Term Name: | short-rib thoracic dysplasia 14 with polydactyly |
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Synonyms: | SRTD14 |
Definition: | An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the KIAA0586 gene on chromosome 14q23. |
Ontology: | Human Disease [DOID:0110096] ( DOID:0110096 ) |