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

Open data · 12 authoritative sources

Find your disease.
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.

Search by:Disease•Gene•Symptom•Treatment•PAG•OMIM/Orphanet ID

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 7,881-7,900 of 10,888 diseases

inherited blood coagulation disorder

MONDO:0021181

Inherited blood coagulation disorder is a condition that affects the blood’s ability to clot normally, which can lead to complications from either exc...

inherited Creutzfeldt-Jakob disease

MONDO:0007403

Inherited Creutzfeldt-Jakob disease is a familial form of prion disease that primarily affects the brain, leading to rapid neurological decline includ...

inherited cutis laxa

MONDO:0100237

Inherited cutis laxa is an inherited condition characterized by abnormalities in the skin’s elasticity and the structure of connective tissue. Althoug...

PYCR1GORABRIN2+5

inherited distal renal tubular acidosis

MONDO:1060161

Inherited distal renal tubular acidosis is a condition affecting the kidney’s ability to properly acidify urine, leading to disturbances in the body’s...

inherited dystonia

MONDO:0044807

Inherited dystonia is a type of dystonic disorder that results from an inherited alteration in the individual’s genome. It is characterized by abnorma...

TSPOAP1DCAF17NUP54+7

inherited epidermolysis bullosa

MONDO:0019276

Inherited epidermolysis bullosa is a group of disorders marked by recurrent blister formation due to inherent structural fragility of the skin and, in...

inherited Fanconi renotubular syndrome

MONDO:0100238

Inherited Fanconi renotubular syndrome is a condition that affects the kidney’s ability to reabsorb essential substances, leading to renal tubular dys...

inherited fatty acid metabolism disorder

MONDO:0037858

Inherited fatty acid metabolism disorder is a group of genetic conditions characterized by the body’s inability to properly oxidize fatty acids for en...

inherited focal segmental glomerulosclerosis

MONDO:0005363

Inherited focal segmental glomerulosclerosis (FSGS) is a kidney disorder linked to genetic variants in several genes, including TRPC6, ANLN, MYO1E, PA...

TRPC6ANLNMYO1E+4

inherited glutathione metabolism disease

MONDO:0040566

Inherited glutathione metabolism disease is an inherited metabolic condition characterized by a disruption in the glutathione metabolic process, which...

inherited glutathione synthetase deficiency

MONDO:0017909

Inherited glutathione synthetase deficiency is a metabolic condition that primarily affects the production of glutathione, a critical molecule for cel...

inherited hematologic cancer-predisposing syndrome

MONDO:0850064

inherited hemoglobinopathy

MONDO:0019050

Inherited hemoglobinopathy is an inherited disorder characterized by structural alterations in one of the globin chains of the hemoglobin molecule. Th...

inherited ichthyosis

MONDO:0015947

Inherited ichthyosis is a group of Mendelian disorders of cornification that affect most or all of the skin, leading to thickened, scaly, and hyperker...

KLK11STSSPINK5+1

inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency

MONDO:0017337

Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, chronic disorder that primarily affects adrenal function in earl...

inherited isolated nail anomaly

MONDO:0019284

COL7A1FZD6PLCD1+1

inherited lipid metabolism disorder

MONDO:0002525

Inherited lipid metabolism disorder is a genetic metabolic condition caused by an enzyme deficiency that hampers the oxidation of fatty acids for ener...

CYP11B2NR3C1CYP2R1+7

inherited lipoic acid biosynthesis defect

MONDO:0018424

Inherited lipoic acid biosynthesis defect is an inherited metabolic disorder caused by disruptions in the lipoate biosynthetic process. Genetic varian...

inherited neurodegenerative disorder

MONDO:0024237

The inherited neurodegenerative disorder is characterized by a progressive degeneration and atrophy of the nervous system. Although precise prevalence...

PRNPBSCL2ADPRS+7

inherited obesity

MONDO:0019182

Inherited obesity is a condition characterized by an abnormal accumulation of body fat due to genetic influences. It is associated with changes in gen...

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