Disease Index

autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia

human disease

human disease

disease

medical condition

Human disease

medical condition

Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth

X-linked intellectual disability, Atkin type

alpha thalassemia that has material basis in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others

human disease

Human disease

malformation

Congenital anomaly characterized by closure or failure to develop an opening in the urethra

human disease

human disease

human disease

heart septal defect located in the septum that separates the two atria of the heart

atrial heart septal defect that has material basis in heterozygous mutation in the NKX2-5 gene on chromosome 5q35

human disease

human disease

human disease

human disease

Human disease

medical condition