Neuropathy, Hereditary Sensory and Autonomic, Type Iib (HSAN2B)

Neuropathy, Hereditary Sensory and Autonomic, Type Iib(来自ICD-11)
别称:
Hsan2b
Neuropathy, Hereditary Sensory and Autonomic, Type 2b
Hereditary Sensory and Autonomic Neuropathy Type Iib
Hereditary Sensory and Autonomic Neuropathy Type 2b
Neuropathy, Sensory and Autonomic, Hereditary, Type Iib
Neuropathy, Hereditary Sensory and Autonomic, 2b
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Basic Information
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Neuropathy, Hereditary Sensory and Autonomic, Type Iib, also known as hsan2b, is related to neuropathy, hereditary sensory and autonomic, type iia and autonomic neuropathy. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Iib is RETREG1 (Reticulophagy Regulator 1). Affiliated tissues include peripheral nerve, and related phenotypes are osteolytic defects of the phalanges of the hand and spasticity
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MALACARDS
AR
Unknown
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9
63
2

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