Metadata | |
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ID | DOID:0060571 |
Name | Ritscher-Schinzel syndrome 1 |
Definition | A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24. https://www.ncbi.nlm.nih.gov/pubmed/24065355 |
Xrefs | |
Subsets |
DO_rare_slim |
Parent Relationships |