Ritscher-Schinzel syndrome 1

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Summary

Literature (0)

DOID:0060571 - Ritscher-Schinzel syndrome 1

Disease Ontology Definition:A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: washc5

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009073 - Ritscher-Schinzel syndrome 1

MONDO:0009073 - Ritscher-Schinzel syndrome 1

MIM:

MIM:220210 - RITSCHER-SCHINZEL SYNDROME 1; RTSC1

MIM:220210 - RITSCHER-SCHINZEL SYNDROME 1; RTSC1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), Ritscher-Schinzel syndrome (is_a)