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:
Abnormality of cranial sutures (HP:0011329)

Grandparent Node:
obsolete Abnormality of calvarial morphology (HP:0002648)

Parent Node:
Abnormal morphology of bony orbit of skull (HP:3000030)

Parent Node:
Craniosynostosis (HP:0001363)

..Starting node
..Orbital craniosynostosis (HP:0005472)

Term ID:

5472

Name:

Orbital craniosynostosis

Synonym:

Definition:

Comments:

Reference:

HP:0005472

Genes and Diseases:

Child Nodes:

Sister Nodes:

Coronal craniosynostosis (HP:0004440)

Lambdoidal craniosynostosis (HP:0004443)

Multiple suture craniosynostosis (HP:0011324)

Sagittal craniosynostosis (HP:0004442)

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:0005472	HP:0005472	Orbital craniosynostosis	0	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1	.	2

Genes (1) :P4HB

Diseases (1) :OMIM:112240

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