Log In|Sign Up
ENHypotrichosis, Congenital, with Juvenile Macular Dystrophy (HJMD)
Alias:
Hjmd
Congenital Hypotrichosis with Juvenile Macular Dystrophy
Hypotrichosis with Juvenile Macular Dystrophy
Hypotrichosis with Cone-Rod Dystrophy
Hypotrichosis with Juvenile Macular Degeneration
Hypotrichosis Congenital with Juvenile Macular Dystrophy
Juvenile Macular Degeneration Hypotrichosis
Favorite
Hypotrichosis, Congenital, with Juvenile Macular Dystrophy, also known as hjmd, is related to ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome and cone-rod dystrophy 2. An important gene associated with Hypotrichosis, Congenital, with Juvenile Macular Dystrophy is CDH3 (Cadherin 3), and among its related pathways/superpathways are Keratinization and Hair follicle development: cytodifferentiation - part 3 of 3. Affiliated tissues include skin and eye, and related phenotypes are short stature and blindness
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
