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 the calf (HP:0002981)

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

Parent Node:
Abnormality of fibula morphology (HP:0002991)

..Starting node
..Long fibula (HP:0003085)

Term ID:

3085

Name:

Long fibula

Synonym:

Disproportionately long fibula; Long calf bone; Long fibula

Definition:

Disproportionately long fibulae.

Comments:

Reference:

HP:0003085

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia/Hypoplasia of the fibula (HP:0006492)

Decreased fibular diameter (HP:0031107)

Fibular bowing (HP:0010502)

Fibular duplication (HP:0010503)

Fibular overgrowth (HP:0003099)

Increased fibular diameter (HP:0012107)

Serpentine fibula (HP:0030045)

Synostosis involving the fibula (HP:0005928)

Tibiofibular diastasis (HP:0100535)

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:0003085	HP:0003085	Long fibula	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.	7
HP:0003085	HP:0003085	Long fibula	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0003085	HP:0003085	Long fibula	0	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.	3
HP:0003085	HP:0003085	Long fibula	0	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type	HP:0040281 - Very frequent	3
HP:0003085	HP:0003085	Long fibula	0	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.	8

Genes (4) :BGN DDR2 GPX4 NANS

Diseases (5) :OMIM:300106 OMIM:271665 OMIM:250220 ORPHA:93317 OMIM:610442

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