Session Details
[O15]Oral Session 15 Rare Diseases / Mendelian Disorders
Fri. Dec 19, 2025 10:40 AM - 11:30 AM JST
Fri. Dec 19, 2025 1:40 AM - 2:30 AM UTC
Fri. Dec 19, 2025 1:40 AM - 2:30 AM UTC
Room 6 (313+314, 3F, PACIFICO Yokohama)
Chairs：Atsushi Ozawa（Gunma University Graduate School of Health Sciences / Division of Genetics, Gunma University Hospital）／Taisuke Sato（Department of Obstetrics and Gynecology, The Jikei University School of Medicine, Tokyo, Japan）
［English Session］
[O15-1]Genotype and phenotype of nephronophthisis-related ciliopathies in the Japanese population
Naoya Morisada1,2, Yu Tanaka1, Yoshitaka Asagai1, Hiroaki Hanafusa1, Nana Sakakibara1, China Nagano1, Tomoko Horinouchi1, Kandai Nozu1 (1.Department of Pediatrics, Kobe University Graduate School of Medicine, 2.Department of Clinical Genetics, Hyogo Prefectural Kobe Childrenʼs Hospital)
[O15-2]Gene tests for pediatric steroid resistant nephrotic syndrome in tertiary hospital, West Java, Indonesia
Rini Rossanti1,2, Nana Sakakibara3, Ahmedz Widiasta1,2, China Nagano3, Tomohiko Yamamura3, Tomoko Horinouchi3, Dedi Rachmadi1,2, Dany Hilmanto1,1,2, Kazumoto Iijima4,5, Kandai Nozu3 (1.Department of Child Health, Nephrology Division, Dr. Hasan Sadikin General Hospital, Bandung, Indonesia, 2.Faculty of Medicine, Universitas Padjadjaran, Bandung, Indonesia, 3.Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan, 4.Hyogo Prefectural Kobe Children’s Hospital, Kobe, Japan, 5.Department of Advanced Pediatric Medicine, Kobe University Graduate School of Medicine, Kobe, Japan)
[O15-3]Withdrawn
[O15-4]Identification of a ninth complementation-group of xeroderma pigmentosum, XP-J
Tomoo Ogi (Department of Human Genetics, RIeM, Nagoya University, Nagoya, Japan)
[O15-5]Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients
Tomoe Ogawa1,2, Hiromune Narusawa3, Keisuke Nagasaki4, Rika Kosaki5, Yasuhiro Naiki6, Michihiko Aramaki1, Keiko Matsubara1,7, Akie Nakamura1, Maki Fukami1,7, Tsutomu Ogata1,8,9, Masayo Kagami1 (1.Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan, 2.Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan, 3.Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Chuo, Japan, 4.Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan, 5.Department of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan, 6.Division of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo, Japan, 7.Division of Diversity Research, National Research Institute for Child Health and Development, Tokyo, Japan, 8.Departments of Pediatrics and Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan, 9.Department of Pediatrics, Hamamatsu Medical Center, Hamamatsu, Japan)