Log In|Sign Up
ENFoveal Hypoplasia-Presenile Cataract Syndrome
Alias:
O'donnell-Pappas Syndrome
O Donnell Pappas Syndrome
O'donnell Pappas Syndrome
Favorite
Foveal Hypoplasia-Presenile Cataract Syndrome, also known as o'donnell-pappas syndrome, is related to foveal hypoplasia 1. An important gene associated with Foveal Hypoplasia-Presenile Cataract Syndrome is PAX6 (Paired Box 6). Affiliated tissues include eye and retina, and related phenotypes are nystagmus and cataract
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
