Trusted information across 10,888 rare diseases — plain language, always cited, free for everyone.
Can't find your disease? Try searching by gene, symptom, or OMIM ID.
Every report passes a 3-tier quality pipeline with gene validation, fact-checking, and safety checks.
Built from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet, and more. Every claim is cited.
Data syncs range from 3x daily (news) to weekly (trials, FDA). Reports regenerate when data changes.
Showing 9,161-9,180 of 10,888 diseases
MONDO:0019216
Inborn disorder of amino acid transport is a condition that interferes with the body’s ability to absorb and transport amino acids. While specific cli...
MONDO:0037938
Inborn disorder of aspartate family metabolism is an inherited metabolic condition characterized by a disruption in the aspartate family amino acid me...
MONDO:0019218
Inborn disorder of bile acid synthesis is a group of metabolic conditions that arise from enzyme deficiencies affecting the production of bile acids....
MONDO:0017755
Inborn disorder of bilirubin metabolism is an inherited condition that affects the body’s ability to process bilirubin, a substance produced during th...
MONDO:0019250
Inborn disorder of biogenic amine metabolism and transport is a condition that affects the body’s handling of biogenic amines, which serve as crucial...
MONDO:0019242
Inborn disorder of branched-chain amino acid metabolism is an inherited metabolic condition that stems from disruptions in the pathways processing bra...
MONDO:0019220
Inborn disorder of cobalamin metabolism and transport is an inherited metabolic disease that affects how vitamin B12, or cobalamin, is absorbed in the...
MONDO:0019243
Inborn disorder of energy metabolism is an inherited metabolic condition characterized by a disruption in the generation of precursor metabolites and...
MONDO:0800158
MONDO:0800155
MONDO:0017748
Inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation is a condition that affects the processes involved in attac...
MONDO:0019228
MONDO:0019229
Inborn disorder of ketolysis is an inherited metabolic condition characterized by a disruption in the ketone body catabolic process. This condition is...
MONDO:0017351
Inborn disorder of lysine and hydroxylysine metabolism is a condition that affects the body’s ability to process the amino acid lysine and its derivat...
MONDO:0800157
The inborn disorder of lysine, hydroxylysine, and tryptophan metabolism is a metabolic condition characterized by disruptions in the normal processing...
MONDO:0019246
Inborn disorder of lysosomal amino acid transport is a condition affecting the cellular process of transporting amino acids within lysosomes. The prec...
MONDO:0019222
Inborn disorder of methionine cycle and sulfur amino acid metabolism is an inherited metabolic condition marked by disruptions in the sulfur amino aci...
MONDO:0019219
Inborn disorder of neurotransmitter metabolism and transport is a condition that affects the way chemical messengers are processed and moved within th...
MONDO:0017356
Inborn disorder of ornithine metabolism is an inherited metabolic condition that disrupts the normal processing of ornithine. Pathogenic variants in t...
MONDO:0019230
Inborn disorder of ornithine or proline metabolism is a metabolic condition that affects the body’s ability to properly process these amino acids. The...
Create a free account to follow diseases and receive weekly updates on clinical trials, FDA decisions, and research news. Free forever.
Already have an account? Sign in
Organizations use Kisho to generate AI research reports, collaborate with their team, and publish directly to WordPress — all powered by the same data you see here.
Know something that's missing or incorrect? Suggest a Correction · Share Your Story