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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 5,381-5,400 of 10,888 diseases

epidermolytic hyperkeratosis 2

MONDO:0958184

Epidermolytic hyperkeratosis 2 is a genetic skin disorder characterized by abnormalities in the epidermis. It is associated with alterations in the KR...

epidermolytic hyperkeratosis 2A, autosomal dominant

MONDO:0700248

Epidermolytic hyperkeratosis 2A is an inherited skin disorder that primarily affects the outer layer of the skin, leading to thickened, scaly patches...

epidermolytic hyperkeratosis 2B, autosomal recessive

MONDO:0700245

Epidermolytic hyperkeratosis 2B, autosomal recessive is a skin condition characterized by marked abnormalities of the epidermis. It is caused by chang...

epidermolytic ichthyosis

MONDO:0007239

Epidermolytic ichthyosis is a rare keratinopathic condition that primarily affects the skin. It is characterized by a blistering phenotype evident at...

epidermolytic nevus

MONDO:0044656

Epidermolytic nevus is a skin condition that falls under the category of epidermal nevi and is also known by names such as epidermal nevus with epider...

epidermolytic palmoplantar keratoderma, 1

MONDO:0007758

Epidermolytic palmoplantar keratoderma, 1 is a genetic skin disorder that primarily affects the palms and soles, leading to abnormally thick and harde...

epidural abscess

MONDO:0005752

Epidural abscess is a localized collection of infected material that develops in the spinal or, less commonly, cranial epidural space. Most cases invo...

epidural spinal canal meningioma

MONDO:0002778

Epidural spinal canal meningioma is a tumor that arises in the epidural space surrounding the spinal canal. This condition is defined by its location,...

epignathus

MONDO:0015386

Epignathus is a very rare and life-threatening intraoral teratoma that arises from the maxilla, mandible, palate, or base of the skull and may invade...

epilepsy, early-onset, vitamin B6-dependent

MONDO:0015005

Epilepsy, early-onset, vitamin B6-dependent is a disorder characterized by seizures and developmental challenges that typically present in infancy. Th...

epilepsy, familial adult myoclonic

MONDO:0000160

Epilepsy, familial adult myoclonic is a neurological condition characterized primarily by adult-onset cortical myoclonus, where individuals experience...

STARD7YEATS2RAPGEF2+4

epilepsy, familial adult myoclonic, 1

MONDO:0010985

Epilepsy, familial adult myoclonic, 1 is a neurological condition that primarily affects adults and is characterized by myoclonic tremors and seizures...

epilepsy, familial adult myoclonic, 2

MONDO:0011930

Epilepsy, familial adult myoclonic, 2 is a neurological condition characterized primarily by myoclonic jerks and seizures that may include bilateral t...

epilepsy, familial adult myoclonic, 3

MONDO:0013322

Epilepsy, familial adult myoclonic, 3 is a neurologic condition that is primarily characterized by the onset of tremor and seizures in adulthood, affe...

epilepsy, familial adult myoclonic, 4

MONDO:0014055

Epilepsy, familial adult myoclonic, 4 is a neurological condition primarily characterized by myoclonic jerks, tremor, and seizures. It is linked to va...

epilepsy, familial adult myoclonic, 5

MONDO:0014167

Epilepsy, familial adult myoclonic, 5 is a form of epilepsy characterized by myoclonic jerks, tremor, and seizures that include bilateral tonic-clonic...

epilepsy, familial adult myoclonic, 6

MONDO:0054846

Epilepsy, familial adult myoclonic, 6 is a neurological condition characterized by episodes of seizures featuring myoclonic activity. Although detaile...

epilepsy, familial adult myoclonic, 7

MONDO:0054847

epilepsy, familial focal, with variable foci 1

MONDO:0024556

Epilepsy, familial focal, with variable foci 1 is a neurological condition characterized by recurrent seizures and abnormal brain development that oft...

epilepsy, familial focal, with variable foci 2

MONDO:0014924

Epilepsy, familial focal, with variable foci 2 is an inherited neurological condition characterized by focal seizures and related brain malformations....

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