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 cranial sutures (HP:0011329)

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

Parent Node:
Craniosynostosis (HP:0001363)

..Starting node
..Sagittal craniosynostosis (HP:0004442)

Term ID:

4442

Name:

Sagittal craniosynostosis

Synonym:

Craniosynostosis, sagittal; Craniosynostosis, sagittal suture; Early closure of midline skull joint; Midline skull joint closes early; Sagittal suture synostosis

Definition:

A kind of craniosynostosis affecting the sagittal suture.

Comments:

Reference:

HP:0004442

Genes and Diseases:

Child Nodes:

Sister Nodes:

Coronal craniosynostosis (HP:0004440)

Lambdoidal craniosynostosis (HP:0004443)

Multiple suture craniosynostosis (HP:0011324)

Orbital craniosynostosis (HP:0005472)

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:0004442	HP:0004442	Sagittal craniosynostosis	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	5
HP:0004442	HP:0004442	Sagittal craniosynostosis	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0004442	HP:0004442	Sagittal craniosynostosis	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0004442	HP:0004442	Sagittal craniosynostosis	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0004442	HP:0004442	Sagittal craniosynostosis	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040283 - Occasional	3
HP:0004442	HP:0004442	Sagittal craniosynostosis	0	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4		12
HP:0004442	HP:0004442	Sagittal craniosynostosis	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0004442	HP:0004442	Sagittal craniosynostosis	0	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	.	175
HP:0004442	HP:0004442	Sagittal craniosynostosis	0	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	HP:0040283 - Occasional	143
HP:0004442	HP:0004442	Sagittal craniosynostosis	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0004442	HP:0004442	Sagittal craniosynostosis	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0004442	HP:0004442	Sagittal craniosynostosis	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0004442	HP:0004442	Sagittal craniosynostosis	0	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3	HP:0040283 - Occasional	11
HP:0004442	HP:0004442	Sagittal craniosynostosis	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies	.	8
HP:0004442	HP:0004442	Sagittal craniosynostosis	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0004442	HP:0004442	Sagittal craniosynostosis	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0004442	HP:0004442	Sagittal craniosynostosis	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0004442	HP:0004442	Sagittal craniosynostosis	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0004442	HP:0004442	Sagittal craniosynostosis	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0004442	HP:0004442	Sagittal craniosynostosis	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	271
HP:0004442	HP:0004442	Sagittal craniosynostosis	0	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3		28
HP:0004442	HP:0004442	Sagittal craniosynostosis	0	TWIST1 CL E G H	7291	12428	OMIM:123100	Craniosynostosis 1		18
HP:0004442	HP:0004442	Sagittal craniosynostosis	0	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4	HP:0040283 - Occasional	95

Genes (21) :ATP6V1B2 CDC45 DNMT3A DPF2 DPH1 ERF FGFR2 GLIS3 HNRNPK IFT122 IFT43 IL11RA KRAS RAB23 RECQL4 SON SPECC1L TBC1D24 TCF12 TWIST1 WDR19

Diseases (22) :ORPHA:79500 OMIM:617063 OMIM:615879 OMIM:618027 ORPHA:459061 OMIM:600775 OMIM:101200 OMIM:123500 OMIM:610199 ORPHA:352665 ORPHA:453504 OMIM:218330 OMIM:614099 OMIM:614188 OMIM:609942 OMIM:201000 OMIM:218600 ORPHA:500150 OMIM:145420 OMIM:615314 OMIM:123100 OMIM:614378

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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