Additional Disease Briefs

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TCF12-related craniosynostosis

Also known as: CRS3, TCF12 craniosynostosis, TCF12-related craniosynostosis, craniosynostosis 3, craniosynostosis caused by mutation in TCF12, craniosynostosis type 3


TCR-alpha-beta-positive T-cell deficiency

Also known as: IMD7, T-cell receptor-ALPHA/BETA deficiency, TCR-Alpha/Beta deficiency, TCR-alpha-beta+ T-cell deficiency, immunodeficiency 7, immunodeficiency 7, TCR-alpha/beta deficient


Teebi-Shaltout syndrome

Also known as: TBSH, Teebi Shaltout syndrome, Teebi-Shaltout syndrome, craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage




telangiectasia, hereditary hemorrhagic, type 1

Also known as: ENG-related Hereditary hemorrhagic telangiectasia, HHT, HHT1, ORW disease, Osler Weber Rendu syndrome type 1, Osler-Rendu-Weber disease, hereditary hemorrhagic telangiectasia type 1, telangiectasia, hereditary hemorrhagic, of RENDU, Osler, and WEBER, telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber, telangiectasia, hereditary hemorrhagic, type 1