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)

Parent Node:
Abnormal metatarsal morphology (HP:0001832)

Parent Node:
Abnormality of the epiphyses of the feet (HP:0010631)

..Starting node
..Abnormality of metatarsal epiphysis (HP:0010630)

Term ID:

10630

Name:

Abnormality of metatarsal epiphysis

Synonym:

Abnormality of end part of long bone of foot; Abnormality of the epiphyses of the metatarsals

Definition:

Any abnormality of a metatarsal bone epiphysis.

Comments:

Reference:

HP:0010630

Genes and Diseases:

Child Nodes:

........

Cone-shaped epiphysis of the 1st metatarsal (HP:0010151)

Sister Nodes:

Abnormality of the epiphyses of the toes (HP:0010160)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010630	HP:0010630	Abnormality of metatarsal epiphysis	0	CL E G H
HP:0010630	HP:0041194	Fractured epiphysis of second metatarsal bone	1	CL E G H
HP:0010630	HP:0010151	Cone-shaped epiphysis of the 1st metatarsal	1	CL E G H
HP:0010630	HP:0041195	Fractured epiphysis of third metatarsal bone	1	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.