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Metadata
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

OMIM:220210

ORDO:7

Subsets

DO_rare_slim

Parent Relationships

is_a Ritscher-Schinzel syndrome

is_a autosomal recessive disease

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