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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 3,861-3,880 of 10,888 diseases

congenital generalized lipodystrophy type 1

MONDO:0012071

Congenital generalized lipodystrophy type 1 is an inherited condition characterized by a near total lack of adipose tissue and associated metabolic ab...

congenital generalized lipodystrophy type 2

MONDO:0010020

Congenital generalized lipodystrophy type 2 is a condition characterized by a near-total lack of subcutaneous fat and severe metabolic abnormalities....

congenital generalized lipodystrophy type 3

MONDO:0012923

Congenital generalized lipodystrophy type 3 is a condition characterized by an abnormal distribution of body fat due to disruptions in adipose tissue...

congenital generalized lipodystrophy type 4

MONDO:0013225

Congenital generalized lipodystrophy type 4 is a condition characterized by a generalized loss of adipose tissue combined with distinctive muscle abno...

congenital genu flexum

MONDO:0017561

Congenital genu flexum is a condition affecting knee alignment that is noticeable from birth, where the lower limb remains in a persistently bent posi...

congenital genu recurvatum

MONDO:0017560

Congenital genu recurvatum is a condition characterized by an abnormal backward alignment of the knee due to a deformity in the knee joint. It is a mu...

congenital Gerbode defect

MONDO:0020428

Congenital Gerbode defect is a heart condition characterized by an abnormal communication between the left ventricle and the right atrium. This defect...

congenital glaucoma

MONDO:0020366

Congenital glaucoma is a developmental condition affecting the eye, resulting from an abnormal formation of the drainage structures that regulate intr...

congenital heart block

MONDO:0009326

Congenital heart block is a condition characterized by a disruption in the electrical signals of the heart, leading to varying degrees of atrioventric...

congenital heart defect-round face-developmental delay syndrome

MONDO:0010039

Congenital heart defect-round face-developmental delay syndrome is a very rare condition characterized by congenital heart disease, a distinctive roun...

congenital heart defects and skeletal malformations syndrome

MONDO:0060532

Congenital heart defects and skeletal malformations syndrome is a multi-system condition characterized by abnormalities affecting the heart and the sk...

congenital heart defects, dysmorphic facial features, and intellectual developmental disorder

MONDO:0044302

This condition is characterized by congenital heart defects, distinctive facial features, and significant neurodevelopmental challenges, including int...

congenital heart defects, multiple types, 1, X-linked

MONDO:0800321

Congenital heart defects, multiple types, 1, X-linked is a condition affecting the structure and function of the heart. It is characterized by a spect...

congenital heart defects, multiple types, 2

MONDO:0014000

Congenital heart defects, multiple types, 2 is a condition affecting the structure and function of the heart present from birth. This condition result...

congenital heart defects, multiple types, 4

MONDO:0014344

Congenital heart defects, multiple types, 4 is a condition affecting the structure of the heart that is present from birth. This condition results fro...

congenital heart defects, multiple types, 6

MONDO:0013463

Congenital heart defects, multiple types, 6 is a condition affecting the heart, specifically involving a dextro-looped transposition of the great arte...

congenital hemangioma

MONDO:0018715

Congenital hemangioma is a vascular tumor that is fully formed at birth and is distinguished by its immediate presentation rather than a gradual appea...

congenital hematological disorder

MONDO:0009332

Congenital hematological disorder is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

ADAMTS13ALBPIGM+7

congenital hereditary endothelial dystrophy of cornea

MONDO:0009019

Congenital hereditary endothelial dystrophy of cornea is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appeara...

congenital hereditary endothelial dystrophy type I

MONDO:0020365

Congenital hereditary endothelial dystrophy type I is a rare disorder primarily affecting the cornea, the clear front surface of the eye. It is charac...

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