Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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 cerebral ventricle morphology (HP:0002118)

Parent Node:
Intracranial cystic lesion (HP:0010576)

..Starting node
..Subependymal cysts (HP:0002416)

Term ID:

2416

Name:

Subependymal cysts

Synonym:

Subependymal germinolytic cyst; Subependymal pseudocyst

Definition:

Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life.

Comments:

Reference:

HP:0002416

Genes and Diseases:

Child Nodes:

Sister Nodes:

Basal ganglia cysts (HP:0006799)

Cerebellar cyst (HP:0002350)

Intracranial dermoid cyst (HP:0012097)

Intracranial epidermoid cyst (HP:0012096)

Periventricular cysts (HP:0007109)

Posterior fossa cyst (HP:0007291)

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:0002416	HP:0002416	Subependymal cysts	0	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1	.	102
HP:0002416	HP:0002416	Subependymal cysts	0	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0002416	HP:0002416	Subependymal cysts	0	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency	.	98
HP:0002416	HP:0002416	Subependymal cysts	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0002416	HP:0002416	Subependymal cysts	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0002416	HP:0002416	Subependymal cysts	0	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0002416	HP:0002416	Subependymal cysts	0	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29	HP:0040281 - Very frequent	1
HP:0002416	HP:0002416	Subependymal cysts	0	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29		1

Genes (7) :D2HGDH GLUL PDHX PEX1 PLCH1 TUBGCP2 TXN2

Diseases (8) :OMIM:600721 OMIM:610015 OMIM:245349 OMIM:214100 OMIM:619895 OMIM:618737 ORPHA:478029 OMIM:616811

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen