Human Phenotype Ontology 
Grandparent Node:
expandNeoplasm of the peripheral nervous system (HP:0100007)help
Parent Node:
expandNeuroma (HP:0030430)help
..Starting node
..expandMultiple mucosal neuromas (HP:0031023)help
Term ID: 31023
Name: Multiple mucosal neuromas
Synonym:
Definition: Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath.
Comments:
Reference: HP:0031023
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031023HP:0031023Multiple mucosal neuromas0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040283 - Occasional1952


Genes (1) :NF1

Diseases (1) :ORPHA:97685
 

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