OBO ID: DOID:0060571
Term Name: Ritscher-Schinzel syndrome 1 Search Ontology:
Synonyms:
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
References:
Ontology: Human Disease   (DOID:0060571)
OTHER Ritscher-Schinzel syndrome 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
WASHC5 Ritscher-Schinzel syndrome 1 220210
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None