/short-rib thoracic dysplasia 10 with or without polydactyly

short-rib thoracic dysplasia 10 with or without polydactyly

Rare Disease

MONDO:0014284

Also Known As

SRTD10short-rib thoracic dysplasia 10 with or without polydactyly

An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.

Comprehensive, easy-to-understand information about this condition

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

asphyxiating thoracic dystrophy 1

MONDO:0008831

Ellis-van Creveld syndrome

MONDO:0009162

short-rib thoracic dysplasia 6 with or without polydactyly

MONDO:0009894

short-rib thoracic dysplasia 9 with or without polydactyly

MONDO:0009964

Beemer-Langer syndrome

MONDO:0010024

asphyxiating thoracic dystrophy 2

MONDO:0012644