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Summary Literature (1)
MIM:208500 - SHORT-RIB THORACIC DYSPLASIA 1 WITH OR WITHOUT POLYDACTYLY; SRTD1

Xenbase Genes:

Human Disease Resource: OMIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008831 - asphyxiating thoracic dystrophy 1
MONDO:0018770 - Jeune syndrome

Disease Ontology (DO):
DOID:0110085 - asphyxiating thoracic dystrophy 1