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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 16058
    syndrome 6996
      16Q24.3 Microdeletion Syndrome 31
      3-M syndrome + 3
      3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1
      3MC syndrome + 17
      47, XYY Syndrome 0
      49,XXXXX Syndrome 0
      5-Nucleotidase Syndrome 0
      7p2 Monosomy Syndrome 0
      ADULT syndrome 1
      ARC syndrome + 2
      AREDYLD Syndrome 0
      Aagenaes syndrome 0
      Aarskog syndrome + 2
      Aase Smith Syndrome 0
      Abderhalden-Kaufmann-Lignac Syndrome 0
      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 44
      Acute Radiation Syndrome 0
      Acute Retroviral Syndrome 0
      Adams Nance Syndrome 0
      Adams-Oliver syndrome + 23
      Adams-Stokes Syndrome 0
      Adducted Thumbs Syndrome + 2
      Adie syndrome 0
      Adrenogenital Syndrome + 24
      Aicardi syndrome 0
      Aicardi-Goutieres syndrome + 11
      Akaba Hayasaka Syndrome 0
      Akesson Syndrome 0
      Aksu von Stockhausen Syndrome 0
      Al Awadi Syndrome 1
      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
      Alacrima, Achalasia, and Mental Retardation Syndrome 1
      Alagille syndrome 5
      Alazami Syndrome 1
      Alazami-Yuan Syndrome 1
      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
      Allanson Pantzar McLeod Syndrome + 6
      Aloi Tomasini Isaia Syndrome 0
      Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 1
      Alpha-Thalassemia Myelodysplasia Syndrome 1
      Alport syndrome + 13
      Alsing Syndrome 0
      Alstrom syndrome 1
      Alves Castelo dos Santos Syndrome 0
      Ameloonychohypohidrotic Syndrome 0
      Amniotic Band Syndrome + 0
      Angelman syndrome 19
      Angelucci's syndrome 0
      Anophthalmia Plus Syndrome 0
      Ansell Bywaters Elderking Syndrome 0
      Anticholinergic Syndrome 0
      Antley-Bixler syndrome + 3
      Aortic Arch Syndromes + 5
      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 2
      Au-Kline Syndrome 1
      Aughton Syndrome 0
      Auriculocondylar Syndrome + 3
      Ausems Wittebol-Post Hennekam Syndrome 0
      Autonomic Dysreflexia 0
      Autosomal Dominant Compelling Helio Ophthalmic Outburst Syndrome 0
      Axenfeld-Rieger syndrome + 29
      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 1
      Bangstad Syndrome 0
      Banki Syndrome 0
      Banti's Syndrome 4
      Baraitser Rodeck Garner syndrome 0
      Baraitser-Winter syndrome + 2
      Barber-Say syndrome 1
      Bardet-Biedl syndrome + 43
      Barre-Lieou syndrome 0
      Bart-Pumphrey syndrome 1
      Barth syndrome + 4
      Bartter disease + 8
      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 1
      Beck-Fahrner Syndrome 1
      Becker Nevus Syndrome 0
      Beckwith-Wiedemann syndrome + 7
      Beemer Ertbruggen Syndrome 0
      Beemer-Langer syndrome 6
      Behcet's disease + 73
      Behr syndrome 1
      Behrens Baumann Dust Syndrome 0
      Bell's palsy 0
      Bellini Chiumello Rimoldi Syndrome 0
      Ben Ari Shuper Mimouni Syndrome 0
      Bent Bone Dysplasia Syndrome 1
      Berk-Tabatznik Syndrome 0
      Bernard-Soulier syndrome + 4
      Bhaskar Jagannathan Syndrome 0
      Birk-Barel syndrome 1
      Birk-Landau-Perez Syndrome 1
      Birt-Hogg-Dube syndrome 1
      Bjornstad syndrome 1
      Blau syndrome 1
      Bloom syndrome 11
      Blue Diaper Syndrome 0
      Blue Rubber Bleb Nevus Syndrome 1
      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 1
      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 1
      Branchiogenic-Deafness Syndrome 0
      Bresheck/Bresek Syndrome 0
      Brown-Sequard syndrome 0
      Brown-Vialetto-Van Laere syndrome + 29
      Bruck syndrome + 2
      Brugada syndrome + 67
      Brunner syndrome 1
      Brunoni Syndrome 0
      Budd-Chiari syndrome + 6
      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
      CHARGE syndrome 12
      CHILD syndrome 1
      CHITAYAT SYNDROME 1
      CHOPS Syndrome 1
      CHROMOSOME 2p16.3 DELETION SYNDROME 1
      CK syndrome 1
      CLAPO Syndrome 1
      CLOVES syndrome 1
      COACH syndrome 3
      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 1
      Cardiocranial Syndrome 0
      Cardiomyopathy Hypogonadism Collagenoma Syndrome 0
      Carnevale Hernandez Castillo Syndrome 0
      Carney complex + 3
      Carney-Stratakis syndrome 23
      Carpenter syndrome + 3
      Carrington Syndrome 3
      Cartilage Hair Hypoplasia Like Syndrome 0
      Cartwright Nelson Fryns Syndrome 0
      Cataract Microcornea Syndrome 2
      Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 0
      Catel Manzke Syndrome 2
      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
      Cerebellofaciodental Syndrome 1
      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 13q Deletion Syndrome + 71
      Chromosome 3 Duplication 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 1
      Chromosome Xq Duplication Syndrome 0
      Chudley-Mccullough syndrome 2
      Chudley-Rozdilsky Syndrome 0
      Circumvallate Placenta Syndrome 0
      Ciuffo Syndrome 0
      Clark-Baraitser syndrome 2
      Cleidorhizomelic Syndrome 0
      Cockayne syndrome + 12
      Coffin-Lowry syndrome 1
      Coffin-Siris syndrome + 12
      Cogan syndrome + 2
      Cohen syndrome 2
      Cohen-Gibson Syndrome 1
      Cole-Carpenter syndrome + 2
      Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 0
      Congenital Bone Marrow Failure Syndromes + 11
      Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 0
      Congenital Pain Insensitivity + 11
      Conn's syndrome 0
      Contiguous Abcd1/Dxs1375e Deletion Syndrome 1
      Corneal Cerebellar Syndrome 0
      Cornelia de Lange syndrome + 17
      Corneodermatoosseous Syndrome 0
      Coronary-Subclavian Steal Syndrome 0
      Cote Katsantoni Syndrome 0
      Cousin Syndrome 1
      Cowden-Like Syndrome 3
      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 2 1
      Craniosynostosis Mental Retardation Clefting Syndrome 0
      Cree Mental Retardation Syndrome 0
      Crigler-Najjar syndrome + 7
      Crome Syndrome 0
      Crouzon syndrome-acanthosis nigricans syndrome 1
      Crush Syndrome 1
      Cryopyrin-Associated Periodic Syndromes + 9
      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 56
      Cushing Syndrome + 11
      Cutis Laxa-Marfanoid Syndrome 0
      Cyprus Facial Neuromusculoskeletal Syndrome 0
      DK Phocomelia Syndrome 0
      DOORS syndrome 1
      Daentl Towsend Siegel Syndrome 0
      Dahlberg Borer Newcomer Syndrome 0
      Daish Hardman Lamont Syndrome 0
      Dandy-Walker syndrome + 19
      Daneman Davy Mancer Syndrome 0
      Davenport Donlan Syndrome 0
      Davis Lafer Syndrome 0
      De Hauwere Leroy Adriaenssens syndrome 0
      De Hauwere syndrome 0
      De Sanctis-Cacchione Syndrome 1
      Deafness Oligodontia Syndrome 0
      Deafness, with Smith-Magenis Syndrome 1
      Deafness-Craniofacial Syndrome 0
      Deafness-Hypogonadism Syndrome 0
      Deal Barratt Dillon Syndrome 0
      Dennis Fairhurst Moore Syndrome 0
      Denys-Drash syndrome 2
      Der Kaloustian Mcintosh Silver Syndrome 0
      Dermal Ridges, Nelson Syndrome 0
      Desanto-Shinawi Syndrome 1
      Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities 1
      Devriendt syndrome 0
      Dianzani Autoimmune Lymphoproliferative Syndrome 0
      Diarrhea prodrome + Hemolytic-Uremic Syndrome 0
      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
      Dropped Head Syndromes 0
      Drug Hypersensitivity Syndrome 3
      Duane retraction syndrome + 6
      Duane-radial ray syndrome 1
      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 1
      ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME 1
      EDICT Syndrome 1
      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 + 104
      Elliott Ludman Teebi Syndrome 0
      Ellis Yale Winter Syndrome 0
      Ellis-Van Creveld syndrome + 13
      Elsahy-Waters syndrome 1
      Emanuel Syndrome 0
      Epilepsy, Hearing Loss, and Mental Retardation Syndrome 1
      Evans' syndrome + 1
      FACES Syndrome 0
      FG syndrome + 7
      FLOTCH Syndrome 0
      Facio Thoraco Genital Syndrome 0
      Faciocardiomelic Syndrome 0
      Faciocardiorenal Syndrome 0
      Failed Back Surgery Syndrome 0
      Familial Antiphospholipid Syndrome 0
      Familial Cyclic Vomiting Syndrome 0
      Familial Hyperchylomicronemia Syndrome 1
      Fanconi syndrome + 9
      Fara Chlupackova Syndrome 0
      Faye-Petersen Ward Carey Syndrome 0
      Feigenbaum Bergeron Richardson Syndrome 0
      Feingold Trainer Syndrome 0
      Feingold syndrome + 1
      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 1
      Fine-Lubinsky Syndrome 0
      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
      Fowler Christmas Chapple Syndrome 0
      Franceschini Vardeu Guala syndrome 0
      Frank-Ter Haar syndrome 1
      Fraser Jequier Chen Syndrome 0
      Fraser syndrome + 19
      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 1
      Fryns Syndrome 0
      Fuchs' heterochromic uveitis 0
      Fuhrmann syndrome 1
      Furukawa Takagi Nakao Syndrome 0
      GABRIELE-DE VRIES SYNDROME 1
      GLUT1 Deficiency Syndrome 1
      GOMBO Syndrome 0
      GRACILE syndrome 1
      Galloway-Mowat syndrome + 9
      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 2
      Genoa Syndrome 0
      German Syndrome 0
      Gerstmann syndrome 0
      Ghose Sachdev Kumar Syndrome 0
      Giacheti Syndrome 0
      Gilles de la Tourette syndrome + 11
      Gillespie syndrome 1
      Gitelman syndrome 4
      Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 1
      Goldberg-Shprintzen syndrome 54
      Goldblatt Viljoen Syndrome 0
      Goldenhar syndrome + 1
      Goldstein Hutt Syndrome 0
      Gollop Coates Syndrome 0
      Goniodysgenesis-Mental Retardation-Short Stature Syndrome 0
      Good syndrome 0
      Goodpasture syndrome + 55
      Gorham's disease + 0
      Gorlin Bushkell Jensen Syndrome 0
      Gorlin Chaudhry Moss Syndrome 0
      Graham Boyle Troxell Syndrome 0
      Granddad Syndrome 0
      Grange Syndrome 0
      Grant Syndrome 0
      Green Sandford Davison Syndrome 0
      Greig cephalopolysyndactyly syndrome 1
      Groll Hirschowitz Syndrome 0
      Growth Hormone Insensitivity with Immune Dysregulation + 1
      Grubben de Cock Borghgraef Syndrome 0
      Guillain-Barre syndrome + 16
      Gurrieri Sammito Bellussi Syndrome 0
      Guttmacher syndrome 1
      HAIR-AN syndrome 0
      HEART AND BRAIN MALFORMATION SYNDROME 1
      HELIX syndrome 1
      HELLP syndrome 5
      HID Syndrome 1
      HIV Enteropathy 0
      HIV Wasting Syndrome 4
      HIV-Associated Lipodystrophy Syndrome 6
      HUPRA Syndrome 1
      HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 1
      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 1
      Halal Setton Wang Syndrome 0
      Halal Syndrome 0
      Hall Riggs Mental Retardation Syndrome 0
      Hallermann-Streiff syndrome + 0
      Hamamy Syndrome 1
      Hamanishi Ueba Tsuji Syndrome 0
      Hamano Tsukamoto Syndrome 0
      Hammer Toe Syndrome 6
      Hand-Arm Vibration Syndrome 0
      Hand-Foot Syndrome 1
      Hanhart Syndrome 0
      Hantavirus hemorrhagic fever with renal syndrome + 6
      Hapnes Boman Skeie Syndrome 0
      Hardikar Syndrome 0
      Harel-Yoon Syndrome 1
      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
      Hennekam syndrome + 3
      Hereditary Neoplastic Syndromes + 815
      Hereditary Paraganglioma-Pheochromocytoma Syndromes 8
      Hernandez Aguirre-Negrete Syndrome 0
      Hernandez Fragoso Syndrome 0
      Herrmann Syndrome 0
      Hersh Podruch Weisskopk Syndrome 0
      Hhhh Syndrome 0
      Hirata disease 0
      Hittner Hirsch Kreh Syndrome 1
      Ho Kaufman Mcalister Syndrome 0
      Holt-Oram syndrome 4
      Holzgreve-Wagner-Rehder syndrome 0
      Homozygous 11p15-p14 Deletion Syndrome 0
      Hordnes Engebretsen Knudtson syndrome 0
      Horner's syndrome + 0
      Hoyeraal Hreidarsson Syndrome 3
      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
      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
      Iida Kannari Syndrome 0
      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
      Irons Bhan Syndrome 0
      Islet Cell Tumor Syndrome 6
      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
      Jarcho-Levin Syndrome 3
      Jet Lag Syndrome 0
      Johanson-Blizzard syndrome 1
      Johnson Munson Syndrome 0
      Johnson Neuroectodermal Syndrome 0
      Johnston Aarons Schelley Syndrome 0
      Jones Hersh Yusk Syndrome 0
      Jones Syndrome 0
      Jorgenson Lenz Syndrome 0
      Juberg Hayward Syndrome 1
      Judge Misch Wright Syndrome 0
      Jung Wolff Back Stahl Syndrome 0
      KBG syndrome 3
      Kabuki syndrome + 19
      Kagami-Ogata syndrome 29
      Kahn-Kahn-Katsanis Syndrome 1
      Kahrizi syndrome 1
      Kaler Garrity Stern Syndrome 0
      Kallmann syndrome + 10
      Kantaputra Gorlin Syndrome 0
      Kaplan Plauchu Fitch Syndrome 0
      Kaplowitz Bodurtha syndrome 0
      Kapur Toriello Syndrome 0
      Karak Syndrome 1
      Karandikar Maria Kamble Syndrome 0
      Kasabach-Merritt Syndrome + 2
      Kashani Strom Utley Syndrome 0
      Kasznica Carlson Coppedge Syndrome 0
      Kat6a Syndrome 1
      Katsantoni Papadakou Lagoyanni Syndrome 0
      Kaufman oculocerebrofacial syndrome 1
      Kawasaki disease 32
      Kearns-Sayre syndrome 11
      Keipert syndrome 1
      Kennerknecht Sorgo Oberhoffer Syndrome 0
      Kennerknecht Vogel Syndrome 0
      Kenny-Caffey syndrome + 2
      Keppen-Lubinsky Syndrome 1
      Keratitis-Ichthyosis-Deafness Syndrome + 2
      Keutel Syndrome 1
      King Denborough Syndrome 1
      Kleeblattschaedel Syndrome 0
      Kleefstra syndrome + 76
      Kleine-Levin syndrome 0
      Kleiner Holmes Syndrome 0
      Klinefelter syndrome 0
      Klippel-Feil syndrome + 6
      Klippel-Trenaunay syndrome + 0
      Kluver-Bucy syndrome + 0
      Knobloch Syndrome 3
      Kocher-Debre-Semelaigne Syndrome 0
      Kohlschutter-Tonz syndrome 21
      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
      Lachiewicz Sibley Syndrome 0
      Ladda Zonana Ramer syndrome 0
      Lamb-Shaffer Syndrome 1
      Lambert Syndrome 0
      Lambotte Syndrome 0
      Landau-Kleffner syndrome 1
      Landy Donnai Syndrome 0
      Laplane Fontaine Lagardere Syndrome 0
      Laron syndrome 2
      Larsen Syndromes + 5
      Laryngo Onycho Cutaneous Syndrome 1
      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
      Legius Syndrome 3
      Leichtman Wood Rohn Syndrome 0
      Lelis Syndrome 0
      Lenz-Majewski hyperostotic dwarfism 1
      Leriche Syndrome 0
      Lesch-Nyhan syndrome + 2
      Levator Syndrome 0
      Li-Fraumeni syndrome + 31
      Liang-Wang Syndrome 1
      Liberfarb Syndrome 1
      Liddle syndrome + 4
      Light Fixation Seizure Syndrome 0
      Limb-Mammary Syndrome 1
      Lopes Gorlin Syndrome 0
      Lopes-Maciel-Rodan Syndrome 1
      Loucks-Innes Syndrome 1
      Lowry Maclean syndrome 0
      Lowry Wood Syndrome 1
      Lubani Al Saleh Teebi Syndrome 0
      Lubinsky Syndrome 0
      Lubs Syndrome 0
      Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome 2
      Luscan-Lumish syndrome 1
      Lutembacher's syndrome 0
      Lutz Richner Landolt Syndrome 0
      Lynch Lee Murday syndrome 0
      Lynch syndrome + 35
      Lyngstadaas Syndrome 0
      Lysine Malabsorption Syndrome 0
      MASA syndrome 1
      MASS Syndrome 1
      MAST syndrome 1
      MECP2 duplication syndrome 1
      MEDNIK syndrome 1
      MEHMO syndrome 1
      MELAS syndrome + 17
      MEND syndrome 1
      MERRF Syndrome + 3
      MERRF/MELAS Overlap Syndrome 0
      MLS syndrome + 3
      MOMES Syndrome 0
      MORM Syndrome 1
      MUCOPOLYSACCHARIDOSIS-PLUS 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 0
      Majeed Syndrome 1
      Malabsorption Syndromes + 119
      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 + 209
      Marfanoid Hypermobility Syndrome 8
      Marinesco-Sjogren syndrome 1
      Marles Greenberg Persaud Syndrome 1
      Maroteaux Fonfria Syndrome 0
      Marshall-Smith syndrome 6
      Martinez Monasterio Pinheiro Syndrome 0
      Martinez-Frias Syndrome 0
      Martsolf syndrome 2
      Massa Casaer Ceulemans Syndrome 0
      Masters-Allen syndrome 0
      Maternally Inherited Leigh Syndrome 2
      Mauriac Syndrome 1
      May-Thurner Syndrome 0
      McCune Albright syndrome 2
      McDonough Syndrome 0
      McKusick-Kaufman syndrome 1
      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 + 9
      Megarbane Jalkh Syndrome 0
      Megarbane Syndrome 0
      Mehes Syndrome 0
      Mehta Lewis Patton Syndrome 0
      Meier-Gorlin syndrome + 10
      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 + 3
      Merlob Grunebaum Reisner Syndrome 0
      Mesomelia-Synostoses Syndrome 0
      Metabolic Syndrome + 324
      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 + 4
      Microcephaly, Epilepsy, and Diabetes Syndrome 1
      Microcephaly-Capillary Malformation Syndrome 1
      Microcephaly-Micromelia Syndrome 1
      Miles-Carpenter syndrome + 2
      Milner Khallouf Gibson Syndrome 0
      Mirhosseini-Holmes-Walton Syndrome 0
      Mirizzi Syndrome 0
      Mitchell-Riley Syndrome 1
      Mobius syndrome + 16
      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 9
      Muenke syndrome 1
      Muir-Torre syndrome 3
      Mulchandani-Bhoj-Conlin syndrome 0
      Muller Barth Menger Syndrome 0
      Multisystemic Smooth Muscle Dysfunction Syndrome 2
      Mungan Syndrome 1
      Murine Acquired Immunodeficiency Syndrome 3
      Myopathy, Cataract, Hypogonadism Syndrome 0
      N syndrome 0
      NF1 Microduplication Syndrome 0
      Naguib-Richieri-Costa Syndrome 0
      Nakajo Syndrome 0
      Nance-Horan syndrome 1
      Nasopalpebral Lipoma Coloboma Syndrome 1
      Nasu-Hakola disease 2
      Nathalie Syndrome 0
      Nelson syndrome 0
      Nestor-Guillermo Progeria Syndrome 2
      Netherton syndrome 3
      Neuhauser Daly Magnelli Syndrome 0
      Neuhauser Eichner Opitz Syndrome 0
      Neuhauser Syndrome 0
      Neurocutaneous Syndromes + 151
      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 + 3
      Nisch syndrome 2
      Nizon-Isidor Syndrome 2
      Noble Bass Sherman Syndrome 0
      Nodding Syndrome 0
      Non Ketotic Hyperglycinemia Syndrome 0
      Nonkeratan-Sulfate-Excreting Morquio Syndrome 0
      Noonan syndrome with multiple lentigines + 9
      Norman-Roberts syndrome 1
      Novak Syndrome 0
      O'Donnell Pappas Syndrome 2
      O'Donnell-Luria-Rodan Syndrome 1
      OI/EDS Combined Syndrome 1
      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 + 3
      Okur-Chung Neurodevelopmental Syndrome 1
      Oligodontia-Colorectal Cancer Syndrome 3
      Oliver Syndrome 0
      Oliver-McFarlane syndrome 1
      Ollier disease 4
      Omenn syndrome 3
      Onat Syndrome 0
      Opitz Reynolds Fitzgerald syndrome 0
      Opitz-GBBB syndrome + 2
      Opsoclonus-Myoclonus Syndrome + 1
      Optic Atrophy Spastic Paraplegia Syndrome 0
      Osebold Skeletal Dysplasia Osteolysis Syndrome 0
      Oslam syndrome 0
      Osteopenic Nonfracture Syndrome 0
      Otofacioosseous-Gonadal Syndrome 0
      Otoonychoperoneal Syndrome 0
      PAPA syndrome 2
      PARC Syndrome 0
      PFAPA Syndrome 1
      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 2
      Pavone Fiumara Rizzo Syndrome 0
      Pearson syndrome 8
      Pellagra like Syndrome 0
      Pendred syndrome 3
      Penttinen-Aula Syndrome 1
      Perisylvian Syndrome + 3
      Perlman syndrome 2
      Perniola Krajewska Carnevale Syndrome 0
      Perrault syndrome + 7
      Perry syndrome 1
      Peters plus syndrome 2
      Petty Laxova Wiedemann Syndrome 0
      Peutz-Jeghers syndrome 18
      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 1
      Pilotto Syndrome 0
      Pinheiro Freire-Maia Miranda Syndrome 0
      Piriformis Muscle Syndrome + 0
      Pitt-Hopkins syndrome + 6
      Pituitary Stalk Interruption Syndrome 5
      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 1
      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
      Ppm-X Syndrome 0
      Prader-Willi syndrome + 17
      Prata Libéral Gonçalves Syndrome 0
      Pre-Excitation Syndromes + 53
      Preeyasombat Varavithya Syndrome 0
      Premature Ovarian Failure 10 1
      Presumed Ocular Histoplasmosis Syndrome 0
      Prieto syndrome 0
      Primrose Syndrome 1
      Propofol Infusion Syndrome 1
      Proteasome-Associated Autoinflammatory Syndromes + 5
      Proud Syndrome 1
      Pseudo-TORCH Syndrome + 3
      Pseudo-Zellweger Syndrome 1
      Pseudoaminopterin Syndrome 0
      Qazi Markouizos syndrome 0
      RASopathy + 75
      RHYNS Syndrome 1
      Radio Renal Syndrome 0
      Rahman Syndrome 1
      Raine 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 1
      Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 1
      Retinohepatoendocrinologic Syndrome 0
      Rett syndrome + 19
      Revesz syndrome 2
      Reye syndrome 2
      Reynolds Syndrome 1
      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 14 Syndrome 0
      Ring Chromosome 20 Syndrome 0
      Ring Chromosome 4 Syndrome 0
      Roberts syndrome 1
      Robinow Sorauf Syndrome 1
      Robinow syndrome + 8
      Robinson Miller Bensimon Syndrome 0
      Roifman Syndrome 1
      Roifman-Chitayat Syndrome 0
      Rombo Syndrome 0
      Rommen Mueller Sybert Syndrome 0
      Rosenthal-Kloepfer Syndrome 0
      Rosselli-Gulienetti Syndrome 0
      Rothmund-Thomson syndrome + 3
      Rowley-Rosenberg Syndrome 0
      Roy Maroteaux Kremp Syndrome 0
      Rozin Hertz Goodman Syndrome 0
      Rubinstein Taybi like Syndrome 0
      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
      SHASHI-PENA SYNDROME 1
      SHORT syndrome 1
      SIFRIM-HITZ-WEISS SYNDROME 1
      SPOAN syndrome 1
      STANKIEWICZ-ISIDOR SYNDROME 1
      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
      Salcedo 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
      Saul Wilkes Stevenson syndrome 0
      Say Barber Miller Syndrome 0
      Say Field Coldwell syndrome 0
      Say Meyer Syndrome 1
      Say Syndrome 0
      Schaap Taylor Baraitser Syndrome 0
      Schaefer Stein Oshman Syndrome 0
      Scheie syndrome 2
      Schimke X-Linked Mental Retardation Syndrome 0
      Schinzel-Giedion Syndrome 1
      Schlegelberger Grote Syndrome 0
      Schmid-Fraccaro Syndrome 0
      Schnitzler syndrome 2
      Schofer Beetz Bohl Syndrome 0
      Scholte Syndrome 0
      Schopf-Schulz-Passarge syndrome 1
      Schrander-Stumpel Theunissen Hulsmans Syndrome 0
      Schuurs-Hoeijmakers syndrome 1
      Schwartz Cohen-Addad Lambert Syndrome 0
      Schwartz-Jampel syndrome 1 2
      Schwartz-Lelek Syndrome 1
      Schweitzer Kemink Graham Syndrome 0
      Scott syndrome 1
      Seaver Cassidy Syndrome 0
      Seckel syndrome + 11
      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 + 14
      Sensorineural Deafness and Migraine 0
      Seow Najjar Syndrome 0
      Seres-Santamaria Arimany Muniz Syndrome 0
      Serotonin Syndrome 1
      Sertoli cell-only syndrome + 3
      Sessile Serrated Polyposis Cancer Syndrome 1
      Sezary's disease 26
      Shaheen Syndrome 1
      Shaken Baby Syndrome 0
      Shapiro Syndrome 0
      Sharma Kapoor Ramji Syndrome 0
      Sheehan syndrome 0
      Short Stature-Obesity Syndrome 0
      Shprintzen Omphalocele Syndrome 0
      Shukla-Vernon syndrome 1
      Siegler Brewer Carey Syndrome 0
      Silengo Lerone Pelizza Syndrome 0
      Sillence Syndrome 0
      Silver-Russell syndrome + 7
      Simian Acquired Immunodeficiency Syndrome 0
      Simosa Cranio Facial Syndrome 0
      Simpson-Golabi-Behmel syndrome type 1 3
      Simpson-Golabi-Behmel syndrome type 2 1
      Singh Chhaparwal Dhanda Syndrome 0
      Singleton Merten Syndrome + 2
      Sinus Tarsi Syndrome 0
      Sjogren's syndrome + 68
      Sjogren-Larsson syndrome + 1
      Sjogren-Larsson-like Syndrome 0
      Sjögren-Mikulicz Syndrome 1
      Skin Fragility-Woolly Hair Syndrome 1
      Skraban-Deardorff Syndrome 1
      Slavotinek Pike Mills Hurst Syndrome 0
      Slit Ventricle Syndrome 0
      Slti Salem Syndrome 0
      Sly syndrome 1
      Small-For-Size Syndrome 3
      Smith-Kingsmore Syndrome 1
      Smith-Lemli-Opitz syndrome + 3
      Sneddon syndrome 0
      Sohval Soffer Syndrome 0
      Sonoda Syndrome 0
      Sotos syndrome + 4
      Spastic Paraplegia and Evans Syndrome 0
      Spastic Paraplegia with Kallmann Syndrome 0
      Spranger Schinzel Myers Syndrome 0
      Steel Syndrome 1
      Steinfeld Syndrome 0
      Stern Lubinsky Durrie Syndrome 0
      Stevens-Johnson syndrome 32
      Stevenson-Carey Syndrome 0
      Stewart Treves Syndrome 0
      Stickler syndrome + 6
      Stiff-Person syndrome 6
      Stocco dos Santos Syndrome 1
      Stoelinga de Koomen Davis Syndrome 0
      Stoll Alembik Dott Syndrome 0
      Stoll Levy Francfort Syndrome 0
      Storm Syndrome 0
      Stormorken syndrome 1
      Stratton-Parker Syndrome 0
      Stromme syndrome 1
      Structural Heart Defects and Renal Anomalies Syndrome 1
      Stuve-Wiedemann Syndrome 3
      Sudden Unexpected Nocturnal Death Syndrome 19
      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 + 342
      THAUVIN-ROBINET-FAIVRE SYNDROME 1
      Tabatznik Syndrome 0
      Takao VCF Syndrome 1
      Takenouchi-Kosaki Syndrome 1
      Tamari Goodman Syndrome 0
      Tang Hsi Ryu Syndrome 0
      Tatton-Brown-Rahman Syndrome 2
      Taylor's syndrome 0
      Teebi Kaurah Syndrome 0
      Teebi Naguib Al Awadi syndrome 0
      Teebi Shaltout Syndrome 0
      Teebi Syndrome 0
      Tel Hashomer Camptodactyly Syndrome 0
      Telfer Sugar Jaeger Syndrome 0
      Temple syndrome 0
      Temple-Baraitser syndrome 1
      Temporomandibular Joint Dysfunction Syndrome 1
      Temtamy syndrome 39
      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 + 2
      Tranebjaerg Svejgaard syndrome 0
      Treacher Collins syndrome + 5
      Treft Sanborn Carey Syndrome 0
      Trichodental Syndrome 0
      Trichohepatoneurodevelopmental Syndrome 1
      Trichorhinophalangeal Syndrome + 59
      Triple X Syndrome 0
      Trisomy 18-Like Syndrome 0
      Trisomy 22 Mosaicism Syndrome 0
      Trueb Burg Bottani Syndrome 0
      Tsukahara Syndrome 1
      Tucker Syndrome 0
      Tukel Syndrome 0
      Tumor Lysis Syndrome 0
      Tumor Predisposition Syndrome 6
      Tunglang Savage Bellman Syndrome 0
      Turcot Syndrome 5
      Turner syndrome + 8
      UV-sensitive syndrome + 3
      Ulna Metaphyseal Dysplasia Syndrome 0
      Ulnar Nerve Compression Syndromes + 0
      Uncombable Hair Syndrome + 3
      Upton Young Syndrome 0
      Urban Schosser Spohn Syndrome 0
      Urioste Martinez-Frias Syndrome 0
      Uruguay Faciocardiomusculoskeletal Syndrome 1
      Usher syndrome + 45
      VACTERL association + 17
      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 2
      Van der Woude syndrome + 4
      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 1
      Viljoen Kallis Voges Syndrome 0
      Vogt-Koyanagi-Harada disease 7
      Vohwinkel syndrome 1
      Volcke Soekarman Syndrome 0
      WT Limb Blood Syndrome 0
      Waaler Aarskog Syndrome 0
      Waardenburg's syndrome + 12
      Waisman syndrome 1
      Walbaum Titran Durieux Crepin Syndrome 0
      Walker Dyson Syndrome 0
      Walker-Warburg syndrome + 33
      Warburg micro syndrome + 5
      Warburton Anyane Yeboa Syndrome 0
      Warfarin Syndrome 0
      Warsaw breakage syndrome 1
      Wasting Syndrome + 5
      Waterhouse-Friderichsen syndrome + 0
      Weaver syndrome 3
      Weill-Marchesani syndrome + 5
      Weinstein Kliman Scully Syndrome 0
      Weismann Netter Syndrome 0
      Weissenbacher-Zweymuller syndrome + 48
      Wellesley Carmen French Syndrome 0
      Wells Jankovic Syndrome 0
      Wells Syndrome 0
      Werner syndrome + 4
      Wernicke-Korsakoff 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
      Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome 0
      Wilson-Turner syndrome 2
      Winchester syndrome 1
      Winship Viljoen Leary Syndrome 0
      Winter Harding Hyde Syndrome 0
      Winter Shortland Temple Syndrome 1
      Wissler-Fanconi syndrome 0
      Wittwer Syndrome 1
      Wolcott-Rallison syndrome 1
      Wolfram syndrome + 4
      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
      Wrinkly Skin Syndrome 1
      Wyburn Mason's Syndrome 0
      Xia-Gibbs syndrome 1
      YOU-HOOVER-FONG SYNDROME 1
      Yemenite Deaf-Blind Hypopigmentation Syndrome 0
      Yorifuji Okuno Syndrome 0
      Young Hughes Syndrome 0
      Young Syndrome 1
      Yunis-Varon syndrome 2
      ZTTK Syndrome 1
      Zadik Barak Levin Syndrome 0
      Zazam Sheriff Phillips Syndrome 0
      Zechi-Ceide Syndrome 0
      Zellweger syndrome + 25
      Zerres Rietschel Majewski Syndrome 0
      Zika virus congenital syndrome 0
      Zimmerman Laband Syndrome + 3
      Zori Stalker Williams Syndrome 0
      Zunich Neuroectodermal Syndrome 1
      ablepharon macrostomia syndrome 1
      achalasia microcephaly syndrome 0
      acrocallosal syndrome + 5
      acrorenal syndrome + 0
      acute chest syndrome 6
      adult respiratory distress syndrome 107
      akinetic mutism 0
      alopecia-mental retardation syndrome + 2
      alpha thalassemia-X-linked intellectual disability syndrome 2
      androgen insensitivity syndrome + 4
      ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 1
      anterior spinal artery syndrome 0
      antiphospholipid syndrome + 10
      antisynthetase syndrome 1
      aplasia of lacrimal and salivary glands 1
      apparent mineralocorticoid excess syndrome 2
      arterial tortuosity syndrome 4
      aseptic meningitis 2
      asphyxiating thoracic dystrophy + 42
      autosomal dominant congenital deafness with onychodystrophy 1
      autosomal recessive cutis laxa type III + 2
      basilar artery insufficiency + 0
      blepharocheilodontic syndrome + 2
      blepharophimosis, ptosis, and epicanthus inversus syndrome 3
      blue drum syndrome + 0
      blue toe syndrome 0
      brachial plexus neuritis + 1
      brachydactyly-syndactyly syndrome 1
      brachyolmia-amelogenesis imperfecta syndrome 1
      branchiooculofacial syndrome 1
      branchiootorenal syndrome + 5
      burning mouth syndrome + 0
      camptodactyly-arthropathy-coxa vara-pericarditis syndrome 2
      camptodactyly-tall stature-scoliosis-hearing loss syndrome 1
      capillary leak syndrome + 1
      cerebellar ataxia, mental retardation and dysequlibrium syndrome + 4
      cerebellar hyplasia/atrophy, epilepsy, and global developmental delay 1
      cerebral creatine deficiency syndrome + 54
      cerebrocostomandibular syndrome 1
      chiasmal syndrome 0
      chondrodysplasia punctata + 7
      chondrodysplasia-pseudohermaphroditism syndrome 1
      chromosomal deletion syndrome + 868
      chromosomal duplication syndrome + 740
      chronic atrial and intestinal dysrhythmia 1
      chronic fatigue syndrome 12
      ciliopathy + 227
      cleft lip-palate-ectodermal dysplasia syndrome 1
      cleft palate, cardiac defects, and intellectual disabillity 1
      cleft palate-lateral synechia syndrome 1
      cold-induced sweating syndrome + 3
      compartment syndrome + 1
      complex regional pain syndrome + 0
      congenital central hypoventilation syndrome 8
      congenital leptin deficiency 1
      corneal dystrophy-perceptive deafness syndrome 1
      craniofacial-deafness-hand syndrome 1
      craniofrontonasal syndrome 4
      craniolenticulosutural dysplasia 1
      crescentic glomerulonephritis 15
      cystic fibrosis + 100
      deafness-dystonia-optic neuronopathy syndrome 1
      deafness-intellectual disability, Martin-Probst type syndrome 0
      dengue shock syndrome 0
      diffuse infiltrative lymphocytosis syndrome 0
      dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 1
      distal arthrogryposis type 7 2
      dominant optic atrophy plus syndrome 1
      dry eye syndrome + 85
      dysplastic nevus syndrome + 2
      ectodermal dysplasia + 250
      electroclinical syndrome + 396
      empty sella syndrome + 1
      encephalopathy due to defective mitochondrial and peroxisomal fission 1 4
      endocrine-cerebro-osteodysplasia syndrome 1
      enhanced S-cone syndrome 3
      epidermolysis bullosa simplex with muscular dystrophy 28
      euthyroid sick syndrome 1
      exfoliation syndrome 21
      facial hemiatrophy 0
      fetal akinesia deformation sequence syndrome + 43
      fetal alcohol syndrome 1
      fetal encasement syndrome 1
      fetal valproate syndrome 0
      fibrogenesis imperfecta ossium 0
      focal dermal hypoplasia + 5
      fragile X syndrome + 15
      geroderma osteodysplasticum 1
      gray platelet syndrome + 3
      hand-foot-genital syndrome 1
      hantavirus pulmonary syndrome 0
      hemolytic-uremic syndrome + 30
      hepatic encephalopathy + 34
      hepatopulmonary syndrome 8
      hepatorenal syndrome 5
      hereditary alpha tryptasemia syndrome 0
      hereditary arterial and articular multiple calcification syndrome + 10
      hereditary breast ovarian cancer syndrome 48
      hereditary desmoid disease 2
      hereditary fructose intolerance syndrome 5
      hereditary spastic paraplegia 11 18
      herpes zoster oticus 0
      high myopia-sensorineural deafness syndrome 1
      high pressure neurological syndrome 0
      histiocytosis-lymphadenopathy plus syndrome 1
      holoprosencephaly + 34
      hydrolethalus syndrome + 3
      hypereosinophilic syndrome + 27
      hyperferritinemia-cataract syndrome 2
      hyperinsulinism + 559
      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 + 2
      hypoplastic left heart syndrome + 13
      hypoplastic or aplastic tibia with polydactyly 2
      hypothyroidism + 155
      hypotrichosis-lymphedema-telangiectasia syndrome + 2
      hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 2
      ichthyosis follicularis-alopecia-photophobia syndrome 1 2
      immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 2
      immunodeficiency-centromeric instability-facial anomalies syndrome + 10
      inappropriate ADH syndrome + 2
      inclusion body myopathy with Paget disease of bone and frontotemporal dementia + 5
      infancy electroclinical syndrome + 38
      infantile liver failure syndrome + 4
      intellectual developmental disorder with short stature and behavioral abnormalities 1
      iridogoniodysgenesis syndrome + 2
      irritable bowel syndrome 14
      juvenile polyposis syndrome + 14
      kwashiorkor 0
      lateral medullary syndrome + 1
      lateral meningocele syndrome 1
      lethal congenital contracture syndrome + 12
      locked-in syndrome 0
      long QT syndrome + 251
      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 3
      melanoma and neural system tumor syndrome 1
      microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1
      middle lobe syndrome 1
      midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 3
      mitochondrial DNA depletion syndrome 8A 5
      mixed connective tissue disease 8
      monofixation syndrome 0
      mosaic variegated aneuploidy syndrome + 3
      mulibrey nanism 4
      multicentric carpotarsal osteolysis syndrome 1
      multicentric reticulohistiocytosis 0
      multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly 1
      multiple chemical sensitivity 1
      multiple congenital anomalies-hypotonia-seizures syndrome + 5
      multiple epiphyseal dysplasia with myopia and deafness 1
      multiple mitochondrial dysfunctions syndrome + 6
      multiple pterygium syndrome + 4
      multiple synostoses syndrome + 4
      multiple system atrophy + 29
      myelodysplastic syndrome + 111
      myeloid leukemia associated with Down Syndrome 9
      myofascial pain syndrome + 3
      nail-patella syndrome + 2
      neonatal abstinence syndrome 0
      nephrotic syndrome + 116
      nerve compression syndrome + 3
      neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 1
      neurooculocardiogenitourinary syndrome 1
      oculoauricular syndrome 2
      oculocerebrorenal syndrome + 8
      oculocutaneous albinism + 36
      oculodentodigital dysplasia + 1
      ornithine translocase deficiency 2
      orofacial cleft + 125
      orofaciodigital syndrome + 16
      osteoporosis-pseudoglioma syndrome 1
      otulipenia 1
      ovarian hyperstimulation syndrome 7
      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 + 8
      periodic limb movement disorder 0
      persian gulf syndrome 1
      persistent Mullerian duct syndrome 2
      persistent fetal circulation syndrome 32
      pigment dispersion syndrome 2
      plasminogen deficiency type I 1
      popliteal pterygium syndrome + 2
      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 1
      primary hypertrophic osteoarthropathy + 2
      primary immunodeficiency disease + 2346
      progeria + 17
      progressive osseous heteroplasia 6
      proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 1
      proprotein convertase 1/3 deficiency 1
      proximal symphalangism + 2
      prune belly syndrome + 3
      pseudobulbar palsy + 0
      renal coloboma syndrome 1
      renal hypomagnesemia 5 with ocular involvement 3
      restless legs syndrome + 8
      salt and pepper syndrome 2
      scimitar syndrome + 2
      sea-blue histiocytosis 1
      seasonal affective disorder 0
      septooptic dysplasia + 13
      severe acute respiratory syndrome 90
      short QT syndrome + 8
      short bowel syndrome 3
      shoulder impingement syndrome 0
      sick building syndrome 1
      sick sinus syndrome + 11
      spondylocarpotarsal synostosis syndrome 2
      spondyloepimetaphyseal dysplasia, Strudwick type 4
      stiff skin syndrome 1
      subclavian steal syndrome 0
      sudden infant death syndrome + 15
      superior mesenteric artery syndrome + 0
      supine hypotensive syndrome 0
      syndromic X-linked intellectual disability Abidi type 0
      syndromic X-linked intellectual disability Siderius type 1
      syndromic X-linked intellectual disability Turner type 2
      temtamy preaxial brachydactyly syndrome 1
      tethered spinal cord syndrome 0
      thiamine-responsive megaloblastic anemia syndrome 1
      thyroid hormone resistance syndrome + 4
      tooth and nail syndrome 1
      toxic encephalopathy + 211
      transient global amnesia 0
      trichodontoosseous syndrome 1
      trichohepatoenteric syndrome + 4
      trichothiodystrophy + 9
      trigeminal neuralgia 15
      triple-A syndrome 2
      ulnar-mammary syndrome 1
      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
      visceral heterotaxy + 94
      xeroderma pigmentosum + 18
      yellow nail syndrome + 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.