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 sylvian cistern (HP:0100952)

Term ID:

100952

Name:

Enlarged sylvian cistern

Synonym:

Enlarged lateral fissure; Enlarged lateral sulcus; Enlarged sylvian fissure

Definition:

An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure).

Comments:

Reference:

HP:0100952

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 interhemispheric fissure (HP:0100953)

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	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100952	HP:0100952	Enlarged sylvian cistern	0	ADGRG1 CL E G H	9289	4512	OMIM:615752	POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR	88
HP:0100952	HP:0100952	Enlarged sylvian cistern	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42	20
HP:0100952	HP:0100952	Enlarged sylvian cistern	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1	90
HP:0100952	HP:0100952	Enlarged sylvian cistern	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	135
HP:0100952	HP:0100952	Enlarged sylvian cistern	0	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS

Genes (5) :ADGRG1 PGAP1 RAB3GAP1 RAB3GAP2 SPATA5L1

Diseases (5) :OMIM:615752 OMIM:615802 OMIM:600118 OMIM:212720 OMIM:619616

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