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Ag-Am
Aganglionosis
- Congenital
- Isolated Segmental
- Total
Aganthia
- with Holoprosencephaly and Situs Inversus
Agammaglobulinemia
Agenesis of the Cerebellar Vermis
Agenesis of the Corpus Callosum
Aglossia Adactylia (Oromandibular Limb Hypoplasia)
Agnathia
Agyria-Pachygyria
Aicardi Syndrome
Aicardi-Goutieres Syndrome (Encephalopathy-Basal Ganglia Calcification)
Åkesson Syndrome (Cutis Verticis Gyrata with Thyroid Aplasia and Mental Retardation)
Aksu Stockhausen Syndrome (Branchial Arch Defects)
Al-Awadi Farag Teebi Syndrome (Primary Hypogonadism with Partial Alopecia)
Al Awadi/Raas Rothschild Syndrome
Al Awadi Teebi Farag Syndrome (Al Awadi/Raas Rothschild Syndrome, Limb/Pelvis-Hypoplasia/Aplasia Syndrome, Schinzel Phocomelia Syndrome, Ulna and Fibula Absence of Severe Limb Deficit)
Al Frayh Facharzt Haque Syndrome (Anophthalmia with Hypogonadism and Microcephaly)
Al Gazali Al Talabani Syndrome (Eye Defects with Arachnodactyly and Cardiopathy)
Al Gazali Donnai Muller Syndrome (Al Gazali Hirschsprung Syndrome)
Al Gazali Hirschsprung Syndrome
Al Gazali Khidr Prem Chandran Syndrome (Cherubism Optic Atrophy Short Stature)
Al Gazali Sabrinathan Nair Syndrome (Osteogenesis Imperfecta Retinopathy)
Alagille (Watson) Syndrome (Arteriohepatic Dysplasia, [Hepatofacioneuro]cardiovertebral Syndrome, Watson Miller Syndrome)
Aland Island Eye Disease
Alanine-Glyoxylate Aminotransferase Deficiency
Alar Nasal Cartilages Coloboma of Telecanthus (Frontonasal Dysplasia with Alar Clefts)
Albers Schonberg Disease (Marble Bones, Autosomal Dominant; Osteopetrosis, Autosomal Dominant; Osteosclerosis Fragilis Generalisata)
Albinism
Albrecht Schneider Belmont Syndrome (Micrencephaly Olivopontocerebellar Hypoplasia)
Albright Hereditary Osteodystrophy (Pseudohypoparathyroidism and Pseudopseudohypoparathyroidism, Type I and II)
Albright-Like Syndrome (Monosomy 2q37)
(McCune) Albright Syndrome (Polyostotic Fibrous Dysplasia)
Alcohol Antenatal Infection
Aldolase A Deficiency
Aldosterone Synthase Deficiency (Hypoaldosteronism)
Alexander('s) Disease/Syndrome
Alkaptonuria(, Hereditary) (Alkaptonuric Ochronosis, Homogentisic Acid Oxidase Deficiency, Homogentisic Acidura, Ochronosis, Ochronotic Arthritis)
Alkaptonuric Ochronosis
Allain Babin Demarquez Syndrome
Allan Herndon (Dudley) Syndrome (Mental Retardation, X-Linked, with Hypotonia)
Allanson Pantzar McLeod Syndrome (PRIMITIVE RENAL TUBULE SYNDROME, Renotubular Dysgenesis)
Allgrove Syndrome
Aloi Tomasini Isaia Syndrome (Basal Cell Nevus Anodontia Abnormal Bone Mineralization)
Alopecia
- List of Sites
- -Contractures-Dwarfism-Mental Retardation Syndrome
- -Epilepsy-Oligophrenia Syndrome of Moynahan
- -Mental Retardation [AMR] Syndrome
- with Convulsions and Hypergonadotropic Hypogonadism
- -Poliosis-Uveitis-Vitiligo-Deafness-Cutaneous-Uveo-Oto Syndrome
Alpers Disease (Alpers Progressive Sclerosing Poliodystrophy, Diffuse Cerebral Degeneration in Infancy, Poliodystrophia Cerebri Progressiva/Progressive Cerebral Poliodystrophy)
Alpha 1 Antitrypsin Deficiency (Cholestasis, Neonatal)
Alpha 2 Deficient Collagen Disease
Alpha High-Density Lipoprotein Deficiency
Alpha-Galactosidase A Deficiency
Alpha-Ketoglutarate Dehydrogenase Deficiency
Alpha-L-Fucosidase Deficiency
Alpha-L-Iduronidase Deficiency
Alpha-Lipoprotein Deficiency
Alpha-Mannosidosis (Lysosomal Alpha-D-Mannosidase Deficiency; Mannosidosis[, Alpha B, Lysomal])
Alpha-Sarcoglycanopathy (Muscular Dystrophy Limb-Girdle with Alpha-Sarcoglycan Deficiency)
Alpha-Thalassemia
Alpha-Thalassemia-Mental Retardation Syndrome
- X-Linked (Alpha Thalassemia-Mental Retardation Syndrome, Nondeletion Type)
Alphalipoproteinemia
Alport Deafness-Nephropathy
Alport Syndrome (Alport Deafness-Nephropathy, [Deafness/Hearing Loss]-Nephritis Syndrome, Dickinson Syndrome)
- List of Sites
- with Macrothrombocytopenia
- with Macrothrombocytopenia and Leukocyte Inclusions
Alstroem's Syndrome
Alstrom Syndrome (Alstroem's Syndrome)
Alternating Hemiplegia of Childhood (Alternating Hemiplegia Syndrome)
Alves dos Santos Castello Syndrome
Amaurosis Congenita of Leber
Amaurosis Hypertrichosis
Ambras Syndrome (Hypertrichosis Universaslis Congenita, Ambras Type)
Amegakaryocytic Thrombocytopenia
Amelia Facial Dysmorphism
Amelo Cerebro Hypohidrotic Syndrome
Amelogenesis Imperfecta
Ameloonychohypohidrotic Syndrome
Aminopterin Antenatal Infection
Aminopterin-Like Syndrome without Aminopterin
Amish Brittle Hair Syndrome
Amniotic (Constriction) Bands Sequence/Syndrome (ADAM Complex, Familial; Congenital Constricting Bands; Familial Amniotic Bands; Streeter Anomaly; Terminal Transverse Defects of Arm)
Ampola Syndrome (Mental Retardation with Unusual Facies, Ampola Type)
Amylo-1,6-Glucosidase Deficiency (Cori['s] Disease; Debrancher Enzyme Deficiency; Forbes Disease; Glycogen Storage Disease, Type III)
Amyloidosis'
Amylopectinosis
Amyoplasia
Amyotrophy
- Lateral Sclerosis
- with Fat Tissue Anomaly
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