Ehlers-Danlos Syndrome, Musculocontractural Type, 1 (EDSMC1)

Ehlers-Danlos Syndrome, Musculocontractural Type, 1(来自ICD-11)
别称:
Ehlers-Danlos Syndrome, Musculocontractural Type 1
Adducted Thumb-Clubfoot Syndrome
Ehlers-Danlos Syndrome, Musculocontractural Type
Dundar Syndrome
Distal Arthrogryposis with Peculiar Facies and Hydronephrosis
Ehlers-Danlos Syndrome Musculocontractural Type 1
Musculocontractural Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome, Kosho Type
Musculocontractural Eds
Edsmc1
Edsmc
Mceds
Atcs
Adducted Thumb, Clubfoot, and Progressive Joint and Skin Laxity Syndrome
Arthrogryposis, Distal, with Peculiar Facies and Hydronephrosis
Arthrogryposis Distal with Peculiar Facies and Hydronephrosis
Ehlers-Danlos, Musculocontractural Syndrome, Type 1
Ehlers-Danlos, Musculocontractural Syndrome
Ehlers-Danlos Syndrome, Type Vib, Formerly
Adducted Thumbs-Arthrogryposis Dundar Type
Ehlers-Danlos Syndrome Type Vib Formerly
Adducted Thumb Club Foot Syndrome
Eds6b, Formerly
Dündar Syndrome
Eds6b Formerly
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ehlers-Danlos Syndrome, Musculocontractural Type, 1, also known as ehlers-danlos syndrome, musculocontractural type 1, is related to clubfoot and exostosis, and has symptoms including constipation An important gene associated with Ehlers-Danlos Syndrome, Musculocontractural Type, 1 is CHST14 (Carbohydrate Sulfotransferase 14), and among its related pathways/superpathways are Metabolism and Metapathway biotransformation Phase I and II. Affiliated tissues include skin and bone, and related phenotypes are scoliosis and high palate
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基础信息

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参考文献
MALACARDS
AR
Unknown
<1/1000000
18
80
29

疾病表征

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靶点药物

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临床阶段
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MGI
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