A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33.
Comprehensive, easy-to-understand information about this condition
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Gene data from MyGene.info • Click to view on NCBI Gene
autosomal dominant polycystic liver disease
MONDO:0000447
tuberous sclerosis
MONDO:0001734
Treacher-Collins syndrome
MONDO:0002457
hereditary breast ovarian cancer syndrome
MONDO:0003582
autosomal dominant polycystic kidney disease
MONDO:0004691
Lynch syndrome
MONDO:0005835