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B-K Mole Syndrome
Bader Syndrome (Odontomatosis Aortae Oesophagus Stenosis, Odontoma Dysphagia Syndrome)
BADS Syndrome
Baelz Syndrome (Cheilitis Glandularis)
Bagatelle Cassidy Syndrome (Macrocephaly Short Limbs Deafness)
Bahemuka Brown Syndrome (Spastic Paraplegia Facial Cutaneous Lesions)
Baker Vinters Syndrome (Hydrocephalus Craniosynostosis Bifid Nose)
Ballard Syndrome (Brachydactyly, Combined B and E Types; Pitt Williams Brachydactyly)
Baller Gerold Syndrome
Ballinger Wallace Syndrome (Diabetes-Deafness Syndrome, Maternally Transmitted; Diabetes Mellitus, Noninsulin-Dependent/Type II, with Deafness)
Bamboo Hair Syndrome
Bamforth Syndrome (Hypothyroidism, Athyroidal, with Spiky Hair and Cleft Palate)
Bangstad Syndrome (Bird-Headed Dwarfism with Progressive Ataxia, Insulin-Resistant Diabetes, Goiter, and Primary Gonadal Insufficiency)
Banki Syndrome
Bannayan Riley Ruvalcaba (Mayre) Syndrome (Riley Smith Syndrome, Bannayan Zonana Syndrome, Ruvalcaba Myhre Smith Syndrome)
Bannayan Zonana Syndrome
Baraitser Brett Piesowicz Syndrome (Microcephaly Intracranial Calcification)
Baraitser Burn Fixen Syndrome
Baraitser Rodeck Garner Syndrome (Craniosynostosis Mental Retardation Clefting Syndrome)
Barakat('s) Syndrome (HDR Syndrome, Hypoparathyroidism Nerve Deafness Nephrosis)
Barber Say Syndrome (Hypertrichosis Atrophic Skin Ectropion Macrostomia)
Bardet Biedl Syndrome
Bare Lymphocyte Syndrome (Defective Expression of HLA Class 2, HLA Class 2-Negative)
Barnes Syndrome
Barr-Shaver-Carr Syndrome
Barrett Esophagus (Barrett Ulcer; BE; Chronic Peptic Ulcer and Esophagitis Syndrome; Columnar-Like Esophagus; Esophagitis-Peptic Ulcer; Gastroesophageal Reflux; GER)
Barrow Fitzsimmons Syndrome (Cardiofacial Syndrome Short Limbs, Short Limbs Abnormal Face Congenital Heart Disease)
Barry Perkins Young Syndrome
Bart Pumphrey Syndrome (Knuckle Pods Leuconychia Sensorineural Deafness)
Barth Syndrome (Cardiomyopathy, X Linked, Fatal Infantile; Cardioskeletal Myopathy-Neutropenia)
Bartsocas Papa Syndrome (Popliteal Pterygium Syndrome Lethal Type)
Bartter('s) Syndrome (BS, Chronic Metabolic Alkalosis, Hypokalemic Alkalosis with Hypercalciuria)
Basal Ganglia Calcification
Basal Ganglion Calcification
Basan Syndrome (Ectodermal Dysplasia Absent Dermatoglyphics)
Basaran Yilmaz Syndrome (Keratoderma Hypotrichosis Leukonychia)
Bassen Kornzweig Syndrome
Bassoe Syndrome (Muscular Dystrophy Congenital Infantile Cataract Hypogonadism)
Battaglia Neri Syndrome (Mental Retardation, Microcephaly, Epilepsy, and Coarse Face)
Batten Syndrome/Disease (Ceroid Lipofuscinose, Jansky-Bielschowsky Disease, Kufs Disease, Neuronal Ceroid-Lipofuscinose, Palmitoyl-Proteine Thioesterase Deficiency, Santavuori-Haltia Disease, Spielmeyer-Vogt Disease)
Baughman Syndrome (Chands Syndrome, Curly Hair Ankyloblepharon Nail Dysplasia Syndrome)
Bazex (Dupre Christol) Syndrome (Follicular Atrophoderma-Basal Cell Carcinoma)
Bazopoulou Kyrkanidou Syndrome (Craniofaciocervical Osteoglyphic Dysplasia)
BBB Syndrome
BD Syndrome (Kaveggia Syndrome, Mental Retardation Athetosis Microphthalmia)
Beals Syndrome (Auriculoosteodysplasia, Beals Type)
Beals Hecht Syndrome (CCA Syndrome; Congenital Contractural Arachnodactyly)
Bean Syndrome (Blue Rubber Bleb Nevus)
Beardwell Syndrome (Ankylosing Vertebral Hyperostosis with Tylosis)
Beare Stevenson Syndrome (Cutis Gyrata Syndrome of Beare and Stevenson)
Bébé Collodion Syndrome
Bechterew Syndrome
Becker Disease/Muscular Dystrophy (Myotonia Congenita; Thomsen Disease)
Beckwith Wiedemann Syndrome (Exomphalos-Macroglossia-Gigantism [EMG] Syndrome)
Beemer Ertbruggen Syndrome
Beemer Langer Syndrome
Begeer Syndrome (Cataract Ataxia Deafness Retardation)
Behcet Disease/Syndrome (Adamantiades-Behcet's Syndrome; Halushi-Behcet's Syndrome; Oculo-Bucco-Genital Syndrome; Touraine's Aphthosis; Triple Symptom Complex of Behcet)
Behmel Syndrome
Behr Syndrome
Behrens Baumann Dust Syndrome (Oculo Cerebral Dysplasia)
Beighton Goldberg Hoff Syndrome (Fairbank's Disease, Multiple Epiphyseal Dysplasia)
Bell's Palsy
Bellini Chiumello Rinoldi Syndrome (Mental Retardation Short Stature Wedge Shaped Epip)
Ben Ari Shuper Mimouni Syndrome
Benallegue Lacete Syndrome (Cloverleaf Skull Micromelia Thoracic Dysplasia)
Bencze Syndrome (Hemifacial Hyperplasia with Strabismus)
Benign Familial Infantile Convulsions/Epilepsy
Benign Hypermobility Syndrome
Benign Lymphoma
Benign Rolandic Epilepsy
Bennion Patterson Syndrome (Keratosis Palmoplantaris Adenocarcinoma of the Colon/Oesophageal Colon Cancer)
Bentham Driessen Hanveld Syndrome (Cryptorchidism Arachnodactyly Mental Retardation)
Beradinelli (Seip) Syndrome (Lipoatrophic Diabetes)
Berdon Syndrome (Megacystis Microcolon Intestinal Hypoperilstasis Hydronephrosis)
Berk Tabatznik Syndrome (Kyphosis Brachyphalangy Optic Atrophy)
Best Disease/Macular Dystrophy (Coloboma of Macula; Cystoid Macular Degeneration; Hereditary Hemorrhagic Macular Dystrophy; Macular Degeneration, Polymorphic Vitelline; Polymorphic Macula Lutea Degeneration; Sorsby Disease; Vitelline/Vitelliform Macular Dystrophy)
Beta-Mannosidosis (Lysosomal Beta-A-Mannosidase Deficiency)
Beta-Sarcoglycanopathy (Muscular Dystrophy Limb-Girdle with Beta-Sarcoglycan Deficiency)
Beta-Thalassemia
Betaketothiolase Deficiency (Mitochondrial Acetoacetyl-CoA Thiolase [MAT] deficiency)
Bethlem Myopathy (Benign Autosomal Dominant Myopathy)
Beveridge Syndrome (Macrocephaly Pigmentation Large Hands Feet)
Bhaskar Jagannathan Syndrome (Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation)
Biemond Congenital and Familial Analgesia
Biemond Syndrome (Brachydactyly Nystagmus Cerebellar Ataxia)
Biermer Disease (Addison's Anemia; Addison Biermer Anemia; Addisonian Pernicious Anemia; Pernicious Anemia, Congenital, Due to Defect of Intrinsic Factor; Primary Anemia)
Bifid Nose
Bifunctional Enzyme Deficiency
Bilateral Renal Agenesis
Bilginturan Syndrome (Brachydactyly Hypertension)
Biliary Atresia
Billard Toutain Maheut Syndrome (Developmental Dysphasia, Familial)
Billet Bear Syndrome (Lower Limb Partial Duplication Renal Agenesis)
Binder Syndrome (Maxillonasal Dysplasia Binder Type)
Bindewald Ulmer Muller Syndrome (Fallot Complex with Mental and Growth Retardation)
Biotinidase Deficiency (Multiple Carboxylase Deficiency, Late Onset)
Bird-Headed Dwarfism (Microcephalic Primordial Dwarfism, Type I; Nanocephalic Dwarfism; Seckel Syndrome/Type Dwarfism)
Bixler Christian Gorlin Syndrome (HMC Syndrome, Hypertelorism Microtia Facial Clefting Syndrome)
Bjornstad Syndrome (Deafness Alopecia Hypogonadism, Pili Torti Nerve Deafness)
Black Locks with Albinism and Deafness (BADS) Syndrome
Blackfan Diamond Anemia
Blaichman Syndrome (Tracheoesophageal Fistula Symphalangism)
Blastogenesis Defect
Blau Syndrome (Blau Type Arthrocutaneouveal Granulomatosis)
Blepharocheilodontic Syndrome (Clefting Ectropion Conical Teeth, Ectropion Inferior Cleft Lip and/or Palate)
Blepharofacioskeletal Syndrome (Richieri costa guion almeida rodini syndrome)
Blepharonasofacial Syndrome
Blepharonasofacial Malformation Syndrome
Blepharophimosis
Syndrome
Ohdo Type with Epicanthus Inversus and Ptosis with Growth Retardation and Nasal Groove with Ptosis, Short Stature, and Syndactyly with Radioulnar Synostosis
Blepharoptosis
with Aortic Anomaly with Ectopia Lentis and Myopia
Blethen Wenick Hawkins Syndrome (Hypopituitarism with Dwarfism and Skeletal Anomalies)
Blindness
Bloch-Siemens Syndrome
Bloch-Sulzberger Syndrome
Blomstrand Syndrome (Dwarfism, Lethal Type, with Advanced Bone Age)
Bloom('s) (Torre Machacek) Syndrome (Dwarfism, Levi's Type; Short Stature and Facial Telangiectasis; Short Stature, Telangiectatic Erythema of the Face)
Blount Disease (Osteochondrosis Deformans Tibiae, Familial Infantile Type; Tibia Vara)
Blue Cone Monochromatism
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