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:
Abnormal metatarsal morphology (HP:0001832)

Grandparent Node:
Aplasia/Hypoplasia involving bones of the feet (HP:0006494)

Parent Node:
Abnormality of the fifth metatarsal bone (HP:0008089)

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

..Starting node
..Aplasia/Hypoplasia of the fifth metatarsal bone (HP:0040033)

Term ID:

40033

Name:

Aplasia/Hypoplasia of the fifth metatarsal bone

Synonym:

Absent/small 5th long bone of foot; Absent/underdeveloped 5th long bone of foot

Definition:

Comments:

Reference:

HP:0040033

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent metatarsal bone (HP:0010744)

Short metatarsal (HP:0010743)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040033	HP:0040033	Aplasia/Hypoplasia of the fifth metatarsal bone	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.