Term Name: | short-rib thoracic dysplasia 13 with or without polydactyly |
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Synonyms: | SRTD13 |
Definition: | An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the CEP120 gene on chromosome 5q23. |
Ontology: | Human Disease [DOID:0110093] ( DOID:0110093 ) |