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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 961-980 of 10,888 diseases

Andersen-Tawil syndrome

MONDO:0008222

Andersen-Tawil syndrome is a multisystem disorder that primarily affects the cardiovascular, muscular, and skeletal systems. It is characterized by ep...

androgenetic alopecia

MONDO:0005339

Androgenetic alopecia, commonly known as male pattern baldness, is a condition characterized by a gradual thinning of hair that most often affects the...

androgen insensitivity syndrome

MONDO:0019154

Androgen insensitivity syndrome (AIS) is a disorder of sex development in which individuals with a 46,XY karyotype exhibit female or ambiguous externa...

anemia, congenital dyserythropoietic, type 1a

MONDO:0009135

Anemia, congenital dyserythropoietic, type 1a is a disorder affecting red blood cell development, leading to hemolytic anemia and other characteristic...

Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive

MONDO:0030711

Anemia, congenital dyserythropoietic, type IIIb is a disorder affecting the blood and immune system that is characterized by abnormal red blood cell d...

anemia, congenital dyserythropoietic, type IVb

MONDO:0975829

Congenital dyserythropoietic anemia type IVb is associated with variants in the KLF1 gene, which plays a crucial role in erythropoiesis. However, the...

anemia due to enzyme disorder

MONDO:0020584

Anemia due to enzyme disorder is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

anemia due to erythrocyte enzyme disorder

MONDO:0020585

anemia due to erythrocyte enzyme disorder is an extremely rare condition. Because few cases have been documented, detailed clinical information is lim...

anemia, hypochromic microcytic with iron overload

MONDO:0000104

anemia, hypochromic microcytic with iron overload is an extremely rare condition. Because few cases have been documented, detailed clinical informatio...

anemia, nonspherocytic hemolytic

MONDO:0000105

anemia, nonspherocytic hemolytic is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane

MONDO:0008789

anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane is an extremely rare condition. Because few cases have been documen...

anemia, nonspherocytic hemolytic, due to G6PD deficiency

MONDO:0010480

Anemia, nonspherocytic hemolytic, due to G6PD deficiency is a condition in which a significant reduction in the activity of the glucose-6-phosphate de...

anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism

MONDO:0008790

anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism is an extremely rare condition. Because few cases have been documente...

anemia of prematurity

MONDO:0001239

Anemia of prematurity is a blood disorder that occurs in premature neonates and is characterized by low hemoglobin levels. It arises from a combinatio...

anemia, sideroblastic, 5

MONDO:0030436

Anemia, sideroblastic, 5 is a hereditary condition that affects blood cell production, resulting in forms of anemia characterized by abnormal iron acc...

anencephaly 1

MONDO:0008791

Anencephaly 1 is a severe neural tube defect characterized by the absence or severe reduction of the cranial vault and brain tissue. This condition is...

ANE syndrome

MONDO:0012794

ANE syndrome is a rare neuro‐endocrino‐cutaneous disorder that affects multiple organ systems, including the endocrine, nervous, musculoskeletal, and...

aneuploidy

MONDO:0700064

Aneuploidy is a chromosomal disorder characterized by an abnormal number of chromosomes, resulting in a loss or addition within a complete set. Severa...

aneurysmal bone cyst

MONDO:0018815

Aneurysmal bone cyst is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

aneurysm, intracranial berry, 10

MONDO:0012950

Aneurysm, intracranial berry, 10 is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

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