Ritscher-Schinzel syndrome 1

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Information
Disease name
Ritscher-Schinzel syndrome 1
Disease ID
DOID:0060571
Description
"A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24065355]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
Disase is a (Disease Ontology)
DOID:0060565
Cross Reference ID (Disease Ontology)
MIM:220210
Cross Reference ID (Disease Ontology)
ORDO:7