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Items: 2

1.

Autosomal dominant striatal neurodegeneration type 1

Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia (summary by Kuhlenbaumer et al., 2004). Genetic Heterogeneity of Autosomal Dominant Striatal Degeneration See also ADSD2 (616922), caused by mutation in the PDE10A gene (610652) on chromosome 6q27. [from OMIM]

MedGen UID:
934775
Concept ID:
C4310808
Disease or Syndrome
2.

Pigmented nodular adrenocortical disease, primary, 3

Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene. [from MONDO]

MedGen UID:
481724
Concept ID:
C3280094
Disease or Syndrome

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