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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.

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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 7,001-7,020 of 10,888 diseases

Hermansky-Pudlak syndrome

MONDO:0019312

Hermansky-Pudlak syndrome is a multi-system disorder that primarily affects pigmentation, bleeding, and organ function. It is associated with variants...

DTNBP1AP3B1BLOC1S5+3

Hermansky-Pudlak syndrome 1

MONDO:0008748

Hermansky-Pudlak syndrome 1 is a genetic condition characterized by abnormalities in pigmentation and bleeding tendencies. It is caused by mutations i...

Hermansky-Pudlak syndrome 10

MONDO:0014885

Hermansky-Pudlak syndrome 10 is a rare form of Hermansky-Pudlak syndrome caused by a mutation in the AP3D1 gene. This condition is one of several type...

Hermansky-Pudlak syndrome 11

MONDO:0030903

Information about overview is currently limited for this condition.

Hermansky-Pudlak syndrome 2

MONDO:0011997

Hermansky-Pudlak syndrome 2 (HPS-2) is a type of Hermansky-Pudlak syndrome, a rare, multi-system disorder. It is most known for affecting several syst...

Hermansky-Pudlak syndrome 3

MONDO:0013555

Hermansky-Pudlak syndrome 3 is a multisystem disorder characterized by oculocutaneous albinism and a bleeding diathesis, resulting from mutations in t...

Hermansky-Pudlak syndrome 4

MONDO:0013556

Hermansky-Pudlak syndrome 4 is a rare genetic condition that is part of the larger group of Hermansky-Pudlak syndromes. It occurs due to a mutation in...

Hermansky-Pudlak syndrome 5

MONDO:0013557

Hermansky-Pudlak syndrome 5 (HPS5) is a rare genetic disorder caused by a mutation in the HPS5 gene. It is one of several types of Hermansky-Pudlak sy...

Hermansky-Pudlak syndrome 6

MONDO:0013558

Hermansky-Pudlak syndrome 6 is a rare inherited disorder caused by a mutation in the HPS6 gene. It belongs to a group of conditions known as Hermansky...

Hermansky-Pudlak syndrome 7

MONDO:0013559

Hermansky-Pudlak syndrome 7 is a rare genetic condition caused by a mutation in the DTNBP1 gene. It is one of several types of Hermansky-Pudlak syndro...

Hermansky-Pudlak syndrome 8

MONDO:0013560

Hermansky-Pudlak syndrome 8 is a genetically determined condition classified under the Hermansky-Pudlak syndromes, which affect multiple systems inclu...

Hermansky-Pudlak syndrome 9

MONDO:0013606

Hermansky-Pudlak syndrome 9 is a rare inherited condition that occurs due to a mutation in the BLOC1S6 gene. This disorder is part of the Hermansky-Pu...

Hermansky-Pudlak syndrome without pulmonary fibrosis

MONDO:0016502

Hermansky-Pudlak syndrome without pulmonary fibrosis is a form of a multi-system disorder that affects several parts of the body. This condition inclu...

Hermansky-Pudlak syndrome with pulmonary fibrosis

MONDO:0016501

Hermansky-Pudlak syndrome with pulmonary fibrosis is a multi-system disorder that affects several parts of the body. It is most commonly known for its...

Hernández-Aguirre Negrete syndrome

MONDO:0016290

Hernández-Aguirre Negrete syndrome is a very rare condition that has been described in a small number of children from two unrelated Mexican families....

hernia, anterior diaphragmatic

MONDO:0010606

Hernia, anterior diaphragmatic is a condition characterized by a defect in the anterior portion of the diaphragm that may allow abdominal organs to he...

herpes simplex encephalitis

MONDO:0012521

Herpes simplex encephalitis is an acute infection of the central nervous system caused by the herpes simplex virus. It primarily affects the brain’s f...

herpes simplex virus keratitis

MONDO:0015288

Herpes simplex virus keratitis is an infection of the cornea caused by the herpes simplex virus, which affects the superficial epithelial layer of the...

herpetiform pemphigus

MONDO:0016164

Herpetiform pemphigus is a rare form of superficial pemphigus that primarily affects the skin, manifesting as intensely itchy, red, and hive-like plaq...

heterotaxy, visceral, 10, autosomal, with male infertility

MONDO:0030474

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