Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly (SRTD4)

Alias:
Asphyxiating Thoracic Dystrophy 4
Srtd4
Atd4
Dysplasia, Short-Rib Thoracic, Type 4, with/without Polydactyly
Jeune Asphyxiating Thoracic Dystrophy
Jeune Syndrome 4
Jatd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly, also known as asphyxiating thoracic dystrophy 4, is related to short-rib thoracic dysplasia 5 with or without polydactyly and short rib-polydactyly syndrome. An important gene associated with Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly is TTC21B (Tetratricopeptide Repeat Domain 21B), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Signaling by Hedgehog. 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
--
12
50
6

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
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
No data available

References Literature

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