Human Phenotype Ontology 
..Starting node
..expandFocal active colitis (HP:0033164)help
Term ID: 33164
Name: Focal active colitis
Synonym:
Definition: Focal active colitis (FAC) is characterized by focal crypt damage caused by neutrophils. FAC is characterized by an inflammatory infiltrate consisting of intraepithelial neutrophils and/or neutrophils invading the lumen of the criptae, with no other microscopic alteration of the colonic mucosa and, in particular, without the presence of signs of chronic inflammation.
Comments:
Reference: HP:0033164
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:0033164HP:0033164Focal active colitis0DOCK2 CL E G H17942988OMIM:616433Immunodeficiency 406


Genes (1) :DOCK2

Diseases (1) :OMIM:616433
 

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