Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1 (HGPPS1)

Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1(来自ICD-11)
别称:
Hgpps
Horizontal Gaze Palsy with Progressive Scoliosis
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 1
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis
Familial Horizontal Gaze Palsy with Progressive Scoliosis
Progressive External Ophthalmoplegia and Scoliosis
Hgpps1
Familial Infantile Scoliosis Associated with Bilateral Paralysis of Conjugate Gaze
Familial Idiopathic Scoliosis Associated with Congenital Encephalopathy
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, Type 1
Ophthalmoplegia, Progressive External, and Scoliosis
Gaze Palsy, Horizontal, with Progressive Scoliosis
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References Literature
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1, also known as hgpps, is related to scoliosis and esotropia. An important gene associated with Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1 is ROBO3 (Roundabout Guidance Receptor 3), and among its related pathways/superpathways are Regulation of expression of SLITs and ROBOs and Regulation of commissural axon pathfinding by SLIT and ROBO. Affiliated tissues include eye and pons, and related phenotypes are scoliosis and kyphosis
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MALACARDS
AR
Child
--
2
19
20

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