Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Bowing of the long bones (HP:0006487)

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

Parent Node:
Bowing of the legs (HP:0002979)

..Starting node
..Fibular bowing (HP:0010502)

Term ID:

10502

Name:

Fibular bowing

Synonym:

Bowed calf bone

Definition:

A bending or abnormal curvature of the fibula.

Comments:

Reference:

HP:0010502

Genes and Diseases:

Child Nodes:

Sister Nodes:

Femoral bowing (HP:0002980)

Genu valgum (HP:0002857)

Genu varum (HP:0002970)

Tibial bowing (HP:0002982)

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:0010502	HP:0010502	Fibular bowing	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0010502	HP:0010502	Fibular bowing	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.	112
HP:0010502	HP:0010502	Fibular bowing	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.	112
HP:0010502	HP:0010502	Fibular bowing	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040283 - Occasional	222
HP:0010502	HP:0010502	Fibular bowing	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0010502	HP:0010502	Fibular bowing	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.	5
HP:0010502	HP:0010502	Fibular bowing	0	FGFR3 CL E G H	2261	3690	ORPHA:85165	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome	HP:0040282 - Frequent	145
HP:0010502	HP:0010502	Fibular bowing	0	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.	217
HP:0010502	HP:0010502	Fibular bowing	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0010502	HP:0010502	Fibular bowing	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104

Genes (9) :CILK1 CLCN5 COL11A2 CYP27B1 CYP2R1 FGFR3 PHEX SLC34A3 VDR

Diseases (10) :OMIM:612651 OMIM:300009 OMIM:300554 ORPHA:1427 OMIM:264700 OMIM:600081 ORPHA:85165 OMIM:307800 OMIM:241530 OMIM:277440

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

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