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:
Encephalocele (HP:0002084)

Parent Node:
Frontal encephalocele (HP:0007330)

..Starting node
..Nasofrontal encephalocele (HP:0011818)

Term ID:

11818

Name:

Nasofrontal encephalocele

Synonym:

Naso-frontal encephalocele

Definition:

Comments:

Reference:

HP:0011818

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0011818	HP:0011818	Nasofrontal encephalocele	0	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome	47

Genes (1) :VSX1

Diseases (1) :OMIM:614195

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