Osteoglophonic Dysplasia (OGD)

Osteoglophonic Dysplasia(来自ICD-11)
别称:
Osteoglophonic Dwarfism
Ogd
Osteoglosphonic Dysplasia
Fairbank-Keats Syndrome
Dysplasia, Osteoglophonic
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Basic Information
Medical Symptom
Gene & Mutation
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Disease Model
References Literature
Osteoglophonic Dysplasia, also known as osteoglophonic dwarfism, is related to pfeiffer syndrome and hypogonadotropic hypogonadism 2 with or without anosmia. An important gene associated with Osteoglophonic Dysplasia is FGFR1 (Fibroblast Growth Factor Receptor 1), and among its related pathways/superpathways are Infectious disease and ERK Signaling. Affiliated tissues include bone and tongue, and related phenotypes are hypertelorism and abnormal form of the vertebral bodies
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参考文献
MALACARDS
AD
Newborn
<1/1000000
14
224
11

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靶点药物

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