Explore 10,888+ rare diseases with trusted, clear information
Medical professionals review and validate information.
Expert Stewards stand behind their work.
Patients and families contribute real-world insights.
Showing 5,761-5,780 of 15,964 diseases
MONDO:0015286
Congenital disorder of glycosylation (CDG) is a group of inborn errors of metabolism characterized by defective glycosylation processes, which are ess...
MONDO:0022622
Congenital disorder of glycosylation syndrome type 4 is a condition that affects the body’s ability to properly add sugar groups to proteins and lipid...
MONDO:0012123
Congenital disorder of glycosylation type 1E is a condition that affects the glycoprotein synthesis pathway and is part of the broader group of congen...
MONDO:0976261
Congenital disorder of glycosylation type 1EE with or without immunodeficiency is a multisystem condition that affects both neurological and immune fu...
MONDO:0005500
Congenital disorder of glycosylation type I refers to a group of conditions in which the normal synthesis of lipid-linked oligosaccharide precursors i...
MONDO:0005501
Congenital disorder of glycosylation type II is a complex condition characterized by abnormal processing of protein-bound oligosaccharide chains, whic...
MONDO:0060720
Congenital disorder of glycosylation with defective fucosylation is a condition that affects multiple body systems, although detailed information rega...
MONDO:0020775
Congenital disorder of glycosylation with defective fucosylation 1 is a multisystem condition that primarily affects growth and neurodevelopment. The...
MONDO:0020777
Congenital disorder of glycosylation with defective fucosylation 2 is a genetic condition affecting multiple organ systems, particularly the central n...
MONDO:0975846
Congenital disorder of glycosylation, type 1DD is a multisystem condition that affects several body systems including the central nervous system and o...
MONDO:0030423
Congenital disorder of glycosylation, type 2v, also known as CDG2V, is a condition affecting the proper glycosylation of proteins, an essential cellul...
MONDO:0014904
Congenital disorder of glycosylation, type IAA is a multisystem condition that primarily affects neurodevelopment and other body systems from birth. I...
MONDO:0026729
Congenital disorder of glycosylation, type ICC is a condition that affects the normal process of glycosylation, a crucial cellular mechanism for prope...
MONDO:0957540
Congenital disorder of glycosylation, type IIaa is a multisystem condition that primarily affects the liver, musculoskeletal structure, and other orga...
MONDO:0957820
Congenital disorder of glycosylation, type IIbb is a genetic condition affecting multiple organ systems with a pronounced impact on the central nervou...
MONDO:0054559
Congenital disorder of glycosylation, type IIq is a multisystem condition resulting from abnormal glycosylation processes that affect several organ sy...
MONDO:0026765
Congenital disorder of glycosylation, type IIr is an inherited condition that affects multiple organ systems including the skin, liver, and immune sys...
MONDO:0030437
Congenital disorder of glycosylation, type IIw is a condition affecting multiple body systems, with prominent abnormalities in blood clotting, liver f...
MONDO:0859356
Congenital disorder of glycosylation, type IIy is a complex multisystem condition that primarily affects neurological development and skeletal maturat...
MONDO:0859357
Congenital disorder of glycosylation, type IIz is a multisystem condition that primarily affects neurological and developmental functions. It is cause...