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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 7,741-7,760 of 10,888 diseases
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...
MONDO:0800156
MONDO:0019231
Inborn disorder of pentose phosphate metabolism is a metabolic condition that affects the pentose phosphate pathway, which is critical for cellular re...
MONDO:0019232
Inborn disorder of peptide metabolism is a condition that affects metabolic processes, potentially by impairing the breakdown of peptides in the body....
MONDO:0019235
Inborn disorder of phenylalanine and tyrosine metabolism is a condition that affects how the body processes these essential amino acids. Although deta...
MONDO:0017754
Inborn disorder of porphyrin metabolism is an inherited metabolic condition characterized by a disruption in the porphyrin-containing compound metabol...
MONDO:0017355
Inborn disorder of proline metabolism is an inherited metabolic condition characterized by a disruption in the proline metabolic process, a pathway es...
MONDO:0019236
The inborn disorder of purine metabolism is an inherited metabolic condition defined by a disruption in the purine nucleobase metabolic process. Varia...
Built from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet, and 7 more public sources. Updated daily.