Disease Index

Human disease

human disease

instance of schizencephaly that is caused by an inherited modification of the individual's genome

instance of syringomyelia that is caused by an inherited modification of the individual's genome

Human disease

temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has material basis in variation in the chromosome region 12q22-q23.3

temporal lobe epilepsy characterized by simple or complex partial seizures often accompanied by intense feelings of deja or altered awareness and that has material basis in variation in the chromosome region 4q13.2-q21.3

temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has material basis in variation in the chromosome region 9q21-q22

temporal lobe epilepsy that has material basis in heterozygous mutation in the CPA6 gene on chromosome 8q13

temporal lobe epilepsy that has material basis in variation in the chromosome region 3q25-q26

temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22

temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has material basis in heterozygous mutation in the GAL gene on chromosome 11q13

medical condition

type of amyloidosis that mostly affects the kidney

human genetic disease

Fanconi anemia that has material basis in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13

human disease

renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting

extremely rare autosomal recessive lysosomal storage disease marked by a deficiency in the enzyme ceramidase

hypersensitivity pneumonitis

human disease

Prion disease of the human brain

mitochondrial metabolism disease that has material basis in a mutation in the SCO2 gene which encodes a COX assembly factor and results in deficiency of cytochrome c oxidase

myofibrillar myopathy that has material basis in homozygous mutation in the CRYAB gene on chromosome 11q23

human disease

mitochondrial metabolism disease that is characterized by variants in genes involved in mitochondrial energy production, resulting in impairment of energy production at more than one stage of energy metabolism

human disease