Trusted information across 10,888 rare diseases — plain language, always cited, free for everyone.
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Data syncs range from 3x daily (news) to weekly (trials, FDA). Reports regenerate when data changes.
Showing 9,181-9,200 of 10,888 diseases
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...
MONDO:0019254
Inborn disorder of purine or pyrimidine metabolism is a condition affecting the body’s ability to process essential components of DNA and RNA. Althoug...
MONDO:0019237
Inborn disorder of pyridoxine metabolism is an inherited metabolic condition characterized by a disruption in the pyridoxine (vitamin B6) metabolic pr...
MONDO:0019238
Inborn disorder of pyrimidine metabolism is a metabolic condition affecting the pyrimidine nucleobase pathways that are essential for normal cellular...
MONDO:0019239
The inborn disorder of serine family metabolism is an inherited metabolic condition characterized by a disruption in the serine family amino acid meta...
MONDO:0019241
Inborn disorder of the gamma-glutamyl cycle is a metabolic condition affecting the body’s ability to regulate a key biochemical pathway involved in gl...
MONDO:0800154
MONDO:0017350
Inborn disorder of tryptophan metabolism is an inherited metabolic condition characterized by disruption of the biochemical pathway responsible for th...
MONDO:0020698
Inborn error of biotin metabolism is a metabolic condition in which the body’s ability to process biotin, an essential B vitamin, is disrupted. This c...
MONDO:0003778
Inborn errors of immunity (IEI) represent a diverse group of disorders characterized by an inadequate immune response. Known genetic contributors incl...
MONDO:0019052
Inborn errors of metabolism are a group of inherited disorders caused by enzyme defects that disrupt normal biochemical and metabolic pathways involve...
MONDO:0010613
MONDO:0004689
Inborn metal metabolism disorder is an inherited metabolic condition that disrupts the normal processing and distribution of dietary minerals. This di...
MONDO:0004069
Inborn mitochondrial metabolism disorders are caused by abnormal mitochondrial function, resulting from mutations in mitochondrial DNA or nuclear gene...
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