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:
Craniosynostosis (HP:0001363)

Parent Node:
Coronal craniosynostosis (HP:0004440)

..Starting node
..Unicoronal synostosis (HP:0011315)

Term ID:

11315

Name:

Unicoronal synostosis

Synonym:

Unilateral coronal craniosynostosis; Unilateral coronal suture craniosynostosis; Unilateral coronal suture synostosis

Definition:

Synostosis affecting only one of the coronal sutures.

Comments:

Reference:

HP:0011315

Genes and Diseases:

Child Nodes:

........

Left unicoronal synostosis (HP:0011316)

........

Right unicoronal synostosis (HP:0011317)

Sister Nodes:

Bicoronal synostosis (HP:0011318)

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:0011315	HP:0011315	Unicoronal synostosis	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.	7
HP:0011315	HP:0011315	Unicoronal synostosis	0	MSX2 CL E G H	4488	7392	OMIM:604757	Craniosynostosis 2	.	45
HP:0011315	HP:0011315	Unicoronal synostosis	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0011315	HP:0011315	Unicoronal synostosis	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0011315	HP:0011315	Unicoronal synostosis	0	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3		28
HP:0011315	HP:0011315	Unicoronal synostosis	0	TWIST1 CL E G H	7291	12428	OMIM:123100	Craniosynostosis 1		18
HP:0011315	HP:0011315	Unicoronal synostosis	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0011315	HP:0011315	Unicoronal synostosis	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0011315	HP:0011316	Left unicoronal synostosis	1	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0011315	HP:0011316	Left unicoronal synostosis	1	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3		28
HP:0011315	HP:0011317	Right unicoronal synostosis	1	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3		28
HP:0011315	HP:0011317	Right unicoronal synostosis	1	TWIST1 CL E G H	7291	12428	OMIM:123100	Craniosynostosis 1		18
HP:0011315	HP:0011317	Right unicoronal synostosis	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare	362
HP:0011315	HP:0011317	Right unicoronal synostosis	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040284 - Very rare	362

Genes (7) :CEP120 MSX2 PIGO SMO TCF12 TWIST1 ZEB2

Diseases (8) :OMIM:616300 OMIM:604757 OMIM:614749 OMIM:601707 OMIM:615314 OMIM:123100 ORPHA:261552 ORPHA:261537

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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