Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
obsolete Abnormality of calvarial morphology (HP:0002648)

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

..Starting node
..Parietal bossing (HP:0000242)

Term ID:

242

Name:

Parietal bossing

Synonym:

Biparietal bossing; Bossing of parietal bone

Definition:

Parietal bossing is a marked prominence in the parietal region.

Comments:

Reference:

HP:0000242

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

Parietal foramina (HP:0002697)

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:0000242	HP:0000242	Parietal bossing	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040282 - Frequent	145
HP:0000242	HP:0000242	Parietal bossing	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0000242	HP:0000242	Parietal bossing	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	HP:0040283 - Occasional	196
HP:0000242	HP:0000242	Parietal bossing	0	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF		32
HP:0000242	HP:0000242	Parietal bossing	0	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0000242	HP:0000242	Parietal bossing	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0000242	HP:0000242	Parietal bossing	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome	.	665
HP:0000242	HP:0000242	Parietal bossing	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7	.	665
HP:0000242	HP:0000242	Parietal bossing	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome	.	40
HP:0000242	HP:0000242	Parietal bossing	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.	291
HP:0000242	HP:0000242	Parietal bossing	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0000242	HP:0000242	Parietal bossing	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome	.	124

Genes (10) :FGFR3 FIG4 KRAS MPDU1 POLR3A PTCH1 PTCH2 PTPN11 RUNX2 SUFU

Diseases (10) :ORPHA:15 OMIM:216340 OMIM:600268 OMIM:609180 ORPHA:79323 OMIM:264090 OMIM:109400 OMIM:610828 OMIM:151100 OMIM:119600

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen