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:
Craniosynostosis (HP:0001363)

Parent Node:
Multiple suture craniosynostosis (HP:0011324)

..Starting node
..Pansynostosis (HP:0011325)

Term ID:

11325

Name:

Pansynostosis

Synonym:

Sysnostosis of all cranial sutures

Definition:

Craniosynostosis of all calvarial sutures.

Comments:

Reference:

HP:0011325

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0011325	HP:0011325	Pansynostosis	0	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4	HP:0040283 - Occasional	12

Genes (1) :ERF

Diseases (1) :OMIM:600775

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