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
..Anterior basal encephalocele (HP:0006992)

Term ID:

6992

Name:

Anterior basal encephalocele

Synonym:

Definition:

Comments:

Reference:

HP:0006992

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anterior encephalocele (HP:0007035)

Basal encephalocele (HP:0011817)

Cranium bifidum occultum (HP:0004423)

Frontal encephalocele (HP:0007330)

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:0006992	HP:0006992	Anterior basal encephalocele	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.	9

Genes (1) :ALX3

Diseases (1) :OMIM:136760

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