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
..Fibular overgrowth (HP:0003099)

Term ID:

3099

Name:

Fibular overgrowth

Synonym:

Overgrowth of calf bone

Definition:

Relatively increased growth of the fibula compared to that of the tibia.

Comments:

Reference:

HP:0003099

Genes and Diseases:

Child Nodes:

........

Proximal fibular overgrowth (HP:0005067)

Sister Nodes:

Aplasia/Hypoplasia of the fibula (HP:0006492)

Decreased fibular diameter (HP:0031107)

Fibular bowing (HP:0010502)

Fibular duplication (HP:0010503)

Increased fibular diameter (HP:0012107)

Long fibula (HP:0003085)

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:0003099	HP:0003099	Fibular overgrowth	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0003099	HP:0003099	Fibular overgrowth	0	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040283 - Occasional
HP:0003099	HP:0003099	Fibular overgrowth	0	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type	.
HP:0003099	HP:0003099	Fibular overgrowth	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0003099	HP:0005067	Proximal fibular overgrowth	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.	85

Genes (3) :CANT1 DDRGK1 IHH

Diseases (4) :OMIM:251450 ORPHA:93352 OMIM:602557 OMIM:607778

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