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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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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 3,561-3,580 of 10,888 diseases

combined immunodeficiency due to CTPS1 deficiency

MONDO:0014391

Combined immunodeficiency due to CTPS1 deficiency is a very rare primary immunodeficiency disorder that affects the immune system by impairing the abi...

combined immunodeficiency due to DOCK8 deficiency

MONDO:0009478

Combined immunodeficiency due to DOCK8 deficiency is an inherited immune disorder characterized by defects in both T and B cell function. It is caused...

combined immunodeficiency due to GINS1 deficiency

MONDO:0044725

Combined immunodeficiency due to GINS1 deficiency is a severe immune disorder that also affects growth and development. Affected individuals exhibit m...

combined immunodeficiency due to LRBA deficiency

MONDO:0013863

Combined immunodeficiency due to LRBA deficiency is an inherited condition that affects the immune system, leading to both recurrent infections and au...

combined immunodeficiency due to MALT1 deficiency

MONDO:0014197

Combined immunodeficiency due to MALT1 deficiency is a rare primary immunodeficiency disorder that impacts multiple body systems including the immune,...

combined immunodeficiency due to moesin deficiency

MONDO:0010514

Combined immunodeficiency due to moesin deficiency is an immunological condition that compromises the body’s ability to defend against infections. It...

combined immunodeficiency due to ORAI1 deficiency

MONDO:0013007

Combined immunodeficiency due to ORAI1 deficiency is a very rare inherited condition caused by dysfunction of calcium release activated channels, whic...

combined immunodeficiency due to OX40 deficiency

MONDO:0014268

Combined immunodeficiency due to OX40 deficiency is a rare disorder affecting both T and B cell functions, leading to a compromised immune system. Aff...

combined immunodeficiency due to partial RAG1 deficiency

MONDO:0012359

Combined immunodeficiency due to partial RAG1 deficiency is a disorder affecting the immune system, where both T and B cell functions are compromised....

combined immunodeficiency due to POLE2 deficiency

MONDO:0800128

Combined immunodeficiency due to POLE2 deficiency is a disorder that primarily affects the immune system, leaving individuals more vulnerable to infec...

combined immunodeficiency due to RELA haploinsufficiency

MONDO:0035694

Combined immunodeficiency due to RELA haploinsufficiency is a disorder affecting the immune system, leading to an increased susceptibility to infectio...

combined immunodeficiency due to STIM1 deficiency

MONDO:0013008

Combined immunodeficiency due to STIM1 deficiency is a form of combined immunodeficiency that affects the immune system and other organ systems, and i...

combined immunodeficiency due to STK4 deficiency

MONDO:0013934

Combined immunodeficiency due to STK4 deficiency is a rare genetic disorder affecting both T and B cells, leading to a weakened immune system and a ra...

combined immunodeficiency due to TBX1 deficiency

MONDO:0975891

Combined immunodeficiency due to TBX1 deficiency is a disorder that affects the immune system, leading to a compromised ability to fight infections. A...

combined immunodeficiency due to ZAP70 deficiency

MONDO:0010023

Combined immunodeficiency due to ZAP70 deficiency is a very rare and severe immunological disorder that affects the immune system, leading to signific...

combined immunodeficiency syndrome

MONDO:0700289

Combined immunodeficiency syndrome is a condition characterized by an impaired immune system along with involvement of other organ systems. This condi...

combined immunodeficiency with faciooculoskeletal anomalies

MONDO:0013226

Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare immune disorder that affects multiple body systems, particularly the...

combined immunodeficiency with skin granulomas

MONDO:0009306

Combined immunodeficiency with skin granulomas is a disorder affecting the immune system and skin, where the body has difficulty fending off infection...

combined immunodeficiency, X-linked

MONDO:0010730

Combined immunodeficiency, X-linked, is caused by variants in the IL2RG gene, which plays a critical role in the immune system. This condition is inhe...

combined lung carcinoma

MONDO:0006167

Combined lung carcinoma is a malignant tumor of the lung characterized by the presence of both neuroendocrine cells and malignant glandular or squamou...

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