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:
Joint dislocation (HP:0001373)

Parent Node:
Abnormality of toe (HP:0001780)

Parent Node:
Lower extremity joint dislocation (HP:0030311)

..Starting node
..Dislocation of toes (HP:0008141)

Term ID:

8141

Name:

Dislocation of toes

Synonym:

Dislocation of toes

Definition:

Comments:

Reference:

HP:0008141

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dislocation of the femoral head (HP:0008826)

Hip dislocation (HP:0002827)

Knee dislocation (HP:0004976)

Patellar dislocation (HP:0002999)

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:0008141	HP:0008141	Dislocation of toes	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.	68

Genes (1) :FHL1

Diseases (1) :OMIM:300280

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