Log In|Sign Up
ENEctodermal Dysplasia/short Stature Syndrome (ECTDS)
Alias:
Nail and Teeth Abnormalities-Marginal Palmoplantar Keratoderma-Oral Hyperpigmentation Syndrome
Ectds
Short Stature-Nail Dysplasia-Marginal Palmoplantar Keratoderma-Oral Hyperpigmentation Syndrome
Dysplasia, Ectodermal/short Stature Syndrome
Ectodermal Dysplasia-Short Stature Syndrome
Favorite
Ectodermal Dysplasia/short Stature Syndrome, is also known as nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome. An important gene associated with Ectodermal Dysplasia/short Stature Syndrome is GRHL2 (Grainyhead Like Transcription Factor 2). Affiliated tissues include skin and tongue, and related phenotypes are short stature and palmoplantar keratoderma
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
