Metadata | |
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ID | DOID:0110097 |
Name | short-rib thoracic dysplasia 9 with or without polydactyly |
Definition | An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. https://www.ncbi.nlm.nih.gov/pubmed/22503633 |
Xrefs | |
Synonyms |
renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia [EXACT] SRTD9 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |