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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 3,661-3,680 of 10,888 diseases

complement receptor deficiency

MONDO:0022812

Complement receptor deficiency is a condition characterized by a disruption in a complement receptor involved in the immune response. The exact factor...

complete androgen insensitivity syndrome

MONDO:0021023

Complete androgen insensitivity syndrome (CAIS) is a form of disorder of sex development in which individuals with a 46,XY karyotype develop typically...

complete atrioventricular canal

MONDO:0015273

Complete atrioventricular canal (CAVC), also known as complete atrioventricular septal defect, is a congenital heart defect characterized by a combine...

complete atrioventricular canal-left heart obstruction syndrome

MONDO:0020406

Complete atrioventricular canal-left heart obstruction syndrome is a congenital heart condition characterized by complex structural abnormalities that...

complete atrioventricular canal-tetralogy of fallot syndrome

MONDO:0020408

Complete atrioventricular canal-tetralogy of fallot syndrome is a complex congenital heart condition that combines features of a complete atrioventric...

complete atrioventricular canal-ventricle hypoplasia syndrome

MONDO:0020407

Complete atrioventricular canal-ventricle hypoplasia syndrome is a complex heart condition that affects the structure of the heart, particularly the r...

complete cryptophthalmia

MONDO:0020360

Complete cryptophthalmia is a congenital condition characterized by significant abnormalities in ocular development. Due to the limited data available...

complete hemimelia

MONDO:0850030

Complete hemimelia is a congenital condition in which part or the entirety of a limb segment is absent. Because detailed scientific definitions are no...

complete hydatidiform mole

MONDO:0016785

Complete hydatidiform mole is a gestational trophoblastic condition characterized by the abnormal proliferation of trophoblastic tissue and hydropic d...

complete septate uterus

MONDO:0015840

Complete septate uterus is a uterovaginal malformation in which the uterine cavity is divided by a longitudinal septum extending from the uterine fund...

complete trisomy 13

MONDO:0700033

Complete trisomy 13 is a chromosomal disorder in which every cell of the body contains an extra copy of chromosome 13. This condition is recognized at...

complete trisomy 18

MONDO:0700032

Complete trisomy 18 is a chromosomal disorder in which every cell of the body contains an extra copy of chromosome 18. This condition disrupts normal...

complete trisomy 21

MONDO:0700030

Complete trisomy 21 is a chromosomal condition characterized by the presence of an extra chromosome 21 in every cell. This condition falls under chrom...

complex cortical dysplasia with other brain malformations 1

MONDO:0013541

Complex cortical dysplasia with other brain malformations 1 is a neurological condition resulting from a mutation in the TUBB3 gene. This disorder aff...

complex cortical dysplasia with other brain malformations 7

MONDO:0012399

Complex cortical dysplasia with other brain malformations 7 is a severe neurodevelopmental disorder that primarily affects the structure and function...

complex hereditary spastic paraplegia

MONDO:0015150

Complex hereditary spastic paraplegia is a form of hereditary spastic paraplegia that occurs as part of a broader syndrome, where motor difficulties a...

PI4KARNF170ENTPD1+7

complex lethal osteochondrodysplasia

MONDO:0014821

Complex lethal osteochondrodysplasia is a severe skeletal disorder primarily affecting bone development and structure. The condition results from path...

complex neurodevelopmental disorder

MONDO:0100038

Complex neurodevelopmental disorder is a condition that affects multiple aspects of the central nervous system, manifesting with features such as inte...

GRIA2SETBP1DHX30

complex neurodevelopmental disorder with motor features

MONDO:0100516

Complex neurodevelopmental disorder with motor features is a condition that impacts both the central nervous system and motor function. Affected indiv...

complex neurodevelopmental disorder with or without congenital anomalies

MONDO:0100465

Complex neurodevelopmental disorder with or without congenital anomalies is a condition that primarily affects the central nervous system, leading to...

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