Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 (NPHLOP2)

Nephrolithiasis/osteoporosis, Hypophosphatemic, 2, also known as hypophosphatemic nephrolithiasis/osteoporosis 2, is related to barber-say syndrome and intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism. An important gene associated with Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 is NHERF1 (NHERF Family PDZ Scaffold Protein 1), and among its related pathways/superpathways is Tyrosine Kinases / Adaptors. Affiliated tissues include kidney, and related phenotypes are osteopenia and hypophosphatemia. 肾石症/骨质疏松症，低磷性，2，也称为低磷性肾石症/骨质疏松症2，与巴贝-赛综合征和伴有或不伴有眼部畸形或性腺功能减退的智力发育障碍有关。与Nephrolithiasis/osteoporosis, Hypophosphatemic, 2相关的基因是NHERF1（NHERF家族PDZ支架蛋白1），其相关通路/超级通路包括酪氨酸激酶/适配器。相关组织包括肾脏，相关表型为骨质疏松和低磷血症。