Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly (SRTD10)

Alias:
Srtd10
Dysplasia, Thoracic, Short-Rib, Type 10 with/without Polydactyly
Short-Rib Thoracic Dysplasia 10 Without Polydactyly
Short Rib-Polydactyly Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly, also known as srtd10, is related to achondrogenesis, type ia and greenberg dysplasia. An important gene associated with Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly is IFT172 (Intraflagellar Transport 172), and among its related pathways/superpathways is Intraflagellar transport. Affiliated tissues include pancreas and liver, and related phenotypes are hydrocephalus and genu valgum
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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10
77
10

Medical Symptom

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

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
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References Literature

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