Disease Index

human disease

human disease

syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth

lethal congenital contracture syndrome that has material basis in homozygous or compound heterozygous mutation in the mRNA export mediator GLE1 on chromosome 9q34

lethal congenital contracture syndrome that can be that has material basis in homozygous mutation in the ERBB3 gene on chromosome 12q13

lethal congenital contracture syndrome that has material basis in homozygous mutation in the PIP5K1C gene on chromosome 19p13

lethal congenital contracture syndrome that has material basis in homozygous mutation in the MYBPC1 gene on chromosome 12q23

glycogen storage disease characterized by autosomal dominant inheritance of glycogenosis confined to the heart, hypoglycemia and cyanosis that has material basis in heterozygous mutation in the PRKAG2 gene on chromosome 7q36

human disease

Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome

human disease

human disease

human disease

human disease

human disease

human disease

human disease

genetic disorder

human disease

human disease

type of Langerhans cell histiocytosis typically present in children

leukocyte adhesion deficiency that is characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit

leukocyte adhesion deficiency that has material basis in mutation of the KIND3 gene on chromosome 11q13.1

leukocyte adhesion deficiency that has material basis in mutation of the ITGB2 gene on chromosome 21q22.3

Human disease

human disease