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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 3,361-3,380 of 10,888 diseases
MONDO:0017972
Classic congenital lipoid adrenal hyperplasia due to STAR deficency is a condition that primarily affects adrenal function, resulting in impaired ster...
MONDO:0004455
Classic congenital mesoblastic nephroma is a kidney tumor that is typically present at birth and is characterized by bundles of fibrous tissue with lo...
MONDO:0054835
Classic dopamine transporter deficiency syndrome is an inherited neurological disorder that presents in early infancy. It is caused by pathogenic vari...
MONDO:0850048
Classic eosinophilic pustular folliculitis is an inflammatory skin condition primarily affecting the hair follicles. While the precise cause is not ye...
MONDO:0021055
Classic familial adenomatous polyposis (FAP) is a condition affecting the large intestine and is characterized by the development of hundreds to thous...
MONDO:0009258
Classic galactosemia is a severe metabolic disorder that presents in the neonatal period and affects the body’s ability to properly process galactose....
MONDO:0009352
Classic homocystinuria is a metabolic condition that affects multiple body systems, including the eyes, skeleton, nervous system, and blood vessels. I...
MONDO:0022772
Classic Kaposi sarcoma is a vascular sarcoma that primarily affects the skin of the lower extremities. It is characterized by the appearance of purple...
MONDO:0015146
Classic lissencephaly is a congenital brain malformation characterized by an abnormally smooth cerebral surface due to disrupted neuronal migration. I...
MONDO:0017051
Classic maple syrup urine disease (classic MSUD) is a metabolic disorder that impairs the breakdown of branched-chain amino acids, leading to the accu...
MONDO:0016712
Classic medulloblastoma is a malignant embryonal tumor that arises in the midline region of the brain, most often affecting children. It is recognized...
MONDO:0017939
Classic multiminicore myopathy is a congenital muscle disorder characterized by muscle weakness and reduced endurance. The condition primarily affects...
MONDO:0018016
Classic neuroendocrine tumor of the appendix is a type of endocrine tumor affecting the appendix, most commonly discovered in individuals before the f...
MONDO:0021057
Classic or attenuated familial adenomatous polyposis is an inherited condition characterized by the development of numerous adenomas in the colon and...
MONDO:0019215
Classic organic aciduria is a metabolic condition that affects the normal processing of organic acids in the body. Although specific clinical features...
MONDO:0016304
Classic pantothenate kinase-associated neurodegeneration is a neurological condition that is also known by names such as NBIA1 and PKAN. The underlyin...
MONDO:0015590
Classic paraneoplastic limbic encephalitis is a rare neuroimmunological disorder that affects the brain’s limbic system and is typically associated wi...
MONDO:0019259
Classic phenylketonuria (PKU) is a metabolic condition in which the body is unable to process the amino acid phenylalanine, leading to its accumulatio...
MONDO:0003128
Classic pulmonary blastoma is a rare lung tumor that is characterized by a mixture of irregular tubular structures and mesenchymal elements. This tumo...
MONDO:0035235
Classic pyoderma gangrenosum is a rare subtype of a skin disorder characterized by rapidly progressive and painful ulcers, most often affecting the le...
Built from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet, and 7 more public sources. Updated daily.