RT Book, Section A1 Chakravarti, Aravinda A1 McCallion, Andrew S. A1 Lyonnet, Stanislas A2 Valle, David L. A2 Antonarakis, Stylianos A2 Ballabio, Andrea A2 Beaudet, Arthur L. A2 Mitchell, Grant A. SR Print(0) ID 1184077089 T1 Hirschsprung Disease T2 The Online Metabolic and Molecular Bases of Inherited Disease YR 2019 FD 2019 PB McGraw-Hill Education PP New York, NY SN 9780071459969 LK ommbid.mhmedical.com/content.aspx?aid=1184077089 RD 2024/10/13 AB A search for Hirschsprung disease in OMIM under the symbol HSCR reveals 12 entries covering both phenotypes and the specific genes involved. The phenotypes refer to HSCR1 (MIM 142623), largely comprising RET gene mutations; HSCR2 (MIM 600155), comprising EDNRB gene mutations; HSCR3 (MIM 600156), comprising a modifier on chromosome 21; and, congenital failure of autonomic control (MIM 209880). GenBank accession numbers: RET—AL022344, X12949, X15262, AJ243297; GDNF—L19063; EDNRB—D90402, AL139002; EDN3—J05081, AL035250; SOX10—AJ001183, AL031587; NTN—U78110; ECE-1—D43698, AL031005.