Path 1 |
disease |
19141 |
 |
syndrome |
11372 |
 |
16Q24.3 Microdeletion Syndrome |
31 |
 |
3-M syndrome + |
3 |
 |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
26 |
 |
3MC syndrome + |
19 |
 |
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 |
56 |
 |
Acute Radiation Syndrome |
0 |
 |
Acute Retroviral Syndrome |
0 |
 |
Adams Nance Syndrome |
0 |
 |
Adams-Oliver syndrome + |
90 |
 |
Adams-Stokes Syndrome |
0 |
 |
Adducted Thumbs Syndrome + |
3 |
 |
Adie syndrome |
0 |
 |
Adrenogenital Syndrome + |
28 |
 |
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 + |
12 |
 |
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 + |
20 |
 |
Alsing Syndrome |
0 |
 |
Alstrom syndrome |
14 |
 |
Alves Castelo dos Santos Syndrome |
0 |
 |
Ameloonychohypohidrotic Syndrome |
0 |
 |
Amniotic Band Syndrome + |
0 |
 |
Angelman syndrome |
30 |
 |
Angelucci's syndrome |
0 |
 |
Anophthalmia Plus Syndrome |
0 |
 |
Ansell Bywaters Elderking Syndrome |
0 |
 |
Anticholinergic Syndrome |
0 |
 |
Antley-Bixler syndrome + |
3 |
 |
Aortic Arch Syndromes + |
8 |
 |
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 |
3 |
 |
Asrar Facharzt Haque Syndrome |
1 |
 |
Astley-Kendall Syndrome |
0 |
 |
Asymmetric Short Stature Syndrome |
0 |
 |
Ataxia-Microcephaly-Cataract Syndrome |
0 |
 |
Atkin Syndrome |
13 |
 |
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 + |
36 |
 |
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 + |
13 |
 |
Baralle-Macken Syndrome |
1 |
 |
Barber-Say syndrome |
1 |
 |
Bardet-Biedl syndrome + |
236 |
 |
Barre-Lieou syndrome |
0 |
 |
Bart-Pumphrey syndrome |
1 |
 |
Barth syndrome + |
62 |
 |
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 + |
72 |
 |
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 |
3 |
 |
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 |
1 |
 |
Brain-Lung-Thyroid Syndrome |
177 |
 |
Branchiogenic-Deafness Syndrome |
0 |
 |
Bresheck/Bresek Syndrome |
0 |
 |
Brown-Sequard syndrome |
0 |
 |
Brown-Vialetto-Van Laere syndrome + |
58 |
 |
Bruck syndrome + |
3 |
 |
Brugada syndrome + |
154 |
 |
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 |
3 |
 |
Cardiocranial Syndrome |
0 |
 |
Cardiofacioneurodevelopmental Syndrome |
1 |
 |
Cardiomyopathy Hypogonadism Collagenoma Syndrome |
0 |
 |
Carnevale Hernandez Castillo Syndrome |
0 |
 |
Carney complex + |
3 |
 |
Carney-Stratakis syndrome |
24 |
 |
Caroli syndrome |
1 |
 |
Carpenter syndrome + |
78 |
 |
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 |
3 |
 |
Chudley-Rozdilsky Syndrome |
0 |
 |
Circumvallate Placenta Syndrome |
0 |
 |
Ciuffo Syndrome |
0 |
 |
Clark-Baraitser syndrome |
1 |
 |
Cleidorhizomelic Syndrome |
0 |
 |
Cockayne syndrome + |
38 |
 |
Coffin-Lowry syndrome |
17 |
 |
Coffin-Siris syndrome + |
20 |
 |
Cogan syndrome + |
2 |
 |
Cohen syndrome |
37 |
 |
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 + |
13 |
 |
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 + |
49 |
 |
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 + |
7 |
 |
Crome Syndrome |
0 |
 |
Crouzon syndrome-acanthosis nigricans syndrome |
1 |
 |
Crush Syndrome |
1 |
 |
Cryopyrin-Associated Periodic Syndromes + |
32 |
 |
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 |
58 |
 |
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 + |
32 |
 |
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 |
20 |
 |
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 |
12 |
 |
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 |
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 + |
257 |
 |
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 + |
14 |
 |
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 |
1 |
 |
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 |
2 |
 |
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 + |
22 |
 |
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 |
12 |
 |
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor |
1 |
 |
Goldberg-Shprintzen syndrome |
64 |
 |
Goldblatt Viljoen Syndrome |
0 |
 |
Goldenhar syndrome + |
7 |
 |
Goldstein Hutt Syndrome |
0 |
 |
Gollop Coates Syndrome |
0 |
 |
Goniodysgenesis-Mental Retardation-Short Stature Syndrome |
0 |
 |
Goodpasture syndrome + |
57 |
 |
Gorham's disease + |
1 |
 |
Gorlin Bushkell Jensen Syndrome |
0 |
 |
Gorlin Chaudhry Moss Syndrome |
0 |
 |
Granddad Syndrome |
0 |
 |
Grange Syndrome |
1 |
 |
Grant Syndrome |
0 |
 |
Green Sandford Davison Syndrome |
0 |
 |
Greig cephalopolysyndactyly syndrome |
6 |
 |
Groll Hirschowitz Syndrome |
0 |
 |
Growth Hormone Insensitivity with Immune Dysregulation + |
5 |
 |
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 |
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 |
11 |
 |
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 + |
10 |
 |
Hapnes Boman Skeie Syndrome |
0 |
 |
Hardikar Syndrome |
1 |
 |
Harel-Yoon syndrome |
2 |
 |
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 + |
1526 |
 |
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 |
11 |
 |
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 |
49 |
 |
KINSSHIP syndrome |
1 |
 |
Kabuki syndrome + |
37 |
 |
Kagami-Ogata syndrome |
37 |
 |
Kahn-Kahn-Katsanis Syndrome |
1 |
 |
Kahrizi syndrome |
1 |
 |
Kaler Garrity Stern Syndrome |
0 |
 |
Kallmann syndrome + |
34 |
 |
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 |
32 |
 |
Kearns-Sayre syndrome |
11 |
 |
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 + |
107 |
 |
Kleine-Levin syndrome |
4 |
 |
Kleiner Holmes Syndrome |
0 |
 |
Klinefelter syndrome |
17 |
 |
Klippel-Feil syndrome + |
52 |
 |
Klippel-Trenaunay syndrome |
4 |
 |
Kluver-Bucy syndrome + |
0 |
 |
Knobloch Syndrome + |
4 |
 |
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 |
 |
LAMA5-RELATED MULTISYSTEMIC SYNDROME |
1 |
 |
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 + |
14 |
 |
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 + |
3 |
 |
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 |
 |
Lymphedema, Cardiac Septal Defects, and Characteristic Facies |
0 |
 |
Lynch Lee Murday syndrome |
0 |
 |
Lyngstadaas Syndrome |
0 |
 |
MASA syndrome |
3 |
 |
MASS Syndrome |
2 |
 |
MAST syndrome |
1 |
 |
MEDNIK syndrome |
1 |
 |
MEHMO syndrome |
1 |
 |
MELAS syndrome + |
17 |
 |
MEND syndrome |
1 |
 |
MERRF Syndrome + |
3 |
 |
MLS syndrome + |
4 |
 |
MOMES Syndrome |
0 |
 |
MORIMOTO-RYU-MALICDAN NEUROMUSCULAR SYNDROME |
1 |
 |
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 |
7 |
 |
Malabsorption Syndromes + |
214 |
 |
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 |
6 |
 |
Marsili syndrome |
3 |
 |
Martinez Monasterio Pinheiro Syndrome |
0 |
 |
Martinez-Frias Syndrome |
1 |
 |
Martsolf Syndrome + |
21 |
 |
Massa Casaer Ceulemans Syndrome |
0 |
 |
Masters-Allen syndrome |
0 |
 |
Maternally Inherited Leigh Syndrome |
2 |
 |
May-Thurner Syndrome |
0 |
 |
Mayer-Rokitansky-Kuster-Hauser syndrome + |
3 |
 |
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 + |
66 |
 |
Megarbane Jalkh Syndrome |
0 |
 |
Megarbane Syndrome |
0 |
 |
Mehes Syndrome |
0 |
 |
Mehta Lewis Patton Syndrome |
0 |
 |
Meier-Gorlin syndrome + |
14 |
 |
Meige syndrome |
0 |
 |
Meigs Syndrome |
0 |
 |
Melanoma-Pancreatic Cancer Syndrome |
1 |
 |
Melhem Fahl Syndrome |
0 |
 |
Melkersson-Rosenthal syndrome |
1 |
 |
Mengel Konigsmark Syndrome |
0 |
 |
Menke-Hennekam Syndrome + |
2 |
 |
Menkes disease + |
8 |
 |
Merlob Grunebaum Reisner Syndrome |
0 |
 |
Mesomelia-Synostoses Syndrome |
0 |
 |
Mesomelic dysplasia, Kantaputra type |
0 |
 |
Metabolic Syndrome + |
363 |
 |
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 + |
19 |
 |
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange + |
465 |
 |
Microcephaly-Capillary Malformation Syndrome |
1 |
 |
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 |
11 |
 |
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 |
3 |
 |
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 + |
364 |
 |
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 + |
26 |
 |
Parkinson's disease 15 |
2 |
 |
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 |
10 |
 |
Pellagra like Syndrome |
0 |
 |
Pelvic dysplasia-arthrogryposis of lower limbs syndrome |
0 |
 |
Pendred syndrome |
7 |
 |
Penttinen-Aula Syndrome |
1 |
 |
Perlman syndrome |
53 |
 |
Perniola Krajewska Carnevale Syndrome |
0 |
 |
Perrault syndrome + |
12 |
 |
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 + |
16 |
 |
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 + |
17 |
 |
Prata Libéral Gonçalves Syndrome |
0 |
 |
Pre-Excitation Syndromes + |
53 |
 |
Preeyasombat Varavithya Syndrome |
0 |
 |
Presumed Ocular Histoplasmosis Syndrome |
0 |
 |
Prieto syndrome |
1 |
 |
Primrose Syndrome |
1 |
 |
Propofol Infusion Syndrome |
1 |
 |
Pseudo-TORCH Syndrome + |
3 |
 |
Pseudo-Zellweger Syndrome |
2 |
 |
Pseudoaminopterin Syndrome |
0 |
 |
Qazi Markouizos syndrome |
0 |
 |
RASopathy + |
336 |
 |
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 |
 |
Reardon Hall Slaney syndrome |
0 |
 |
Reardon Wilson Cavanagh Syndrome |
0 |
 |
Recombinant Chromosome 8 Syndrome |
119 |
 |
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 + |
38 |
 |
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 |
1 |
 |
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 |
1 |
 |
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 |
4 |
 |
Schwartz-Lelek Syndrome |
3 |
 |
Schweitzer Kemink Graham Syndrome |
0 |
 |
Scott syndrome |
1 |
 |
Sd(a) POLYAGGLUTINATION SYNDROME |
1 |
 |
Seaver Cassidy Syndrome |
0 |
 |
Seckel syndrome + |
14 |
 |
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 + |
21 |
 |
Simian Acquired Immunodeficiency Syndrome |
0 |
 |
Simosa Cranio Facial Syndrome |
0 |
 |
Simpson-Golabi-Behmel syndrome type 1 |
5 |
 |
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 |
1 |
 |
Sohval Soffer Syndrome |
0 |
 |
Sonoda Syndrome |
0 |
 |
Sotos syndrome + |
67 |
 |
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 |
13 |
 |
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 + |
398 |
 |
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 |
64 |
 |
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 + |
59 |
 |
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 + |
3 |
 |
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 |
18 |
 |
Viljoen Kallis Voges Syndrome |
0 |
 |
Vissers-Bodmer syndrome |
2 |
 |
Vogt-Koyanagi-Harada disease |
7 |
 |
Vohwinkel syndrome |
1 |
 |
Volcke Soekarman Syndrome |
0 |
 |
WT Limb Blood Syndrome |
0 |
 |
Waaler Aarskog Syndrome |
0 |
 |
Waardenburg syndrome + |
17 |
 |
Waisman syndrome |
1 |
 |
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 + |
47 |
 |
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 |
 |
Wieacker-Wolff syndrome |
1 |
 |
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 + |
121 |
 |
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 |
6 |
 |
adult respiratory distress syndrome |
108 |
 |
agenesis of corpus callosum, cardiac, ocular, and genital syndrome |
1 |
 |
akinetic mutism |
0 |
 |
alacrima, achalasia, and impaired intellectual development syndrome |
52 |
 |
alopecia, neurologic defects, and endocrinopathy syndrome |
1 |
 |
alopecia-mental retardation syndrome + |
3 |
 |
alpha thalassemia-X-linked intellectual disability syndrome |
8 |
 |
androgen insensitivity syndrome + |
6 |
 |
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome |
1 |
 |
anterior spinal artery syndrome |
0 |
 |
antiphospholipid syndrome + |
13 |
 |
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 + |
234 |
 |
autosomal dominant congenital deafness with onychodystrophy |
1 |
 |
autosomal recessive cutis laxa type III + |
2 |
 |
basilar artery insufficiency + |
0 |
 |
bilateral perisylvian polymicrogyria + |
10 |
 |
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 + |
127 |
 |
cerebrocostomandibular syndrome |
1 |
 |
chiasmal syndrome |
0 |
 |
chondrodysplasia punctata + |
10 |
 |
chondrodysplasia-pseudohermaphroditism syndrome |
1 |
 |
chromosomal deletion syndrome + |
1604 |
 |
chromosomal duplication syndrome + |
1292 |
 |
chronic atrial and intestinal dysrhythmia |
1 |
 |
chronic fatigue syndrome |
13 |
 |
ciliopathy + |
1030 |
 |
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 |
2 |
 |
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 |
17 |
 |
cystic fibrosis + |
114 |
 |
deafness, dystonia, and cerebral hypomyelination |
5 |
 |
deafness-dystonia-optic neuronopathy syndrome |
2 |
 |
deafness-intellectual disability, Martin-Probst type syndrome |
0 |
 |
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 + |
94 |
 |
dysplastic nevus syndrome |
5 |
 |
ectodermal dysplasia + |
549 |
 |
electroclinical syndrome + |
1517 |
 |
empty sella syndrome + |
1 |
 |
encephalopathy due to defective mitochondrial and peroxisomal fission 1 |
4 |
 |
endocrine-cerebro-osteodysplasia syndrome |
3 |
 |
enhanced S-cone syndrome |
4 |
 |
epidermolysis bullosa simplex with muscular dystrophy |
64 |
 |
euthyroid sick syndrome |
1 |
 |
exfoliation syndrome |
23 |
 |
facial hemiatrophy |
0 |
 |
fetal akinesia deformation sequence syndrome + |
72 |
 |
fetal alcohol syndrome |
1 |
 |
fetal encasement syndrome |
1 |
 |
fetal valproate syndrome |
0 |
 |
fibrogenesis imperfecta ossium |
0 |
 |
foveal hypoplasia 1 |
2 |
 |
fragile X syndrome + |
16 |
 |
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 + |
51 |
 |
hepatic encephalopathy + |
35 |
 |
hepatopulmonary syndrome |
8 |
 |
hepatorenal syndrome |
5 |
 |
hereditary alpha tryptasemia syndrome |
0 |
 |
hereditary arterial and articular multiple calcification syndrome + |
13 |
 |
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 + |
223 |
 |
hydrolethalus syndrome + |
3 |
 |
hypereosinophilic syndrome + |
28 |
 |
hyperferritinemia-cataract syndrome |
2 |
 |
hyperinsulinism + |
640 |
 |
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 + |
341 |
 |
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 |
65 |
 |
inappropriate ADH syndrome + |
2 |
 |
inclusion body myopathy with Paget disease of bone and frontotemporal dementia + |
6 |
 |
infancy electroclinical syndrome + |
118 |
 |
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 |
22 |
 |
kwashiorkor |
0 |
 |
lateral medullary syndrome + |
1 |
 |
lateral meningocele syndrome |
1 |
 |
lethal congenital contracture syndrome + |
13 |
 |
locked-in syndrome |
0 |
 |
long QT syndrome + |
315 |
 |
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 |
4 |
 |
mitochondrial DNA depletion syndrome 8A |
5 |
 |
mixed connective tissue disease |
8 |
 |
monofixation syndrome |
0 |
 |
mosaic variegated aneuploidy syndrome + |
55 |
 |
mulibrey nanism |
7 |
 |
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 + |
21 |
 |
multiple synostoses syndrome + |
4 |
 |
multiple system atrophy + |
42 |
 |
myelodysplastic syndrome + |
241 |
 |
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 |
1 |
 |
nephrotic syndrome + |
174 |
 |
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 + |
94 |
 |
oculodentodigital dysplasia + |
2 |
 |
ornithine translocase deficiency |
1 |
 |
orofacial cleft + |
160 |
 |
orofaciodigital syndrome + |
32 |
 |
osteoporosis-pseudoglioma syndrome |
1 |
 |
ovarian hyperstimulation syndrome |
9 |
 |
overactive bladder syndrome |
12 |
 |
palindromic rheumatism |
0 |
 |
palmoplantar keratoderma-deafness syndrome |
3 |
 |
palmoplantar keratoderma-esophageal carcinoma syndrome |
1 |
 |
pancreatic hypoplasia-diabetes-congenital heart disease syndrome |
3 |
 |
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 |
41 |
 |
pigment dispersion syndrome |
2 |
 |
plasminogen deficiency type I |
1 |
 |
polycystic ovary syndrome + |
174 |
 |
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 + |
4432 |
 |
progeroid syndrome + |
29 |
 |
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 + |
16 |
 |
severe acute respiratory syndrome |
87 |
 |
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 + |
36 |
 |
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 + |
2 |
 |
thiamine-responsive megaloblastic anemia syndrome |
1 |
 |
thyroid hormone resistance syndrome + |
4 |
 |
tooth and nail syndrome |
9 |
 |
toxic encephalopathy + |
247 |
 |
transient global amnesia |
0 |
 |
trichodontoosseous syndrome |
44 |
 |
trichohepatoenteric syndrome + |
4 |
 |
trichothiodystrophy + |
13 |
 |
trigeminal neuralgia |
18 |
 |
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 + |
98 |
 |
wrinkly skin syndrome |
1 |
 |
xeroderma pigmentosum + |
24 |
 |
yellow nail syndrome + |
0 |
 |