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)

Grandparent Node:
obsolete Abnormal morphology of bones of the lower limbs (HP:0040066)

Grandparent Node:
Short long bone (HP:0003026)

Parent Node:
Abnormality of the third metatarsal bone (HP:0010672)

Parent Node:
Short metatarsal (HP:0010743)

..Starting node
..Short third metatarsal (HP:0004686)

Term ID:

4686

Name:

Short third metatarsal

Synonym:

Hypoplasia of the 3rd metatarsal bone; Short 3rd long bone of foot

Definition:

Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone.

Comments:

Reference:

HP:0004686

Genes and Diseases:

Child Nodes:

Sister Nodes:

Short fifth metatarsal (HP:0004704)

Short first metatarsal (HP:0010105)

Short fourth metatarsal (HP:0004689)

Short second metatarsal (HP:0011845)

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:0004686	HP:0004686	Short third metatarsal	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040284 - Very rare	12

Genes (1) :HINT1

Diseases (1) :ORPHA:324442

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