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 the fibula (HP:0006492)

Grandparent Node:
Short long bone (HP:0003026)

Parent Node:
Fibular hypoplasia (HP:0003038)

..Starting node
..Hypoplasia of proximal fibula (HP:0006442)

Term ID:

6442

Name:

Hypoplasia of proximal fibula

Synonym:

Small innermost upper end of calf bone; Underdeveloped innermost upper end of calf bone

Definition:

Underdevelopment or shortening of the end of the fibula (calf bone) nearest the knee.

Comments:

Reference:

HP:0006442

Genes and Diseases:

Child Nodes:

Sister Nodes:

Rudimentary fibula (HP:0006381)

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:0006442	HP:0006442	Hypoplasia of proximal fibula	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168

Genes (1) :ATR

Diseases (1) :OMIM:210600

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