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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 1,921-1,940 of 10,888 diseases

Bardet-Biedl syndrome 14

MONDO:0014442

Bardet-Biedl syndrome 14 is a multisystem condition that predominantly affects the genitourinary, musculoskeletal, and nervous systems. It is caused b...

Bardet-Biedl syndrome 15

MONDO:0014443

Bardet-Biedl syndrome 15 is a genetic disorder defined by mutations in the WDPCP gene, which plays an essential role in normal cellular function. The...

Bardet-Biedl syndrome 16

MONDO:0014444

Bardet-Biedl syndrome 16 is a multisystem disorder that affects the genitourinary, growth, muscular, nervous, and respiratory systems. It is caused by...

Bardet-Biedl syndrome 17

MONDO:0014445

Bardet-Biedl syndrome 17 is a multi-system condition characterized by a constellation of features affecting the eyes, genitourinary tract, musculature...

Bardet-Biedl syndrome 18

MONDO:0014446

Bardet-Biedl syndrome 18 is a multi-system disorder affecting the eye, genitourinary system, musculature, and nervous system. It is caused by pathogen...

Bardet-Biedl syndrome 19

MONDO:0014447

Bardet-Biedl syndrome 19 is a multisystem condition caused by mutations in the IFT27 gene, which is located on chromosome 22. It impacts several organ...

Bardet-Biedl syndrome 2

MONDO:0014432

Bardet-Biedl syndrome 2 is a multisystem condition that affects the nervous system, eyes, genitourinary tract, endocrine system, and musculoskeletal s...

Bardet-Biedl syndrome 20

MONDO:0023670

Bardet-Biedl syndrome 20 is a multisystem condition affecting the eyes, cardiovascular system, musculature, and nervous system, and is one of the cond...

bardet-biedl syndrome 21

MONDO:0044308

Bardet-Biedl syndrome 21 (BBS21) is an autosomal recessive ciliopathy caused by variants in the CFAP418 gene. This condition is characterized by a ran...

Bardet-Biedl syndrome 22

MONDO:0014926

Bardet-Biedl syndrome 22 is an inherited multi-system condition that affects both the musculature and nervous system. It is caused by mutations in the...

Bardet-Biedl syndrome 3

MONDO:0010832

Bardet-Biedl syndrome 3 is a multisystem genetic condition affecting primarily the nervous and genitourinary systems. It is caused by pathogenic varia...

Bardet-Biedl syndrome 4

MONDO:0014433

Bardet-Biedl syndrome 4 is an inherited multisystem condition that can affect the nervous system as well as other body systems. It is caused by change...

Bardet-Biedl syndrome 5

MONDO:0014434

Bardet-Biedl syndrome 5 is a multisystem condition primarily affecting the eyes, musculoskeletal system, nervous system, and aspects of endocrine func...

Bardet-Biedl syndrome 6

MONDO:0011523

Bardet-Biedl syndrome 6 is a multisystem condition that affects the endocrine, genitourinary, and nervous systems. It is caused by pathogenic variants...

Bardet-Biedl syndrome 7

MONDO:0014435

Bardet-Biedl syndrome 7 is a multisystem condition that primarily affects the nervous and musculoskeletal systems. It is caused by mutations in the BB...

Bardet-Biedl syndrome 8

MONDO:0014436

Bardet-Biedl syndrome 8 is a multisystem genetic condition characterized by features affecting development, vision, and physical growth. It is caused...

Bardet-Biedl syndrome 9

MONDO:0014437

Bardet-Biedl syndrome 9 is a multisystem condition that affects the eyes, genitourinary system, musculature, nervous system, and skeletal system. It i...

baritosis

MONDO:0001001

baritosis is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited. It is characterized by the...

baroreflex failure

MONDO:0018617

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

Barrett adenocarcinoma

MONDO:0004405

Barrett adenocarcinoma is a type of cancer that starts in the cells of the esophagus. It arises from Barrett metaplastic epithelium, a change in the n...

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