Spondylocostal Dysostosis 2, Autosomal Recessive (SCDO2)

Alias:
Scdo2
Spondylocostal Dysostosis, Autosomal Recessive 2
Spondylocostal Dysostosis 2
Dysostosis, Spondylocostal, Autosomal Recessive, Type 2
Autosomal Recessive Spondylocostal Dysostosis 2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spondylocostal Dysostosis 2, Autosomal Recessive, also known as scdo2, is related to spondylocostal dysostosis, autosomal recessive and spondylocostal dysostosis 5. An important gene associated with Spondylocostal Dysostosis 2, Autosomal Recessive is MESP2 (Mesoderm Posterior BHLH Transcription Factor 2). Affiliated tissues include bone, and related phenotypes are restrictive ventilatory defect and short neck
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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3
32
3

Medical Symptom

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

Gene & Mutation

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Mutations
No data available

Related Drugs

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No data available

Disease Model

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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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