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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 6,561-6,580 of 10,888 diseases

Greenberg dysplasia

MONDO:0008974

Greenberg dysplasia is a very rare and lethal skeletal disorder that affects fetal development. It is marked by the presence of fetal hydrops, very sh...

Greig cephalopolysyndactyly-contiguous gene syndrome

MONDO:0958130

Information about this rare condition is currently limited. Greig cephalopolysyndactyly-contiguous gene syndrome is a condition that has been recogniz...

Greig cephalopolysyndactyly syndrome

MONDO:0008287

Greig cephalopolysyndactyly syndrome (GCPS) is a condition that involves multiple congenital anomalies. It is described as a pleiotropic syndrome, mea...

GRFoma

MONDO:0019955

GRFoma is a rare tumor that has been observed to measure around 6 cm at diagnosis. About one third of these tumors have spread (metastasized) by the t...

GRID2-related autosomal dominant spinocerebellar ataxia

MONDO:0000563

GRID2-related autosomal dominant spinocerebellar ataxia is a rare neurological condition characterized by progressive ataxia. Currently, no specific g...

GRIN1-related complex neurodevelopmental disorder

MONDO:1060123

GRIN1-related complex neurodevelopmental disorder is a condition caused by variations in the GRIN1 gene. These genetic variations affect brain develop...

GRIN2A-related complex neurodevelopmental disorder

MONDO:1060139

GRIN2A-related complex neurodevelopmental disorder is a group of neurological and neurodevelopmental disorders caused by changes in the GRIN2A gene. T...

GRIN2A-related developmental and/or epileptic encephalopathy with spike-wave activation in sleep

MONDO:1060140

This condition is a developmental and/or epileptic encephalopathy where a genetic variation in the GRIN2A gene is present. It is noted by abnormal bra...

GRIN2A-related rolandic epilepsy-speech dyspraxia syndrome

MONDO:1060141

GRIN2A-related rolandic epilepsy-speech dyspraxia syndrome is a type of rolandic epilepsy-speech dyspraxia disorder where a change in the GRIN2A gene...

GRIN2A-related self-limited epilepsy with centrotemporal spikes

MONDO:1060142

GRIN2A-related self-limited epilepsy with centrotemporal spikes is a type of epilepsy marked by a pattern seen in brain wave tests called centrotempor...

GRIN2B-related complex neurodevelopmental disorder

MONDO:0700350

GRIN2B-related complex neurodevelopmental disorder is a condition that affects brain development due to a variation in the GRIN2B gene. People with th...

GRIN-related complex neurodevelopmental disorder

MONDO:1060138

GRIN-related complex neurodevelopmental disorder is a group of conditions that affect the brain and development. These conditions are caused by change...

Griscelli syndrome

MONDO:0018306

Griscelli syndrome is a rare condition that mainly affects a person's hair and skin. People with this condition often have a silvery gray sheen to the...

MYO5AMLPHRAB27A

Griscelli syndrome type 1

MONDO:0008962

Griscelli syndrome type 1 is a rare genetic condition that is mainly characterized by a silvery gray sheen to the hair and lighter skin pigmentation c...

Griscelli syndrome type 2

MONDO:0011872

Griscelli syndrome type 2 (GS2) is a rare genetic condition that affects the skin, hair, and immune system. People with this condition typically have...

Griscelli syndrome type 3

MONDO:0012220

Griscelli syndrome type 3 is a rare condition that mainly affects the pigmentation of hair and skin. People with this condition typically have a silve...

Grisel syndrome

MONDO:0971080

Information about overview is currently limited for this condition.

GRM6-related retinopathy

MONDO:0800397

GRM6-related retinopathy is an inherited eye condition that affects the retina, the part of the eye that senses light. It is caused by bi-allelic vari...

GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

MONDO:0011842

GRN-related frontotemporal lobar degeneration with Tdp43 inclusions is a type of frontotemporal dementia. This condition is mainly marked by changes i...

growing teratoma syndrome

MONDO:0017807

Growing teratoma syndrome (GTS) is a condition characterized by the development of a mature teratoma during or after chemotherapy for a non-seminomato...

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