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Rare Disease Intelligence — 10,888 conditions monitored | Kisho | Kisho

Open data · 12 authoritative sources

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What’s known, in plain language.

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.

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Commonly searched:Cystic Fibrosis Duchenne Huntington's ALS Sickle Cell

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12

authoritative sources — clinical, regulatory, scientific

10,888

rare conditions, continuously monitored

Daily

updates from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet…

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Showing 2,121-2,140 of 10,888 diseases

bilateral parasagittal parieto-occipital polymicrogyria

MONDO:0012986

Bilateral parasagittal parieto-occipital polymicrogyria is a neurological condition characterized by an abnormal development of the brain’s cerebral c...

bilateral perisylvian polymicrogyria

MONDO:0020340

bilateral perisylvian polymicrogyria is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

bilateral polymicrogyria

MONDO:0017091

Bilateral polymicrogyria is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

bilateral renal agenesis

MONDO:0015986

Bilateral renal agenesis is an extremely rare condition characterized by the complete absence of kidney development and absent ureters, leading to a l...

bilateral renal agenesis dominant type

MONDO:0022572

Bilateral renal agenesis dominant type is an extremely rare condition. Because few cases have been documented, detailed clinical information is limite...

bilateral retinoblastoma

MONDO:0003075

Bilateral retinoblastoma is a type of cancer that affects both eyes, often associated with inherited genetic variants. While no specific genes have be...

bilateral striopallidodentate calcinosis

MONDO:0008947

Bilateral striopallidodentate calcinosis is an extremely rare condition. Because few cases have been documented, detailed clinical information is limi...

JAM2NAA60CMPK2+5

bile acid CoA:amino acid N-acyltransferase deficiency

MONDO:0100305

Bile acid CoA:amino acid N-acyltransferase deficiency is an extremely rare condition. Because few cases have been documented, detailed clinical inform...

bile acid CoA ligase deficiency and defective amidation

MONDO:0017165

Bile acid CoA ligase deficiency and defective amidation is an extremely rare condition. Because few cases have been documented, detailed clinical info...

bile duct adenocarcinoma

MONDO:0003193

Bile duct adenocarcinoma is a malignant tumor that arises from the glandular epithelial cells of the bile duct. It is classified as a form of carcinom...

bile duct cancer

MONDO:0003059

Bile duct cancer is a malignant neoplasm arising in the bile ducts, a critical part of the body's system for transporting bile from the liver to the i...

bile duct carcinoma

MONDO:0005496

Bile duct carcinoma is a malignant tumor that originates from the epithelial cells lining the bile duct. It is a form of cancer affecting the biliary...

bile duct carcinoma in situ

MONDO:0000374

Bile duct carcinoma in situ is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

bile duct cyst

MONDO:0018805

Bile duct cyst is a condition characterized by a cystic dilatation of the hepatic or bile duct. It is considered a congenital disorder, meaning it is...

bile duct sarcoma

MONDO:0002862

Bile duct sarcoma is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

biliary atresia

MONDO:0008867

Biliary atresia is a rare biliary tract disease characterized by the progressive obliteration of the intra- and extrahepatic bile ducts, leading to se...

biliary atresia intrahepatic non syndromic form

MONDO:0022573

Biliary atresia intrahepatic non syndromic form is an extremely rare condition. Because few cases have been documented, detailed clinical information...

biliary atresia intrahepatic syndromic form

MONDO:0022574

Biliary atresia intrahepatic syndromic form is an extremely rare condition. Because few cases have been documented, detailed clinical information is l...

biliary atresia with splenic malformation syndrome

MONDO:0016577

Biliary atresia with splenic malformation syndrome (BASM) is characterized by the combination of biliary atresia and splenic abnormalities, primarily...

biliary cystadenocarcinoma

MONDO:0018535

Biliary cystadenocarcinoma is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

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