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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 10,181-10,200 of 10,888 diseases
MONDO:0019248
Mucolipidosis comprises a group of inherited lysosomal storage disorders that lead to the abnormal accumulation of lipids and carbohydrates in bodily...
MONDO:0009650
Mucolipidosis type II is a slowly progressive lysosomal disorder that affects multiple organ systems, including the skeletal, cardiovascular, and deve...
MONDO:0018931
Mucolipidosis type III, alpha/beta is a lysosomal storage disorder that affects multiple organ systems, including the skeletal, cardiovascular, and ce...
MONDO:0009653
Mucolipidosis type IV is a lysosomal disorder that affects neurological development and vision. It is caused by changes in the MCOLN1 gene and follows...
MONDO:0019249
Mucopolysaccharidosis is a group of inherited lysosomal storage disorders that disrupt the normal breakdown of mucopolysaccharides, leading to their a...
MONDO:0100365
MONDO:0015012
Mucopolysaccharidosis-plus syndrome is a very rare, multisystem condition that affects several organ systems including the respiratory, musculoskeleta...
MONDO:0001586
Mucopolysaccharidosis type 1 is a lysosomal storage disorder caused by changes in the IDUA gene that affect the enzyme responsible for breaking down c...
MONDO:0030524
MONDO:0010674
Mucopolysaccharidosis type 2 is a lysosomal storage disease characterized by a massive accumulation of glycosaminoglycans, leading to multisystem invo...
MONDO:0016316
Mucopolysaccharidosis type 2, attenuated form is a condition characterized by the accumulation of glycosaminoglycans that affects multiple body system...
MONDO:0016315
Mucopolysaccharidosis type 2, severe form is a complex metabolic condition characterized by a massive accumulation of glycosaminoglycans that affects...
MONDO:0018937
Mucopolysaccharidosis type 3 (MPS3), also known as Sanfilippo syndrome, is a lysosomal storage disorder caused by deficiencies in enzymes responsible...
MONDO:0009655
Mucopolysaccharidosis type 3A (often shortened to MPS IIIA or Sanfilippo syndrome type A) is a lysosomal storage disorder that mainly affects the brai...
MONDO:0009656
Mucopolysaccharidosis type 3B, also called Sanfilippo syndrome B, is a metabolic condition in the mucopolysaccharidosis family that primarily affects...
MONDO:0009657
Mucopolysaccharidosis type 3C (MPS III C), also called Sanfilippo syndrome type C, is an uncommon lysosomal storage condition that mainly affects the...
MONDO:0009658
MONDO:0009660
MONDO:0009661
Mucopolysaccharidosis type 6 is a lysosomal storage disorder characterized by a deficiency of the enzyme arylsulfatase B, resulting in the accumulatio...
MONDO:0017171
Built from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet, and 7 more public sources. Updated daily.