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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.

Search by:Disease•Gene•Symptom•Treatment•PAG•OMIM/Orphanet ID

Commonly searched:Cystic Fibrosis Duchenne Huntington's ALS Sickle Cell

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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 1,321-1,340 of 10,888 diseases

atrial septal defect, ostium secundum type

MONDO:0020434

Atrial septal defect (ASD), ostium secundum type, is characterized by a defect in the atrial septum, leading to a left-to-right shunt. This condition...

atrial septal defect, sinus venosus type

MONDO:0020436

Atrial septal defect, sinus venosus type, is a specific form of congenital heart defect characterized by an abnormal opening in the atrial septum, all...

atrial standstill

MONDO:0015281

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

atrial standstill 1

MONDO:0007171

Atrial standstill 1 is a cardiac conduction disorder characterized by the absence of normal electrical activity in the atria, which can lead to signif...

atrial standstill 2

MONDO:0014329

Atrial standstill 2 is a cardiac condition characterized by an absence of effective atrial contraction due to a mutation in the NPPA gene. This condit...

atrichia with papular lesions

MONDO:0008847

Atrichia with papular lesions is a rare inherited condition caused by variants in the HR gene, leading to irreversible hair loss during the neonatal p...

atrioventricular defect-blepharophimosis-radial and anal defect syndrome

MONDO:0010825

Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is an extremely rare condition. Because few cases have been documented, detai...

atrioventricular septal defect

MONDO:0859565

Atrioventricular septal defect is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

atrioventricular septal defect 4

MONDO:0013747

Atrioventricular septal defect 4 (AVSD4) is a congenital heart defect caused by mutations in the GATA4 gene. This condition is inherited in an autosom...

atrioventricular septal defect 5

MONDO:0013769

Atrioventricular septal defect 5 is a congenital heart condition marked by significant abnormalities in the structure of the heart. It is caused by mu...

atrophic lichen planus

MONDO:0016773

Atrophic lichen planus is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

atrophic muscular disease

MONDO:0004714

Atrophic muscular disease, also known as atrophic muscular disorder, refers to a group of conditions marked by a reduction in muscle volume and atroph...

atrophic papulosis

MONDO:0958110

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

atrophoderma of Pierini and Pasini

MONDO:0022513

Atrophoderma of Pierini and Pasini is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

atrophoderma vermiculata

MONDO:0008849

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

attenuated Chédiak-Higashi syndrome

MONDO:0018133

Attenuated Chédiak-Higashi syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

attenuated familial adenomatous polyposis

MONDO:0016362

Attenuated familial adenomatous polyposis (AFAP) is a hereditary colorectal polyposis condition in which affected individuals develop far fewer colon...

ATTRV122I amyloidosis

MONDO:0019441

ATTRV122I amyloidosis is a rare inherited disease that falls under the group of Transthyretin (TTR)-related systemic amyloidoses. In this condition, a...

ATTRV30M amyloidosis

MONDO:0100552

ATTRV30M amyloidosis is a rare hereditary form of amyloidosis characterized by a progressive, length-dependent sensorimotor axonal polyneuropathy and/...

atypical autism

MONDO:0016052

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

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