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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 901-920 of 10,888 diseases

amyloidosis, primary localized cutaneous, 2

MONDO:0013502

Amyloidosis, primary localized cutaneous type 2 (PLCA2) is associated with variants in the IL31RA gene, which is inherited in an autosomal dominant ma...

amyloidosis, primary localized cutaneous, 3

MONDO:0054765

Primary localized cutaneous amyloidosis type 3 (PLCA3) is associated with variants in the GPNMB gene, which is inherited in an autosomal recessive man...

amyopathic dermatomyositis

MONDO:0043317

Amyopathic dermatomyositis, also known as dermatomyositis sine myositis or ADM, is an acquired inflammatory condition characterized primarily by disti...

amyotrophic lateral sclerosis

MONDO:0004976

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative condition that primarily affects the motor neurons in the brain and spinal cord, leading to...

SOD1C9ORF72FUS+1

amyotrophic lateral sclerosis 26 with or without frontotemporal dementia

MONDO:0030885

Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia is a neurological condition that primarily affects motor function and cogniti...

amyotrophic lateral sclerosis 27, juvenile

MONDO:0859529

Amyotrophic lateral sclerosis 27, juvenile is a neuromuscular condition marked by progressive muscle weakness affecting multiple muscle groups. It is...

amyotrophic lateral sclerosis 28

MONDO:0957538

Amyotrophic lateral sclerosis 28 is a neuromuscular condition that primarily affects motor function, leading to progressive muscle weakness and diffic...

amyotrophic lateral sclerosis-parkinsonism-dementia complex

MONDO:0007104

Amyotrophic lateral sclerosis-parkinsonism-dementia complex (ALS-PDC) is characterized by a combination of neurological symptoms including dementia an...

amyotrophic lateral sclerosis type 1

MONDO:0007103

Amyotrophic lateral sclerosis type 1 (ALS1) is associated with variants in the SOD1 gene, which can lead to both autosomal dominant and autosomal rece...

amyotrophic lateral sclerosis type 10

MONDO:0012790

Amyotrophic lateral sclerosis type 10 is a form of motor neuron disease that primarily affects the nerve cells responsible for controlling voluntary m...

amyotrophic lateral sclerosis type 11

MONDO:0012945

Amyotrophic lateral sclerosis type 11 (ALS11) is a neurodegenerative condition that primarily affects motor neurons, leading to progressive muscle wea...

amyotrophic lateral sclerosis type 12

MONDO:0013264

Amyotrophic lateral sclerosis type 12 is a form of motor neuron disease that causes progressive weakness and loss of muscle control. It is caused by m...

amyotrophic lateral sclerosis type 15

MONDO:0010459

Amyotrophic lateral sclerosis type 15 is a form of motor neuron disease characterized by progressive deterioration of motor function and, in some case...

amyotrophic lateral sclerosis type 16

MONDO:0013715

Amyotrophic lateral sclerosis type 16 (ALS16) is a neurodegenerative condition that primarily affects the motor system, leading to muscle weakness and...

amyotrophic lateral sclerosis type 18

MONDO:0013891

Amyotrophic lateral sclerosis type 18 is a form of motor neuron disease in which the underlying cause is a mutation in the PFN1 gene. This condition a...

amyotrophic lateral sclerosis type 19

MONDO:0014223

Amyotrophic lateral sclerosis type 19 is an inherited motor neuron disorder that primarily affects movement and respiratory function. It is caused by...

amyotrophic lateral sclerosis type 20

MONDO:0014181

Amyotrophic lateral sclerosis type 20 (ALS20) is a form of motor neuron disease caused by a mutation in the HNRNPA1 gene. This condition affects the n...

amyotrophic lateral sclerosis type 21

MONDO:0011632

Amyotrophic lateral sclerosis type 21 is a form of motor neuron disease that primarily affects the neuromuscular system, leading to impairments in mus...

amyotrophic lateral sclerosis type 22

MONDO:0014531

Amyotrophic lateral sclerosis type 22 is a form of motor neuron disease characterized primarily by progressive muscle weakness and loss of motor funct...

amyotrophic lateral sclerosis type 23

MONDO:0027694

Amyotrophic lateral sclerosis type 23 (ALS23) is a genetic condition caused by variants in the ANXA11 gene, inherited in an autosomal dominant manner....

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