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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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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 2,941-2,960 of 10,888 diseases

Charcot-Marie-Tooth disease type 2Y

MONDO:0014735

Charcot-Marie-Tooth disease type 2Y is a form of Charcot-Marie-Tooth disease where the condition is caused by a mutation in the VCP gene. This conditi...

Charcot-Marie-Tooth disease type 3

MONDO:0007790

Charcot-Marie-Tooth disease type 3 is a disorder that primarily affects the peripheral nerves, resulting in impaired nerve conduction and muscle weakn...

Charcot-Marie-Tooth disease type 4A

MONDO:0008961

Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease that begins in infancy or early childhood. It is known for a s...

Charcot-Marie-Tooth disease type 4B1

MONDO:0011066

Charcot-Marie-Tooth disease type 4B1 is a rare inherited condition that affects the peripheral nerves. It is characterized by an early childhood onset...

Charcot-Marie-Tooth disease type 4B2

MONDO:0011475

Charcot-Marie-Tooth disease type 4B2 is a rare inherited condition that starts in early childhood. It is characterized by a severe demyelinating senso...

Charcot-Marie-Tooth disease type 4B3

MONDO:0014117

Charcot-Marie-Tooth disease type 4B3 is a form of inherited peripheral neuropathy that primarily affects the motor and sensory nerves, leading to musc...

Charcot-Marie-Tooth disease type 4C

MONDO:0011113

Charcot-Marie-Tooth disease type 4C (CMT4C) is a form of Charcot-Marie-Tooth disease that usually begins in childhood or adolescence. It is characteri...

Charcot-Marie-Tooth disease type 4D

MONDO:0011085

Charcot-Marie-Tooth disease type 4D is a rare inherited disorder that primarily affects the nerves responsible for movement and sensation. It is typic...

Charcot-Marie-Tooth disease type 4E

MONDO:0011527

Charcot-Marie-Tooth disease type 4E is a congenital form of the Charcot-Marie-Tooth disease group. It is characterized by a hypomyelinating neuropathy...

Charcot-Marie-Tooth disease type 4F

MONDO:0013959

Charcot-Marie-Tooth disease type 4F is a severe form of Charcot-Marie-Tooth disease that usually begins in childhood. It is a type of demyelinating di...

Charcot-Marie-Tooth disease type 4G

MONDO:0011534

Charcot-Marie-Tooth disease type 4G (CMT4G) is a rare genetic condition that affects the nerves in the arms and legs. It is part of the broader group...

Charcot-Marie-Tooth disease type 4H

MONDO:0012250

Charcot-Marie-Tooth disease type 4H (CMT4H) is a form of Charcot-Marie-Tooth disease that affects the peripheral nerves. It is described as a demyelin...

Charcot-Marie-Tooth disease type 4J

MONDO:0012640

Charcot-Marie-Tooth disease, type 4J (CMT4J) is a rare inherited disorder that affects the peripheral nerves responsible for movement and sensation. I...

Charcot-Marie-Tooth disease type 4K

MONDO:0014733

SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4K) is a type of nerve disorder that usually begins in childhood. It is marked by a severe, progr...

Charcot-Marie-Tooth disease type 5

MONDO:0010877

Charcot-Marie-Tooth disease type 5, also known as hereditary motor and sensory neuropathy type 5, is a rare inherited nerve disorder that affects the...

Charcot-Marie-Tooth disease type X

MONDO:0018994

Charcot-Marie-Tooth disease type X is a subtype of Charcot-Marie-Tooth disease. This condition is linked to genetic defects on the X chromosome. Becau...

AIFM1PRPS1PDK3+1

Charcot-Marie-Tooth disease with ptosis and parkinsonism

MONDO:0007312

Charcot-Marie-Tooth disease with ptosis and parkinsonism is a rare condition recognized by its unique name, which suggests involvement of the peripher...

Charcot-Marie-Tooth disease X-linked dominant 1

MONDO:0010549

Charcot-Marie-Tooth disease X-linked dominant 1 is a genetic condition that affects the peripheral nerves responsible for movement and sensation. It i...

Charcot-Marie-Tooth disease X-linked dominant 6

MONDO:0010479

X-linked Charcot-Marie-Tooth disease type 6 is a rare genetic condition that affects the peripheral nerves. It is mainly an axonal peripheral sensorim...

Charcot-Marie-Tooth disease X-linked recessive 2

MONDO:0010550

X-linked Charcot-Marie-Tooth disease type 2 is a rare genetic condition that affects the peripheral nerves. It is characterized by a progressive loss...

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