Open Spinal Dysraphism

Alias:
Spina Bifida Aperta
Open Spina Bifida
Spina Bifida Aperta with Tethered Spinal Cord
Spina Bifida Without Hydrocephalus
Spina Bifida Manifesta
Spina Bifida Open
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Open Spinal Dysraphism, also known as spina bifida aperta, is related to anencephaly and neural tube defects. An important gene associated with Open Spinal Dysraphism is ACHE (Acetylcholinesterase (Yt Blood Group)), and among its related pathways/superpathways are Peptide hormone metabolism and Synthesis of PC. Affiliated tissues include spinal cord and skin, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance
Related ID:
ICD11:187581000

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
6-9/10000
3
19
--

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

Name
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
Journal
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IF
No Data Found!
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