Human Phenotype Ontology 
Grandparent Node:
expandAnorectal anomaly (HP:0012732)help
Parent Node:
expandAbnormality of the anus (HP:0004378)help
..Starting node
..expandAnal mucosal leukoplakia (HP:0005212)help
Term ID: 5212
Name: Anal mucosal leukoplakia
Synonym:
Definition: Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation.
Comments:
Reference: HP:0005212
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAnal atresia (HP:0002023) help
..expandAnal canal neoplasm (HP:0030437) help
..expandAnal fissure (HP:0012390) help
..expandAnal fistula (HP:0010447) help
..expandAnal margin neoplasm (HP:0030440) help
..expandAnal stenosis (HP:0002025) help
..expandEctopic anus (HP:0004397) help
..expandPerianal abscess (HP:0009789) help
..expandPerianal dermatitis (HP:0011131) 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:0005212HP:0005212Anal mucosal leukoplakia0ATP2A2 CL E G H488812ORPHA:218Darier diseaseHP:0040282 - Frequent86
HP:0005212HP:0005212Anal mucosal leukoplakia0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65


Genes (2) :ATP2A2 DKC1

Diseases (2) :ORPHA:218 OMIM:305000
 

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