Visualize Submit Comment

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	MIM:220210 ORDO:7
Subsets	DO_rare_slim
Parent Relationships	is_a Ritscher-Schinzel syndrome is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance