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Metadata
ID DOID:0060572
Name Ritscher-Schinzel syndrome 2
Definition A Ritscher-Schinzel syndrome that has_material_basis_in mutation in the CCDC22 gene on chromosome Xp11.
https://www.ncbi.nlm.nih.gov/pubmed/24916641
Xrefs

OMIM:300963

ORDO:7

Subsets

DO_rare_slim

Parent Relationships

is_a X-linked recessive disease

is_a Ritscher-Schinzel syndrome

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