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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 4,541-4,560 of 10,888 diseases

developmental and epileptic encephalopathy, 16

MONDO:0014133

Developmental and epileptic encephalopathy, 16 is a severe neurodevelopmental disorder that primarily affects infants, with seizure onset typically oc...

developmental and epileptic encephalopathy, 17

MONDO:0014199

Developmental and epileptic encephalopathy, 17 is a severe neurological condition that presents in early infancy and is characterized by significant i...

developmental and epileptic encephalopathy, 18

MONDO:0014201

Developmental and epileptic encephalopathy, 18 is a neurological condition that primarily affects brain development and is characterized by profound g...

developmental and epileptic encephalopathy, 19

MONDO:0014328

Developmental and epileptic encephalopathy, 19 is an early-onset neurological disorder characterized primarily by severe seizure activity and signific...

developmental and epileptic encephalopathy, 2

MONDO:0010396

Developmental and epileptic encephalopathy, 2 is a severe neurological condition that begins in early infancy and disrupts brain development. It resul...

developmental and epileptic encephalopathy, 21

MONDO:0014360

Developmental and epileptic encephalopathy, 21 is a severe neurodevelopmental disorder that affects the brain and is caused by mutations in the NECAP1...

developmental and epileptic encephalopathy, 23

MONDO:0014371

Developmental and epileptic encephalopathy, 23 is a very rare neurodevelopmental disorder that primarily affects the brain and manifests with a combin...

developmental and epileptic encephalopathy, 24

MONDO:0014377

Developmental and epileptic encephalopathy, 24 is an early-onset neurological disorder caused by mutations in the HCN1 gene. It typically presents in...

developmental and epileptic encephalopathy, 25

MONDO:0014392

Developmental and epileptic encephalopathy, 25 is an early-onset neurological disorder characterized by severe seizures and significant delays in deve...

developmental and epileptic encephalopathy, 26

MONDO:0014477

Developmental and epileptic encephalopathy, 26 is an early-onset neurological condition characterized by severe seizures and global developmental dela...

developmental and epileptic encephalopathy, 27

MONDO:0014505

Developmental and epileptic encephalopathy, 27 is a severe neurodevelopmental disorder that manifests in early infancy, characterized by difficult-to-...

developmental and epileptic encephalopathy, 28

MONDO:0014533

Developmental and epileptic encephalopathy, 28 is a severe early-onset neurological condition characterized by frequent seizures and profound developm...

developmental and epileptic encephalopathy, 29

MONDO:0014593

Developmental and epileptic encephalopathy, 29 is an early-onset neurological disorder that presents in infancy and is characterized by severe impairm...

developmental and epileptic encephalopathy, 3

MONDO:0012245

Developmental and epileptic encephalopathy, 3 is an early-onset neurological condition characterized by severe seizures and impaired brain development...

developmental and epileptic encephalopathy, 30

MONDO:0014595

Developmental and epileptic encephalopathy, 30 is an early-onset neurological disorder characterized by severe seizures and marked delays in overall d...

developmental and epileptic encephalopathy, 31A

MONDO:0014598

Developmental and epileptic encephalopathy, 31A is a severe neurological disorder marked by profound delays in development and intractable seizures. I...

developmental and epileptic encephalopathy, 31B

MONDO:0957248

Developmental and epileptic encephalopathy, 31B is a severe neurological disorder that primarily affects early childhood. This condition is caused by...

developmental and epileptic encephalopathy, 32

MONDO:0014607

Developmental and epileptic encephalopathy, 32 is an early onset neurological disorder characterized by severe seizures and impaired brain function. T...

developmental and epileptic encephalopathy, 33

MONDO:0014625

Developmental and epileptic encephalopathy, 33 is an early-onset neurodevelopmental disorder caused by mutations in the EEF1A2 gene. This condition pr...

developmental and epileptic encephalopathy, 34

MONDO:0014718

Developmental and epileptic encephalopathy, 34 is a neurological condition that typically presents in early infancy with severe seizures and challenge...

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