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:
Abnormal calvaria morphology (HP:0002683)

Parent Node:
obsolete Abnormality of calvarial morphology (HP:0002648)

..Starting node
..Platybasia (HP:0002691)

Term ID:

2691

Name:

Platybasia

Synonym:

Flattening of the skull base; Increased basal angle of skull base; Obtuse basal angle of skull base

Definition:

A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base.

Comments:

Reference:

HP:0002691

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal parietal bone morphology (HP:0002696)

Abnormal shape of the frontal region (HP:0011218)

Abnormal shape of the occiput (HP:0011217)

Acrania (HP:0030716)

Biparietal narrowing (HP:0004422)

Brachycephaly (HP:0000248)

Broad skull (HP:0002682)

Calvarial skull defect (HP:0001362)

Cloverleaf skull (HP:0002676)

Cranial asymmetry (HP:0000267)

Craniosynostosis (HP:0001363)

Dolichocephaly (HP:0000268)

Obliteration of the calvarial diploe (HP:0030312)

Plagiocephaly (HP:0001357)

Skull asymmetry (HP:0002678)

Trigonocephaly (HP:0000243)

Turricephaly (HP:0000262)

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:0002691	HP:0002691	Platybasia	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	1
HP:0002691	HP:0002691	Platybasia	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.	373
HP:0002691	HP:0002691	Platybasia	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.	243
HP:0002691	HP:0002691	Platybasia	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	6
HP:0002691	HP:0002691	Platybasia	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0002691	HP:0002691	Platybasia	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	8
HP:0002691	HP:0002691	Platybasia	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	3
HP:0002691	HP:0002691	Platybasia	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	2
HP:0002691	HP:0002691	Platybasia	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0002691	HP:0002691	Platybasia	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040282 - Frequent	138
HP:0002691	HP:0002691	Platybasia	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0002691	HP:0002691	Platybasia	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0002691	HP:0002691	Platybasia	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0002691	HP:0002691	Platybasia	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0002691	HP:0002691	Platybasia	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type	.
HP:0002691	HP:0002691	Platybasia	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	32
HP:0002691	HP:0002691	Platybasia	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent

Genes (17) :ARVCF COL1A1 COL1A2 COMT FLNB GP1BB HIRA JMJD1C LBR NOTCH2 NOTCH3 RREB1 SEC24C SH2B1 SIK3 TBX1 UFD1

Diseases (8) :ORPHA:567 OMIM:259420 OMIM:272460 OMIM:618019 ORPHA:955 OMIM:130720 ORPHA:261197 OMIM:618162

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