Dictionary
Albright’s Disease: Mosaic Bone & Endocrine Disorder
Albright's disease (McCune-Albright syndrome) is a mosaic genetic disorder caused by somatic GNAS mutations, presenting...
Rare Diseases
16 results
Dictionary
Albinism: Genetics, Vision, and Phenotypes
Albinism is an inherited metabolic condition defined by disrupted melanin synthesis. Explore its genetic etiology,...
October 6, 2026
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Dr. Mohammed Looti
Dictionary
Adult Progeria: Decoding Werner Syndrome
Adult progeria, or Werner syndrome, is an ultra-rare autosomal recessive disorder caused by WRN gene...
October 6, 2026
•
Dr. Mohammed Looti
Dictionary
Acrodysostosis: Skeletal and Endocrine Rare Disease
Acrodysostosis is a rare genetic disorder characterized by severe skeletal dysplasia, brachydactyly, facial dysmorphism, and...
October 5, 2026
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Dr. Mohammed Looti