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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.
Kisho provides public health information only — not medical advice. Always consult your healthcare provider.
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authoritative sources — clinical, regulatory, scientific
10,888
rare conditions, continuously monitored
Daily
updates from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet…
Showing 81-100 of 10,888 diseases
MONDO:0019878
3q26 microduplication syndrome is a chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual...
MONDO:0018156
3q26q27 microdeletion syndrome is a condition involving a deletion on the long arm of chromosome 3, specifically in the q26 to q27 region. Although th...
MONDO:0018341
3q27.3 microdeletion syndrome is a rare chromosomal anomaly resulting from a partial deletion of the long arm of chromosome 3. It is characterized by...
MONDO:0015779
45,X/46,XY mixed gonadal dysgenesis is a disorder of sex development characterized by the presence of a numerical sex chromosome abnormality that resu...
MONDO:0017576
46,XX disorder of sex development is a condition seen in individuals with a 46,XX karyotype who exhibit atypical development of the gonads, internal r...
MONDO:0017573
46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect that occurs during embryogenesis. In people with this co...
MONDO:0009915
46,XX disorder of sex development-skeletal anomalies syndrome is a condition that involves atypical development of sexual characteristics alongside sk...
MONDO:0009299
46 XX gonadal dysgenesis is a condition characterized by a primary defect in the ovaries that leads to premature ovarian failure in individuals with a...
MONDO:0014520
46,XX ovarian dysgenesis-short stature syndrome is a condition affecting ovarian development and overall growth, with features that include impaired s...
MONDO:0016281
46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is a condition where individuals with a 46,XX karyotype have both ovarian an...
MONDO:0100250
46,XX sex reversal 1 is a disorder of sex development that results in individuals with a 46,XX karyotype developing predominantly male physical charac...
MONDO:0010218
46,XX sex reversal 2 is a disorder of sex development in which individuals with a 46,XX chromosomal complement exhibit testicular development and feat...
MONDO:0010442
46,XX sex reversal 3 is a condition affecting sexual development in which individuals with a 46,XX karyotype develop testicular or ambiguous genitalia...
MONDO:0060489
46,XX sex reversal 4 is a disorder of sex development in which individuals with a 46,XX chromosomal pattern exhibit atypical development of the reprod...
MONDO:0100249
46,XX testicular disorder of sex development is a rare condition where people have male external genitalia. In many cases, the external appearance can...
MONDO:0800381
46,XX true hermaphroditism, SRY-positive is a condition classified among differences in sexual development that is characterized by the presence of bo...
MONDO:0010765
46,XY complete gonadal dysgenesis is a disorder of sex development in which individuals with a 46,XY karyotype develop predominantly female external a...
MONDO:0020040
46,XY disorder of sex development refers to differences of sex development in individuals with a 46,XY karyotype. This term is used to describe variou...
MONDO:0009916
This condition is a rare disorder that affects people with a 46,XY karyotype. It is caused by a decrease in the activity of the enzyme 17-beta-hydroxy...
MONDO:0009923
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency is a disorder of sex development caused by a defect in converting testosterone...
Built from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet, and 7 more public sources. Updated daily.