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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 5,901-5,920 of 10,888 diseases

Fanconi anemia complementation group E

MONDO:0010953

Fanconi anemia complementation group E is a rare condition caused by mutations in the FANCE gene. The FANCE gene produces a protein that plays an impo...

Fanconi anemia complementation group F

MONDO:0011325

Fanconi anemia complementation group F is a rare inherited condition caused by mutations in the FANCF gene. This gene makes a protein that is similar...

Fanconi anemia complementation group G

MONDO:0013565

Fanconi anemia complementation group G is a form of Fanconi anemia that is caused by mutations in the FANCG gene. People with this condition have chan...

Fanconi anemia complementation group I

MONDO:0012186

Fanconi anemia complementation group I is a rare genetic condition caused by mutations in the FANCI gene, which encodes the Fanconi anemia group I pro...

Fanconi anemia complementation group J

MONDO:0012187

Fanconi anemia complementation group J is a rare form of Fanconi anemia caused by mutations in the BRIP1 gene. The BRIP1 gene produces the Fanconi ane...

Fanconi anemia complementation group L

MONDO:0013566

Fanconi anemia complementation group L is a rare form of Fanconi anemia that occurs due to a mutation in the FANCL gene. This condition is a part of a...

Fanconi anemia complementation group N

MONDO:0012565

Fanconi anemia complementation group N is a type of Fanconi anemia caused by mutations in the PALB2 gene. This genetic change affects how cells repair...

Fanconi anemia complementation group O

MONDO:0013248

Fanconi anemia complementation group O is a type of Fanconi anemia caused by a mutation in the RAD51C gene. Fanconi anemia is a rare genetic disorder...

Fanconi anemia complementation group P

MONDO:0013499

Fanconi anemia complementation group P is a rare genetic condition that is part of a group of disorders known as Fanconi anemia. This condition is cau...

Fanconi anemia complementation group Q

MONDO:0014108

Fanconi anemia complementation group Q is a subtype of Fanconi anemia where the condition is caused by a mutation in the ERCC4 gene. This disorder is...

Fanconi anemia complementation group R

MONDO:0014986

Fanconi anemia complementation group R is a rare type of Fanconi anemia caused by mutations in the RAD51 gene. Fanconi anemia is a genetic condition t...

Fanconi anemia, complementation group S

MONDO:0054748

Fanconi anemia, complementation group S is a rare subtype of Fanconi anemia. While Fanconi anemia in general affects blood and bone marrow, detailed i...

Fanconi anemia complementation group T

MONDO:0014638

Fanconi anemia complementation group T is a rare inherited condition caused by a mutation in the UBE2T gene. This condition is a type of Fanconi anemi...

Fanconi anemia complementation group U

MONDO:0014987

Fanconi anemia complementation group U is a type of Fanconi anemia caused by mutations in the XRCC2 gene. Fanconi anemia is a rare inherited disorder...

Fanconi anemia complementation group V

MONDO:0014985

Fanconi anemia complementation group V is a rare form of Fanconi anemia in which a mutation in the MAD2L2 gene disrupts important cellular processes....

Fanconi anemia, complementation group W

MONDO:0044325

Fanconi anemia, complementation group W is a rare inherited condition. Although detailed descriptions are not available, the condition is associated w...

Fanconi renotubular syndrome

MONDO:0001083

Fanconi renotubular syndrome is a condition in which the kidney’s proximal tubules do not work properly. The proximal tubules normally reabsorb vital...

Fanconi renotubular syndrome 1

MONDO:0024525

Fanconi renotubular syndrome 1 is a rare kidney disorder that affects the kidney’s ability to reabsorb nutrients. This condition is known by several n...

Fanconi renotubular syndrome 2

MONDO:0013247

Fanconi renotubular syndrome 2 is a rare form of Fanconi syndrome that occurs due to a mutation in the SLC34A1 gene. This condition affects the kidney...

Fanconi renotubular syndrome 3

MONDO:0014275

Fanconi renotubular syndrome 3 is a type of Fanconi syndrome that occurs because of a mutation in the EHHADH gene. Fanconi syndrome affects the kidney...

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