Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Central nervous system cyst (HP:0030724)

Parent Node:
Abnormal periventricular white matter morphology (HP:0002518)

Parent Node:
Intracranial cystic lesion (HP:0010576)

..Starting node
..Periventricular cysts (HP:0007109)

Term ID:

7109

Name:

Periventricular cysts

Synonym:

Definition:

Comments:

Reference:

HP:0007109

Genes and Diseases:

Child Nodes:

........

Posterior fossa cyst at the fourth ventricle (HP:0000933)

Sister Nodes:

Basal ganglia cysts (HP:0006799)

Cerebellar cyst (HP:0002350)

Intracranial dermoid cyst (HP:0012097)

Intracranial epidermoid cyst (HP:0012096)

Posterior fossa cyst (HP:0007291)

Subependymal cysts (HP:0002416)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0007109	HP:0007109	Periventricular cysts	0	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	206	2309	605032
HP:0007109	HP:0007109	Periventricular cysts	0	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	352	2494	602618
HP:0007109	HP:0007109	Periventricular cysts	0	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	396	3693	605830
HP:0007109	HP:0007109	Periventricular cysts	0	GLUL CL E G H	2752	610015	Glutamine deficiency, congenital	610015	C1864910	OMIM	1	256	4341	138290
HP:0007109	HP:0007109	Periventricular cysts	0	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	367	6556	604407
HP:0007109	HP:0007109	Periventricular cysts	0	LIPT2 CL E G H	387787	617668	ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES	617668	C4540052	OMIM	1	113	37216	617659
HP:0007109	HP:0007109	Periventricular cysts	0	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	538	12766	602952
HP:0007109	HP:0007109	Periventricular cysts	0	OCRL CL E G H	4952	309000	Lowe syndrome	309000	C0028860	OMIM	1	643	8108	300535
HP:0007109	HP:0007109	Periventricular cysts	0	WHCR CL E G H	7467	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1		12764	0
HP:0007109	HP:0000933	Posterior fossa cyst at the fourth ventricle	1	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	206	2309	605032
HP:0007109	HP:0000933	Posterior fossa cyst at the fourth ventricle	1	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	352	2494	602618
HP:0007109	HP:0000933	Posterior fossa cyst at the fourth ventricle	1	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	396	3693	605830
HP:0007109	HP:0000933	Posterior fossa cyst at the fourth ventricle	1	GLUL CL E G H	2752	610015	Glutamine deficiency, congenital	610015	C1864910	OMIM	1	256	4341	138290
HP:0007109	HP:0000933	Posterior fossa cyst at the fourth ventricle	1	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	367	6556	604407
HP:0007109	HP:0000933	Posterior fossa cyst at the fourth ventricle	1	LIPT2 CL E G H	387787	617668	ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES	617668	C4540052	OMIM	1	113	37216	617659
HP:0007109	HP:0000933	Posterior fossa cyst at the fourth ventricle	1	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	538	12766	602952
HP:0007109	HP:0000933	Posterior fossa cyst at the fourth ventricle	1	OCRL CL E G H	4952	309000	Lowe syndrome	309000	C0028860	OMIM	1	643	8108	300535
HP:0007109	HP:0000933	Posterior fossa cyst at the fourth ventricle	1	WHCR CL E G H	7467	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1		12764	0
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (9) :CPLX1 CTBP1 FGFRL1 GLUL LETM1 LIPT2 NSD2 OCRL WHCR

Diseases (4) :194190 610015 617668 309000

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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