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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:syndrome
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Accession:DOID:225 term browser browse the term
Definition:A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality. (DO)
Synonyms:exact_synonym: symptom cluster;   symptom clusters;   syndromes
 primary_id: MESH:D013577
 xref: NCI:C28193
For additional species annotation, visit the Alliance of Genome Resources.


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      disease 15809
        syndrome 10611
          16Q24.3 Microdeletion Syndrome 32
          3-M syndrome + 3
          3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 27
          3MC syndrome + 18
          47, XYY Syndrome 0
          49,XXXXX Syndrome 0
          5-Nucleotidase Syndrome 0
          7p2 Monosomy Syndrome 0
          ARC syndrome + 3
          AREDYLD Syndrome 0
          Aagenaes syndrome 1
          Aarskog syndrome + 2
          Aase Smith Syndrome 0
          Abderhalden-Kaufmann-Lignac Syndrome 4
          Abruzzo-Erickson syndrome 1
          Abuse Dwarfism Syndrome 0
          Achard syndrome 0
          Achard-Thiers Syndrome 0
          Achenbach syndrome 0
          Ackerman Syndrome 0
          Acromegaloid Facial Appearance Syndrome 0
          Acrootoocular Syndrome 0
          Acropectoral Syndrome 0
          Acrorenal Mandibular Syndrome 0
          Acute Coronary Syndrome 55
          Acute Radiation Syndrome 0
          Acute Retroviral Syndrome 0
          Adams Nance Syndrome 0
          Adams-Oliver syndrome + 93
          Adams-Stokes Syndrome 0
          Adducted Thumbs Syndrome + 2
          Adie syndrome 0
          Adrenogenital Syndrome + 25
          Aicardi syndrome 1
          Akaba Hayasaka Syndrome 0
          Akesson Syndrome 0
          Aksu von Stockhausen Syndrome 0
          Al Gazali Aziz Salem Syndrome 0
          Al Gazali Hirschsprung Syndrome 0
          Al Gazali Khidr Prem Chandran Syndrome 0
          Al Gazali Sabrinathan Nair Syndrome 0
          Al Kaissi Syndrome 1
          Al-Gazali Syndrome 1
          Al-Raqad Syndrome 1
          Alagille syndrome + 14
          Alazami Syndrome 2
          Alazami-Yuan Syndrome 3
          Albinism Deafness Syndrome 0
          Aldred Syndrome 0
          Alice in Wonderland Syndrome 0
          Alien Hand Syndrome 0
          Alkuraya-Kucinskas syndrome 1
          Allan-Herndon-Dudley syndrome 1
          Aloi Tomasini Isaia Syndrome 0
          Alport syndrome + 17
          Alsing Syndrome 0
          Alstrom syndrome 14
          Alves Castelo dos Santos Syndrome 0
          Ameloonychohypohidrotic Syndrome 0
          Amniotic Band Syndrome + 0
          Angelman syndrome 27
          Angelucci's syndrome 0
          Anophthalmia Plus Syndrome 0
          Ansell Bywaters Elderking Syndrome 0
          Anticholinergic Syndrome 0
          Antley-Bixler syndrome + 3
          Aortic Arch Syndromes + 7
          Arboleda-Tham syndrome 1
          Arena Syndrome 0
          Arima Syndrome 0
          Armfield syndrome 1
          Arnold Stickler Bourne Syndrome 0
          Arroyo Garcia Cimadevilla Syndrome 0
          Arts syndrome 2
          Asperger syndrome 4
          Asrar Facharzt Haque Syndrome 1
          Astley-Kendall Syndrome 0
          Asymmetric Short Stature Syndrome 0
          Ataxia-Microcephaly-Cataract Syndrome 0
          Atkin Syndrome 11
          Aughton Syndrome 0
          Auriculocondylar Syndrome + 4
          Ausems Wittebol-Post Hennekam Syndrome 0
          Autonomic Dysreflexia 0
          Autosomal Dominant Compelling Helio Ophthalmic Outburst Syndrome 0
          Axenfeld-Rieger syndrome + 37
          Ayazi Syndrome 0
          Ayme-Gripp syndrome 1
          BADS syndrome 0
          Baastrup's syndrome 0
          Baetz-Greenwalt Syndrome 0
          Bagatelle Cassidy Syndrome 0
          Bahemuka Brown Syndrome 0
          Bainbridge-Ropers syndrome 1
          Baker Vinters Syndrome 0
          Baker-Gordon Syndrome 1
          Baller-Gerold syndrome 8
          Bangstad Syndrome 0
          Banki Syndrome 0
          Banti's Syndrome 4
          Baraitser Rodeck Garner syndrome 0
          Baraitser-Winter syndrome + 14
          Baralle-Macken Syndrome 1
          Barber-Say syndrome 1
          Bardet-Biedl syndrome + 233
          Barre-Lieou syndrome 0
          Bart-Pumphrey syndrome 1
          Barth syndrome + 69
          Bartter disease + 9
          Basaran Yilmaz Syndrome 1
          Basel-Vanagaite-Smirin-Yosef syndrome 1
          Bassoe Syndrome 0
          Battaglia Neri Syndrome 0
          Battered Child Syndrome 0
          Bazex-Dupre-Christol Syndrome 0
          Bazopoulou Kyrkanidou Syndrome 0
          Beardwell Syndrome 0
          Beare-Stevenson cutis gyrata syndrome 1
          Beaulieu-Boycott-Innes Syndrome 2
          Beck-Fahrner Syndrome 1
          Becker Nevus Syndrome 1
          Beckwith-Wiedemann syndrome + 68
          Beemer Ertbruggen Syndrome 0
          Beemer-Langer syndrome 6
          Behr syndrome 1
          Behrens Baumann Dust Syndrome 0
          Bell's palsy 1
          Bellini Chiumello Rimoldi Syndrome 0
          Ben Ari Shuper Mimouni Syndrome 0
          Bent Bone Dysplasia Syndrome + 3
          Berk-Tabatznik Syndrome 0
          Bernard-Soulier syndrome + 5
          Bhaskar Jagannathan Syndrome 0
          Birk-Barel syndrome 2
          Birk-Landau-Perez Syndrome 1
          Bjornstad syndrome 1
          Blue Diaper Syndrome 0
          Blue Rubber Bleb Nevus Syndrome 2
          Bobble-Head Doll Syndrome 0
          Boerhaave Syndrome 0
          Bohring Syndrome 2
          Bonneau Syndrome 0
          Book Syndrome 0
          Borjeson-Forssman-Lehmann syndrome 1
          Bork Stender Schmidt Syndrome 0
          Bosch-Boonstra-Schaaf optic atrophy syndrome 4
          Boucher-Neuhauser syndrome 2
          Boudhina Yedes Khiari syndrome 0
          Bowen Syndrome 0
          Bowen-Conradi syndrome 1
          Boylan Dew Greco Syndrome 0
          Brachymesomelia Renal Syndrome 0
          Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 0
          Brain-Lung-Thyroid Syndrome 174
          Branchiogenic-Deafness Syndrome 0
          Bresheck/Bresek Syndrome 0
          Brown-Sequard syndrome 0
          Brown-Vialetto-Van Laere syndrome + 58
          Bruck syndrome + 3
          Brugada syndrome + 153
          Brunner syndrome 3
          Brunoni Syndrome 0
          Budd-Chiari syndrome + 5
          Burn-McKeown syndrome 15
          Burnett Schwartz Berberian Syndrome 1
          Buschke-Ollendorff syndrome 2
          C syndrome 1
          CAHMR Syndrome 0
          CAMFAK Syndrome 0
          CANOMAD Syndrome 0
          CAPOS Syndrome 1
          CEREBROFACIAL ARTERIOVENOUS METAMERIC SYNDROME 1
          CHARGE syndrome 20
          CHILD syndrome 1
          CHITAYAT SYNDROME 1
          CHOPS Syndrome 1
          CHROMOSOME 2p16.3 DELETION SYNDROME 1
          CK syndrome 1
          CLAPO Syndrome 1
          CLOVES syndrome 3
          COACH syndrome + 5
          CODAS syndrome 1
          CREST syndrome 2
          Calabro Syndrome 0
          Camera Marugo Cohen Syndrome 0
          Camptodactyly Syndrome Guadalajara Type + 0
          Camptodactyly-Ichthyosis Syndrome 0
          Cantalamessa Baldini Ambrosi Syndrome 0
          Cantu Sanchez-Corona Fragoso Syndrome 0
          Capgras syndrome 0
          Caplan's syndrome 0
          Cardiac-Urogenital Syndrome 1
          Cardio-Renal Syndrome 2
          Cardiocranial Syndrome 0
          Cardiofacioneurodevelopmental Syndrome 1
          Cardiomyopathy Hypogonadism Collagenoma Syndrome 0
          Carnevale Hernandez Castillo Syndrome 0
          Carney complex + 3
          Carney-Stratakis syndrome 21
          Caroli syndrome 1
          Carpenter syndrome + 80
          Carrington Syndrome 3
          Cartilage Hair Hypoplasia Like Syndrome 0
          Cartwright Nelson Fryns Syndrome 0
          Carvajal syndrome + 3
          Cataract Microcornea Syndrome 2
          Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 0
          Cauda equina syndrome 0
          Cayler Cardiofacial Syndrome 1
          Central Cord Syndrome 0
          Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 0
          Cerebrooculonasal Syndrome 0
          Cervical Rib Syndrome + 0
          Chang Davidson Carlson Syndrome 0
          Char syndrome 1
          Chemke Oliver Mallek Syndrome 0
          Chiari-Frommel Syndrome 0
          Chilaiditi Syndrome 0
          Chitayat Meunier Hodgkinson Syndrome 0
          Chitayat Moore Del Bigio Syndrome 0
          Chitty Hall Baraitser Syndrome 0
          Chitty Hall Webb Syndrome 0
          Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 0
          Chromosome 4, 4q Terminal Deletion Syndrome 0
          Chromosome 4q- Syndrome 0
          Chromosome 6 Ring Syndrome 0
          Chromosome 7 Ring Syndrome 0
          Chromosome Xp11.3 Deletion Syndrome 0
          Chromosome Xq Duplication Syndrome 0
          Chudley-Mccullough syndrome 2
          Chudley-Rozdilsky Syndrome 0
          Circumvallate Placenta Syndrome 0
          Ciuffo Syndrome 0
          Clark-Baraitser syndrome 1
          Cleidorhizomelic Syndrome 0
          Cockayne syndrome + 36
          Coffin-Lowry syndrome 17
          Coffin-Siris syndrome + 21
          Cogan syndrome + 2
          Cohen syndrome 36
          Cohen-Gibson Syndrome 1
          Cole-Carpenter syndrome + 2
          Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 0
          Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome + 2
          Congenital Bone Marrow Failure Syndromes + 12
          Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 0
          Congenital Pain Insensitivity + 12
          Conn's syndrome 0
          Corneal Cerebellar Syndrome 0
          Cornelia de Lange syndrome + 46
          Corneodermatoosseous Syndrome 0
          Coronary-Subclavian Steal Syndrome 0
          Cote Katsantoni Syndrome 0
          Cousin Syndrome 1
          Cowden-Like Syndrome 0
          Coxoauricular Syndrome 0
          Cracked Tooth Syndrome 0
          Crane-Heise Syndrome 0
          Cranioacrofacial Syndrome 0
          Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome 1
          Craniofaciofrontodigital Syndrome 0
          Craniofacioskeletal Syndrome 0
          Craniomicromelic Syndrome 0
          Craniosynostosis Mental Retardation Clefting Syndrome 0
          Cree Mental Retardation Syndrome 0
          Crigler-Najjar syndrome + 0
          Crome Syndrome 0
          Crouzon syndrome-acanthosis nigricans syndrome 1
          Crush Syndrome 1
          Cryopyrin-Associated Periodic Syndromes + 35
          Cryptomicrotia Brachydactyly Syndrome 0
          Cubital Tunnel Syndrome 0
          Curatolo Cilio Pessagno Syndrome 0
          Curly Hair-Acral Keratoderma-Caries Syndrome 0
          Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome 1
          Currarino syndrome 60
          Cushing Syndrome + 11
          Cutis Laxa-Marfanoid Syndrome 0
          Cyclic Vomiting Syndrome + 0
          Cyprus Facial Neuromusculoskeletal Syndrome 0
          DEEAH Syndrome 1
          DICER1 syndrome 24
          DK Phocomelia Syndrome 0
          DOORS syndrome 3
          Daentl Towsend Siegel Syndrome 0
          Dahlberg Borer Newcomer Syndrome 0
          Daish Hardman Lamont Syndrome 0
          Dandy-Walker syndrome + 30
          Daneman Davy Mancer Syndrome 0
          Davenport Donlan Syndrome 0
          Davis Lafer Syndrome 0
          De Hauwere Leroy Adriaenssens syndrome 0
          De Hauwere syndrome 2
          DeSanto-Shinawi syndrome 1
          Deafness, with Smith-Magenis Syndrome 1
          Deafness-Craniofacial Syndrome 0
          Deafness-Hypogonadism Syndrome 0
          Deafness-Oligodontia Syndrome 0
          Deal Barratt Dillon Syndrome 0
          Delpire-McNeill Syndrome 1
          Dennis Fairhurst Moore Syndrome 0
          Denys-Drash syndrome 8
          Der Kaloustian Mcintosh Silver Syndrome 0
          Dermal Ridges, Nelson Syndrome 0
          Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities 21
          Devriendt syndrome 0
          Dianzani Autoimmune Lymphoproliferative Syndrome 0
          Diarrhea prodrome + Hemolytic-Uremic Syndrome 1
          Diets-Jongmans Syndrome 1
          Dincsoy Salih Patel Syndrome 0
          Distal Trisomy 10q Syndrome 0
          Donnai-Barrow syndrome 2
          Donohue syndrome 1
          Drachtman Weinblatt Sitarz Syndrome 0
          Drug Hypersensitivity Syndrome 13
          Duane retraction syndrome + 14
          Duane-radial ray syndrome 2
          Dubowitz syndrome 0
          Duker Weiss Siber syndrome 0
          Duplication 4p Syndrome 0
          Dursun Syndrome 1
          Dyggve-Melchior-Clausen disease + 2
          Dykes Markes Harper Syndrome 0
          EAST syndrome 4
          ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME 1
          EDICT Syndrome 0
          EEC syndrome + 1
          EVEN-PLUS SYNDROME 1
          Eagle Syndrome 0
          Ectodermal Dysplasia-Skin Fragility Syndrome 2
          Ectrodactyly-Cleft Palate Syndrome 0
          Edinburgh Malformation Syndrome 0
          Ehlers-Danlos syndrome + 260
          Elliott Ludman Teebi Syndrome 0
          Ellis Yale Winter Syndrome 0
          Elsahy-Waters syndrome 1
          Emanuel Syndrome 0
          Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission + 5
          Evans' syndrome + 9
          FACES Syndrome 0
          FG syndrome + 15
          FLOTCH Syndrome 0
          Facio Thoraco Genital Syndrome 0
          Faciocardiomelic Syndrome 0
          Faciocardiorenal Syndrome 0
          Failed Back Surgery Syndrome 0
          Familial Antiphospholipid Syndrome 0
          Familial Hyperchylomicronemia Syndrome 2
          Fanconi syndrome + 13
          Fara Chlupackova Syndrome 0
          Faundes-Banka Syndrome 15
          Faye-Petersen Ward Carey Syndrome 0
          Feingold Trainer Syndrome 0
          Feingold syndrome + 2
          Feline Acquired Immunodeficiency Syndrome 0
          Felty's syndrome 0
          Female Athlete Triad Syndrome 0
          Femoral Facial Syndrome 0
          Femur Fibula Ulna Syndrome 0
          Fetal Hydantoin Syndrome 0
          Fetal Inflammatory Response Syndrome 1
          Fetal Trimethadione Syndrome 0
          Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 0
          Filippi syndrome 2
          Fine-Lubinsky Syndrome 3
          Fitz-Hugh-Curtis Syndrome 0
          Fitzsimmons Walson Mellor Syndrome 0
          Fitzsimmons-Guilbert Syndrome 0
          Fitzsimmons-McLachlan-Gilbert syndrome 0
          Floating-Harbor syndrome 1
          Flynn Aird Syndrome 0
          Foix-Chavany-Marie Syndrome 0
          Forney Robinson Pascoe Syndrome 1
          Forsythe-Wakeling Syndrome 0
          Foster-Kennedy syndrome 0
          Fountain Syndrome 0
          Frank-Ter Haar syndrome 1
          Fraser Jequier Chen Syndrome 0
          Fraser syndrome + 20
          Fraser-Like Syndrome 0
          Frasier syndrome 1
          Freeman-Sheldon syndrome + 1
          Freire-Maia Odontotrichomelic Syndrome 0
          Frenkel Russe Syndrome 0
          Frey syndrome 0
          Frias Syndrome 0
          Fried Goldberg Mundel Syndrome 0
          Frints De Smet Fabry Fryns Syndrome 0
          Frontoocular Syndrome 0
          Fryns Hofkens Fabry Syndrome 0
          Fryns Syndrome 0
          Fuchs' heterochromic uveitis 0
          Fuhrmann syndrome 1
          Furukawa Takagi Nakao Syndrome 0
          GABRIELE-DE VRIES SYNDROME 1
          GAPO syndrome 1
          GOMBO Syndrome 0
          GRACILE syndrome 1
          Galloway-Mowat syndrome + 13
          Game Friedman Paradice Syndrome 0
          Gamstorp-Wohlfart syndrome 1
          Gardner Morrisson Abbot Syndrome 0
          Gardner Syndrome + 2
          Gardner-Diamond Syndrome 0
          Garret Tripp Syndrome 0
          Gas Bloat Syndrome 0
          Gastrocutaneous Syndrome 0
          Gay Feinmesser Cohen Syndrome 0
          Gemignani Syndrome 0
          Genito Palato Cardiac Syndrome 0
          Genitopatellar Syndrome 17
          Genoa Syndrome 0
          German Syndrome 0
          Gerstmann syndrome 0
          Ghosal hematodiaphyseal syndrome 1
          Ghose Sachdev Kumar Syndrome 0
          Giacheti Syndrome 0
          Gilles de la Tourette syndrome + 12
          Gillespie syndrome 2
          Gitelman syndrome 11
          Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 1
          Goldberg-Shprintzen syndrome 65
          Goldblatt Viljoen Syndrome 0
          Goldenhar syndrome + 6
          Goldstein Hutt Syndrome 0
          Gollop Coates Syndrome 0
          Goniodysgenesis-Mental Retardation-Short Stature Syndrome 0
          Goodpasture syndrome + 51
          Gorham's disease + 1
          Gorlin Bushkell Jensen Syndrome 0
          Gorlin Chaudhry Moss Syndrome 0
          Granddad Syndrome 0
          Grange Syndrome 2
          Grant Syndrome 0
          Green Sandford Davison Syndrome 0
          Greig cephalopolysyndactyly syndrome 6
          Groll Hirschowitz Syndrome 0
          Growth Hormone Insensitivity with Immune Dysregulation + 4
          Grubben de Cock Borghgraef Syndrome 0
          Guillain-Barre syndrome + 9
          Gurrieri Sammito Bellussi Syndrome 0
          Guttmacher syndrome 1
          HAIR-AN syndrome 0
          HEART AND BRAIN MALFORMATION SYNDROME 1
          HELIX syndrome 1
          HELLP syndrome 6
          HID Syndrome 1
          HIV Enteropathy 0
          HIV Wasting Syndrome 4
          HIV-Associated Lipodystrophy Syndrome 6
          HUPRA Syndrome 2
          HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME 1
          HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES 1
          Hadziselimovic Syndrome 0
          Hagemoser Weinstein Bresnick Syndrome 0
          Hajdu-Cheney syndrome 10
          Halal Setton Wang Syndrome 0
          Halal Syndrome 0
          Hall Riggs Mental Retardation Syndrome 0
          Hallermann-Streiff syndrome + 0
          Halperin-Birk syndrome 1
          Hamamy Syndrome 1
          Hamanishi Ueba Tsuji Syndrome 0
          Hamano Tsukamoto Syndrome 0
          Hammer Toe Syndrome 0
          Hand-Arm Vibration Syndrome 0
          Hand-Foot Syndrome 1
          Hanhart Syndrome 0
          Hantavirus hemorrhagic fever with renal syndrome + 9
          Hapnes Boman Skeie Syndrome 0
          Hardikar Syndrome 1
          Harel-Yoon syndrome 3
          Harlequin Syndrome 0
          Harrod Doman Keele Syndrome 0
          Hashimoto-Pritzker Syndrome 0
          Haspeslagh Fryns Muelenaere Syndrome 0
          Hecht Scott Syndrome 0
          Hemorrhagic Shock and Encephalopathy Syndrome 0
          Hengel-Maroofian-Schols syndrome 1
          Hennekam syndrome + 3
          Hereditary Neoplastic Syndromes + 1481
          Hernandez Aguirre-Negrete Syndrome 0
          Hernandez Fragoso Syndrome 0
          Herrmann Syndrome 0
          Hersh Podruch Weisskopf Syndrome 0
          Hhhh Syndrome 0
          Hirata disease 0
          Hittner Hirsch Kreh Syndrome 4
          Ho Kaufman Mcalister Syndrome 0
          Holt-Oram syndrome + 3
          Holzgreve-Wagner-Rehder syndrome 0
          Hordnes Engebretsen Knudtson syndrome 0
          Horner's syndrome + 0
          Hoyeraal Hreidarsson Syndrome 6
          Humeroradial Multiple Synostosis Syndrome 0
          Hunt's Syndrome 0
          Hunter Carpenter Macdonald Syndrome 0
          Hunter-Macdonald Syndrome 0
          Hunter-McAlpine Syndrome 0
          Huntington's Disease-Like Syndrome 1
          Hyperimmunoglobulin G1(A1) Syndrome 0
          Hyperkeratosis-Hyperpigmentation Syndrome 0
          Hypospadias-Mental Retardation Syndrome 0
          Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 0
          IFAP Syndrome + 4
          IMAGe syndrome 1
          INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 1
          INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES 1
          IVIC syndrome 1
          Ichthyosis Cheek Eyebrow Syndrome 0
          Ichthyosis Prematurity Syndrome 1
          Iliotibial Band Syndrome 0
          Immune Reconstitution Inflammatory Syndrome 0
          Incomplete Sertoli Cell-Only Syndrome 0
          Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis 1
          Iridocorneal Endothelial Syndrome + 0
          Islet Cell Tumor Syndrome 9
          Isodicentric Chromosome 15 Syndrome 3
          Isotretinoin Embryopathy Like Syndrome 0
          Jaccoud's syndrome 0
          Jackson-Weiss syndrome 2
          Jaffer Beighton Syndrome 0
          Jagell Holmgren Hofer Syndrome 0
          Jalili syndrome 1
          Jet Lag Syndrome 0
          Johanson-Blizzard syndrome 1
          Johnson Munson Syndrome 0
          Johnston-Aarons-Schelley Syndrome 0
          Jones Hersh Yusk Syndrome 0
          Jones Syndrome 0
          Jorgenson Lenz Syndrome 0
          Juberg Hayward Syndrome 10
          Judge Misch Wright Syndrome 0
          Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous 1
          Jung Wolff Back Stahl Syndrome 0
          KBG syndrome 52
          KINSSHIP syndrome 1
          Kabuki syndrome + 35
          Kagami-Ogata syndrome 4
          Kahn-Kahn-Katsanis Syndrome 1
          Kahrizi syndrome 1
          Kaler Garrity Stern Syndrome 0
          Kallmann syndrome + 35
          Kantaputra Gorlin Syndrome 0
          Kaplan Plauchu Fitch Syndrome 0
          Kaplowitz Bodurtha syndrome 0
          Kapur Toriello Syndrome 1
          Karak Syndrome 1
          Karandikar Maria Kamble Syndrome 0
          Kasabach-Merritt Syndrome + 2
          Kashani Strom Utley Syndrome 0
          Kasznica Carlson Coppedge Syndrome 0
          Katsantoni Papadakou Lagoyanni Syndrome 0
          Kaufman oculocerebrofacial syndrome 1
          Kawasaki disease 30
          Kearns-Sayre syndrome 4
          Keipert syndrome 1
          Kennerknecht Sorgo Oberhoffer Syndrome 0
          Kenny-Caffey syndrome + 3
          Keppen-Lubinsky Syndrome 1
          Keratitis-Ichthyosis-Deafness Syndrome + 2
          Keutel Syndrome 1
          Kilquist Syndrome 1
          King Denborough syndrome 1
          Kleeblattschaedel Syndrome 0
          Kleefstra syndrome + 109
          Kleine-Levin syndrome 6
          Kleiner Holmes Syndrome 0
          Klinefelter syndrome 17
          Klippel-Feil syndrome + 54
          Klippel-Trenaunay syndrome 4
          Kluver-Bucy syndrome + 0
          Knobloch Syndrome + 4
          Kocher-Debre-Semelaigne Syndrome 0
          Kohlschutter-Tonz syndrome 22
          Konigsmark Knox Hussels Syndrome 0
          Koone Rizzo Elias Syndrome 0
          Kosaki Overgrowth Syndrome 1
          Kosztolanyi Syndrome 0
          Kotzot-Richter Syndrome 0
          Kousseff Nichols Syndrome 0
          Kowarski Syndrome 1
          Kozlowski Brown Hardwick Syndrome 0
          Kozlowski Ouvrier Syndrome 0
          Kozlowski Rafinski Klicharska Syndrome 0
          Kozlowski Tsuruta Taki Syndrome 0
          Kozlowski Warren Fisher Syndrome 0
          Kozlowski-Krajewska Syndrome 0
          Krasnow Qazi Syndrome 0
          Krauss Herman Holmes Syndrome 0
          Krieble Bixler Syndrome 0
          Kufor-Rakeb syndrome 1
          Kumar Levick Syndrome 0
          Kuster Majewski Hammerstein Syndrome 0
          Kuster Syndrome 0
          Kuzniecky Andermann Syndrome 0
          LADD syndrome + 3
          LONG-OLSEN-DISTELMAIER SYNDROME 1
          Lachiewicz Sibley Syndrome 0
          Lamb-Shaffer Syndrome 1
          Lambert Syndrome 0
          Lambotte Syndrome 0
          Landy Donnai Syndrome 0
          Laplane Fontaine Lagardere Syndrome 0
          Laron syndrome 2
          Larsen Syndromes + 16
          Laurence Prosser Rocker Syndrome 0
          Laurence-Moon syndrome 1
          Laurin-Sandrow syndrome 1
          Lazy Leukocyte Syndrome 1
          Le Marec Bracq Picaud Syndrome 0
          Leber plus disease + 2
          Leichtman Wood Rohn Syndrome 0
          Lelis Syndrome 0
          Lenz-Majewski hyperostotic dwarfism 1
          Leriche Syndrome 0
          Lesch-Nyhan syndrome + 2
          Levator Syndrome 0
          Liang-Wang Syndrome 1
          Liberfarb Syndrome 1
          Liddle syndrome + 4
          Limb-Mammary Syndrome 1
          Lopes Gorlin Syndrome 0
          Lopes-Maciel-Rodan Syndrome 1
          Lowry Maclean syndrome 0
          Lowry Wood Syndrome 1
          Lubani Al Saleh Teebi Syndrome 0
          Lubinsky Syndrome 0
          Lubs Syndrome 1
          Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome 2
          Luscan-Lumish Syndrome 4
          Lutembacher's syndrome 0
          Lutz Richner Landolt Syndrome 0
          Lymphedema, Cardiac Septal Defects, and Characteristic Facies 0
          Lynch Lee Murday syndrome 0
          Lyngstadaas Syndrome 0
          MASA syndrome 2
          MASS Syndrome 2
          MAST syndrome 1
          MEDNIK syndrome 1
          MEHMO syndrome 1
          MELAS syndrome + 6
          MEND syndrome 1
          MERRF Syndrome + 2
          MLS syndrome + 3
          MOMES Syndrome 0
          MORM Syndrome 1
          MacDermot Winter Syndrome 0
          MacKay Shek Carr Syndrome 0
          Maccario Mena Weir Syndrome 0
          Macleod Fraser syndrome 0
          Macrophage Activation Syndrome 3
          Maffucci syndrome 6
          Majeed Syndrome 6
          Malabsorption Syndromes + 215
          Malignant Carcinoid Syndrome + 0
          Mallory-Weiss Syndrome 0
          Mammary-Digital-Nail Syndrome 0
          Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 1
          Manouvrier Syndrome 0
          Manz Syndrome 0
          Marden-Walker Syndrome 1
          Marfan syndrome + 233
          Marfanoid Hypermobility Syndrome 9
          Marinesco-Sjogren syndrome 2
          Marles Greenberg Persaud Syndrome 1
          Maroteaux Fonfria Syndrome 0
          Marshall-Smith syndrome 7
          Marsili syndrome 3
          Martinez Monasterio Pinheiro Syndrome 0
          Martinez-Frias Syndrome 1
          Martsolf Syndrome + 19
          Massa Casaer Ceulemans Syndrome 0
          Masters-Allen syndrome 0
          Maternally Inherited Leigh Syndrome 0
          May-Thurner Syndrome 0
          Mayer-Rokitansky-Kuster-Hauser syndrome + 4
          McCune Albright syndrome 2
          McDonough Syndrome 0
          McKusick-Kaufman syndrome 3
          McPherson Clemens Syndrome 0
          McPherson Robertson Cammarano Syndrome 0
          Meacham Winn Culler Syndrome 1
          Meckel-Like Cerebrorenodigital Syndrome 0
          Medial Medullary Syndrome 0
          Medial Tibial Stress Syndrome 0
          Meester-Loeys syndrome 2
          Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome + 66
          Megarbane Jalkh Syndrome 0
          Megarbane Syndrome 0
          Mehes Syndrome 0
          Mehta Lewis Patton Syndrome 0
          Meier-Gorlin syndrome + 13
          Meige syndrome 0
          Meigs Syndrome 0
          Melanoma-Pancreatic Cancer Syndrome 1
          Melhem Fahl Syndrome 0
          Melkersson-Rosenthal syndrome 0
          Mengel Konigsmark Syndrome 0
          Menke-Hennekam Syndrome + 2
          Menkes disease + 9
          Merlob Grunebaum Reisner Syndrome 0
          Mesomelia-Synostoses Syndrome 0
          Metabolic Syndrome + 161
          Methionine Malabsorption Syndrome 0
          Meyenburg-Altherr-Uehlinger Syndrome 0
          Michels Caskey Syndrome 0
          Microcephaly Albinism Digital Anomalies Syndrome 0
          Microcephaly Deafness Syndrome 0
          Microcephaly and Chorioretinopathy + 5
          Microcephaly, Epilepsy, and Diabetes Syndrome + 20
          Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange + 463
          Microcephaly-Capillary Malformation Syndrome 1
          Miles-Carpenter syndrome + 2
          Milner Khallouf Gibson Syndrome 0
          Mirhosseini-Holmes-Walton Syndrome 0
          Mirizzi Syndrome 0
          Mitchell-Riley Syndrome 1
          Moebius syndrome + 19
          Mollica-Pavone-Antener Syndrome 0
          Moloney Syndrome 0
          Mononen-Karnes-Senac syndrome 0
          Morillo-Cucci Passarge Syndrome 0
          Mousa Al din Al Nassar Syndrome 0
          Mowat-Wilson syndrome 10
          Mucopolysaccharidosis-Plus Syndrome 1
          Muenke syndrome 1
          Mulchandani-Bhoj-Conlin syndrome 0
          Muller Barth Menger Syndrome 0
          Multisystemic Smooth Muscle Dysfunction Syndrome 2
          Mungan Syndrome 1
          Murine Acquired Immunodeficiency Syndrome 6
          Myoectodermal Gonadal Dysgenesis Syndrome 2
          Myopathy, Cataract, Hypogonadism Syndrome 0
          Naguib-Richieri-Costa Syndrome 0
          Nakajo Syndrome 1
          Nance-Horan syndrome 17
          Nasopalpebral Lipoma Coloboma Syndrome 1
          Nasu-Hakola disease 2
          Nathalie Syndrome 0
          Nelson syndrome 0
          Netherton syndrome 6
          Neuhauser Daly Magnelli Syndrome 0
          Neuhauser Eichner Opitz Syndrome 0
          Neuhauser Syndrome 0
          Neurocutaneous Syndromes + 361
          Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills 1
          Neurofaciodigitorenal Syndrome 0
          Neutropenic Enterocolitis 1
          Nguyen Syndrome 0
          Nicolaides-Baraitser syndrome 4
          Nicolau Syndrome 0
          Nievergelt Syndrome 0
          Nijmegen breakage syndrome + 7
          Nizon-Isidor Syndrome 3
          Noble Bass Sherman Syndrome 0
          Nodding Syndrome 0
          Non Ketotic Hyperglycinemia Syndrome 1
          Nonkeratan-Sulfate-Excreting Morquio Syndrome 0
          Noonan syndrome with multiple lentigines + 10
          Norman-Roberts syndrome 5
          Novak Syndrome 0
          O'Donnell-Luria-Rodan Syndrome 2
          Obesity Hypoventilation Syndrome 0
          Occipital Cortical Malformations 1
          Oculoauriculofrontonasal Syndrome 0
          Oculocerebrocutaneous Syndrome 0
          Oculodental Syndrome Rutherfurd Syndrome 0
          Oculopalatocerebral Syndrome 0
          Oculorenocerebellar Syndrome 0
          Odontoma Dysphagia Syndrome 0
          Odontotrichoungual-Digital-Palmar Syndrome 0
          Ogden syndrome 1
          Ohdo syndrome + 4
          Okur-Chung Neurodevelopmental Syndrome 1
          Oligodontia-Colorectal Cancer Syndrome 3
          Oliver Syndrome 0
          Oliver-McFarlane syndrome 1
          Ollier disease 6
          Omenn syndrome 4
          Onat Syndrome 0
          Opitz Reynolds Fitzgerald syndrome 0
          Opsoclonus-Myoclonus Syndrome + 3
          Optic Atrophy Spastic Paraplegia Syndrome 0
          Osebold Skeletal Dysplasia Osteolysis Syndrome 0
          Oslam syndrome 0
          Osteootohepatoenteric Syndrome 1
          Osteopenic Nonfracture Syndrome 0
          Otofacioosseous-Gonadal Syndrome 0
          Otoonychoperoneal Syndrome 0
          PAPA syndrome 47
          PARC Syndrome 0
          PHARC syndrome 1
          POEMS syndrome 0
          PORETTI-BOLTSHAUSER SYNDROME 1
          Paganini-Miozzo syndrome 1
          Pagon Stephan Syndrome 0
          Paine Syndrome 0
          Palant Cleft Palate Syndrome 0
          Pallister Killian Syndrome 0
          Pallister W Syndrome 0
          Pallister-Hall syndrome + 2
          Palmer Pagon Syndrome 0
          Pancoast tumor + 0
          Parana Hard Skin Syndrome 0
          Paraneoplastic Syndromes + 24
          Parkinson's disease 15 1
          Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome 1
          Partial Duplication 15q Syndrome 0
          Partial Trisomy 3q Syndrome 0
          Partington Anderson Syndrome 0
          Partington syndrome 1
          Pascual Castroviejo Syndrome 0
          Pashayan Syndrome 0
          Patau syndrome 0
          Patel Bixler Syndrome 0
          Patterson Pseudoleprechaunism Syndrome 0
          Patterson Stevenson Syndrome 3
          Pavone Fiumara Rizzo Syndrome 0
          Pearson syndrome 1
          Pellagra like Syndrome 0
          Pendred syndrome 7
          Penttinen-Aula Syndrome 1
          Perlman syndrome 45
          Perniola Krajewska Carnevale Syndrome 0
          Perrault syndrome + 11
          Perry syndrome 1
          Peters plus syndrome 2
          Petty Laxova Wiedemann Syndrome 0
          Pfeiffer Kapferer Syndrome 0
          Pfeiffer Mayer Syndrome 0
          Pfeiffer Palm Teller Syndrome 0
          Pfeiffer Rockelein Syndrome 0
          Pfeiffer Tietze Welte Syndrome 0
          Pheochromocytoma Islet Cell Tumor Syndrome 0
          Piepkorn Karp Hickok syndrome 0
          Pierpont syndrome 1
          Pilarowski-Bjornsson Syndrome 2
          Pilotto Syndrome 0
          Pinheiro Freire-Maia Miranda Syndrome 0
          Piriformis Muscle Syndrome + 0
          Pitt-Hopkins syndrome + 17
          Pituitary Stalk Interruption Syndrome 26
          Piussan Lenaerts Mathieu syndrome 0
          Plica syndrome 0
          Plummer-Vinson Syndrome 0
          Podder-Tolmie Syndrome 0
          Pointer Syndrome 0
          Poland syndrome 0
          Polydactyly Myopia Syndrome 0
          Polyendocrine-Polyneuropathy Syndrome 1
          Polyosteolysis-Hyperostosis Syndrome 0
          Porcine Postweaning Multisystemic Wasting Syndrome 1
          Porcine Reproductive and Respiratory Syndrome 2
          Post-Concussion Syndrome 0
          Posterior Leukoencephalopathy Syndrome 1
          Postpericardiotomy Syndrome 0
          Potter's syndrome 0
          Poult Enteritis Mortality Syndrome 0
          Powell Chandra Saal Syndrome 0
          Powell Venencie Gordon syndrome 0
          Prader-Willi syndrome + 18
          Prata Libéral Gonçalves Syndrome 0
          Pre-Excitation Syndromes + 53
          Preeyasombat Varavithya Syndrome 0
          Presumed Ocular Histoplasmosis Syndrome 1
          Prieto syndrome 1
          Primrose Syndrome 1
          Propofol Infusion Syndrome 0
          Pseudo-TORCH Syndrome + 3
          Pseudo-Zellweger Syndrome 2
          Pseudoaminopterin Syndrome 0
          Qazi Markouizos syndrome 0
          RASopathy + 338
          RHYNS Syndrome 1
          Radio-Renal Syndrome 0
          Rahman Syndrome 1
          Rajab Interstitial Lung Disease with Brain Calcifications + 2
          Rambaud Galian Syndrome 0
          Ramon Syndrome 0
          Ramos Arroyo Clark Syndrome 0
          Rapp-Hodgkin syndrome 1
          Rasmussen Johnsen Thomsen Syndrome 0
          Ray Peterson Scott Syndrome 0
          Reardon Hall Slaney syndrome 0
          Reardon Wilson Cavanagh Syndrome 0
          Recombinant Chromosome 8 Syndrome 0
          Refeeding Syndrome 0
          Reginato Schiapachasse Syndrome 0
          Renal Dysplasia - Limb Defects Syndrome 0
          Renal Nutcracker Syndrome 0
          Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 2
          Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 2
          Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome 1
          Retinohepatoendocrinologic Syndrome 0
          Rett syndrome + 36
          Revesz syndrome 2
          Reye syndrome 2
          Rh deficiency syndrome 3
          Rhizomelic Syndrome 0
          Richards-Rundle Syndrome 0
          Richieri Costa Da Silva Syndrome 0
          Richieri Costa Guion-Almeida Syndrome 0
          Richieri Costa Pereira Syndrome 1
          Richter's syndrome 0
          Riddle syndrome 1
          Ridges-off-the-end Syndrome 0
          Riley-Day syndrome + 1
          Ring Chromosome 4 Syndrome 0
          Roberts syndrome 1
          Robinow Sorauf Syndrome 1
          Robinow syndrome + 9
          Robinson Miller Bensimon Syndrome 0
          Roifman Syndrome 3
          Roifman-Chitayat Syndrome 2
          Rombo Syndrome 0
          Rommen Mueller Sybert Syndrome 0
          Rosenthal-Kloepfer Syndrome 0
          Rosselli-Gulienetti Syndrome 0
          Rothmund-Thomson syndrome + 2
          Rowley-Rosenberg Syndrome 0
          Roy Maroteaux Kremp Syndrome 0
          Rozin Hertz Goodman Syndrome 0
          Rubinstein Taybi like Syndrome 3
          Rud Syndrome 0
          Rudd Klimek Syndrome 0
          Rudiger Syndrome 0
          Ruijs-Aalfs syndrome 1
          Ruvalcaba Churesigaew Myhre Syndrome 0
          Ruvalcaba Syndrome 0
          Ruzicka Goerz Anton syndrome 0
          SADDAN 1
          SAPHO syndrome 5
          SCARF Syndrome 0
          SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME 1
          SHORT syndrome 1
          SPOAN syndrome 0
          SULEIMAN-EL-HATTAB SYNDROME 2
          SUNCT Syndrome 0
          Saal Bulas Syndrome 0
          Sackey Sakati Aur Syndrome 0
          Sacral Agenesis Syndrome 0
          Saito Kuba Tsuruta Syndrome 0
          Sakati-Nyhan syndrome 0
          Sammartino De Crecchio Syndrome 0
          Samson Gardner Syndrome 0
          Samson Viljoen Syndrome 0
          Sanderson Fraser Syndrome 0
          Sandestig-Stefanova syndrome 1
          Sandhaus Ben-Ami Syndrome 0
          Sandifer Syndrome 0
          Santos Mateus Leal Syndrome 0
          Santos Syndrome 0
          Sao Paulo MCA/MR Syndrome 0
          Satoyoshi Syndrome 0
          Say Field Coldwell Syndrome 0
          Say Meyer Syndrome 1
          Say Syndrome 0
          Say-Barber-Miller Syndrome 0
          Schaap Taylor Baraitser Syndrome 0
          Schaefer Stein Oshman Syndrome 0
          Scheie syndrome 2
          Schimke X-Linked Mental Retardation Syndrome 0
          Schinzel type phocomelia 1
          Schlegelberger Grote Syndrome 0
          Schmid-Fraccaro Syndrome 0
          Schofer Beetz Bohl Syndrome 0
          Scholte Syndrome 0
          Schrander-Stumpel Theunissen Hulsmans Syndrome 0
          Schuurs-Hoeijmakers syndrome 1
          Schwartz Cohen-Addad Lambert Syndrome 0
          Schwartz-Jampel syndrome 1 3
          Schwartz-Lelek Syndrome 3
          Schweitzer Kemink Graham Syndrome 0
          Scott syndrome 1
          Sd(a) POLYAGGLUTINATION SYNDROME 1
          Seaver Cassidy Syndrome 0
          Seckel syndrome + 15
          Second Metatarsal-Metacarpal Syndrome 0
          Seemanova Lesny Syndrome 0
          Seizures, Cortical Blindness, and Microcephaly Syndrome 1
          Selig Benacerraf Greene Syndrome 0
          Sener Syndrome 0
          Senior-Loken syndrome + 20
          Sensorineural Deafness and Migraine 0
          Seow Najjar Syndrome 0
          Seres-Santamaria Arimany Muniz Syndrome 0
          Serotonin Syndrome 1
          Sertoli cell-only syndrome + 4
          Sessile Serrated Polyposis Cancer Syndrome 1
          Shaheen Syndrome 1
          Shaken Baby Syndrome 0
          Shapiro Syndrome 0
          Sharma Kapoor Ramji Syndrome 0
          Shashi-Pena Syndrome 1
          Sheehan syndrome 0
          Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies + 2
          Short Stature-Obesity Syndrome 0
          Shprintzen Omphalocele Syndrome 0
          Shukla-Vernon syndrome 1
          Siegler Brewer Carey Syndrome 0
          Sifrim-Hitz-Weiss syndrome 2
          Silengo Lerone Pelizza Syndrome 0
          Sillence Syndrome 0
          Silver-Russell syndrome + 19
          Simian Acquired Immunodeficiency Syndrome 0
          Simosa Cranio Facial Syndrome 0
          Simpson-Golabi-Behmel syndrome type 1 4
          Simpson-Golabi-Behmel syndrome type 2 1
          Singh Chhaparwal Dhanda Syndrome 0
          Singleton Merten Syndrome + 2
          Sinus Tarsi Syndrome 0
          Sjogren-Larsson syndrome + 2
          Sjogren-Larsson-like Syndrome 0
          Sjögren-Mikulicz Syndrome 1
          Skraban-Deardorff Syndrome 2
          Slavotinek Pike Mills Hurst Syndrome 0
          Slit Ventricle Syndrome 0
          Slti Salem Syndrome 0
          Sly syndrome 2
          Small-For-Size Syndrome 3
          Smith-Kingsmore Syndrome 3
          Smith-Lemli-Opitz syndrome + 6
          Sneddon syndrome 2
          Sohval Soffer Syndrome 0
          Sonoda Syndrome 0
          Sotos syndrome + 68
          Spastic Paraplegia and Evans Syndrome 0
          Spranger Schinzel Myers Syndrome 0
          Stankiewicz-Isidor Syndrome 1
          Steel Syndrome 1
          Steinfeld Syndrome 0
          Stern Lubinsky Durrie Syndrome 0
          Stevens-Johnson syndrome 44
          Stewart Treves Syndrome 0
          Stickler syndrome + 13
          Stiff-Person syndrome 16
          Stocco Dos Santos type X-linked intellectual disability 16
          Stoelinga-de Koomen-Davis Syndrome 0
          Stolerman neurodevelopmental syndrome 1
          Stoll Alembik Dott Syndrome 0
          Stoll Levy Francfort Syndrome 0
          Storm Syndrome 0
          Stormorken syndrome 3
          Stratton-Parker Syndrome 0
          Stromme syndrome 1
          Structural Heart Defects and Renal Anomalies Syndrome 1
          Stuve-Wiedemann Syndrome + 6
          Sudden Unexpected Nocturnal Death Syndrome 29
          Summitt Syndrome 0
          Superior Vena Cava Syndrome 1
          Susac Syndrome 0
          Sweeney-Cox syndrome 1
          Sweet syndrome 3
          Syndactyly-Polydactyly-Earlobe Syndrome 0
          Systemic Inflammatory Response Syndrome + 376
          TANGO2-related metabolic encephalopathy and arrythmias 2
          THAUVIN-ROBINET-FAIVRE SYNDROME 1
          TORCH syndrome 0
          Tabatznik Syndrome 0
          Takenouchi-Kosaki Syndrome 1
          Tamari Goodman Syndrome 0
          Tang Hsi Ryu Syndrome 0
          Tatton-Brown-Rahman syndrome 67
          Taylor's syndrome 0
          Teebi Kaurah Syndrome 0
          Teebi Naguib Al Awadi syndrome 0
          Teebi Shaltout Syndrome 0
          Teebi hypertelorism syndrome + 3
          Tel Hashomer Camptodactyly Syndrome 0
          Telfer Sugar Jaeger Syndrome 0
          Temple syndrome 0
          Temple-Baraitser syndrome 1
          Temporomandibular Joint Dysfunction Syndrome 1
          Temtamy syndrome 66
          Tenorio Syndrome 1
          Tetraphocomelia-Thrombocytopenia Syndrome 0
          Thai Symphalangism Syndrome 0
          Thakker Donnai Syndrome 0
          Theodor Hertz Goodman Syndrome 0
          Thomas Jewett Raines Syndrome 0
          Thomas Syndrome 0
          Thompson Baraitser Syndrome 0
          Thoracic Dysplasia-Hydrocephalus Syndrome 0
          Thrombocytopenia Absent Ulnar Syndrome 0
          Thyrocerebral-Retinal Syndrome 0
          Tietz syndrome 1
          Tietze's syndrome 1
          Tn polyagglutination syndrome 1
          Tolchin-Le Caignec Syndrome 1
          Tollner Horst Manzke Syndrome 0
          Tolosa-Hunt syndrome + 0
          Tonoki Syndrome 0
          Townes-Brocks syndrome + 12
          Tranebjaerg Svejgaard syndrome 0
          Treacher Collins syndrome + 5
          Treft Sanborn Carey Syndrome 0
          Trichodental Syndrome 0
          Trichohepatoneurodevelopmental Syndrome 1
          Trichorhinophalangeal Syndrome + 60
          Triple X Syndrome 0
          Trisomy 18-Like Syndrome 0
          Trueb Burg Bottani Syndrome 0
          Tsukahara Syndrome 1
          Tucker Syndrome 0
          Tukel syndrome 0
          Tumor Lysis Syndrome 0
          Tumor Predisposition Syndrome + 14
          Tunglang Savage Bellman Syndrome 0
          Turner syndrome + 9
          UV-sensitive syndrome + 3
          Ulna Metaphyseal Dysplasia Syndrome 0
          Uncombable Hair Syndrome + 4
          Upton Young Syndrome 0
          Urban Schosser Spohn Syndrome 1
          Urioste Martinez-Frias Syndrome 0
          Uruguay faciocardiomusculoskeletal syndrome 1
          Usher syndrome + 67
          VACTERL association + 20
          VERVERI-BRADY SYNDROME 1
          Van Bogaert-Hozay Syndrome 0
          Van Den Bosch Syndrome 0
          Van Maldergem syndrome + 2
          Van den Ende-Gupta syndrome 1
          Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome 4
          Van der Woude syndrome + 6
          Vasquez Hurst Sotos Syndrome 0
          Velofacioskeletal Syndrome 0
          Verheij Syndrome 1
          Verloes Gillerot Fryns Syndrome 0
          Verloes Van Maldergem Marneffe Syndrome 0
          Verloove-Vanhorick Brubakk Syndrome 0
          Vici syndrome 19
          Viljoen Kallis Voges Syndrome 0
          Vissers-Bodmer syndrome 2
          Vogt-Koyanagi-Harada disease 6
          Vohwinkel syndrome 1
          Volcke Soekarman Syndrome 0
          WT Limb Blood Syndrome 0
          Waaler Aarskog Syndrome 0
          Waardenburg syndrome + 14
          Waisman syndrome 2
          Walbaum Titran Durieux Crepin Syndrome 0
          Walker Dyson Syndrome 0
          Walker-Warburg syndrome + 71
          Warburg micro syndrome + 4
          Warburton Anyane Yeboa Syndrome 1
          Warfarin Syndrome 0
          Warsaw breakage syndrome 1
          Wasting Syndrome + 4
          Waterhouse-Friderichsen syndrome + 0
          Weill-Marchesani syndrome + 6
          Weinstein Kliman Scully Syndrome 0
          Weismann Netter Syndrome 0
          Weissenbacher-Zweymuller syndrome + 46
          Wellesley Carmen French Syndrome 0
          Wells Syndrome 0
          Weyers Ulnar Ray/Oligodactyly Syndrome 0
          White Platelet Syndrome 0
          White-Sutton syndrome 3
          Whyte Murphy Fallon Sly syndrome 0
          Whyte Murphy Syndrome 0
          Widow's Peak Syndrome 0
          Wiedemann Grosse Dibbern Syndrome 0
          Wiedemann Oldigs Oppermann Syndrome 0
          Wilson-Turner syndrome 3
          Winchester syndrome 3
          Winship Viljoen Leary Syndrome 0
          Winter Harding Hyde Syndrome 0
          Winter Shortland Temple Syndrome 1
          Wissler-Fanconi syndrome 0
          Wittwer Syndrome 5
          Wolcott-Rallison syndrome 1
          Woodhouse-Sakati syndrome 2
          Woods Black Norbury Syndrome 0
          Woods Leversha Rogers Syndrome 0
          Worster-Drought Syndrome 1
          Worth syndrome 1
          Wright Dyck Syndrome 0
          Wyburn Mason's Syndrome 0
          X-linked intellectual disability-psychosis-macroorchidism syndrome 2
          X-linked retinitis pigmentosa and sinorespiratory infections 1
          Xia-Gibbs syndrome 1
          YAO SYNDROME 1
          YOU-HOOVER-FONG SYNDROME 2
          YUKSEL-VOGEL-BAUER SYNDROME 1
          Yemenite Deaf-Blind Hypopigmentation Syndrome 0
          Yoon-Bellen neurodevelopmental syndrome 1
          Young Hughes Syndrome 0
          Young Syndrome 1
          Yunis-Varon syndrome 2
          ZTTK syndrome 26
          Zadik Barak Levin Syndrome 0
          Zaki syndrome 1
          Zazam Sheriff Phillips Syndrome 0
          Zechi-Ceide Syndrome 0
          Zellweger syndrome + 122
          Zerres Rietschel Majewski Syndrome 0
          Zika virus congenital syndrome 0
          Zimmerman Laband Syndrome + 3
          Zori Stalker Williams Syndrome 0
          ablepharon macrostomia syndrome 1
          achalasia microcephaly syndrome 0
          acrocallosal syndrome + 5
          acrorenal syndrome + 0
          acute chest syndrome 4
          adult respiratory distress syndrome 87
          agenesis of corpus callosum, cardiac, ocular, and genital syndrome 1
          akinetic mutism 0
          alacrima, achalasia, and impaired intellectual development syndrome 50
          alopecia, neurologic defects, and endocrinopathy syndrome 1
          alopecia-mental retardation syndrome + 3
          alpha thalassemia-X-linked intellectual disability syndrome 9
          androgen insensitivity syndrome + 5
          ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 1
          anterior spinal artery syndrome 0
          antiphospholipid syndrome + 12
          antisynthetase syndrome 2
          aplasia of lacrimal and salivary glands 1
          apparent mineralocorticoid excess syndrome 2
          arterial tortuosity syndrome 6
          aseptic meningitis 2
          asphyxiating thoracic dystrophy + 240
          autosomal dominant congenital deafness with onychodystrophy 1
          autosomal recessive cutis laxa type III + 2
          basilar artery insufficiency + 0
          bilateral perisylvian polymicrogyria + 8
          blepharocheilodontic syndrome + 2
          blepharophimosis-impaired intellectual development syndrome 1
          blue drum syndrome + 0
          blue toe syndrome 0
          brachial plexus neuritis + 1
          brachycephaly, trichomegaly, and developmental delay 1
          brachydactyly-syndactyly syndrome 1
          brachyolmia-amelogenesis imperfecta syndrome 2
          branchiooculofacial syndrome 2
          branchiootorenal syndrome + 13
          breast implant illness 0
          burning mouth syndrome + 0
          camptodactyly-arthropathy-coxa vara-pericarditis syndrome 2
          camptodactyly-tall stature-scoliosis-hearing loss syndrome 1
          capillary leak syndrome + 3
          cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome + 4
          cerebellar atrophy, visual impairment, and psychomotor retardation 1
          cerebellar hyplasia/atrophy, epilepsy, and global developmental delay 1
          cerebellofaciodental syndrome 1
          cerebral creatine deficiency syndrome + 135
          cerebrocostomandibular syndrome 1
          chiasmal syndrome 0
          chondrodysplasia punctata + 10
          chondrodysplasia-pseudohermaphroditism syndrome 1
          chromosomal deletion syndrome + 1543
          chromosomal duplication syndrome + 1315
          chronic atrial and intestinal dysrhythmia 1
          chronic fatigue syndrome 12
          ciliopathy + 1028
          cleft lip-palate-ectodermal dysplasia syndrome 1
          cleft palate-lateral synechia syndrome 1
          cold-induced sweating syndrome + 3
          compartment syndrome + 1
          complex regional pain syndrome + 0
          congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 2
          congenital central hypoventilation syndrome + 10
          congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1
          congenital heart defects, hamartomas of tongue, and polysyndactyly 1
          congenital leptin deficiency 2
          congenital limbs-face contractures-hypotonia-developmental delay syndrome 1
          contractures, pterygia, and spondylocarpotarsal fusion syndrome + 10
          corneal dystrophy-perceptive deafness syndrome 1
          corpus callosum agenesis-abnormal genitalia syndrome 1
          craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome + 2
          craniofacial-deafness-hand syndrome 1
          craniofrontonasal syndrome 4
          craniolenticulosutural dysplasia 1
          craniosynostosis 2 1
          crescentic glomerulonephritis 13
          cystic fibrosis + 96
          deafness, dystonia, and cerebral hypomyelination 5
          deafness-dystonia-optic neuronopathy syndrome 2
          deafness-intellectual disability, Martin-Probst type syndrome 1
          dengue shock syndrome 0
          developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome 0
          dialysis disequilibrium syndrome 0
          diffuse infiltrative lymphocytosis syndrome 0
          dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 1
          diphthamide deficiency syndrome 1 1
          distal arthrogryposis type 7 2
          dominant optic atrophy plus syndrome 1
          dropped head syndrome 0
          dry eye syndrome + 90
          dysplastic nevus syndrome 5
          ectodermal dysplasia + 542
          electroclinical syndrome + 1521
          empty sella syndrome + 1
          encephalopathy due to defective mitochondrial and peroxisomal fission 1 4
          endocrine-cerebro-osteodysplasia syndrome 3
          enhanced S-cone syndrome 3
          epidermolysis bullosa simplex with muscular dystrophy 65
          euthyroid sick syndrome 1
          exfoliation syndrome 22
          facial hemiatrophy 0
          fetal akinesia deformation sequence syndrome + 74
          fetal alcohol syndrome 1
          fetal encasement syndrome 1
          fetal valproate syndrome 0
          fibrogenesis imperfecta ossium 0
          foveal hypoplasia 1 2
          fragile X syndrome + 12
          frontonasal dysplasia + 6
          geroderma osteodysplasticum 1
          glucose transporter type 1 deficiency syndrome + 14
          gray platelet syndrome + 3
          hand-foot-genital syndrome 2
          hantavirus pulmonary syndrome 0
          hemolytic-uremic syndrome + 50
          hepatic encephalopathy + 34
          hepatopulmonary syndrome 8
          hepatorenal syndrome 5
          hereditary alpha tryptasemia syndrome 0
          hereditary arterial and articular multiple calcification syndrome + 12
          hereditary fructose intolerance syndrome 11
          hereditary spastic paraplegia 11 10
          herpes zoster oticus 0
          high myopia-sensorineural deafness syndrome 1
          high pressure neurological syndrome 0
          histiocytosis-lymphadenopathy plus syndrome 1
          holoprosencephaly + 219
          hydrolethalus syndrome + 3
          hypereosinophilic syndrome + 25
          hyperferritinemia-cataract syndrome 2
          hyperinsulinism + 383
          hypermobility syndrome 0
          hypertelorism, microtia, facial clefting syndrome 0
          hypertension and brachydactyly syndrome 1
          hypogonadotropic hypogonadism 23 with or without anosmia 1
          hypoparathyroidism-retardation-dysmorphism syndrome 2
          hypophosphatasia + 4
          hypoplastic left heart syndrome + 15
          hypoplastic or aplastic tibia with polydactyly 2
          hypothyroidism + 333
          hypotonia, ataxia, and delayed development syndrome 1
          hypotrichosis-lymphedema-telangiectasia syndrome + 1
          hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 1
          ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 2
          immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 67
          inappropriate ADH syndrome + 2
          inclusion body myopathy with Paget disease of bone and frontotemporal dementia + 6
          infancy electroclinical syndrome + 119
          infantile liver failure syndrome + 5
          intellectual developmental disorder with cardiac arrhythmia 1
          intellectual developmental disorder with short stature and behavioral abnormalities 1
          intellectual disability and myopathy syndrome 1
          iridogoniodysgenesis syndrome + 2
          irritable bowel syndrome 19
          kwashiorkor 0
          lateral medullary syndrome + 1
          lateral meningocele syndrome 1
          lethal congenital contracture syndrome + 12
          locked-in syndrome 0
          long QT syndrome + 313
          loose anagen hair syndrome + 2
          lymphedema-distichiasis syndrome + 1
          macrocephaly-autism syndrome 2
          mandibulofacial dysostosis with alopecia 1
          mandibulofacial dysostosis, Guion-Almeida type 1
          meconium aspiration syndrome 4
          median arcuate ligament syndrome 0
          megacystis-microcolon-intestinal hypoperistalsis syndrome + 7
          melanoma and neural system tumor syndrome 1
          microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1
          microcephaly, growth deficiency, seizures, and brain malformations 1
          microcephaly-micromelia syndrome 1
          middle lobe syndrome 1
          midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 5
          mitochondrial DNA depletion syndrome 8A 6
          mixed connective tissue disease 7
          monofixation syndrome 0
          mosaic variegated aneuploidy syndrome + 57
          mulibrey nanism 6
          multicentric carpotarsal osteolysis syndrome 1
          multicentric reticulohistiocytosis 0
          multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly 1
          multiple chemical sensitivity 3
          multiple congenital anomalies-hypotonia-seizures syndrome + 33
          multiple epiphyseal dysplasia with myopia and deafness 1
          multiple mitochondrial dysfunctions syndrome + 20
          multiple synostoses syndrome + 4
          multiple system atrophy + 40
          myelodysplastic syndrome + 244
          myeloid leukemia associated with Down Syndrome 13
          myofascial pain syndrome + 3
          nail-patella syndrome + 4
          neonatal abstinence syndrome 6
          neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome 0
          nephrotic syndrome + 172
          nerve compression syndrome + 4
          neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 1
          neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities 19
          neurodevelopmental disorder with hypotonia and speech delay 1
          neurooculocardiogenitourinary syndrome 1
          oculoauricular syndrome 2
          oculocerebrorenal syndrome + 12
          oculocutaneous albinism + 91
          oculodentodigital dysplasia + 2
          ornithine translocase deficiency 1
          orofacial cleft + 156
          orofaciodigital syndrome + 32
          osteoporosis-pseudoglioma syndrome 1
          ovarian hyperstimulation syndrome 9
          overactive bladder syndrome 12
          palindromic rheumatism 0
          palmoplantar keratoderma-deafness syndrome 2
          palmoplantar keratoderma-esophageal carcinoma syndrome 1
          pancreatic hypoplasia-diabetes-congenital heart disease syndrome 1
          partial fetal alcohol syndrome 0
          patellofemoral pain syndrome 0
          peeling skin syndrome + 10
          periodic limb movement disorder 0
          persian gulf syndrome 1
          persistent Mullerian duct syndrome 2
          persistent fetal circulation syndrome 40
          pigment dispersion syndrome 2
          plasminogen deficiency type I 1
          polycystic ovary syndrome + 170
          polyhydramnios, megalencephaly, and symptomatic epilepsy 1
          post-cardiac arrest syndrome 0
          post-thrombotic syndrome 0
          postaxial acrofacial dysostosis 1
          postcholecystectomy syndrome 0
          postgastrectomy syndrome + 0
          postpoliomyelitis syndrome 0
          postural orthostatic tachycardia syndrome 0
          primary hypertrophic osteoarthropathy + 2
          primary immunodeficiency disease + 4086
          progeroid syndrome + 28
          progressive osseous heteroplasia 6
          proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 1
          proprotein convertase 1/3 deficiency 2
          proximal symphalangism + 6
          prune belly syndrome + 3
          pseudobulbar palsy + 0
          renal coloboma syndrome 3
          restless legs syndrome + 9
          ring chromosome 14 syndrome 0
          ring chromosome 20 syndrome 0
          salt and pepper syndrome 6
          scimitar syndrome + 8
          seasonal affective disorder 0
          septooptic dysplasia + 18
          severe acute respiratory syndrome 85
          short QT syndrome + 9
          short stature, hearing loss, retinitis pigmentosa, and distinctive facies 1
          shoulder impingement syndrome 0
          sick building syndrome 1
          sick sinus syndrome + 13
          spastic paraplegia with deafness 0
          spondylocarpotarsal synostosis syndrome 2
          spondylocostal dysostosis 1 4
          spondyloepimetaphyseal dysplasia, Strudwick type 4
          spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis 1
          stiff skin syndrome 1
          subclavian steal syndrome 0
          sudden infant death syndrome + 35
          superior mesenteric artery syndrome + 0
          supine hypotensive syndrome 0
          syndactyly-telecanthus-anogenital and renal malformations syndrome 2
          syndromic X-linked intellectual disability Abidi type 0
          syndromic X-linked intellectual disability Siderius type 1
          syndromic X-linked intellectual disability Turner type 4
          temtamy preaxial brachydactyly syndrome 1
          terminal osseous dysplasia 1
          tethered spinal cord syndrome 1
          tetraamelia syndrome + 1
          thiamine-responsive megaloblastic anemia syndrome 1
          thyroid hormone resistance syndrome + 4
          tooth and nail syndrome 9
          toxic encephalopathy + 204
          transient global amnesia 0
          trichodontoosseous syndrome 46
          trichohepatoenteric syndrome + 4
          trichothiodystrophy + 12
          trigeminal neuralgia 15
          triple-A syndrome 2
          ulnar-mammary syndrome 2
          urethral syndrome 0
          urofacial syndrome + 2
          uveal coloboma-cleft lip and palate-intellectual disability 1
          ventriculomegaly - cystic kidney disease 1
          vertebral anomalies and variable endocrine and T-cell dysfunction 1
          vertebral artery insufficiency + 0
          vertebral hypersegmentation and orofacial anomalies 1
          visceral heterotaxy + 119
          wrinkly skin syndrome 1
          xeroderma pigmentosum + 18
          yellow nail syndrome + 0
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