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 long bone morphology (HP:0011314)

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

Parent Node:
Broad long bones (HP:0005622)

..Starting node
..Increased fibular diameter (HP:0012107)

Term ID:

12107

Name:

Increased fibular diameter

Synonym:

Thick fibula; Thick fibulae; Wide calf bone; Wide fibula

Definition:

Increased width of the cross sectional diameter of the fibula.

Comments:

Reference:

HP:0012107

Genes and Diseases:

Child Nodes:

Sister Nodes:

Broad phalanx (HP:0006009)

Broad radius (HP:0003981)

Broad ulna (HP:0003993)

Wide humerus (HP:0003886)

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:0012107	HP:0012107	Increased fibular diameter	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0012107	HP:0012107	Increased fibular diameter	0	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent	18
HP:0012107	HP:0012107	Increased fibular diameter	0	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent	9

Genes (3) :GPC6 INPPL1 SLC35D1

Diseases (2) :OMIM:258315 ORPHA:3144

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