Arthrogryposis, Distal, Type 5d (DA5D)

Alias:
Distal Arthrogryposis Type 5d
Da5d
Distal Arthrogryposis Type 5 Without Ophthalmoparesis
Distal Arthrogryposis Type 5 Without Ophthalmoplegia
Arthrogryposis, Distal, 5d
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Arthrogryposis, Distal, Type 5d, also known as distal arthrogryposis type 5d, is related to arthrogryposis syndrome and fissured tongue, and has symptoms including torticollis An important gene associated with Arthrogryposis, Distal, Type 5d is ECEL1 (Endothelin Converting Enzyme Like 1), and among its related pathways/superpathways are Cardiac conduction and Striated muscle contraction pathway. Affiliated tissues include tongue, and related phenotypes are cleft palate and talipes equinovarus
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
9
44
8

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

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PMID
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IF
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