ZFIN Human Disease: Ritscher-Schinzel syndrome 1

OBO ID: DOID:0060571

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:	OMIM:220210 ORDO:7
Ontology:	Human Disease ( DOID:0060571 )

Relationships

is a type of:	autosomal recessive disease Ritscher-Schinzel syndrome autosomal recessive disease Ritscher-Schinzel syndrome Show first 5 Terms

OTHER Ritscher-Schinzel syndrome 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
WASHC5	washc5	Ritscher-Schinzel syndrome 1	220210

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None