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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 101-120 of 10,888 diseases

46,XY disorder of sex development due to testicular 17,20-desmolase deficiency

MONDO:0013664

46,XY disorder of sex development due to testicular 17,20-desmolase deficiency is a condition affecting sexual differentiation, classified under the b...

46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome

MONDO:0011766

46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is an ultra-rare condition affecting both the development of the gonads and peripheral...

46,XY ovotesticular disorder of sex development

MONDO:0017968

46,XY ovotesticular disorder of sex development is a rare condition involving disorders of sex development that is characterized by the presence of bo...

46,XY partial gonadal dysgenesis

MONDO:0016674

46,XY partial gonadal dysgenesis is a disorder of sex development characterized by atypical gonadal development resulting in genital ambiguity in indi...

MAP3K1SOX9NR0B1+3

46,XY sex reversal 1

MONDO:0020712

46,XY sex reversal 1 is a condition affecting sex development, where individuals typically display a discordance between their chromosomal sex and gon...

46,XY sex reversal 10

MONDO:0014634

46,XY sex reversal 10 is a condition affecting sexual development, where individuals with a 46,XY karyotype display phenotypes that are discordant wit...

46,XY sex reversal 11

MONDO:8000015

46,XY sex reversal 11 is a form of complete gonadal dysgenesis that affects individuals with a 46,XY karyotype, where the development of testes is dis...

46,XY sex reversal 2

MONDO:0010226

46,XY sex reversal 2 is a disorder of sexual differentiation in which individuals with an XY karyotype present with atypical development of sex charac...

46,XY sex reversal 3

MONDO:0013066

46,XY sex reversal 3 is a congenital disorder of sex development in which individuals may exhibit sex reversal and ambiguous or atypical genitalia. Th...

46,XY sex reversal 4

MONDO:0007938

46,XY sex reversal 4 is a congenital condition associated with a deletion in the 9p24.3 region and is classified as an autosomal dominant disorder. It...

46,XY sex reversal 5

MONDO:0013120

46,XY sex reversal 5 is a disorder of sex development in which affected individuals exhibit sex reversal and hormonal imbalances. The condition is cau...

46,XY sex reversal 6

MONDO:0013410

46,XY sex reversal 6 is a disorder affecting sexual development, primarily characterized by gonadal dysgenesis and varying degrees of sex reversal. Th...

46,XY sex reversal 7

MONDO:0009301

46,XY sex reversal 7 is a disorder of sexual development characterized primarily by gonadal dysgenesis and sex reversal. It presents with consistent f...

46,XY sex reversal 9

MONDO:0014480

46,XY sex reversal 9 is a disorder of sex development characterized by sex reversal and gonadal dysgenesis, which are consistently present. The condit...

48,XXXY syndrome

MONDO:0019928

48,XXXY syndrome is a chromosomal anomaly characterized by the presence of two extra X chromosomes in males, resulting in an aneuploid condition. This...

48,XXYY syndrome

MONDO:0015028

48,XXYY syndrome is a chromosomal anomaly characterized by the presence of an extra X and an extra Y chromosome in males, leading to a complex multisy...

48,XYYY syndrome

MONDO:0020469

48,XYYY syndrome is a rare chromosomal anomaly that affects only males and is characterized by the presence of an extra Y chromosome. Affected individ...

49,XXXXY syndrome

MONDO:0019929

49,XXXXY syndrome is a chromosomal anomaly characterized by the presence of three extra X chromosomes in males. This condition arises from an aneuploi...

49,XXXYY syndrome

MONDO:0016854

49,XXXYY syndrome is a chromosomal abnormality in males that occurs when there are two extra copies of the X chromosome and one extra copy of the Y ch...

49,XYYYY syndrome

MONDO:0020470

49,XYYYY syndrome is a rare chromosomal anomaly affecting the sex chromosomes, characterized by an atypical number of Y chromosomes and a variable cli...

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