Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis (SOFT)

Alias:
Soft Syndrome
Short Stature-Onychodysplasia-Facial Dysmorphism-Hypotrichosis Syndrome
Soft
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome
Stature, Short, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis, also known as soft syndrome, is related to soft tissue sarcoma and alveolar soft part sarcoma, and has symptoms including waddling gait An important gene associated with Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis is POC1A (POC1 Centriolar Protein A). Affiliated tissues include bone and skin, and related phenotypes are diabetes mellitus and developmental regression
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
1
5
4

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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