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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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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 4,701-4,720 of 10,888 diseases

diaphragmitis

MONDO:0020830

Diaphragmitis is a condition affecting the diaphragm, a critical muscle involved in breathing. Detailed descriptions regarding the biological basis an...

diaphyseal medullary stenosis-bone malignancy syndrome

MONDO:0007205

Diaphyseal medullary stenosis-bone malignancy syndrome is a very rare condition that involves abnormal bone development and an increased risk of devel...

diarrhea-vomiting due to trehalase deficiency

MONDO:0012803

Diarrhea-vomiting due to trehalase deficiency is a condition characterized by gastrointestinal distress, diarrhea and vomiting, following the ingestio...

diastematomyelia

MONDO:0009106

Diastematomyelia is a rare congenital abnormality in which the spinal cord is split by fibrous or bony tissue. It may appear as an isolated finding or...

diastrophic dysplasia

MONDO:0009107

Diastrophic dysplasia is a rare skeletal disorder characterized by short stature due to short extremities and joint malformations that frequently resu...

diazoxide-resistant diffuse hyperinsulinism

MONDO:0015625

Diazoxide-resistant diffuse hyperinsulinism is a condition characterized by recurrent episodes of severe low blood sugar resulting from uncontrolled i...

diazoxide-resistant focal hyperinsulinism

MONDO:0019265

Diazoxide-resistant focal hyperinsulinism is a form of hyperinsulinemic hypoglycemia characterized by episodes of profound low blood sugar due to a fo...

diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency

MONDO:0017188

Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency is a condition characterized by inappropriate insulin secretion that leads to episo...

diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency

MONDO:0017187

Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency is an endocrine condition characterized by inappropriate insulin secretion that leads...

diazoxide-resistant hyperinsulinism

MONDO:0017186

Diazoxide-resistant hyperinsulinism is a congenital condition affecting the pancreas where abnormal insulin secretion leads to profound, recurring epi...

diazoxide-sensitive diffuse hyperinsulinism

MONDO:0015624

Diazoxide-sensitive diffuse hyperinsulinism is a condition characterized by excessive insulin secretion leading to episodes of low blood sugar. Althou...

dicarboxylic aminoaciduria

MONDO:0009110

Dicarboxylic aminoaciduria is a metabolic condition that disrupts normal amino acid transport, leading to imbalances detectable from infancy. It is as...

DICER1-related tumor predisposition

MONDO:0100216

DICER1-related tumor predisposition is a condition caused by a change in the DICER1 gene. This change, known as a pathogenic germline variation, is pa...

didelphys uterus

MONDO:0015834

Didelphys uterus, also known as bicervical bicornuate uterus, is a congenital condition affecting the female reproductive system. This condition is ch...

didymosis aplasticosebacea

MONDO:0018259

Didymosis aplasticosebacea is an extremely rare condition, affecting fewer than 1 in a million people. The condition is also known as aplasia cutis co...

diencephalic astrocytomas

MONDO:0003169

Diencephalic astrocytomas are a type of brain tumor that arises in the diencephalon, a central part of the brain that includes structures such as the...

diencephalic-mesencephalic junction dysplasia

MONDO:0017868

Diencephalic-mesencephalic junction dysplasia is a very rare cerebral malformation that affects brain development and function. It is characterized by...

diencephalic-mesencephalic junction dysplasia syndrome 1

MONDO:0009625

Diencephalic-mesencephalic junction dysplasia syndrome 1 is a neurodevelopmental disorder that predominantly affects brain development and function. I...

diencephalic-mesencephalic junction dysplasia syndrome 2

MONDO:0020762

Diencephalic-mesencephalic junction dysplasia syndrome 2 is a complex neurodevelopmental disorder that primarily affects brain structure and function,...

diencephalic syndrome

MONDO:0015663

Diencephalic syndrome is a rare condition most characterized by profound emaciation and failure to thrive despite normal caloric intake and normal lin...

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Built from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet, and 7 more public sources. Updated daily.