A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24. [ http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/24065355 ]

This is just here as a test because I lose it

Term information

database cross reference
  • MIM:220210
  • ORDO:7
Subsets

DO_rare_slim

has obo namespace

disease_ontology

id

DOID:0060571