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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.

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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 4,121-4,140 of 10,888 diseases

conotruncal heart malformations

MONDO:0016581

Conotruncal heart malformations refer to a group of congenital anomalies affecting the outflow tracts of the heart, which can include conditions such...

GATA6NKX2-5NKX2-6+1

constitutional megaloblastic anemia with severe neurologic disease

MONDO:0013456

Constitutional megaloblastic anemia with severe neurologic disease is a very rare inherited condition that affects blood formation and neurological fu...

constitutional neutropenia

MONDO:0015134

Constitutional neutropenia is a rare condition that primarily affects the immune system by leading to an abnormally low number of neutrophils in the p...

AP3B1USB1ELANE+7

continuous spikes and waves during sleep

MONDO:0019123

Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood that primarily affects the brain. It is characterized...

contractures-developmental delay-Pierre Robin syndrome

MONDO:0018571

contractures-developmental delay-Pierre Robin syndrome is a very rare condition that is characterized by joint contractures and developmental delays,...

contractures-ectodermal dysplasia-cleft lip/palate syndrome

MONDO:0010531

Contractures-ectodermal dysplasia-cleft lip/palate syndrome is an ectodermal dysplasia syndrome that affects the musculoskeletal, craniofacial, and sk...

contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A

MONDO:0008338

Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A is a condition primarily affecting the musculoskeletal system, characterized by joi...

contractures, pterygia, and variable skeletal fusions syndrome

MONDO:0020937

Contractures, pterygia, and variable skeletal fusions syndrome is a condition that affects the musculoskeletal system, manifesting with joint contract...

contractures, pterygia, and variable skeletal fusions syndrome 1B

MONDO:0020746

Contractures, pterygia, and variable skeletal fusions syndrome 1B is a congenital condition primarily affecting skeletal development, with characteris...

contractures - webbed neck - micrognathia - hypoplastic nipples syndrome

MONDO:0017788

Contractures - webbed neck - micrognathia - hypoplastic nipples syndrome, also known as Dinno syndrome, is a condition characterized by distinct physi...

conus spinal cord lipoma

MONDO:0958350

Conus spinal cord lipoma is a rare dysraphic malformation characterized by abnormal fatty tissue located wholly or partially at the conus of the spina...

conventional angiosarcoma

MONDO:0003025

Conventional angiosarcoma is a malignant tumor of blood vessel origin, characterized by the presence of spindle-shaped endothelial cells. This conditi...

conventional fibrosarcoma

MONDO:0002677

Conventional fibrosarcoma is a malignant tumor originating from fibroblasts, characterized by collagen production and a distinctive herringbone archit...

conventional leiomyosarcoma

MONDO:0003348

Conventional leiomyosarcoma is an uncommon and aggressive malignant tumor that arises from smooth muscle cells in soft tissues. It is characterized by...

conventional malignant hemangiopericytoma

MONDO:0003800

Conventional malignant hemangiopericytoma is a cancerous tumor that arises from cells associated with blood vessels and is characterized by areas of t...

conventional osteosarcoma

MONDO:0002631

Conventional osteosarcoma is a high-grade malignant bone tumor that originates in the medullary portion of the long bones, most commonly affecting are...

Cooks syndrome

MONDO:0007134

Cooks syndrome is a malformation syndrome that affects the fingertips and nails. It is characterized by the underdevelopment or absence of nails and t...

Cooper-Jabs syndrome

MONDO:0008850

Cooper-Jabs syndrome is a rare multiple malformation syndrome that was described in two sisters. People with this condition have atresia of the audito...

COQ7-related distal hereditary motor neuropathy

MONDO:0958129

Information about overview is currently limited for this condition.

core binding factor acute myeloid leukemia

MONDO:0850269

Core binding factor acute myeloid leukemia is a subtype of blood cancer that arises from the bone marrow and affects the blood-forming system. It is d...

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