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
..Left unicoronal synostosis (HP:0011316)

Term ID:

11316

Name:

Left unicoronal synostosis

Synonym:

Definition:

Synostosis affecting only the left coronal suture.

Comments:

Reference:

HP:0011316

Genes and Diseases:

Child Nodes:

Sister Nodes:

Right unicoronal synostosis (HP:0011317)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011316	HP:0011316	Left unicoronal synostosis	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2	84
HP:0011316	HP:0011316	Left unicoronal synostosis	0	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3	28

Genes (2) :PIGO TCF12

Diseases (2) :OMIM:614749 OMIM:615314

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.