Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type (OCLSBG)

Alias:
Complex Lethal Osteochondrodysplasia
Oclsbg
Complex Lethal Osteochondrodysplasia, Symoens-Barnes-Gistelinck Type
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type, also known as complex lethal osteochondrodysplasia, is related to osteochondrodysplasia. An important gene associated with Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type is TAPT1 (Transmembrane Anterior Posterior Transformation 1). Affiliated tissues include bone and brain, and related phenotypes are short neck and osteopenia
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Basic Information

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

Medical Symptom

#
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

Title
PMID
Journal
Year
IF
No Data Found!
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