Adams-Oliver Syndrome (AOS)

Adams-Oliver Syndrome(来自ICD-11)
别称:
Congenital Scalp Defects with Distal Limb Reduction Anomalies
Aos
Congenital Scalp Defects with Distal Limb Anomalies
Limb, Scalp and Skull Defects
Adams Oliver Syndrome
Aplasia Cutis Congenita with Terminal Transverse Limb Defects
Absence Defect of Limbs, Scalp, and Skull
Limb Scalp and Skull Defects
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Adams-Oliver Syndrome, also known as congenital scalp defects with distal limb reduction anomalies, is related to adams-oliver syndrome 2 and adams-oliver syndrome 1, and has symptoms including seizures An important gene associated with Adams-Oliver Syndrome is DLL4 (Delta Like Canonical Notch Ligand 4), and among its related pathways/superpathways are Infectious disease and Signal Transduction. Affiliated tissues include skin and bone, and related phenotypes are failure to thrive and aplasia/hypoplasia of the skin
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基础信息

遗传方式
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参考文献
MALACARDS
AR
AD
Newborn
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53
389
1

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靶点药物

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MGI
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