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asphyxiating thoracic dystrophy 2

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene.

Synonyms

  • ATD2
  • IFT80 Jeune syndrome
  • Jeune syndrome caused by mutation in IFT80
  • SRTD2
  • asphyxiating thoracic dystrophy 2
  • asphyxiating thoracic dystrophy type 2
  • short-rib thoracic dysplasia 2 with or without polydactyly
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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