All diseases

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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
04348 CHOPS CHOPS syndrome 616368 AD - - AFF4 - arched eyebrows, synophrys, long eyelashes, and upturned nasal tip in younger patients and coarsening face in older children; global developmental delay (HP:0001263); intellectual disability (HP:0001249); no seizure (-HP:0001250); no hypotonia (-HP:0001252); short stature (HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); heart anomalies (patent ductus arteriosus and ventricular septal defect), pulmonary and respiratory tract involvement, and skeletal dysplasia with abnormal vertebral shape
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