Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly (SRTD11)

Alias:
Srtd11
Dysplasia, Thoracic, Short-Rib, Type 11 with/without Polydactyly
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly, also known as srtd11, is related to macular degeneration, atrophic, x-linked and orofaciodigital syndrome iv. An important gene associated with Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly is DYNC2I2 (Dynein 2 Intermediate Chain 2), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Ciliary landscape. Affiliated tissues include pancreas and liver, and related phenotypes are delayed speech and language development and cryptorchidism
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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9
48
9

Medical Symptom

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Description
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HPO Source Accession
No data available

Gene & Mutation

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No data available

Disease Model

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MGI
Related Gene
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Publications
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References Literature

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