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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.

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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 8,401-8,420 of 10,888 diseases

Joubert syndrome 1

MONDO:0008944

Joubert syndrome 1 is a rare genetic disorder that is a specific form of Joubert syndrome. This condition occurs when there is a mutation in the INPP5...

Joubert syndrome 10

MONDO:0010431

Joubert syndrome 10 is a rare condition that is part of the Joubert syndrome family. It is defined as any case of Joubert syndrome where the cause is...

Joubert syndrome 11

MONDO:0800382

Joubert syndrome 11 is a rare disease. Detailed information about this condition is currently limited in medical literature.

Joubert syndrome 13

MONDO:0013608

Joubert syndrome 13 is a rare condition that is a part of the Joubert syndrome group. This condition is identified by changes in the TCTN1 gene. It is...

Joubert syndrome 14

MONDO:0013745

Joubert syndrome 14 is a rare genetic condition that is part of the Joubert syndrome family. It is specifically caused by a mutation in the TMEM237 ge...

Joubert syndrome 15

MONDO:0013763

Joubert syndrome 15 is a rare genetic condition that is part of the Joubert syndrome group. This condition is caused when there is a mutation in the C...

Joubert syndrome 16

MONDO:0013764

Joubert syndrome 16 is a rare form of Joubert syndrome caused by a mutation in the TMEM138 gene. The condition is recognized as one of several types o...

Joubert syndrome 17

MONDO:0013824

Joubert syndrome 17 is a type of Joubert syndrome that occurs due to a mutation in the CPLANE1 gene. This condition is one of several types of Joubert...

Joubert syndrome 18

MONDO:0013896

Joubert syndrome 18 is a rare genetic condition that is part of the Joubert syndrome spectrum. It is defined by the presence of a mutation in the TCTN...

Joubert syndrome 19

MONDO:0800363

Joubert syndrome 19 is a rare disease. Detailed information about this condition is currently limited in medical literature.

Joubert syndrome 2

MONDO:0011963

Joubert syndrome 2 is a form of Joubert syndrome that occurs when there is a mutation in the TMEM216 gene. This condition is part of a group of disord...

Joubert syndrome 20

MONDO:0013994

Joubert syndrome 20 is a rare condition that is a part of the Joubert syndrome group. This particular form is caused by a mutation in the TMEM231 gene...

Joubert syndrome 21

MONDO:0014288

Joubert syndrome 21 is a rare genetic condition where a mutation in the CSPP1 gene leads to the development of the disease. It is one of the types of...

Joubert syndrome 22

MONDO:0014297

Joubert syndrome 22 is a rare genetic condition that is a type of Joubert syndrome. It is caused by a mutation in the PDE6D gene, which impacts normal...

Joubert syndrome 23

MONDO:0014664

Joubert syndrome 23 is a rare genetic condition that is part of the Joubert syndrome group. This condition is caused by a mutation in the KIAA0586 gen...

Joubert syndrome 24

MONDO:0014724

Joubert syndrome 24 is a type of Joubert syndrome that occurs due to a mutation in the TCTN2 gene. Joubert syndrome is a rare condition that affects b...

Joubert syndrome 25

MONDO:0014770

Joubert syndrome 25 is a form of Joubert syndrome where the cause is a mutation in the CEP104 gene. Joubert syndrome refers to a group of conditions t...

Joubert syndrome 26

MONDO:0014771

Joubert syndrome 26 is a rare genetic condition that is part of the Joubert syndrome spectrum. It is defined by a mutation in the KIAA0556 gene, which...

Joubert syndrome 27

MONDO:0014927

Joubert syndrome 27 is a type of Joubert syndrome that is caused by a mutation in the B9D1 gene. Joubert syndrome is a group of rare, genetic disorder...

Joubert syndrome 28

MONDO:0014928

Joubert syndrome 28 is a rare genetic condition that is part of the Joubert syndrome family. It is caused by a mutation in the MKS1 gene. Joubert synd...

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