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 hip bone morphology (HP:0003272)

Parent Node:
Abnormality of the ischium (HP:0003174)

Parent Node:
Abnormality of the pubic bone (HP:0003172)

..Starting node
..Narrow foramen obturatorium (HP:0100958)

Term ID:

100958

Name:

Narrow foramen obturatorium

Synonym:

Definition:

Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis.

Comments:

Reference:

HP:0100958

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal ossification of the pubic bone (HP:0009105)

Aplasia/Hypoplasia of the pubic bone (HP:0009104)

Wide pubic symphysis (HP:0003183)

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:0100958	HP:0100958	Narrow foramen obturatorium	0	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent	11
HP:0100958	HP:0100958	Narrow foramen obturatorium	0	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040281 - Very frequent	11
HP:0100958	HP:0100958	Narrow foramen obturatorium	0	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent
HP:0100958	HP:0100958	Narrow foramen obturatorium	0	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040281 - Very frequent
HP:0100958	HP:0100958	Narrow foramen obturatorium	0	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent
HP:0100958	HP:0100958	Narrow foramen obturatorium	0	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040281 - Very frequent
HP:0100958	HP:0100958	Narrow foramen obturatorium	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent	2
HP:0100958	HP:0100958	Narrow foramen obturatorium	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040281 - Very frequent	2
HP:0100958	HP:0100958	Narrow foramen obturatorium	0	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent	4
HP:0100958	HP:0100958	Narrow foramen obturatorium	0	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040281 - Very frequent	4
HP:0100958	HP:0100958	Narrow foramen obturatorium	0	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040281 - Very frequent

Genes (6) :CAV1 CCN2 CCR6 HLA-DRB1 IRF5 KIAA0319L

Diseases (2) :ORPHA:220393 ORPHA:220402

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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