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Plain-language summaries of 10,888 rare conditions, drawn from MONDO, GeneReviews, ClinVar, FDA, NIH, ClinicalTrials.gov, PubMed, and 5 other public sources. Free, sourced, never gated.
Kisho provides public health information only — not medical advice. Always consult your healthcare provider.
12
authoritative sources — clinical, regulatory, scientific
10,888
rare conditions, continuously monitored
Daily
updates from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet…
Showing 3,801-3,820 of 10,888 diseases
MONDO:0031376
Congenital disorder of deglycosylation is a complex metabolic condition in which the normal process of attaching sugar molecules to proteins is disrup...
MONDO:0800044
Congenital disorder of deglycosylation 1 is a rare multisystem condition caused by mutations in the NGLY1 gene. It primarily affects children, with de...
MONDO:0030770
Congenital disorder of deglycosylation 2 is a multisystem condition that primarily affects early neurodevelopment and overall growth. It is associated...
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:0975846
Congenital disorder of glycosylation, type 1DD is a multisystem condition that affects several body systems including the central nervous system and o...
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:0030423
Congenital disorder of glycosylation, type 2v, also known as CDG2V, is a condition affecting the proper glycosylation of proteins, an essential cellul...
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:0014904
Congenital disorder of glycosylation, type IAA is a multisystem condition that primarily affects neurodevelopment and other body systems from birth. I...
MONDO:0800353
Congenital disorder of glycosylation, type Ibb, is a complex condition that falls within the broad category of disorders affecting the glycosylation p...
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:0005501
Congenital disorder of glycosylation type II is a complex condition characterized by abnormal processing of protein-bound oligosaccharide chains, whic...
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:0030043
Congenital disorder of glycosylation, type iit is a multisystem condition that primarily affects protein processing through abnormal glycosylation. Th...
MONDO:0030437
Congenital disorder of glycosylation, type IIw is a condition affecting multiple body systems, with prominent abnormalities in blood clotting, liver f...
Built from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet, and 7 more public sources. Updated daily.