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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.
12
authoritative sources — clinical, regulatory, scientific
10,888
rare conditions, continuously monitored
Daily
updates from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet…
Showing 8,421-8,440 of 10,888 diseases
MONDO:0800372
Joubert syndrome 29 is a rare disease. Detailed information about this condition is currently limited in medical literature.
MONDO:0012078
Joubert syndrome 3 is a rare condition that is part of the Joubert syndrome family. It is specifically caused by changes in the AHI1 gene, which is im...
MONDO:0033308
Joubert syndrome 30 (also known as JBTS30) is a rare genetic condition. Information about the overall definition and detailed clinical presentation is...
MONDO:0033310
Joubert syndrome 31, also known as JBTS31, is a rare genetic disorder. Detailed information about the overall clinical presentation and progression of...
MONDO:0033309
Joubert syndrome 32, also known as JBTS32, is a rare condition that is part of the group of disorders referred to as Joubert syndrome. Conditions in t...
MONDO:0033311
Joubert syndrome 33 (JBTS33) is a rare condition that is recognized in scientific literature through its association with the PIBF1 gene and its OMIM...
MONDO:0800383
Joubert syndrome 34 is a rare disease. Detailed information about this condition is currently limited in medical literature.
MONDO:0032570
Information about Joubert syndrome 35 is currently limited for this condition. At this time, there is not enough detailed information available to pro...
MONDO:0032902
Joubert syndrome 36 is a rare genetic condition. Information about this condition is currently limited, but it has been documented with the OMIM ident...
MONDO:0030933
Joubert syndrome 37 (also known as JBTS37) is a rare condition that has been linked to changes in the TOGARAM1 gene. Information about the overall cli...
MONDO:0030353
Joubert syndrome 38 (also known as JBTS38) is a rare genetic condition. Information about its overall features and definition is currently limited. It...
MONDO:0030454
Joubert syndrome 39 (JBTS39) is a rare genetic condition that is recognized in medical databases. Information about the overall characteristics of thi...
MONDO:0030462
Joubert syndrome 40, also known as JBTS40, is a rare genetic condition. Although a detailed definition is not available, resources indicate that this...
MONDO:0012432
Joubert syndrome 5 is a rare form of Joubert syndrome that is caused by a mutation in the CEP290 gene. This condition is part of a group of disorders...
MONDO:0012539
Joubert syndrome 6 is a rare inherited condition that is part of the Joubert syndrome family of disorders. This condition is caused by mutations in th...
MONDO:0012694
Joubert syndrome 7 is a form of Joubert syndrome that is caused by a mutation in the RPGRIP1L gene. It is one of a group of conditions under the Joube...
MONDO:0012855
Joubert syndrome 8 is a rare genetic disorder that is part of the Joubert syndrome spectrum. This condition is specifically caused by a mutation in th...
MONDO:0012849
Joubert syndrome 9 is a rare condition that is caused by a mutation in the CC2D2A gene. It is one of the forms of Joubert syndrome and has several syn...
MONDO:0015369
Joubert syndrome and related disorders are a group of developmental delay and multiple congenital anomaly syndromes primarily defined by the presence...
MONDO:0018342
Joubert syndrome with Jeune asphyxiating thoracic dystrophy is an extremely rare genetic bone disorder. It features the classic signs of Joubert syndr...
Built from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet, and 7 more public sources. Updated daily.