Human Phenotype Ontology 
..Starting node
..expandNesidioblastosis (HP:0034346)help
Term ID: 34346
Name: Nesidioblastosis
Synonym:
Definition: An abnormality of pancreatic beta cells characterized by a proliferation of abnormal beta cells throughout the entire pancreas, with enlarged islet size and number (hypertrophic islets), increased periductular islets, enlarged beta-cell nuclei and abundant clear cytoplasm. Occasionally beta cells with pleomorphic nuclei, ductuloinsular complexes, and neoformation of islets from ducts are observed.
Comments:
Reference: HP:0034346
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:0034346HP:0034346Nesidioblastosis0KCNJ11 CL E G H37676257OMIM:601820Hyperinsulinemic hypoglycemia, familial, 2127


Genes (1) :KCNJ11

Diseases (1) :OMIM:601820
 

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