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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 1,801-1,820 of 10,888 diseases
MONDO:0013489
Autosomal recessive nonsyndromic hearing loss 89 is a condition that primarily affects auditory function, resulting in sensorineural hearing impairmen...
MONDO:0010986
Autosomal recessive nonsyndromic hearing loss 9 is a condition characterized by sensorineural hearing impairment. It results from mutations in the OTO...
MONDO:0013269
Autosomal recessive nonsyndromic hearing loss 91 is caused by mutations in the SERPINB6 gene. This condition is inherited in an autosomal recessive pa...
MONDO:0013963
Autosomal recessive nonsyndromic hearing loss 93 is caused by mutations in the CABP2 gene. This condition is inherited in an autosomal recessive manne...
MONDO:0013738
Autosomal recessive nonsyndromic hearing loss 96, also known as DFNB96, is characterized by hearing impairment that is not associated with other syndr...
MONDO:0014739
Autosomal recessive nonsyndromic hearing loss 97 is an inherited condition characterized primarily by sensorineural hearing impairment. It is caused b...
MONDO:0013929
Autosomal recessive nonsyndromic hearing loss 98 is a genetic condition characterized primarily by sensorineural hearing impairment. The disorder is c...
MONDO:0019502
Autosomal recessive non-syndromic intellectual disability is an extremely rare condition. Because few cases have been documented, detailed clinical in...
MONDO:0040653
Autosomal recessive ocular albinism is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.
MONDO:0009779
Autosomal recessive omodysplasia is a rare skeletal dysplasia associated with variants in the GPC6 gene. This condition is characterized by abnormal b...
MONDO:0013069
Autosomal recessive optic atrophy, OPA7 type, is a very rare inherited disorder that mainly affects the eyes. The condition damages the optic nerve, w...
MONDO:0019026
Autosomal recessive osteopetrosis is characterized by the failure of osteoclasts to resorb bone, leading to increased bone mass but skeletal fragility...
MONDO:0009815
Autosomal recessive osteopetrosis 1 is a hereditary bone disorder that interferes with the normal breakdown and rebuilding of bone, leading to very de...
MONDO:0009816
Autosomal recessive osteopetrosis 2 is a condition characterized by abnormally dense bones resulting from a deficiency in osteoclast function. It is c...
MONDO:0009818
Autosomal recessive osteopetrosis 3 is a very rare condition that affects the skeleton, kidneys, and nervous system. It results from pathogenic varian...
MONDO:0012676
Autosomal recessive osteopetrosis 4 is a serious inherited bone disorder that affects multiple body systems beginning in infancy. It is caused by harm...
MONDO:0009817
Autosomal recessive osteopetrosis 5 is a severe form of malignant osteopetrosis that primarily affects infants and involves abnormalities in bone remo...
MONDO:0012679
Autosomal recessive osteopetrosis 6 is a hereditary skeletal condition in which bones become abnormally dense yet fragile, leading to a unique combina...
MONDO:0012859
Autosomal recessive osteopetrosis 7 is a very rare inherited bone disorder in which the bones become overly dense and brittle, leading to a range of h...
MONDO:0014040
Autosomal recessive osteopetrosis 8 is a disorder that primarily affects bone and blood formation, leading to abnormally dense yet fragile bones and a...
Built from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet, and 7 more public sources. Updated daily.