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:
obsolete Abnormality of calvarial morphology (HP:0002648)

Parent Node:
Abnormal parietal bone morphology (HP:0002696)

..Starting node
..Parietal foramina (HP:0002697)

Term ID:

2697

Name:

Parietal foramina

Synonym:

Holes in parietal bones; Openings in parietal bones; Persistent foramina of the parietal bones; Symmetrical, oval defects in the parietal bone; Symmetrical, oval parietal bone defects

Definition:

The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide.

Comments:

Reference:

HP:0002697

Genes and Diseases:

Child Nodes:

Sister Nodes:

obsolete Symmetrical, oval parietal bone defects (HP:0002695)

Parietal bossing (HP:0000242)

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:0002697	HP:0002697	Parietal foramina	0	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina		132
HP:0002697	HP:0002697	Parietal foramina	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2	.	132
HP:0002697	HP:0002697	Parietal foramina	0	ALX4 CL E G H	60529	450	OMIM:609597	Parietal foramina 2	.	132
HP:0002697	HP:0002697	Parietal foramina	0	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040282 - Frequent	132
HP:0002697	HP:0002697	Parietal foramina	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0002697	HP:0002697	Parietal foramina	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0002697	HP:0002697	Parietal foramina	0	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040282 - Frequent	102
HP:0002697	HP:0002697	Parietal foramina	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0002697	HP:0002697	Parietal foramina	0	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina		45
HP:0002697	HP:0002697	Parietal foramina	0	MSX2 CL E G H	4488	7392	OMIM:168500	Parietal foramina	.	45
HP:0002697	HP:0002697	Parietal foramina	0	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia		45
HP:0002697	HP:0002697	Parietal foramina	0	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040282 - Frequent	2
HP:0002697	HP:0002697	Parietal foramina	0	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold		22
HP:0002697	HP:0002697	Parietal foramina	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.	42
HP:0002697	HP:0002697	Parietal foramina	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18

Genes (10) :ALX4 CREBBP EP300 EXT2 FGFR2 MSX2 PHF21A PPM1D RPS19 TWIST1

Diseases (10) :ORPHA:60015 OMIM:613451 OMIM:609597 ORPHA:52022 OMIM:180849 OMIM:101400 OMIM:168500 OMIM:168550 OMIM:617450 OMIM:105650

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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