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Angel-Shaped Phalangoepiphyseal Dysplasia (ASPED)

Alias:
Angel-Shaped Phalango-Epiphyseal Dysplasia
Asped
Angel Shaped Phalangoepiphyseal Dysplasia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Angel-Shaped Phalangoepiphyseal Dysplasia, also known as angel-shaped phalango-epiphyseal dysplasia, is related to uncombable hair syndrome 1 and ectodermal dysplasia. An important gene associated with Angel-Shaped Phalangoepiphyseal Dysplasia is GDF5 (Growth Differentiation Factor 5). Affiliated tissues include bone, and related phenotypes are short 1st metacarpal and short middle phalanx of finger
Related ID：
MALACARDS：ANG066
OMIM：105835

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
All ages
<1/1000000
1
17
3
ANG066

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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