Human Phenotype Ontology 
Grandparent Node:
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Abnormal glial cell morphology (HP:0100705)help
Grandparent Node:
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Malignant neoplasm of the central nervous system (HP:0100836)help
Grandparent Node:
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Neuroepithelial neoplasm (HP:0030063)help
Parent Node:
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Glioma (HP:0009733)help
..Starting node
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Ependymoma (HP:0002888)help
Term ID: 2888
Name: Ependymoma
Synonym:
Definition: The presence of an ependymoma of the central nervous system.
Comments:
Reference: HP:0002888
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAstrocytoma (HP:0009592) help
..expandBrainstem glioma (HP:0010796) help
..expandCerebellar glioma (HP:0010795) help
..expandGlioblastoma multiforme (HP:0012174) help
..expandOptic nerve glioma (HP:0009734) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002888HP:0002888Ependymoma0APC CL E G H324583ORPHA:99818Turcot syndrome with polyposisHP:0040284 - Very rare3179
HP:0002888HP:0002888Ependymoma0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare2
HP:0002888HP:0002888Ependymoma0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare102
HP:0002888HP:0002888Ependymoma0CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional289
HP:0002888HP:0002888Ependymoma0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare1
HP:0002888HP:0002888Ependymoma0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare
HP:0002888HP:0002888Ependymoma0CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional833
HP:0002888HP:0002888Ependymoma0ERBB2 CL E G H20643430OMIM:137800Glioma susceptibility 1.77
HP:0002888HP:0002888Ependymoma0IDH1 CL E G H34175382OMIM:137800Glioma susceptibility 1.15
HP:0002888HP:0002888Ependymoma0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-2.23
HP:0002888HP:0002888Ependymoma0MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional1
HP:0002888HP:0002888Ependymoma0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare462
HP:0002888HP:0002888Ependymoma0MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 1.1819
HP:0002888HP:0002888Ependymoma0NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2HP:0040283 - Occasional220
HP:0002888HP:0002888Ependymoma0NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220
HP:0002888HP:0002888Ependymoma0RELA CL E G H59709955ORPHA:251636EpendymomaHP:0040280 - Obligate1
HP:0002888HP:0002888Ependymoma0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040284 - Very rare143
HP:0002888HP:0002888Ependymoma0TP53 CL E G H715711998OMIM:137800Glioma susceptibility 1.911
HP:0002888HP:0002888Ependymoma0TP53 CL E G H715711998ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional911
HP:0002888HP:0002888Ependymoma0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-1.1090
HP:0002888HP:0002888Ependymoma0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-2.2738
HP:0002888HP:0002888Ependymoma0ZFTA CL E G H6599828449ORPHA:251636EpendymomaHP:0040280 - Obligate


Genes (20) :APC CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CHEK2 ERBB2 IDH1 IFNG MDM2 MEN1 MLH1 NF2 RELA SETBP1 TP53 TSC1 TSC2 ZFTA

Diseases (11) :ORPHA:99818 ORPHA:652 ORPHA:524 OMIM:137800 OMIM:613254 OMIM:276300 ORPHA:637 OMIM:101000 ORPHA:251636 ORPHA:798 OMIM:191100
 

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