Additional Disease Briefs

cathepsin a-related arteriopathy-strokes-leukoencephalopathy

Also known as: CARASAL

caudal duplication

Also known as: caudal DUPLICATION anomaly, dipygus, split notochord syndrome

caudal regression-sirenomelia spectrum

cavernous hemangioma

Also known as: cavernoma, cavernous angioma, cavernous haemangioma, cavernous hemangioma, cavernous hemangioma (morphologic abnormality)

cavitary myiasis

Cayman type cerebellar ataxia

Also known as: ATCAY, Cayman ataxia, Cayman cerebellar ataxia, Cayman type cerebellar ataxia, ataxia, cerebellar, Cayman type, cerebellar ataxia, CAYMAN type, cerebellar ataxia, Cayman type

CBL-related disorder

Also known as: CBL-related disorder, Cbl mutation-associated syndrome, Cbl syndrome, NSLL, Noonan syndrome-like disorder with JMML, Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia, Noonan syndrome-like disorder with juvenile myelomonocytic leukemia, Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, Noonan-like syndrome

CCDC115-CDG

Also known as: CDG IIo, CDG syndrome type IIo, CDG-IIo, CDG2O, carbohydrate deficient glycoprotein syndrome type IIo, congenital disorder of glycosylation type 2o, congenital disorder of glycosylation type IIo, congenital disorder of glycosylation, type IIo

CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome