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:
Aplasia/Hypoplasia of metatarsal bones (HP:0001964)

Parent Node:
Absent metatarsal bone (HP:0010744)

..Starting node
..Absent fifth metatarsal (HP:0008079)

Term ID:

8079

Name:

Absent fifth metatarsal

Synonym:

Absent 5th long bone of foot; Absent 5th metatarsals; Aplasia of the fifth metatarsal bone

Definition:

A developmental abnormality characterized by the absence of the fifth metatarsal bone.

Comments:

Reference:

HP:0008079

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent first metatarsal (HP:0010104)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008079	HP:0008079	Absent fifth metatarsal	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.