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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 3,541-3,560 of 10,888 diseases

colorectal cancer, susceptibility to, 8

MONDO:0012951

Colorectal cancer, susceptibility to, 8 is a condition that predisposes individuals to developing colorectal cancer. Although the specific genetic fac...

colorectal cancer, susceptibility to, 9

MONDO:0012952

Colorectal cancer, susceptibility to, 9 describes a predisposition to developing colorectal cancer that is thought to arise from complex interactions...

colorectal cancer, susceptibility to, on chromosome 15

MONDO:0800424

Colorectal cancer, susceptibility to, on chromosome 15, refers to an increased risk of developing colorectal cancer rather than a distinct form of can...

colorectal diffuse large B-cell lymphoma

MONDO:0006158

Colorectal diffuse large B-cell lymphoma (DLBCL) is a subtype of diffuse large B-cell lymphoma that originates in the colon or rectum. Currently, no s...

colorectal Kaposi sarcoma

MONDO:0024659

Colorectal Kaposi sarcoma is a type of malignancy that arises in the colon or rectum and falls within the broader spectrum of vascular tumors. It affe...

colorectal lymphoma

MONDO:0024656

Colorectal lymphoma is an extranodal lymphoma that arises from the colon or rectum, most often manifesting as a type of B-cell non-Hodgkin lymphoma. T...

colorectal neuroendocrine tumor G1

MONDO:0006162

Colorectal neuroendocrine tumor G1 is a well differentiated, low grade neoplasm that arises from the colon or rectum. It is characterized by a low mit...

columnar cell variant thyroid gland papillary carcinoma

MONDO:0004102

Columnar cell variant thyroid gland papillary carcinoma is a morphologic variant of thyroid cancer marked by pseudostratified malignant follicular cel...

combined ApoA-I and ApoC-III deficiency

MONDO:0100188

Combined ApoA-I and ApoC-III deficiency is a disorder affecting lipid metabolism that leads to abnormally low levels of high-density lipoprotein, a ke...

combined cervical dystonia

MONDO:0018267

Combined cervical dystonia is a movement disorder affecting the neck muscles, leading to abnormal posturing and involuntary contractions. Although the...

combined deficiency of factor V and factor VIII

MONDO:0018175

Combined deficiency of factor V and factor VIII is an inherited bleeding disorder characterized by reduced activity and antigen levels of two essentia...

combined deficiency of factor VII and factor X

MONDO:0035776

Combined deficiency of factor VII and factor X is a bleeding disorder that affects the blood coagulation system. Due to the rarity of the condition, w...

combined dystonia

MONDO:0020065

Combined dystonia, also referred to as dystonia-plus syndrome, is a movement disorder in which involuntary muscle contractions and abnormal posturing...

PRKRATAF1ATP1A3

combined hamartoma of the retina and retinal pigment epithelium

MONDO:0018607

Combined hamartoma of the retina and retinal pigment epithelium is a rare ocular condition affecting the retina and the underlying pigment epithelium....

combined hepatocellular carcinoma and cholangiocarcinoma

MONDO:0044791

Combined hepatocellular carcinoma and cholangiocarcinoma is a rare form of liver cancer that displays features of both hepatocellular carcinoma and ch...

combined hyperactive dysfunction syndrome of the cranial nerves

MONDO:0016371

Combined hyperactive dysfunction syndrome of the cranial nerves is a neurological condition that appears to affect the function of multiple cranial ne...

combined immunodeficiency

MONDO:0015131

Combined immunodeficiency is a broad category of inherited disorders that impair both cell-mediated and humoral immune responses, leading to significa...

CD3GCTPS1MALT1+7

combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia

MONDO:0060611

Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia is a multi-system condition that affects both the immune and h...

combined immunodeficiency due to CD3gamma deficiency

MONDO:0014276

Combined immunodeficiency due to CD3gamma deficiency is an extremely rare inherited condition that affects the immune system by impairing the CD3 comp...

combined immunodeficiency due to CRAC channel dysfunction

MONDO:0015695

Combined immunodeficiency due to CRAC channel dysfunction is a complex disorder that affects the immune system as well as muscle and skin structures....

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