Term Name: | short-rib thoracic dysplasia 10 with or without polydactyly |
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Synonyms: | SRTD10 |
Definition: | An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23. |
Ontology: | Human Disease [DOID:0110091] ( DOID:0110091 ) |