Metadata | |
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ID | DOID:0110096 |
Name | short-rib thoracic dysplasia 14 with polydactyly |
Definition | An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the KIAA0586 gene on chromosome 14q23. https://www.ncbi.nlm.nih.gov/pubmed/26166481 |
Xrefs | |
Synonyms |
SRTD14 [EXACT] |
Parent Relationships |