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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.

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 3,461-3,480 of 10,888 diseases

Coffin-Siris syndrome

MONDO:0015452

Coffin-Siris syndrome (CSS) is a very rare congenital condition that affects multiple body systems and is present from birth. It is best known for und...

SMARCB1ARID1BSMARCE1+7

Coffin-Siris syndrome 1

MONDO:0007617

Coffin-Siris syndrome 1 is a rare genetic condition caused by a mutation in the ARID1B gene. This condition is one form of Coffin-Siris syndrome, and...

Coffin-Siris syndrome 10

MONDO:0032791

Coffin-Siris syndrome 10 (also known as CSS10) is a rare genetic condition that is recognized in genetic databases such as OMIM (OMIM:618506) and GARD...

Coffin-Siris syndrome 11

MONDO:0032912

Coffin-Siris syndrome 11 (also known as CSS11) is a rare condition that is noted in medical records with the identifier OMIM:618779. While detailed de...

Coffin-Siris syndrome 12

MONDO:0025699

Coffin-Siris syndrome 12 (CSS12) is a rare genetic condition associated with changes in the BICRA gene. It is recognized in the OMIM database (OMIM:61...

Coffin-Siris syndrome 5

MONDO:0014838

Coffin-Siris syndrome 5 is a condition that affects multiple body systems and is specifically caused by mutations in the SMARCE1 gene. This syndrome i...

Coffin-Siris syndrome 6

MONDO:0033492

Coffin-Siris syndrome 6 is a rare genetic condition that is part of the Coffin-Siris syndrome group. It is caused by a mutation in the ARID2 gene. Thi...

Coffin-Siris syndrome 7

MONDO:0054831

Coffin-Siris syndrome 7 is a rare condition that is part of the Coffin-Siris syndrome spectrum. This condition is specifically linked to a mutation in...

Coffin-Siris syndrome 8

MONDO:0032702

Coffin-Siris syndrome 8 is a genetic condition caused by a mutation in the SMARCC2 gene. It belongs to a group of disorders known as Coffin-Siris synd...

COFS syndrome

MONDO:0008926

COFS syndrome is a rare genetic disorder that affects many parts of the body. It belongs to a group of disorders related to DNA repair and is marked b...

ERCC5ERCC2ERCC1+1

COG1-congenital disorder of glycosylation

MONDO:0012637

COG1-congenital disorder of glycosylation (COG1-CDG) is an extremely rare form of congenital disorder of glycosylation. It has been reported in a few...

COG4-congenital disorder of glycosylation

MONDO:0013281

COG4-CDG is a very rare genetic condition that affects the way glycoproteins are formed in the body. It is classified under the congenital disorders o...

COG5-congenital disorder of glycosylation

MONDO:0013325

COG5-congenital disorder of glycosylation (COG5-CDG) is an extremely rare condition that affects glycosylation, a process that helps form important mo...

COG6-congenital disorder of glycosylation

MONDO:0013810

COG6-congenital disorder of glycosylation, also known as CDG syndrome type IIL, is a rare inherited condition. It is linked to changes in the COG6 gen...

COG7-congenital disorder of glycosylation

MONDO:0012118

COG7-congenital disorder of glycosylation (COG7-CDG) is a rare genetic condition that affects the body’s process of adding sugar molecules to proteins...

COG8-congenital disorder of glycosylation

MONDO:0012635

Congenital Disorders of Glycosylation (CDG) are a group of genetic conditions that affect the body's ability to create glycoproteins. In COG8-congenit...

Cogan-Reese syndrome

MONDO:0020370

Cogan-Reese syndrome is a specific form of iridocorneal endothelial (ICE) syndrome. In people with this condition, changes can happen in the iris and...

Cogan syndrome

MONDO:0015453

Cogan syndrome is a rare autoimmune disorder of unknown origin. It is mainly known for causing inflammation in the eyes, most often affecting the corn...

cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome

MONDO:0014609

This condition is a complex, multisystem disorder characterized by cognitive challenges together with distinctive facial features, heart defects, grow...

Cohen-Gibson syndrome

MONDO:0060510

Cohen-Gibson syndrome, also known as COGIS, is a rare genetic condition that is referenced in several medical databases including OMIM, Orphanet, and...

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