/asphyxiating thoracic dystrophy 1

asphyxiating thoracic dystrophy 1

Rare Disease

MONDO:0008831

Also Known As

ATD1SRTD1asphyxiating thoracic dystrophy 1asphyxiating thoracic dystrophy type 1short-rib thoracic dysplasia 1 with or without polydactylyJeune syndromethoracic-pelvic-phalangeal dystrophy

Definition

An asphyxiating thoracic dystrophy associated with variation in the region 15q13.

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Associated Genes

ATD ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:208500 ↗

GARD

GARD:15140 ↗

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