KRAS-mutated juvenile myelomonocytic leukemia (JMML) is a rare blood cancer that happens mostly in very young children, usually under 4 years of age. It starts ...

NRAS-mutated juvenile myelomonocytic leukemia (JMML) is a rare blood cancer that happens mostly in very young children, usually under 4 years of age. It starts ...

Chronic bilirubin encephalopathy is a long-term brain injury that happens when very high levels of bilirubin (a yellow pigment from red blood cells) damage a ...

Chronic beryllium lung disease is a long-lasting lung illness that happens after breathing in very small particles of the metal beryllium at work or in the ...

Chronic beryllium poisoning, usually called chronic beryllium disease (CBD) or berylliosis, is a long-term lung disease caused by breathing in tiny particles ...

Beryllium granuloma is a small lump made of immune cells that forms when beryllium metal or its dust gets into the body and the immune system tries to “wall it ...

Chronic beryllium disease (CBD) is a long-term lung disease that happens when a person’s immune system reacts strongly to a metal called beryllium. Tiny ...

Chronic atrial dysrhythmia–intestinal motility disorder, also called chronic atrial and intestinal dysrhythmia (CAID), is a rare genetic disease that affects ...

Chronic atrial and intestinal dysrhythmia (CAID) is a very rare genetic disease that affects both the heart and the intestines at the same time. In this ...

Int22h1/int22h2-mediated Xq28 recurrent microduplication syndrome is a rare genetic condition where a very small extra piece of the X chromosome is copied one ...

Chromosome Xq28 duplication syndrome is a rare genetic condition. A small extra piece of the X chromosome is copied (duplicated) in a region called “q28.” This ...

Glycerol kinase deficiency-contiguous gene syndrome is a very rare genetic disease that happens when a small piece of the X chromosome (area called Xp21) is ...

Chromosome Xp21 deletion syndrome is a rare genetic condition. It happens when a small piece of the X chromosome (in the Xp21 area) is missing (deleted). ...

X-linked dominant Xp11.23–p11.22 duplication syndrome (also called Xp11.22–p11.23 duplication / microduplication syndrome) is a rare genetic condition where a ...

Chromosome Xp11.23–p11.22 duplication syndrome is a rare genetic condition where a person has an extra copy (a duplication) of a small segment on the short arm ...

Partial deletion of the short arm of chromosome 9” means a person is missing a piece of DNA from the short arm (called “p”) of chromosome 9 in some or all body ...

Alfi syndrome is a rare genetic condition that happens when a person is missing a piece of chromosome 9 from the short arm (called “9p”). Because genes are ...

Chromosome 9p deletion syndrome happens when a small piece of the short arm (“p arm”) of chromosome 9 is missing. This missing piece is called a “deletion.” ...

Chromosome 8q21.11 deletion syndrome is a very rare genetic condition. A small piece is missing (deleted) from the long arm (q arm) of chromosome 8, in a ...

Chromosome 8q12.1-q21.2 deletion syndrome is a very rare genetic condition. In this condition, a small piece is missing (deleted) from the long arm (q arm) of ...