Human Phenotype Ontology

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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:
Coronal craniosynostosis (HP:0004440)

Parent Node:
Unicoronal synostosis (HP:0011315)

..Starting node
..Right unicoronal synostosis (HP:0011317)

Term ID:

11317

Name:

Right unicoronal synostosis

Synonym:

Definition:

Unicoronal synostosis affecting only the right coronal suture.

Comments:

Reference:

HP:0011317

Genes and Diseases:

Child Nodes:

Sister Nodes:

Left unicoronal synostosis (HP:0011316)

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:0011317	HP:0011317	Right unicoronal synostosis	0	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3		28
HP:0011317	HP:0011317	Right unicoronal synostosis	0	TWIST1 CL E G H	7291	12428	OMIM:123100	Craniosynostosis 1		18
HP:0011317	HP:0011317	Right unicoronal synostosis	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare	362
HP:0011317	HP:0011317	Right unicoronal synostosis	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040284 - Very rare	362

Genes (3) :TCF12 TWIST1 ZEB2

Diseases (4) :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.