Human Phenotype Ontology 
Grandparent Node:
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Abnormal peripheral nervous system morphology (HP:0000759)help
Grandparent Node:
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Neoplasm of the nervous system (HP:0004375)help
Parent Node:
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Neoplasm of the peripheral nervous system (HP:0100007)help
..Starting node
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Schwannoma (HP:0100008)help
Term ID: 100008
Name: Schwannoma
Synonym: Neurilemmoma; Neurinoma; Neurolemmoma; Schwann cell tumor; Schwann cell tumour; Schwannomas
Definition: A benign nerve sheath tumor composed of Schwann cells.
Comments:
Reference: HP:0100008
Genes and Diseases:
 
       Child Nodes:
........expandVestibular Schwannoma (HP:0009588) help
................... HP:0009589 Bilateral vestibular Schwannoma
................... HP:0009590 Unilateral vestibular Schwannoma
........expandPeripheral Schwannoma (HP:0009593) help
........expandScleral schwannoma (HP:0100011) help

 Sister Nodes: 
..expandNeoplasm of the autonomic nervous system (HP:0030450) help
..expandNeuroendocrine neoplasm (HP:0100634) help
..expandNeurofibromas (HP:0001067) help
..expandNeuroma (HP:0030430) help
..expandPeripheral neuroepithelioma (HP:0006717) 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:0100008HP:0100008Schwannoma0HRAS CL E G H32655173OMIM:218040Costello syndrome113
HP:0100008HP:0100008Schwannoma0KARS1 CL E G H37356215OMIM:613641Charcot-marie-tooth disease, recessive intermediate B
HP:0100008HP:0100008Schwannoma0LZTR1 CL E G H82166742OMIM:615670Schwannomatosis 2.43
HP:0100008HP:0100008Schwannoma0MBD4 CL E G H89306919OMIM:6199751
HP:0100008HP:0100008Schwannoma0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040283 - Occasional1952
HP:0100008HP:0100008Schwannoma0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040284 - Very rare1952
HP:0100008HP:0100008Schwannoma0NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2220
HP:0100008HP:0100008Schwannoma0NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220
HP:0100008HP:0100008Schwannoma0NF2 CL E G H47717773OMIM:162091SCHWANNOMATOSIS.220
HP:0100008HP:0100008Schwannoma0PDE11A CL E G H509408773ORPHA:1359Carney complexHP:0040282 - Frequent13
HP:0100008HP:0100008Schwannoma0PRKAR1A CL E G H55739388ORPHA:1359Carney complexHP:0040282 - Frequent134
HP:0100008HP:0100008Schwannoma0PRKAR1A CL E G H55739388OMIM:160980Carney complex, type 1.134
HP:0100008HP:0100008Schwannoma0RNF43 CL E G H5489418505ORPHA:157798Serrated polyposis syndromeHP:0040284 - Very rare5
HP:0100008HP:0100008Schwannoma0SMARCB1 CL E G H659811103OMIM:162091SCHWANNOMATOSIS.87
HP:0100008HP:0100008Schwannoma0SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0100008HP:0100011Scleral schwannoma1 CL E G H
HP:0100008HP:0009588Vestibular schwannoma1HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0100008HP:0009588Vestibular schwannoma1KARS1 CL E G H37356215OMIM:613641Charcot-marie-tooth disease, recessive intermediate B.
HP:0100008HP:0009593Peripheral Schwannoma1NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2HP:0040282 - Frequent220
HP:0100008HP:0009588Vestibular schwannoma1NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2220
HP:0100008HP:0009593Peripheral Schwannoma1NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II.220
HP:0100008HP:0009588Vestibular schwannoma1NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220
HP:0100008HP:0009593Peripheral Schwannoma1NF2 CL E G H47717773OMIM:162091SCHWANNOMATOSIS220
HP:0100008HP:0009593Peripheral Schwannoma1SMARCB1 CL E G H659811103OMIM:162091SCHWANNOMATOSIS87
HP:0100008HP:0009588Vestibular schwannoma1SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0100008HP:0009589Bilateral vestibular schwannoma2NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2HP:0040282 - Frequent220
HP:0100008HP:0009590Unilateral vestibular schwannoma2NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220
HP:0100008HP:0009589Bilateral vestibular schwannoma2NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220


Genes (11) :HRAS KARS1 LZTR1 MBD4 NF1 NF2 PDE11A PRKAR1A RNF43 SMARCB1 SPRED1

Diseases (13) :OMIM:218040 OMIM:613641 OMIM:615670 OMIM:619975 ORPHA:97685 ORPHA:363700 ORPHA:637 OMIM:101000 OMIM:162091 ORPHA:1359 OMIM:160980 ORPHA:157798 ORPHA:137605
 

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