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 lower limb epiphysis morphology (HP:0006500)

Grandparent Node:
Abnormality of tibia morphology (HP:0002992)

Parent Node:
Abnormality of tibial epiphyses (HP:0006508)

..Starting node
..Abnormality of the distal tibial epiphysis (HP:0010592)

Term ID:

10592

Name:

Abnormality of the distal tibial epiphysis

Synonym:

Abnormality of the end part of outermost shankbone; Abnormality of the end part of outermost shinbone

Definition:

Comments:

Reference:

HP:0010592

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of the proximal tibial epiphysis (HP:0010591)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010592	HP:0010592	Abnormality of the distal tibial epiphysis	0	CL E G H

Genes (0) :

Diseases (0) :

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