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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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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 861-880 of 10,888 diseases

amelogenesis imperfecta, hypomaturation type, IIa6

MONDO:0014971

Amelogenesis imperfecta, hypomaturation type, IIa6 is a genetic condition caused by variants in the GPR68 gene. It is inherited in an autosomal recess...

amelogenesis imperfecta, IIa 1K

MONDO:0031084

Amelogenesis imperfecta, IIa 1K, is a genetic condition characterized by defects in enamel formation. It is caused by variants in the SP6 gene and fol...

amelogenesis imperfecta type 1

MONDO:0015047

Amelogenesis imperfecta type 1 is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

ENAMLAMB3ITGB6+2

amelogenesis imperfecta type 1A

MONDO:0007094

Amelogenesis imperfecta type 1A is a dental condition characterized by abnormal formation of the enamel, resulting in thin and defective tooth enamel....

amelogenesis imperfecta type 1B

MONDO:0007092

Amelogenesis imperfecta type 1B is a dental condition characterized by abnormal formation of the enamel, the hard outer layer of the teeth. This condi...

amelogenesis imperfecta type 1C

MONDO:0008770

Amelogenesis imperfecta type 1C (AI1C) is a genetic condition characterized by enamel hypoplasia, which results in enamel that is thin and poorly mine...

amelogenesis imperfecta type 1E

MONDO:0010521

Amelogenesis imperfecta type 1E is a condition affecting the development of dental enamel, resulting in abnormal tooth structure and alignment. It occ...

amelogenesis imperfecta type 1F

MONDO:0014560

Amelogenesis imperfecta type 1F is a dental condition primarily affecting the formation and quality of tooth enamel. It is caused by a mutation in the...

amelogenesis imperfecta type 1G

MONDO:0008771

Amelogenesis imperfecta type 1G is an extremely rare condition that primarily affects dental enamel formation and kidney tissue, leading to hypoplasti...

amelogenesis imperfecta type 1H

MONDO:0014540

Amelogenesis imperfecta type 1H is a condition affecting the development of dental enamel, leading to abnormalities in the appearance and structure of...

amelogenesis imperfecta, type 1J

MONDO:0015008

Amelogenesis imperfecta, type 1J is a genetic condition associated with variants in the ACP4 gene, which plays a role in enamel formation. This condit...

amelogenesis imperfecta type 2

MONDO:0015048

Amelogenesis imperfecta type 2 is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

ODAPHMMP20WDR72+4

amelogenesis imperfecta type 2A1

MONDO:0008772

Amelogenesis imperfecta type 2A1 is an inherited dental condition characterized by abnormal enamel formation. This disorder is caused by mutations in...

amelogenesis imperfecta, type 3A

MONDO:0007538

Amelogenesis imperfecta, type 3A is a hereditary dental condition affecting the formation and quality of tooth enamel. This condition is caused by pat...

amelogenesis imperfecta type 3B

MONDO:0021547

Amelogenesis imperfecta type 3B (AI3B) is a genetic condition characterized by enamel hypomineralization, leading to defects in the enamel structure....

amelogenesis imperfecta, type 3C

MONDO:0032717

Amelogenesis imperfecta, type 3C (AI3C) is a genetic condition caused by variants in the RELT gene, which is inherited in an autosomal recessive manne...

ameloonychohypohidrotic syndrome

MONDO:0007095

Ameloonychohypohidrotic syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

aminoacylase 1 deficiency

MONDO:0012368

Aminoacylase 1 deficiency is an inherited metabolic condition that primarily affects the brain and other body systems. It results from pathogenic vari...

aminopterin/methotrexate embryofetopathy

MONDO:0016004

Aminopterin/methotrexate embryofetopathy is an extremely rare condition. Because few cases have been documented, detailed clinical information is limi...

Amish lethal microcephaly

MONDO:0011790

Amish lethal microcephaly is a very rare and severe neurological condition characterized by profound congenital microcephaly and multiple brain malfor...

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