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:
Abnormality of the forehead (HP:0000290)

Parent Node:
Abnormality of the metopic suture (HP:0005556)

..Starting node
..Metopic synostosis (HP:0011330)

Term ID:

11330

Name:

Metopic synostosis

Synonym:

Metopic craniosynostosis; Metopic suture craniosynostosis

Definition:

Premature fusion of the metopic suture.

Comments:

Reference:

HP:0011330

Genes and Diseases:

Child Nodes:

Sister Nodes:

Metopic depression (HP:0011223)

Metopic suture patent to nasal root (HP:0005495)

Prominent metopic ridge (HP:0005487)

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:0011330	HP:0011330	Metopic synostosis	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0011330	HP:0011330	Metopic synostosis	0	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0011330	HP:0011330	Metopic synostosis	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0011330	HP:0011330	Metopic synostosis	0	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4		12
HP:0011330	HP:0011330	Metopic synostosis	0	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1		172
HP:0011330	HP:0011330	Metopic synostosis	0	FREM1 CL E G H	158326	23399	OMIM:614485	Trigonocephaly 2	.	198
HP:0011330	HP:0011330	Metopic synostosis	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome	HP:0040283 - Occasional	270
HP:0011330	HP:0011330	Metopic synostosis	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0011330	HP:0011330	Metopic synostosis	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011330	HP:0011330	Metopic synostosis	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040283 - Occasional	16
HP:0011330	HP:0011330	Metopic synostosis	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:0011330	HP:0011330	Metopic synostosis	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:0011330	HP:0011330	Metopic synostosis	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0011330	HP:0011330	Metopic synostosis	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0011330	HP:0011330	Metopic synostosis	0	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0011330	HP:0011330	Metopic synostosis	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0011330	HP:0011330	Metopic synostosis	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3		12
HP:0011330	HP:0011330	Metopic synostosis	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0011330	HP:0011330	Metopic synostosis	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent	665
HP:0011330	HP:0011330	Metopic synostosis	0	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia	HP:0040282 - Frequent	2
HP:0011330	HP:0011330	Metopic synostosis	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0011330	HP:0011330	Metopic synostosis	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2		45
HP:0011330	HP:0011330	Metopic synostosis	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136

Genes (22) :ASXL3 CDK8 DDB1 ERF FGFR1 FREM1 GLI3 GPC3 GPC4 HERC1 HNRNPK IL11RA OTUD5 PCDHGC4 PIGA PIGT PPFIBP1 PTCH1 SIX2 SON TMEM216 WDR35

Diseases (22) :OMIM:615485 OMIM:618748 OMIM:619426 OMIM:600775 OMIM:190440 OMIM:614485 OMIM:175700 OMIM:312870 ORPHA:457359 ORPHA:352665 ORPHA:453504 OMIM:614188 OMIM:301056 OMIM:619880 OMIM:300868 OMIM:615398 OMIM:620024 ORPHA:77301 ORPHA:488437 ORPHA:500150 OMIM:608091 OMIM:613610

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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