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:
Cephalocele (HP:0011815)

Grandparent Node:
Morphological central nervous system abnormality (HP:0002011)

Parent Node:
Encephalocele (HP:0002084)

..Starting node
..Frontal encephalocele (HP:0007330)

Term ID:

7330

Name:

Frontal encephalocele

Synonym:

Definition:

Comments:

Reference:

HP:0007330

Genes and Diseases:

Child Nodes:

........

Nasofrontal encephalocele (HP:0011818)

Sister Nodes:

Anterior basal encephalocele (HP:0006992)

Anterior encephalocele (HP:0007035)

Basal encephalocele (HP:0011817)

Cranium bifidum occultum (HP:0004423)

Meningoencephalocele (HP:0006888)

Occipital encephalocele (HP:0002085)

Orbital encephalocele (HP:0007115)

Parietal encephalocele (HP:0011816)

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:0007330	HP:0007330	Frontal encephalocele	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0007330	HP:0007330	Frontal encephalocele	0	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome		47
HP:0007330	HP:0011818	Nasofrontal encephalocele	1	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome		47

Genes (2) :ESCO2 VSX1

Diseases (2) :OMIM:268300 OMIM:614195

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