Additional Disease Briefs

SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome

severe achondroplasia-developmental delay-acanthosis nigricans syndrome

Also known as: SADDAN, SADDAN dysplasia, achondroplasia, severe, with developmental delay and acanthosis nigricans, severe achondroplasia with developmental delay and acanthosis nigricans

severe acute respiratory syndrome

Also known as: SARS, SARS coronavirus caused disease or disorder, SARS coronavirus disease or disorder, SARS coronavirus infectious disease, SARS-CoV infection, acute respiratory coronavirus infection

severe Canavan disease

Also known as: infantile Canavan disease, neonatal Canavan disease

severe combined immunodeficiency due to CARD11 deficiency

Also known as: CARD11 immunodeficiency, IMD11, IMD11A, SCID due to CARD11 deficiency, immunodeficiency 11, immunodeficiency 11A, immunodeficiency type 11

severe combined immunodeficiency due to CARMIL2 deficiency

Also known as: IMD58, immunodeficiency 58

severe combined immunodeficiency due to CD70 deficiency

Also known as: lymphoproliferative syndrome 3

severe combined immunodeficiency due to CORO1A deficiency

Also known as: IMD8, SCID due to CORO1A deficiency, SCID due to coronin-1A deficiency, coronin-1A deficiency, immunodeficiency 8, immunodeficiency type 8, severe combined immunodeficiency due to CORO1A deficiency, severe combined immunodeficiency due to coronin-1A deficiency

severe combined immunodeficiency due to CTPS1 deficiency

Also known as: IMD24, SCID due to CTPS1 deficiency, immunodeficiency 24, immunodeficiency type 24