Familial Woolly Hair Syndrome

Familial Woolly Hair Syndrome(来自ICD-11)
别称:
Woolly Hair
Wooly Hair
Hereditary Woolly Hair Syndrome
Hereditary Wooly Hair Syndrome
Familial Wooly Hair Syndrome
Syndrome with Woolly Hair
Wooly Hair Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Familial Woolly Hair Syndrome, also known as woolly hair, is related to hypotrichosis 7 and hypotrichosis 8. An important gene associated with Familial Woolly Hair Syndrome is LIPH (Lipase H), and among its related pathways/superpathways are Nervous system development and DREAM Repression and Dynorphin Expression. Affiliated tissues include skin and heart, and related phenotypes are fine hair and woolly hair
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基础信息

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参考文献
MALACARDS
AR
AD
Newborn
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46
418
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