Human Phenotype Ontology 
Grandparent Node:
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Neoplasm of the peripheral nervous system (HP:0100007)help
Parent Node:
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Neoplasm of the skin (HP:0008069)help
Parent Node:
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Schwannoma (HP:0100008)help
..Starting node
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Peripheral Schwannoma (HP:0009593)help
Term ID: 9593
Name: Peripheral Schwannoma
Synonym:
Definition: The presence of a peripheral schwannoma.
Comments:
Reference: HP:0009593
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandScleral schwannoma (HP:0100011) help
..expandVestibular schwannoma (HP:0009588) 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:0009593HP:0009593Peripheral Schwannoma0NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2HP:0040282 - Frequent220
HP:0009593HP:0009593Peripheral Schwannoma0NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II.220
HP:0009593HP:0009593Peripheral Schwannoma0NF2 CL E G H47717773OMIM:162091SCHWANNOMATOSIS220
HP:0009593HP:0009593Peripheral Schwannoma0SMARCB1 CL E G H659811103OMIM:162091SCHWANNOMATOSIS87


Genes (2) :NF2 SMARCB1

Diseases (3) :ORPHA:637 OMIM:101000 OMIM:162091
 

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