Rare Disease Index

metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage

human disease

molybdenum cofactor deficiency that has material basis in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11

molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23

extremely rare genetic disorder which belongs to the overgrowth syndromes and has been diagnosed in only six cases around the world, and occurs in 1 in 100 million births

Human disease

human disease

disease

disease of the lower motor neurons

brachydactyly characterized by short, abducted thumbs and great toes

human disease

chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit

human disease

human disease

fibrous dysplasia of bone involving only one bone

medical condition

medical condition

rare disease

medical condition

human disease

human disease

human disease