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	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007109	HP:0007109	Periventricular cysts	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.	1
HP:0007109	HP:0007109	Periventricular cysts	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0007109	HP:0007109	Periventricular cysts	0	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0007109	HP:0007109	Periventricular cysts	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0007109	HP:0007109	Periventricular cysts	0	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II		188
HP:0007109	HP:0007109	Periventricular cysts	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0007109	HP:0007109	Periventricular cysts	0	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	.	2
HP:0007109	HP:0007109	Periventricular cysts	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.	118
HP:0007109	HP:0007109	Periventricular cysts	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0007109	HP:0007109	Periventricular cysts	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0007109	HP:0007109	Periventricular cysts	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional	1
HP:0007109	HP:0007109	Periventricular cysts	0	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency	HP:0040283 - Occasional	37
HP:0007109	HP:0007109	Periventricular cysts	0	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency	HP:0040283 - Occasional	98
HP:0007109	HP:0000933	Posterior fossa cyst at the fourth ventricle	1	CL E G H

Genes (12) :CPLX1 CTBP1 FARSA FGFRL1 GFAP LETM1 LIPT2 NSD2 OCRL ODC1 PDHB PDHX

Diseases (9) :OMIM:194190 OMIM:619013 ORPHA:363722 OMIM:617668 OMIM:309000 OMIM:619075 ORPHA:544488 ORPHA:255138 ORPHA:255182

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

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