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3
Disorder Name
3-methylglutaconic Aciduria with Cataracts, Neurologic Involvement and Neurtropenia
3MC Syndromes
A
Disorder Name
Abetalipoproteinemia
Ablepharon-Macrostomia Syndrome
Acrofacial Dysostosis, Cincinnati Type
Adenomatous Polyposis of the Colon
Adrenoleukodystrophy, Autosomal
Adrenoleukodystrophy, X-Linked
Aicardi Syndrome
Al Kaissi Syndrome
Alagille Syndrome
Aland Island Eye Disease
Albinism, Ocular Type 1
Albinism, Oculocutaneous, Type I
Albinism, Oculocutaneous, Type II
Albinism, Oculocutaneous, Type III
Albinism, Oculocutaneous, Type IV
Albinism, Oculocutaneous, Type V
Albinism, Oculocutaneous, Type VI
Albinism, Oculocutaneous, Type VII
Alkaptonuria
Alport Syndrome (Collagen IV-Related Nephropathies)
Alström Syndrome
Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps
Aniridia 1
Aniridia 2
Aniridia 3
Anterior Segment Dysgenesis 6
Anterior Segment Dysgenesis 8
Anterior Segment Mesenchymal Dysgenesis
Anterior Segment, Brain, and Facial Anomalies
Apert Syndrome
Aphakia, Congenital Primary
Arthrogryposis, Perthes Disease, and Upward Gaze Palsy
Asphyxiating Thoracic Dysplasia 1
Ataxia and Polyneuropathy, Adult-Onset
Ataxia with Oculomotor Apraxia 1
Ataxia with Oculomotor Apraxia 2
Ataxia with Oculomotor Apraxia 3
Ataxia with Oculomotor Apraxia 4
Ataxia-Telangiectasia
Autoinflammation with Arthritis and Dyskeratosis
Axenfeld-Rieger Anomaly, Plus
Axenfeld-Rieger Syndrome, Type 1
Axenfeld-Rieger Syndrome, Type 2
Axenfeld-Rieger Syndrome, Type 3
Axenfeld-Rieger Syndrome, Type 4
Ayme-Gripp Syndrome
B
Disorder Name
Baker-Gordon Syndrome
Baller-Gerold Syndrome
Baraitser-Winter Syndrome 1
Baraitser-Winter Syndrome 2
Barber-Say Syndrome
Bardet-Biedl Syndromes
Basal Cell Nevus Syndrome
Basel-Vanagaite-Smirin-Yosef Syndrome
Beare-Stevenson Syndrome
Behcet-Like Familial Autoinflammatory Syndrome
Behr Early Onset Optic Atrophy Syndromes
Behr Syndrome