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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 3,921-3,940 of 10,888 diseases
MONDO:0012479
Congenital malabsorptive diarrhea 4 is an exceedingly rare gastrointestinal condition characterized by severe malabsorptive diarrhea due to a paucity...
MONDO:0019639
Congenital megacalycosis is a rare renal malformation in which the kidney’s calyces are abnormally dilated without any obstruction, and an increased n...
MONDO:0019068
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization is characterized by severe renal failure and nephrotic s...
MONDO:0011925
Congenital merosin-deficient muscular dystrophy 1A is a neuromuscular disorder that typically presents at birth or in infancy. Affected individuals ge...
MONDO:0017043
Congenital mesoblastic nephroma is a low grade malignant kidney tumor that primarily affects infants, with most cases presenting within the first year...
MONDO:0014258
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome is a multisystem condition that predominantly affects neurolog...
MONDO:0007989
Congenital microcoria is a rare ophthalmological condition that primarily affects the development of the eye, resulting in abnormally small pupils at...
MONDO:0016041
Congenital microgastria is a rare malformation in which the embryological development of the stomach is disrupted, resulting in an abnormally small st...
MONDO:0016582
Congenital mitral malformation is a heart defect present at birth that arises from an abnormal development of the mitral valve, a structure critical f...
MONDO:0020398
Congenital mitral stenosis is a heart malformation present from birth that affects the structure and function of the mitral valve, leading to a blocka...
MONDO:0020403
Congenital mitral valve agenesis is a rare congenital heart malformation that affects the structure and function of the mitral valve, an essential com...
MONDO:0019817
Congenital mitral valve insufficiency and/or stenosis is a heart condition in which the mitral valve does not function properly, potentially leading t...
MONDO:0009712
Congenital multicore myopathy with external ophthalmoplegia is a neuromuscular disorder that primarily affects skeletal muscles and is characterized b...
MONDO:0019950
Congenital muscular dystrophy (CMD) is a group of conditions that primarily affect the muscles. It is marked by low muscle tone (hypotonia) at birth,...
MONDO:0011486
Congenital muscular dystrophy type 1B (CMD1B) is a rare genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness, part...
MONDO:0700075
Congenital muscular dystrophy caused by variation in POMGNT2 is a condition affecting muscle development from birth. It is classified among congenital...
MONDO:0013177
Congenital muscular dystrophy due to integrin alpha-7 deficiency is a rare inherited disorder affecting the muscles, marked by early motor delays and...
MONDO:0013178
Congenital muscular dystrophy due to LMNA mutation is a rare genetic disorder that primarily affects muscle development and function from birth. It is...
MONDO:0009680
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is a condition characterized by early-onset muscle weakness, the presence of ca...
MONDO:0014896
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome is a condition that primarily affects muscle strength,...
Built from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet, and 7 more public sources. Updated daily.