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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 6,481-6,500 of 10,888 diseases
MONDO:0009294
Glycogen storage disease VI, also known as Hers' disease, is a benign form of glycogen storage disorder that primarily affects the liver. It arises fr...
MONDO:0009295
Glycogen storage disease VII, also known as Tarui disease, is a rare metabolic disorder that primarily affects the muscles. It is caused by mutations...
MONDO:0013291
MONDO:0009414
MONDO:0045010
Glycoprotein metabolism disease is a condition that arises from a disruption in the metabolic process of glycoproteins. It is linked to pathogenic cha...
MONDO:0017731
Glycoproteinosis is a condition characterized by abnormalities in the processing of glycoproteins that may affect multiple organ systems. The underlyi...
MONDO:0009296
Glycoprotein storage disease is an inherited metabolic condition characterized by an abnormal accumulation of glycoproteins in various tissues. The pr...
MONDO:0060627
MONDO:0040500
MONDO:0060724
MONDO:0029140
MONDO:0018149
GM1 gangliosidosis is a lysosomal storage disorder characterized by deficient beta-galactosidase activity that leads to the accumulation of gangliosid...
MONDO:0009260
GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis, affecting multiple body systems including the central nervous system and...
MONDO:0009261
GM1 gangliosidosis type 2 is a lysosomal storage disorder that affects multiple organ systems, most the brain, skeleton, and liver. It results from pa...
MONDO:0009262
GM1 gangliosidosis type 3 is a chronic, mild form of GM1 gangliosidosis that primarily affects the nervous system, especially the cerebellum, and the...
MONDO:0017720
GM2 gangliosidosis is a group of recessively inherited diseases characterized by the accumulation of GM2 ganglioside in neuronal cells due to mutation...
MONDO:0018274
GM3 synthase deficiency is a rare condition that affects brain development and causes recurrent seizures (epilepsy). In the first few weeks of life, i...
MONDO:0007679
GMS syndrome is an extremely rare condition that has been reported in one family so far. It is characterized by a combination of goniodysgenesis (an a...
MONDO:0035660
Information about overview is currently limited for this condition.
MONDO:0800392
GNAT2-related retinopathy is an inherited eye condition that affects the retina, the light-sensitive tissue at the back of the eye responsible for vis...
Built from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet, and 7 more public sources. Updated daily.