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Items: 2

1.

Tietz syndrome

Tietz albinism-deafness syndrome (TADS) is characterized by generalized pigment loss and congenital complete sensorineural hearing loss (summary by Izumi et al., 2008). [from OMIM]

MedGen UID:
98213
Concept ID:
C0391816
Disease or Syndrome
2.

Chromosome inversion disorder

A type of chromosome rearrangement in which a segment has been turned through 180 degrees (inverted), and inserted back into its original location on the chromosome. [from NCI]

MedGen UID:
7145
Concept ID:
C0021943
Cell or Molecular Dysfunction

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