Robinow Syndrome

Alias:
Acral Dysostosis with Facial and Genital Abnormalities
Fetal Face Syndrome
Robinow Dwarfism
Mesomelic Dwarfism-Small Genitalia Syndrome
Robinow-Silverman-Smith Syndrome
Robinow-Silverman Syndrome
Robinow's Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Robinow Syndrome, also known as acral dysostosis with facial and genital abnormalities, is related to robinow syndrome, autosomal dominant 2 and robinow syndrome, autosomal dominant 3. An important gene associated with Robinow Syndrome is ROR2 (Receptor Tyrosine Kinase Like Orphan Receptor 2), and among its related pathways/superpathways are Signal Transduction and ADORA2B mediated anti-inflammatory cytokines production. Affiliated tissues include bone and kidney, and related phenotypes are short stature and mesomelia
Related ID:
MESH:C562492

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Newborn
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24
207
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Medical Symptom

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Gene & Mutation

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Related Drugs

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Disease Model

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MGI
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References Literature

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