality of the 2nd toe (HP:0010319)

Parent Node:
Broad toe (HP:0001837)

..Starting node
..Broad 2nd toe (HP:0100040)

Term ID:

100040

Name:

Broad 2nd toe

Synonym:

Wide 2nd toe

Definition:

A broad appearance of the second toe.

Comments:

Reference:

HP:0100040

Genes and Diseases:

Child Nodes:

Sister Nodes:

Broad 3rd toe (HP:0100041)

Broad 4th toe (HP:0100042)

Broad 5th toe (HP:0100043)

Broad hallux (HP:0010055)

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:0100040	HP:0100040	Broad 2nd toe	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	36
HP:0100040	HP:0100040	Broad 2nd toe	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	146

Genes (2) :PIGL SMARCA2

Diseases (2) :OMIM:280000 OMIM:601358

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