Dictionary
Bardet–Biedl Syndrome: Ciliopathy & Genetics
A comprehensive academic analysis of Bardet–Biedl syndrome (BBS), exploring its genetic causes, primary ciliary dysfunction,...
Rare Diseases
16 results
Dictionary
Axenfeld–Rieger Syndrome: Genetic and Clinical Insights
Axenfeld–Rieger syndrome is a rare autosomal dominant neurocristopathy characterized by anterior eye segment malformations, high...
November 8, 2026
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Dr. Mohammed Looti
Dictionary
Athyreosis: Thyroid Agenesis and Endocrine Care
Athyreosis is the complete congenital absence of the thyroid gland, leading to severe primary congenital...
November 7, 2026
•
Dr. Mohammed Looti
Dictionary
Athymia: The Dual Voids of Affect and Thymus
Athymia is a multifaceted scientific term referring either to the complete absence of emotional affect...
November 7, 2026
•
Dr. Mohammed Looti
Dictionary
Ataxia Telangiectasia: DNA Repair and Neurodegeneration
Ataxia telangiectasia is a severe autosomal recessive disorder characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency,...
November 7, 2026
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Dr. Mohammed Looti
Dictionary
Appelt–Gerken–Lenz Syndrome: Rare Cohesinopathy
Appelt–Gerken–Lenz syndrome, universally known as Roberts syndrome, is an ultra-rare autosomal recessive cohesinopathy caused by...
November 6, 2026
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Dr. Mohammed Looti
Dictionary
Aniridia: Genetic Causes and Clinical Insights
Aniridia is a rare congenital panocular condition characterized by the hypoplasia or absence of the...
October 23, 2026
•
Dr. Mohammed Looti
Dictionary
Andrade’s Syndrome: Hereditary Neuropathy
Explore Andrade's syndrome (familial amyloid polyneuropathy type I), an inherited transthyretin amyloidosis causing severe sensorimotor...
October 8, 2026
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Dr. Mohammed Looti
Dictionary
Amsterdam Dwarfism: Clinical Profile
Amsterdam dwarf disease, clinically termed Cornelia de Lange syndrome (CdLS), is a rare genetic cohesinopathy...
October 7, 2026
•
Dr. Mohammed Looti
Dictionary
Amalric’s Syndrome: Deafness & Retinal Dystrophy
Amalric's syndrome (Diallinas-Amalric syndrome) is an inherited sensory condition pairing congenital sensorineural deafness with atypical...
October 6, 2026
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Dr. Mohammed Looti
Dictionary
Alström–Hallgren Syndrome: Rare Ciliopathy Insights
A comprehensive academic entry exploring Alström–Hallgren syndrome, an ultra-rare monogenic ciliopathy characterized by cone-rod dystrophy,...
October 6, 2026
•
Dr. Mohammed Looti
Dictionary
Albright Hereditary Osteodystrophy: Genetic Guide
Explore Albright hereditary osteodystrophy (AHO), an inherited disorder linked to GNAS mutations, featuring brachydactyly, short...
October 6, 2026
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Dr. Mohammed Looti