Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly (SRTD2)

Alias:
Asphyxiating Thoracic Dystrophy 2
Srtd2
Atd2
Dysplasia, Short-Rib Thoracic, Type 2, with/without Polydactyly
Jeune Asphyxiating Thoracic Dystrophy
Jeune Syndrome 2
Jatd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly, also known as asphyxiating thoracic dystrophy 2, is related to short-rib thoracic dysplasia 1 with or without polydactyly and short-rib thoracic dysplasia 12. An important gene associated with Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly is IFT80 (Intraflagellar Transport 80). Affiliated tissues include pancreas and liver, and related phenotypes are brachydactyly and narrow chest
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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7
32
6

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
No data available

References Literature

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