Human Phenotype Ontology 
Grandparent Node:
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Central nervous system cyst (HP:0030724)help
Parent Node:
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Abnormal cerebral ventricle morphology (HP:0002118)help
Parent Node:
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Intracranial cystic lesion (HP:0010576)help
..Starting node
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Subependymal cysts (HP:0002416)help
Term ID: 2416
Name: Subependymal cysts
Synonym:
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: 
..expandBasal ganglia cysts (HP:0006799) help
..expandCerebellar cyst (HP:0002350) help
..expandIntracranial dermoid cyst (HP:0012097) help
..expandIntracranial epidermoid cyst (HP:0012096) help
..expandPeriventricular cysts (HP:0007109) help
..expandPosterior fossa cyst (HP:0007291) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002416HP:0002416Subependymal cysts0D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM146828358609186
HP:0002416HP:0002416Subependymal cysts0GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12564341138290
HP:0002416HP:0002416Subependymal cysts0PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM137221350608769
HP:0002416HP:0002416Subependymal cysts0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM115378850602136
HP:0002416HP:0002416Subependymal cysts0TXN2 CL E G H25828478029ORPHA17617772609063
HP:0002416HP:0002416Subependymal cysts0TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (5) :D2HGDH GLUL PDHX PEX1 TXN2

Diseases (6) :600721 610015 245349 214100 478029 616811
 

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