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:
Abnormal cerebral ventricle morphology (HP:0002118)

Parent Node:
Ventriculomegaly (HP:0002119)

..Starting node
..Enlarged interhemispheric fissure (HP:0100953)

Term ID:

100953

Name:

Enlarged interhemispheric fissure

Synonym:

Enlarged great longitudinal fissure; Enlarged longitudinal cerebral fissure; Enlarged longitudinal fissure

Definition:

Comments:

Reference:

HP:0100953

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dilated fourth ventricle (HP:0002198)

Dilated third ventricle (HP:0007082)

Enlarged cisterna magna (HP:0002280)

Enlarged fossa interpeduncularis (HP:0100951)

Enlarged sylvian cistern (HP:0100952)

Lateral ventricle dilatation (HP:0006956)

Mild fetal ventriculomegaly (HP:0010952)

Progressive ventriculomegaly (HP:0007100)

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:0100953	HP:0100953	Enlarged interhemispheric fissure	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040282 - Frequent	532

Genes (1) :MRE11

Diseases (1) :ORPHA:251347

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