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Term:
Flynn Aird Syndrome (DOID:9008101)
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Parent Terms Term With Siblings Child Terms
cataract +     
dental caries +     
Joint Diseases +     
skin disease +     
syndrome +     
16Q24.3 Microdeletion Syndrome  
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia  
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  
3MC syndrome +   
47, XYY Syndrome 
49,XXXXX Syndrome 
5-Nucleotidase Syndrome 
7p2 Monosomy Syndrome 
Aagenaes syndrome 
Aarskog syndrome +   
Aase Smith Syndrome 
Abderhalden-Kaufmann-Lignac Syndrome 
ablepharon macrostomia syndrome  
Abruzzo Erickson Syndrome  
Abuse Dwarfism Syndrome 
Achard syndrome 
Achard-Thiers Syndrome 
Achenbach syndrome 
Ackerman Syndrome 
Acneiform Eruptions +   
acquired immunodeficiency syndrome +   
acrocallosal syndrome +   
Acromegaloid Facial Appearance Syndrome 
Acrootoocular Syndrome 
Acropectoral Syndrome 
Acrorenal Mandibular Syndrome 
acrorenal syndrome +  
acute chest syndrome  
Acute Coronary Syndrome  
Acute Radiation Syndrome 
Acute Retroviral Syndrome 
Adams Nance Syndrome 
Adams-Oliver syndrome +   
Adams-Stokes Syndrome 
Adducted Thumbs Syndrome +   
adiaspiromycosis 
Adie syndrome 
Adrenogenital Syndrome +   
adult respiratory distress syndrome  
ADULT syndrome  
Aicardi syndrome 
Aicardi-Goutieres syndrome +   
Akaba Hayasaka Syndrome 
Akesson Syndrome 
akinetic mutism 
Aksu von Stockhausen Syndrome 
Al Awadi Syndrome  
Al Gazali Aziz Salem Syndrome 
Al Gazali Hirschsprung Syndrome 
Al Gazali Khidr Prem Chandran Syndrome 
Al Gazali Sabrinathan Nair Syndrome 
Al Kaissi Syndrome  
Al-Gazali Syndrome 
AL-RAQAD SYNDROME  
Alacrima, Achalasia, and Mental Retardation Syndrome  
Alagille syndrome  
Alazami Syndrome  
ALAZAMI-YUAN SYNDROME  
Albinism Deafness Syndrome 
Aldred Syndrome 
Alice in Wonderland Syndrome 
Alien Hand Syndrome 
ALKURAYA-KUCINSKAS SYNDROME  
Allan-Herndon-Dudley syndrome  
Allanson Pantzar McLeod Syndrome +   
allergic cutaneous vasculitis +   
Aloi Tomasini Isaia Syndrome 
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome  
alpha thalassemia-X-linked intellectual disability syndrome  
Alpha-B Crystallinopathy with Cataract 
Alpha-Thalassemia Myelodysplasia Syndrome  
Alsing Syndrome 
Alstrom syndrome  
Alves Castelo dos Santos Syndrome 
Amaurosis Hypertrichosis  
Ameloonychohypohidrotic Syndrome 
Amniotic Band Syndrome +  
ancylostomiasis +  
androgen insensitivity syndrome +   
Angelman syndrome  
Angelucci's syndrome 
angioedema +   
Aniridia 1  
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract 
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
ankylosis +   
Anophthalmia Plus Syndrome 
Ansell Bywaters Elderking Syndrome 
anterior spinal artery syndrome 
Anticholinergic Syndrome 
antiphospholipid syndrome +   
Antisynthetase Syndrome 
Aortic Arch Syndromes +   
apparent mineralocorticoid excess syndrome  
Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation 
ARC syndrome  
AREDYLD Syndrome 
Arena Syndrome 
Arima Syndrome 
Armfield syndrome 
Arnold Stickler Bourne Syndrome 
Arroyo Garcia Cimadevilla Syndrome 
arterial tortuosity syndrome  
Arthralgia +   
arthritis +   
Arthrogryposis +   
Arthrogryposis-like Hand Anomaly and Sensorineural Deafness 
arthropathy +   
Arts syndrome  
aseptic meningitis  
Asperger syndrome +   
asphyxiating thoracic dystrophy +   
Asrar Facharzt Haque Syndrome 
Astley-Kendall Syndrome 
Asymmetric Short Stature Syndrome 
Ataxia, Deafness, and Cardiomyopathy 
Ataxia-Microcephaly-Cataract Syndrome 
Athabaskan brainstem dysgenesis syndrome  
Atkin Syndrome  
Au-Kline Syndrome  
Auditory Neuropathy, Nonsyndromic Recessive 
Aughton Syndrome 
Auriculo-Condylar Syndrome  
Ausems Wittebol-Post Hennekam Syndrome 
autoimmune disease of central nervous system +   
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE  
Autonomic Dysreflexia 
autosomal dominant cerebellar ataxia, deafness and narcolepsy  
Autosomal Dominant Compelling Helio Ophthalmic Outburst Syndrome 
autosomal dominant keratitis-ichthyosis-deafness syndrome  
autosomal dominant nonsyndromic deafness +   
autosomal recessive cutis laxa type III +   
autosomal recessive early-onset Parkinson's disease 15  
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 
autosomal recessive nonsyndromic deafness +   
autosomal recessive pericentral pigmentary retinopathy 
autosomal recessive spinocerebellar ataxia 19  
Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects  
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
Axenfeld-Rieger syndrome +   
Ayazi Syndrome 
Ayme-Gripp Syndrome  
Baastrup's syndrome 
BADS syndrome 
Baetz-Greenwalt syndrome 
Bagatelle Cassidy syndrome 
Bahemuka Brown syndrome 
Bainbridge-Ropers Syndrome  
Baker Vinters Syndrome 
Baller-Gerold syndrome  
Bangstad Syndrome 
Banki Syndrome 
Banti's Syndrome  
Baraitser Brett Piesowicz Syndrome 
Baraitser Rodeck Garner syndrome 
Baraitser-Winter syndrome +   
Barber-Say syndrome  
Bardet-Biedl syndrome +   
Barre-Lieou syndrome 
Bart-Pumphrey syndrome  
Barth syndrome +   
Bartter disease +   
Bartter disease type 4A  
Bartter disease type 4b  
Basan Syndrome  
Basaran Yilmaz Syndrome  
Basel-Vanagaite-Smirin-Yosef syndrome  
basilar artery insufficiency 
Bassoe Syndrome 
Battaglia Neri Syndrome 
Battered Child Syndrome 
Bazex-Dupre-Christol Syndrome 
Bazopoulou Kyrkanidou Syndrome 
Beardwell Syndrome 
Beaulieu-Boycott-Innes Syndrome  
Becker Nevus Syndrome 
Beckwith-Wiedemann syndrome +   
Beemer Ertbruggen Syndrome 
Beemer-Langer syndrome  
Behcet's disease +   
Behr Syndrome  
Behrens Baumann Dust Syndrome 
Bell's palsy 
Bellini Chiumello Rimoldi Syndrome 
Ben Ari Shuper Mimouni Syndrome 
Bent Bone Dysplasia Syndrome  
Berk-Tabatznik Syndrome 
Bernard-Soulier syndrome +   
Bhaskar Jagannathan Syndrome 
Birk-Barel syndrome  
BIRK-LANDAU-PEREZ SYNDROME  
Birt-Hogg-Dube syndrome  
Bjornstad syndrome  
Blau syndrome  
blepharocheilodontic syndrome +   
Bloom syndrome  
Blue Diaper Syndrome 
blue drum syndrome +  
Blue Rubber Bleb Nevus Syndrome 
blue toe syndrome 
Bobble-Head Doll Syndrome 
Boerhaave Syndrome 
Bohring Syndrome  
Bone Marrow Failure Syndromes +   
Bonneau Syndrome 
Book Syndrome 
Borjeson-Forssman-Lehmann syndrome  
Bork Stender Schmidt Syndrome 
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome  
Boudhina Yedes Khiari syndrome 
Bowen Syndrome 
Bowen-Conradi syndrome  
Boylan Dew Greco Syndrome 
brachial plexus neuritis +   
Brachioskeletogenital Syndrome  
Brachydactylous Dwarfism Mseleni Type 
Brachydactyly, Intraventricular Septal Defect, and Deafness 
brachydactyly-syndactyly syndrome  
Brachymesomelia Renal Syndrome 
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 
brachyolmia-amelogenesis imperfecta syndrome  
brain disease +   
Brain-Lung-Thyroid Syndrome  
Branchiogenic-Deafness Syndrome 
branchiooculofacial syndrome  
branchiootorenal syndrome +   
breast disease +   
Bresheck/Bresek Syndrome 
Brooks-Wisniewski-Brown syndrome 
Brown-Sequard syndrome 
Brown-Vialetto-Van Laere syndrome +   
Bruck syndrome +   
Brugada syndrome +   
Brunner syndrome  
Brunoni Syndrome 
Budd-Chiari syndrome +   
Burn-Mckeown Syndrome  
Burnett Schwartz Berberian Syndrome +   
burning mouth syndrome +  
bursitis +  
Buschke-Ollendorff Syndrome  
CAHMR Syndrome 
Calabro Syndrome 
Calcification of Joints and Arteries +   
Camera Marugo Cohen Syndrome 
CAMFAK Syndrome 
camptodactyly-arthropathy-coxa vara-pericarditis syndrome  
Camptodactyly-Ichthyosis Syndrome 
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
CANOMAD Syndrome 
Cantalamessa Baldini Ambrosi Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
Capgras syndrome 
capillary leak syndrome +   
Caplan's syndrome 
CAPOS Syndrome  
Capsule Opacification 
Cardio-Renal Syndrome  
Cardiocranial Syndrome 
cardiofaciocutaneous syndrome +   
Cardiomyopathy Hypogonadism Collagenoma Syndrome 
Carnevale Hernandez Castillo Syndrome 
Carney-Stratakis Syndrome  
Carpenter syndrome +   
Carrington Syndrome  
Cartilage Hair Hypoplasia Like Syndrome 
Cartwright Nelson Fryns Syndrome 
cataract 1 multiple types  
cataract 10 multiple types  
cataract 11 multiple types +   
cataract 12 multiple types  
cataract 13 with adult i phenotype  
cataract 14 multiple types  
cataract 15 multiple types  
cataract 16 multiple types  
cataract 17 multiple types  
cataract 18  
cataract 19 multiple types  
cataract 2 multiple types  
cataract 20 multiple types  
cataract 21 multiple types  
cataract 22 multiple types  
cataract 23  
cataract 24 
cataract 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
cataract 29 
cataract 3 multiple types  
cataract 30  
cataract 31 multiple types  
cataract 32 multiple types 
cataract 33  
cataract 34 multiple types  
cataract 35 
cataract 36  
cataract 37 
cataract 38  
cataract 39 multiple types  
cataract 4 multiple types +   
cataract 40  
cataract 41  
cataract 42  
cataract 43  
cataract 44  
cataract 45  
cataract 46 juvenile-onset  
cataract 5 multiple types  
cataract 6 multiple types  
cataract 7  
cataract 8 multiple types 
cataract 9 multiple types  
Cataract and Congenital Ichthyosis 
Cataract Ataxia Deafness 
Cataract Congenital Dominant Non Nuclear  
Cataract Hutterite Type  
Cataract Microcornea Syndrome  
Cataract, Age-Related Nuclear 
Cataract, Alopecia, Sclerodactyly 
Cataract, Autosomal Dominant Nuclear  
Cataract, Autosomal Recessive Congenital 1 
Cataract, Cortical Pulverulent, Late-Onset 
Cataract, Crystalline Coralliform 
Cataract, Floriform 
Cataract, Lamellar 2  
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
Cataract, Polymorphic and Lamellar 
Cataract, Posterior Polar, 1  
Cataract, Posterior Polar, 5 
Cataract, Progressive Polymorphic Cortical 
Cataract, Pulverulent 
Cataract, Sutural, with Punctate and Cerulean Opacities  
Cataract, Variable Zonular Pulverulent 
Cataract, Zonular Central Nuclear 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
Catel Manzke Syndrome  
Cauda equina syndrome 
Cayler Cardiofacial Syndrome  
CEDNIK syndrome  
Central Cord Syndrome 
Central Nervous System Infections +   
Central Nervous System Neoplasms +   
cercarial dermatitis 
Cerebellar Ataxia and Hypergonadotropic Hypogonadism 
Cerebellar Ataxia and Neurosensory Deafness 
cerebellar ataxia, mental retardation and dysequlibrium syndrome +   
Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 
Cerebellofaciodental Syndrome  
cerebral creatine deficiency syndrome +   
Cerebrocostomandibular Syndrome  
Cerebrofrontofacial Syndrome +   
Cerebrooculofacioskeletal Syndrome +   
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
Cerebrooculonasal Syndrome 
Cervical Rib Syndrome +  
chancroid +  
Chang Davidson Carlson Syndrome 
Char syndrome  
Charcot-Marie-Tooth Disease and Deafness  
Charcot-Marie-Tooth disease type 2J  
Charcot-Marie-Tooth disease X-linked recessive 4  
CHARGE syndrome  
Chemke Oliver Mallek Syndrome 
Chiari-Frommel Syndrome 
chiasmal syndrome 
Chilaiditi Syndrome 
Chitayat Meunier Hodgkinson Syndrome 
Chitayat Moore Del Bigio Syndrome 
CHITAYAT SYNDROME  
Chitty Hall Baraitser Syndrome 
Chitty Hall Webb Syndrome 
Chondrodysplasia Punctata Syndrome 
chondrodysplasia-pseudohermaphroditism syndrome  
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 
Chondromatosis, Synovial +  
CHOPS SYNDROME  
chromosomal deletion syndrome +   
chromosomal duplication syndrome +   
Chromosome 10q Duplication Syndrome 
Chromosome 11p Deletion Syndrome 
Chromosome 13q Deletion Syndrome +  
Chromosome 16p13.3 Deletion Syndrome 
CHROMOSOME 2p16.3 DELETION SYNDROME  
Chromosome 2q37 Deletion Syndrome  
Chromosome 3 Duplication Syndrome 
Chromosome 4, 4q Terminal Deletion Syndrome 
Chromosome 4q- Syndrome 
chromosome 5q deletion syndrome  
Chromosome 6 Ring Syndrome 
Chromosome 7 Ring Syndrome 
Chromosome Xp11.3 Deletion Syndrome 
Chromosome Xq Duplication Syndrome 
Chromosome Xq28 Duplication Syndrome 
chronic atrial and intestinal dysrhythmia  
chronic fatigue syndrome  
chronic ulcer of skin +   
Chudley-Mccullough syndrome  
Chudley-Rozdilsky Syndrome 
Churg-Strauss syndrome  
ciliopathy +   
Circumvallate Placenta Syndrome 
Ciuffo Syndrome 
CK Syndrome  
CLAPO Syndrome 
Clark-Baraitser Syndrome 
cleft lip-palate-ectodermal dysplasia syndrome  
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
cleft palate-lateral synechia syndrome  
Cleidorhizomelic Syndrome 
CLOVES syndrome  
COACH Syndrome  
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
Cockayne syndrome +   
cocoon syndrome  
CODAS Syndrome  
coenurosis 
Coffin-Lowry syndrome  
Coffin-Siris syndrome +   
Cogan syndrome +   
Cohen Syndrome  
Cohen-Gibson Syndrome  
cold-induced sweating syndrome +   
Cole-Carpenter syndrome +   
Coloboma, Cleft Lip/Palate and Mental Retardation Syndrome 
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 
compartment syndrome +   
complex regional pain syndrome +  
Cone Dystrophy 4  
Cone Dystrophy, X-Linked, with Tapetal-like Sheen 
Cone Rod Dystrophy Amelogenesis Imperfecta  
cone-rod dystrophy 1  
cone-rod dystrophy 10  
cone-rod dystrophy 11  
cone-rod dystrophy 12  
cone-rod dystrophy 13  
cone-rod dystrophy 14  
cone-rod dystrophy 16  
cone-rod dystrophy 17 
cone-rod dystrophy 18  
cone-rod dystrophy 19  
cone-rod dystrophy 2  
cone-rod dystrophy 20  
Cone-Rod Dystrophy 21  
cone-rod dystrophy 3  
cone-rod dystrophy 5  
cone-rod dystrophy 6  
cone-rod dystrophy 7  
cone-rod dystrophy 8 
CONE-ROD DYSTROPHY AND HEARING LOSS  
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
Congenital Cataracts, Hearing Loss, and Neurodegeneration  
congenital central hypoventilation syndrome  
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia  
Congenital Deafness, with Total Albinism 
Congenital Ectodermal Dysplasia with Hearing Loss 
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 
congenital muscular dystrophy with cataracts and intellectual disability  
Congenital Pain Insensitivity +   
Conn's syndrome  
contagious pustular dermatitis 
Contiguous Abcd1/Dxs1375e Deletion Syndrome  
Contracture +   
Coracoclavicular Joint, Anomalous 
Cornea Guttata with Anterior Polar Cataract 
Corneal Cerebellar Syndrome 
Corneal Dystrophy and Perceptive Deafness  
Cornelia de Lange syndrome +   
Corneodermatoosseous Syndrome 
Coronary-Subclavian Steal Syndrome 
cortical deafness +   
Cortical Malformations, Occipital  
Costello syndrome  
Cote Katsantoni Syndrome 
COUSIN SYNDROME  
Cowden-Like Syndrome  
Coxoauricular Syndrome 
Cracked Tooth Syndrome 
Crane-Heise Syndrome 
Cranioacrofacial Syndrome 
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome  
Craniofacial Deafness Hand Syndrome  
Craniofaciofrontodigital Syndrome 
Craniofacioskeletal Syndrome 
Craniomicromelic Syndrome 
Craniosynostosis 2  
Craniosynostosis Mental Retardation Clefting Syndrome 
Cree Mental Retardation Syndrome 
crescentic glomerulonephritis  
CREST syndrome  
Crigler-Najjar syndrome +   
Crome Syndrome 
Crush Syndrome  
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
Cryopyrin-Associated Periodic Syndromes +   
Cryptomicrotia Brachydactyly Syndrome 
Crystal Arthropathies +   
Cubital Tunnel Syndrome 
Curatolo Cilio Pessagno Syndrome 
Curly Hair-Acral Keratoderma-Caries Syndrome 
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome 
Cushing syndrome +   
Cutaneous Fistula 
cutaneous lupus erythematosus +   
cutis laxa +   
Cutis Laxa-Marfanoid Syndrome 
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness  
Cyprus Facial Neuromusculoskeletal Syndrome 
Daentl Towsend Siegel Syndrome 
Dahlberg Borer Newcomer Syndrome 
Daish Hardman Lamont Syndrome 
Dandy-Walker syndrome +   
Daneman Davy Mancer Syndrome 
Davenport Donlan Syndrome 
Davis Lafer Syndrome 
De Hauwere Leroy Adriaenssens syndrome 
De Hauwere syndrome 
De Sanctis-Cacchione Syndrome  
Deafness Enamel Hypoplasia Nail Defects  
Deafness Oligodontia Syndrome 
Deafness, Aminoglycoside-Induced  
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
Deafness, High-Frequency Sensorineural, X-Linked  
Deafness, Mid-Tone Neural 
Deafness, Progressive High-Tone Neural 
Deafness, with Smith-Magenis Syndrome  
Deafness, X-Linked 1  
Deafness, X-Linked 3 
Deafness, X-Linked 4  
Deafness, X-Linked 5  
Deafness-Craniofacial Syndrome 
deafness-dystonia-optic neuronopathy syndrome  
Deafness-Hypogonadism Syndrome 
deafness-intellectual disability, Martin-Probst type syndrome  
Deal Barratt Dillon Syndrome 
dengue shock syndrome 
Dennis Fairhurst Moore Syndrome 
Dental Fissures 
dentin caries 
Denys-Drash syndrome  
Der Kaloustian Mcintosh Silver Syndrome 
Dermal Fibrosis  
Dermal Ridges, Nelson Syndrome 
dermatitis +   
Dermatoleukodystrophy 
dermatomyositis +   
Desanto-Shinawi Syndrome  
Devriendt syndrome 
diabetic cataract  
Dianzani Autoimmune Lymphoproliferative Syndrome 
Diarrhea prodrome + Hemolytic-Uremic Syndrome 
diffuse infiltrative lymphocytosis syndrome 
Digitorenocerebral Syndrome  
dilated cardiomyopathy 1J  
Dincsoy Salih Patel Syndrome 
dipetalonemiasis 
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Distal Renal Tubular Acidosis, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss  
Distal Trisomy 10q Syndrome 
DK Phocomelia Syndrome 
dominant pericentral pigmentary retinopathy 
Donnai-Barrow syndrome  
Donohue syndrome +   
Down syndrome +   
Drachtman Weinblatt Sitarz Syndrome 
Dravet syndrome  
Dropped Head Syndromes 
Drug Hypersensitivity Syndrome  
dry eye syndrome +   
Duane retraction syndrome +   
Duane-radial ray syndrome  
Dubowitz syndrome 
Duker Weiss Siber syndrome 
Duplication 4p Syndrome 
Duplication of Eyebrows with Stretchable Skin and Syndactyly 
Dursun Syndrome  
Dwarfism Stiff Joint Ocular Abnormalities 
Dyggve-Melchior-Clausen disease +   
Dykes Markes Harper Syndrome 
dysplastic nevus syndrome +   
Eagle Syndrome 
EAST syndrome  
ectodermal dysplasia +   
Ectodermal Dysplasia and Neurosensory Deafness 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
Ectodermal Dysplasia-Skin Fragility Syndrome  
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Ectrodactyly-Cleft Palate Syndrome 
Eczematous Skin Diseases +   
Edict Syndrome  
Edinburgh Malformation Syndrome 
EEC syndrome +   
Ehlers-Danlos syndrome +   
Elastosis Perforans Serpiginosa 
electroclinical syndrome +   
Elliott Ludman Teebi Syndrome 
Ellis Yale Winter Syndrome 
Ellis-Van Creveld syndrome +   
Emanuel Syndrome 
empty sella syndrome +   
enamel caries 
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 
encephalomyelitis +   
Encephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
endocrine-cerebro-osteodysplasia syndrome  
endometriosis in scar of skin 
enhanced S-cone syndrome  
epidermal nevus +   
epidermolytic hyperkeratosis +   
epidural abscess 
Epilepsy, Hearing Loss, and Mental Retardation Syndrome  
Ermine Phenotype 
Erythema +   
erythematosquamous dermatosis 
euthyroid sick syndrome  
Evans' syndrome +   
EVEN-PLUS SYNDROME  
exanthem +   
exfoliation syndrome  
FACES Syndrome 
facial dermatosis +   
Facial Ectodermal Dysplasia  
facial hemiatrophy 
Facio Thoraco Genital Syndrome 
Faciocardiomelic Syndrome 
Faciocardiorenal Syndrome 
factitious disorder +  
Failed Back Surgery Syndrome 
Familial Antiphospholipid Syndrome 
Familial Cyclic Vomiting Syndrome  
Familial Hyperchylomicronemia Syndrome 
Familial Popliteal Pterygium Syndrome 
Fanconi syndrome +   
Fara Chlupackova Syndrome 
Fatal Pneumococcal Waterhouse-Friderichsen Syndrome 
Faye-Petersen Ward Carey Syndrome 
Feigenbaum Bergeron Richardson Syndrome 
Feingold syndrome +   
Feingold Trainer Syndrome 
Feline Acquired Immunodeficiency Syndrome 
Felty's syndrome 
Female Athlete Triad Syndrome 
Femoracetabular Impingement 
Femoral Facial Syndrome 
Femur Fibula Ulna Syndrome 
fetal alcohol syndrome 
Fetal Hydantoin Syndrome 
Fetal Inflammatory Response Syndrome  
Fetal Trimethadione Syndrome 
fetal valproate syndrome 
FG syndrome  
fibrogenesis imperfecta ossium 
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 
filariasis +   
Filippi Syndrome  
Fine-Lubinsky Syndrome 
Finnish Lethal Neonatal Metabolic Syndrome  
Fitz-Hugh-Curtis Syndrome 
Fitzsimmons Walson Mellor Syndrome 
Fitzsimmons-Guilbert Syndrome  
Fitzsimmons-McLachlan-Gilbert syndrome 
Floating-Harbor Syndrome  
FLOTCH Syndrome 
Flynn Aird Syndrome 
A rare, hereditary, neurological disease that is inherited in an autosomal dominant fashion. [Wikipedia]
Focal Facial Dermal Dysplasia 4  
Foix Chavany Marie Syndrome 
Foot Diseases +   
Forney Robinson Pascoe Syndrome  
Forsythe-Wakeling Syndrome 
Foster-Kennedy syndrome 
Fountain Syndrome 
Fowler Christmas Chapple Syndrome 
fragile X syndrome +   
Franceschini Vardeu Guala syndrome 
Fraser Jequier Chen Syndrome 
Fraser Syndrome +   
Fraser-Like Syndrome 
Frasier syndrome  
Freeman-Sheldon Syndrome  
Freire-Maia Odontotrichomelic Syndrome 
Frenkel Russe Syndrome 
Frey syndrome 
Frias Syndrome 
Fried Goldberg Mundel Syndrome 
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 
Frints De Smet Fabry Fryns Syndrome 
Frontoocular Syndrome 
Fryns Hofkens Fabry Syndrome 
Fryns Syndrome 
Fuchs' heterochromic uveitis 
Fuhrmann syndrome  
Furukawa Takagi Nakao Syndrome 
GABRIELE-DE VRIES SYNDROME  
Galloway-Mowat syndrome +   
Game Friedman Paradice Syndrome 
Gardner Morrisson Abbot Syndrome 
Gardner Syndrome +   
Gardner-Diamond Syndrome 
Garret Tripp Syndrome 
Gas Bloat Syndrome 
Gastrocutaneous Syndrome 
Gay Feinmesser Cohen Syndrome 
Gemignani Syndrome 
GEMSS Syndrome  
Genee-Wiedemann Syndrome  
Generalized Lipodystrophy, with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Genetic Skin Diseases +   
geniculate herpes zoster 
Genito Palato Cardiac Syndrome 
Genitopatellar Syndrome  
Genoa Syndrome 
German Syndrome 
Gerstmann syndrome 
Ghose Sachdev Kumar Syndrome 
Giacheti Syndrome 
Gilles de la Tourette syndrome +   
Gitelman syndrome  
GLUT1 Deficiency Syndrome  
Goldberg-Shprintzen syndrome  
Goldblatt Viljoen Syndrome 
Goldenhar syndrome +   
Goldstein Hutt Syndrome 
Gollop Coates Syndrome 
GOMBO Syndrome 
Gomez Lopez Hernandez Syndrome 
Gonadal Dysgenesis, XX Type, with Deafness +   
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
Good syndrome 
Goodpasture syndrome +   
Gordon Syndrome  
Gorham's disease +  
Gorlin Bushkell Jensen Syndrome 
Gorlin Chaudhry Moss Syndrome 
Graham Boyle Troxell Syndrome 
Granddad Syndrome 
Grange Syndrome  
Grant Syndrome 
gray platelet syndrome +   
Green Sandford Davison Syndrome 
Greig cephalopolysyndactyly syndrome  
Griscelli syndrome +   
Groll Hirschowitz Syndrome 
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Grubben de Cock Borghgraef Syndrome 
Guillain-Barre syndrome +   
Gurrieri Sammito Bellussi Syndrome 
Hadziselimovic Syndrome 
Hagemoser Weinstein Bresnick Syndrome 
hair disease +   
HAIR-AN syndrome 
Hajdu-Cheney syndrome  
Halal Setton Wang Syndrome 
Halal Syndrome 
Hall Riggs Mental Retardation Syndrome 
Hallermann-Streiff syndrome +   
Hallux Limitus 
Hallux Rigidus 
Hamanishi Ueba Tsuji Syndrome 
Hamano Tsukamoto Syndrome 
Hammer Toe Syndrome  
hand dermatosis +  
Hand-Arm Vibration Syndrome 
Hand-Foot Syndrome  
hand-foot-genital syndrome  
Hanhart Syndrome 
hantavirus pulmonary syndrome 
Hapnes Boman Skeie Syndrome 
Hardikar Syndrome 
HAREL-YOON SYNDROME  
Harlequin Syndrome 
Harrod Doman Keele Syndrome 
Hashimoto-Pritzker Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Hearing Loss, Cisplatin-Induced  
Hearing Loss, Noise-Induced  
Hearing Loss, Unilateral Sensorineural  
HEART AND BRAIN MALFORMATION SYNDROME  
Hecht Scott Syndrome 
Hecht Syndrome  
HELIX syndrome  
HELLP syndrome  
hemarthrosis +   
hemiplegia +   
hemolytic-uremic syndrome +   
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts  
hemorrhagic fever with renal syndrome +   
Hemorrhagic Shock and Encephalopathy Syndrome 
hemorrhoid +   
Hennekam syndrome +   
hepatic encephalopathy +   
hepatopulmonary syndrome  
hepatorenal syndrome  
hereditary breast ovarian cancer syndrome +   
hereditary fructose intolerance syndrome  
Hereditary Hyperferritinemia with Congenital Cataracts  
Hereditary Paraganglioma-Pheochromocytoma Syndromes  
hereditary spastic paraplegia 9A  
Hermansky-Pudlak syndrome +   
Hernandez Aguirre-Negrete Syndrome 
Hernandez Fragoso Syndrome 
Herrmann Syndrome 
Hersh Podruch Weisskopk Syndrome 
Hhhh Syndrome 
HID Syndrome  
high pressure neurological syndrome 
Hip Dysplasia, Beukes Type  
Hirata disease 
Histiocytosis with Joint Contractures and Sensorineural Deafness  
Hittner Hirsch Kreh Syndrome 
HIV Enteropathy 
HIV Wasting Syndrome  
HIV-Associated Lipodystrophy Syndrome  
Ho Kaufman Mcalister Syndrome 
Holt-Oram syndrome  
Holzgreve-Wagner-Rehder syndrome 
Homozygous 11p15-p14 Deletion Syndrome 
Hordnes Engebretsen Knudtson syndrome 
Horner's syndrome +  
Hoyeraal Hreidarsson Syndrome  
Humeroradial Multiple Synostosis Syndrome 
Hunt's Syndrome 
Hunter Carpenter Macdonald Syndrome 
Hunter-Macdonald Syndrome 
Hunter-McAlpine Syndrome 
Huntington's Disease-Like Syndrome 
HUPRA Syndrome  
Hutterite Cerebroosteonephrodysplasia Syndrome 
hydrarthrosis 
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 
hydrolethalus syndrome +   
hyperekplexia +   
hypereosinophilic syndrome +   
Hyperimmunoglobulin G1(A1) Syndrome 
hyperinsulinism +   
Hyperkeratosis-Hyperpigmentation Syndrome 
hypermobility syndrome 
hypertelorism, microtia, facial clefting syndrome 
Hypertrophic Neuropathy and Cataract 
hypogonadotropic hypogonadism 23 with or without anosmia  
hypomyelinating leukodystrophy 5  
hypoparathyroidism-deafness-renal disease syndrome  
hypoparathyroidism-retardation-dysmorphism syndrome  
hypoplastic left heart syndrome +   
Hypospadias-Mental Retardation Syndrome 
hypothyroidism +   
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
hypotonia-cystinuria syndrome  
Hypotrichosis-Lymphedema-Telangiectasia Syndrome +   
Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 
ichthyosis +   
Ichthyosis Cheek Eyebrow Syndrome 
Ichthyosis Follicularis Atrichia Photophobia Syndrome  
Ichthyosis Prematurity Syndrome  
Iida Kannari Syndrome 
Iliotibial Band Syndrome 
IMAGe syndrome  
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  
Immune Reconstitution Inflammatory Syndrome 
inappropriate ADH syndrome +   
inclusion body myopathy with Paget disease of bone and frontotemporal dementia +   
Incomplete Sertoli Cell-Only Syndrome 
infancy electroclinical syndrome +   
Infectious Skin Diseases +   
Insulin-Like Growth Factor I Deficiency  
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis  
intracranial abscess 
Iridocorneal Endothelial Syndrome +  
iridogoniodysgenesis syndrome +   
Irons Bhan Syndrome 
irritable bowel syndrome  
Islet Cell Tumor Syndrome 
Isodicentric Chromosome 15 Syndrome  
isolated microphthalmia 5  
Isolated Microphthalmia, with Cataract 1 
Isolated Microphthalmia, with Cataract 2  
Isolated Microphthalmia, with Cataract 3 
Isotretinoin Embryopathy Like Syndrome 
ITM2B-related cerebral amyloid angiopathy 2  
Jaccoud's syndrome 
Jackson-Weiss Syndrome  
Jaffer Beighton Syndrome 
Jagell Holmgren Hofer Syndrome 
Jalili Syndrome  
Jankovic Rivera Syndrome  
Jarcho-Levin Syndrome  
Jet Lag Syndrome 
JMP syndrome  
Johanson-Blizzard syndrome  
Johnson Munson Syndrome 
Johnson Neuroectodermal Syndrome 
Johnston Aarons Schelley Syndrome 
Joint Deformities, Acquired 
Joint Instability +   
Joint Loose Bodies 
Jones Hersh Yusk Syndrome 
Jones Syndrome 
Jorgenson Lenz Syndrome 
Joubert syndrome +   
Juberg Hayward Syndrome 
Judge Misch Wright Syndrome 
Jung Wolff Back Stahl Syndrome 
Juvenile Cataract, with Microcornea and Glucosuria  
juvenile polyposis syndrome +   
juvenile xanthogranuloma 
Kabuki syndrome +   
Kahrizi syndrome  
Kaler Garrity Stern Syndrome 
Kallmann syndrome +   
Kantaputra Gorlin Syndrome 
Kaplan Plauchu Fitch Syndrome 
Kaplowitz Bodurtha syndrome 
Kapur Toriello Syndrome 
Karak Syndrome  
Karandikar Maria Kamble Syndrome 
Kartagener syndrome  
Kasabach-Merritt Syndrome +   
Kashani Strom Utley Syndrome 
Kasznica Carlson Coppedge Syndrome 
Kat6a Syndrome  
Katsantoni Papadakou Lagoyanni Syndrome 
Kaufman Oculocerebrofacial Syndrome  
Kawasaki disease  
KBG syndrome  
Kearns-Sayre syndrome +   
Kennerknecht Sorgo Oberhoffer Syndrome 
Kennerknecht Vogel Syndrome 
Kenny Caffey Syndrome  
Keppen-Lubinsky Syndrome  
Keratitis-Ichthyosis-Deafness Syndrome  
keratosis +   
Keutel Syndrome  
Kimura disease 
King Denborough Syndrome  
Kleeblattschaedel Syndrome 
Kleefstra syndrome  
Kleine-Levin syndrome 
Kleiner Holmes Syndrome 
Klinefelter's syndrome  
Klippel-Feil syndrome +   
Klippel-Trenaunay syndrome +  
Kluver-Bucy syndrome +  
Knobloch Syndrome  
Kocher-Debre-Semelaigne Syndrome 
Kohlschutter Tonz Syndrome  
Konigsmark Knox Hussels Syndrome 
Koone Rizzo Elias Syndrome 
KOSAKI OVERGROWTH SYNDROME  
Kosztolanyi Syndrome 
Kotzot-Richter Syndrome 
Kousseff Nichols Syndrome 
Kowarski Syndrome  
Kozlowski Brown Hardwick Syndrome 
Kozlowski Ouvrier Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski Tsuruta Taki Syndrome 
Kozlowski Warren Fisher Syndrome 
Kozlowski-Krajewska Syndrome 
Krasnow Qazi Syndrome 
Krauss Herman Holmes Syndrome 
Krieble Bixler Syndrome 
Kufor-Rakeb syndrome  
Kumar Levick Syndrome 
Kuster Majewski Hammerstein Syndrome 
Kuster Syndrome 
Kuzniecky Andermann Syndrome 
kwashiorkor 
Lachiewicz Sibley Syndrome 
LADD syndrome  
Ladda Zonana Ramer syndrome 
LAMB-SHAFFER SYNDROME  
Lambert Syndrome 
Lambert-Eaton myasthenic syndrome  
Lambotte Syndrome 
Landau-Kleffner syndrome  
Landy Donnai Syndrome 
Laplane Fontaine Lagardere Syndrome 
Laron syndrome +   
Larsen Syndromes +   
Laryngo Onycho Cutaneous Syndrome  
Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy  
late-adult onset retinitis pigmentosa 
lateral medullary syndrome +   
Lateral Meningocele Syndrome  
Laurence Prosser Rocker Syndrome 
Laurence-Moon syndrome  
Laurin-Sandrow Syndrome  
Lazy Leukocyte Syndrome 
Le Marec Bracq Picaud Syndrome 
Leber congenital amaurosis 14  
Leber congenital amaurosis 3  
leg dermatosis 
Leg, Absence Deformity of, with Congenital Cataract  
Legius Syndrome  
Leichtman Wood Rohn Syndrome 
Lelis Syndrome 
Lemierre's syndrome 
LEOPARD syndrome +   
Leri Pleonosteosis 
Leriche Syndrome 
Lesch-Nyhan syndrome +   
lethal congenital contracture syndrome +   
leukocyte adhesion deficiency +   
Levator Syndrome 
Li-Fraumeni syndrome +   
Li-Fraumeni-Like Syndrome  
Lichtenstein Syndrome 
Liddle syndrome +   
Light Fixation Seizure Syndrome 
Limb-Mammary Syndrome  
Lipodystrophy with Congenital Cataracts and Neurodegeneration  
lipomatosis +   
localized scleroderma +   
locked-in syndrome 
Loeffler syndrome 
loiasis 
long QT syndrome +   
Loose Anagen Hair Syndrome +   
Lopes Gorlin Syndrome 
Lopes-Maciel-Rodan Syndrome  
Loucks-Innes Syndrome  
Lowry Maclean syndrome 
Lowry Wood Syndrome 
Lubani Al Saleh Teebi Syndrome 
Lubinsky Syndrome 
Lubs Syndrome  
Lujan Fryns Syndrome  
LUNG DAMAGE, IMMUNODEFICIENCY AND CHROMOSOME BREAKAGE SYNDROME  
Luscan-Lumish syndrome  
Lutembacher's syndrome 
Lutz Richner Landolt Syndrome 
Lymphedema Distichiasis Syndrome  
Lynch Lee Murday syndrome 
Lyngstadaas Syndrome 
Lysine Malabsorption Syndrome 
Maccario Mena Weir Syndrome 
MacDermot Winter Syndrome 
MacKay Shek Carr Syndrome 
Macleod Fraser syndrome 
Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome  
macrocephaly-autism syndrome  
Macroepiphyseal Dysplasia, McAlister Coe Type 
Macrophage Activation Syndrome  
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT  
Maffucci syndrome 
Majeed Syndrome  
Malabsorption Syndromes +   
Malignant Carcinoid Syndrome +  
Mallory-Weiss Syndrome 
Malouf Syndrome  
Mammary-Digital-Nail Syndrome 
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome  
mandibulofacial dysostosis with alopecia  
Manouvrier Syndrome 
Manz Syndrome 
Marden Walker Like Syndrome  
Marden-Walker Syndrome  
MARFAN LIPODYSTROPHY SYNDROME  
Marfan syndrome +   
Marfanoid Hypermobility Syndrome 
Marinesco-Sjogren syndrome  
Marles Greenberg Persaud Syndrome  
Maroteaux Fonfria Syndrome 
Marsden Syndrome  
Marshall Syndrome +   
Marshall-Smith syndrome  
Martinez Monasterio Pinheiro Syndrome 
Martinez-Frias Syndrome 
Martsolf syndrome  
MASA syndrome  
MASS Syndrome  
Massa Casaer Ceulemans Syndrome 
MAST syndrome  
Masters-Allen syndrome 
mastocytosis +   
Maternally Inherited Leigh Syndrome  
maturity-onset diabetes of the young type 5  
Mauriac Syndrome  
May-Thurner Syndrome 
McCune Albright syndrome  
McDonough Syndrome 
McKusick Kaufman Syndrome  
McPherson Clemens Syndrome 
McPherson Robertson Cammarano Syndrome 
Meacham Winn Culler Syndrome  
Meckel syndrome +   
Meckel-Like Cerebrorenodigital Syndrome 
meconium aspiration syndrome  
Medial Medullary Syndrome 
Medial Tibial Stress Syndrome 
median arcuate ligament syndrome 
Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 
MEDNIK syndrome  
megacystis-microcolon-intestinal hypoperistalsis syndrome  
Megakaryoblastic Leukemia of Down Syndrome  
Megalancephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome +   
Megarbane Jalkh Syndrome 
Megarbane Syndrome 
Mehes Syndrome 
MEHMO syndrome  
Mehta Lewis Patton Syndrome 
Meier Blumberg Imahorn Syndrome 
Meier-Gorlin syndrome +   
Meige syndrome 
Meigs Syndrome 
Melanoma Astrocytoma Syndrome  
Melanoma-Pancreatic Cancer Syndrome  
MELAS syndrome +   
Melhem Fahl Syndrome 
Melkersson-Rosenthal syndrome 
MEND SYNDROME  
Mengel Konigsmark Syndrome 
meningitis +   
meningoencephalitis +   
Menkes disease +   
Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities 
Merlob Grunebaum Reisner Syndrome 
MERRF Syndrome +   
MERRF/MELAS Overlap Syndrome  
Mesomelia-Synostoses Syndrome 
Metabolic Skin Diseases +   
Metabolic Syndrome +   
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa  
Metatarsalgia +  
Methionine Malabsorption Syndrome 
Meyenburg-Altherr-Uehlinger Syndrome 
Michelin Tire Baby Syndrome +   
Michels Caskey Syndrome 
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly Albinism Digital Anomalies Syndrome 
microcephaly and chorioretinopathy 1 +   
microcephaly and chorioretinopathy 2  
microcephaly and chorioretinopathy 3  
Microcephaly Deafness Syndrome 
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS  
Microcephaly, Epilepsy, and Diabetes Syndrome  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 
Microcephaly-Capillary Malformation Syndrome  
Microcephaly-Micromelia Syndrome  
Microphthalmia, Cataracts, and Iris Abnormalities  
Microphthalmia, Isolated, with Cataract 4 
Microphthalmia, Syndromic 2  
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME  
middle lobe syndrome  
Miles-Carpenter syndrome  
miliaria +  
Milner Khallouf Gibson Syndrome 
Mirhosseini-Holmes-Walton Syndrome 
Mirizzi Syndrome 
Mitchell-Riley Syndrome  
mitochondrial DNA depletion syndrome 8A  
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
mixed connective tissue disease  
Mobius syndrome +   
Mollica Pavone Antener Syndrome 
Moloney Syndrome 
MOMES Syndrome 
mongolian spot 
monofixation syndrome 
Mononen-Karnes-Senac syndrome 
Morgellons Disease 
Morillo-Cucci Passarge Syndrome 
MORM Syndrome  
mosaic variegated aneuploidy syndrome 1  
mosaic variegated aneuploidy syndrome 2  
Mousa Al din Al Nassar Syndrome 
movement disease +   
Mowat-Wilson syndrome  
MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME  
Muenke syndrome  
Muir-Torre syndrome  
Muller Barth Menger Syndrome 
Multicentric Carpotarsal Osteolysis Syndrome  
multicentric reticulohistiocytosis 
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly  
multiple chemical sensitivity  
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome +   
multiple cutaneous and mucosal venous malformations  
Multiple Hamartoma Syndrome +   
Multiple Mitochondrial Dysfunctions Syndrome +   
multiple pterygium syndrome +   
multiple synostoses syndrome +   
multiple system atrophy +   
Multisystemic Smooth Muscle Dysfunction Syndrome  
Mungan Syndrome  
Murine Acquired Immunodeficiency Syndrome  
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 
Muscular Dystrophy, Congenital, Infantile with Cataract and Hypogonadism 
myelodysplastic syndrome +   
MYH-9 related disease +   
myofascial pain syndrome +   
myofibrillar myopathy 2  
Myopathy, Cataract, Hypogonadism Syndrome 
Myopia, High, with Cataract and Vitreoretinal Degeneration  
myotonic cataract 
N syndrome  
Nablus Mask-Like Facial Syndrome 
Naegeli Syndrome  
Naguib-Richieri-Costa Syndrome 
nail disease +   
nail-patella syndrome +   
Nakajo Syndrome  
Nakamura Osame syndrome 
Nance-Horan syndrome  
Nasodigitoacoustic Syndrome  
Nasopalpebral Lipoma Coloboma Syndrome  
Nathalie Syndrome 
necrobiosis lipoidica 
Necrobiotic Disorders +  
Necrolytic Migratory Erythema 
Nelson syndrome 
neonatal abstinence syndrome 
neonatal period electroclinical syndrome +   
Nephrogenic Fibrosing Dermopathy  
Nephropathy Deafness Hyperparathyroidism 
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness  
nephrotic syndrome +   
nerve compression syndrome +   
Nestor-Guillermo Progeria Syndrome  
Netherton syndrome  
Neuhauser Daly Magnelli Syndrome 
Neuhauser Eichner Opitz Syndrome 
Neuhauser Syndrome 
Neurocutaneous Syndromes +   
neurodegenerative disease +   
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION  
NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS  
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 
Neurofaciodigitorenal Syndrome 
Neurofibromatosis-Noonan Syndrome  
neurogenic arthropathy +   
NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE  
neuronitis 
Neuropathy Ataxia and Retinitis Pigmentosa  
Neurosarcoidosis 
Neutropenic Enterocolitis  
Neutrophil Immunodeficiency Syndrome  
nevoid basal cell carcinoma syndrome +   
Newfoundland cone-rod dystrophy  
NF1 Microduplication Syndrome 
Nguyen Syndrome 
Nicolaides Baraitser Syndrome  
Nicolau Syndrome 
Nievergelt Syndrome 
Nijmegen breakage syndrome +   
Nisch syndrome  
Noble Bass Sherman Syndrome 
Nodding Syndrome 
Non Ketotic Hyperglycinemia Syndrome 
noninfectious dermatoses of eyelid +  
Nonkeratan-Sulfate-Excreting Morquio Syndrome 
Nonsyndromic Sensorineural Hearing Loss  
Noonan Like Syndrome +   
Noonan syndrome +   
Norman-Roberts syndrome  
Novak Syndrome 
O'Donnell Pappas Syndrome  
Obesity Hypoventilation Syndrome 
Occipital Horn Syndrome  
ocular albinism with sensorineural deafness  
ocular motility disease +   
oculoauricular syndrome  
Oculoauriculofrontonasal syndrome 
Oculocerebrocutaneous Syndrome 
oculocerebrorenal syndrome +   
Oculodental Syndrome Rutherfurd Syndrome 
oculodentodigital dysplasia +   
Oculootoradial Syndrome  
Oculopalatocerebral Syndrome 
Oculorenocerebellar Syndrome 
Oculotrichodysplasia 
odontoclasia 
Odontoma Dysphagia Syndrome 
Odontotrichoungual-Digital-Palmar Syndrome 
Ogden syndrome  
Ohdo syndrome +   
OI/EDS Combined Syndrome  
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME  
Oligodontia-Colorectal Cancer Syndrome  
Oliver Syndrome 
Oliver-McFarlane Syndrome  
Ollier disease  
Omenn syndrome  
Onat Syndrome 
Opitz Reynolds Fitzgerald syndrome 
Opitz Trigonocephaly Syndrome  
Opitz-GBBB syndrome +   
Opsoclonus-Myoclonus Syndrome +   
Optic Atrophy 1 and Deafness  
Optic Atrophy and Cataract, Autosomal Dominant  
Optic Atrophy Spastic Paraplegia Syndrome 
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 
ornithine translocase deficiency  
orofaciodigital syndrome +   
Orstavik Lindemann Solberg Syndrome  
Osebold Skeletal Dysplasia Osteolysis Syndrome 
Oslam syndrome 
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
Osteopenic Nonfracture Syndrome  
osteoporosis-pseudoglioma syndrome  
Otodental Dysplasia 
Otofacioosseous-Gonadal Syndrome 
Otoonychoperoneal Syndrome 
otospondylomegaepiphyseal dysplasia  
otulipenia  
ovarian hyperstimulation syndrome  
Pagon Stephan Syndrome 
Paine Syndrome 
Palant Cleft Palate Syndrome 
palindromic rheumatism 
Pallidal Degeneration, Progressive, with Retinitis Pigmentosa 
Pallister Killian Syndrome 
Pallister W Syndrome 
Pallister-Hall syndrome +   
Palmer Pagon Syndrome 
Palmoplantar Keratoderma with Deafness  
Pancoast tumor +  
Papulosquamous Skin Diseases +   
Paragangliomas with Sensorineural Hearing Loss  
Parana Hard Skin Syndrome 
Paraneoplastic Syndromes +   
paraplegia +   
PARC Syndrome 
Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome  
Partial Duplication 15q Syndrome 
partial fetal alcohol syndrome 
Partial Trisomy 3q Syndrome 
Partington Anderson Syndrome 
Partington syndrome  
Pascual Castroviejo Syndrome 
Pashayan Syndrome 
Patau syndrome 
Patel Bixler Syndrome 
patellofemoral pain syndrome 
Patterson Pseudoleprechaunism Syndrome 
Patterson Stevenson Syndrome +   
Pavone Fiumara Rizzo Syndrome 
Pearson syndrome  
peeling skin syndrome +   
PEHO Syndrome  
Pellagra like Syndrome 
Pendred syndrome  
Penttinen-Aula Syndrome  
periodic limb movement disorder 
Peripheral Cone Dystrophy 
Perisylvian Syndrome +   
Perlman syndrome  
Perniola Krajewska Carnevale Syndrome 
Perrault syndrome +   
Perry syndrome  
persian gulf syndrome  
persistent fetal circulation syndrome  
persistent Mullerian duct syndrome  
Peters Anomaly with Cataract 
Peters plus syndrome  
Petty Laxova Wiedemann Syndrome 
Peutz-Jeghers syndrome  
PFAPA Syndrome  
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Palm Teller Syndrome 
Pfeiffer Rockelein Syndrome 
Pfeiffer Tietze Welte Syndrome 
phaeohyphomycosis +  
PHARC syndrome  
Pheochromocytoma Islet Cell Tumor Syndrome 
photosensitivity disease +   
Piepkorn Karp Hickok syndrome 
Pierpont syndrome  
pigment dispersion syndrome  
Pigmentary Retinopathy and Sensorineural Deafness  
pigmentation disease +   
PILAROWSKI-BJORNSSON SYNDROME  
Pilotto Syndrome 
Pinheiro Freire-Maia Miranda Syndrome 
Piriformis Muscle Syndrome +  
Pitt-Hopkins syndrome +   
Pituitary Stalk Interruption Syndrome  
Piussan Lenaerts Mathieu syndrome 
Plica syndrome 
Plummer-Vinson Syndrome  
Pneumocephalus 
Podder-Tolmie Syndrome 
POEMS syndrome 
Pointer Syndrome 
Poland syndrome 
Polycystic Kidney, Cataract, and Congenital Blindness 
polycystic ovary syndrome +   
Polydactyly Myopia Syndrome 
Polyendocrine-Polyneuropathy Syndrome  
polymyalgia rheumatica  
Polyosteolysis-Hyperostosis Syndrome 
popliteal pterygium syndrome +   
Porcine Postweaning Multisystemic Wasting Syndrome 
Porcine Reproductive and Respiratory Syndrome 
PORETTI-BOLTSHAUSER SYNDROME  
post-cardiac arrest syndrome 
Post-Concussion Syndrome 
post-thrombotic syndrome 
postcholecystectomy syndrome 
Posterior Column Ataxia with Retinitis Pigmentosa  
Posterior Leukoencephalopathy Syndrome  
posterior polar cataract  
postgastrectomy syndrome +  
Postpericardiotomy Syndrome 
postpoliomyelitis syndrome 
Postthrombotic Syndrome 
postural orthostatic tachycardia syndrome  
Potter's syndrome 
Poult Enteritis Mortality Syndrome 
Powell Chandra Saal Syndrome 
Powell Venencie Gordon syndrome 
Ppm-X Syndrome 
Prader-Willi syndrome +   
Prader-Willi-Like Syndrome  
Prata Libéral Gonçalves Syndrome 
Pre-Excitation Syndromes +   
Preeyasombat Varavithya Syndrome 
Premature Aging, Okamoto Type 
Premature Atherosclerosis, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
Premature Ovarian Failure 10  
Presbycusis +   
Presumed Ocular Histoplasmosis Syndrome  
Prieto syndrome 
primary hypertrophic osteoarthropathy +   
primary immunodeficiency disease +   
Primrose Syndrome  
Progressive Hearing Loss Stapes Fixation  
Progressive Nephropathy with Deafness 
progressive pseudorheumatoid arthropathy of childhood  
Propofol Infusion Syndrome 
Proud Syndrome  
proximal symphalangism  
prune belly syndrome +   
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 
Prurigo  
Pruritus +   
Pseudo-Zellweger Syndrome 
Pseudoaminopterin Syndrome 
Pseudoatrophoderma Colli 
pseudobulbar palsy +  
Pseudotrisomy 13 Syndrome 
psoriatic arthritis  
Qazi Markouizos syndrome 
quadriplegia +   
Radio Renal Syndrome 
Radioulnar Synostosis Retinal Pigment Abnormalities 
RAHMAN SYNDROME  
Raine Syndrome  
Rajab Syndrome  
Rambaud Galian Syndrome 
Ramon Syndrome 
Ramos Arroyo Clark Syndrome 
Rapp-Hodgkin syndrome  
Rasmussen Johnsen Thomsen Syndrome 
Ray Peterson Scott Syndrome 
reactive cutaneous fibrous lesion +  
Reardon Hall Slaney syndrome 
Reardon Wilson Cavanagh Syndrome 
Recombinant Chromosome 8 Syndrome 
Refeeding Syndrome 
Reginato Schiapachasse Syndrome 
renal coloboma syndrome  
Renal Dysplasia - Limb Defects Syndrome 
Renal Nutcracker Syndrome 
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness  
restless legs syndrome +   
Retinal Cone Dystrophy 3A  
Retinal Cone Dystrophy 3B  
Retinal Cone Dystrophy 4  
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT  
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome  
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
retinitis pigmentosa 1  
retinitis pigmentosa 10  
retinitis pigmentosa 11  
retinitis pigmentosa 12  
retinitis pigmentosa 13  
retinitis pigmentosa 14  
retinitis pigmentosa 17  
retinitis pigmentosa 18  
retinitis pigmentosa 19  
retinitis pigmentosa 2  
retinitis pigmentosa 20  
retinitis pigmentosa 22 
retinitis pigmentosa 23  
retinitis pigmentosa 24 
retinitis pigmentosa 25  
retinitis pigmentosa 26  
retinitis pigmentosa 27  
retinitis pigmentosa 28  
retinitis pigmentosa 29 
retinitis pigmentosa 3  
retinitis pigmentosa 30  
retinitis pigmentosa 31  
retinitis pigmentosa 32 
retinitis pigmentosa 33  
retinitis pigmentosa 34 
retinitis pigmentosa 35  
retinitis pigmentosa 36  
retinitis pigmentosa 37  
retinitis pigmentosa 38  
retinitis pigmentosa 39  
retinitis pigmentosa 4  
retinitis pigmentosa 40  
retinitis pigmentosa 41  
retinitis pigmentosa 42  
retinitis pigmentosa 43  
retinitis pigmentosa 44  
retinitis pigmentosa 45  
retinitis pigmentosa 46  
retinitis pigmentosa 47  
retinitis pigmentosa 48  
retinitis pigmentosa 49  
retinitis pigmentosa 50  
retinitis pigmentosa 51  
retinitis pigmentosa 54  
retinitis pigmentosa 55  
retinitis pigmentosa 56  
retinitis pigmentosa 57  
retinitis pigmentosa 58  
retinitis pigmentosa 59  
retinitis pigmentosa 6 
retinitis pigmentosa 60  
retinitis pigmentosa 61  
retinitis pigmentosa 62  
retinitis pigmentosa 63 
retinitis pigmentosa 66  
retinitis pigmentosa 67  
retinitis pigmentosa 68  
retinitis pigmentosa 69  
retinitis pigmentosa 7  
Retinitis Pigmentosa 7 with Bull'S-Eye Maculopathy  
Retinitis Pigmentosa 7, Digenic  
retinitis pigmentosa 70  
retinitis pigmentosa 71  
retinitis pigmentosa 72  
retinitis pigmentosa 73  
retinitis pigmentosa 74  
retinitis pigmentosa 75  
Retinitis Pigmentosa 76  
retinitis pigmentosa 77  
RETINITIS PIGMENTOSA 78  
RETINITIS PIGMENTOSA 79  
RETINITIS PIGMENTOSA 80  
retinitis pigmentosa 81  
retinitis pigmentosa 9  
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS  
Retinitis Pigmentosa Inversa with Deafness 
retinitis pigmentosa with or without situs inversus  
Retinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium 
retinitis pigmentosa Y-linked 
Retinitis Pigmentosa, Concentric  
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 
Retinitis Pigmentosa, Late-Onset Dominant  
retinitis pigmentosa-deafness syndrome  
Retinohepatoendocrinologic Syndrome 
Rett syndrome +   
Revesz syndrome  
Reye syndrome  
Reynolds Syndrome  
Rh deficiency syndrome  
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 
Rhizomelic Syndrome 
RHYNS Syndrome 
Richards-Rundle Syndrome 
Richieri Costa Da Silva Syndrome 
Richieri Costa Guion-Almeida Syndrome 
Richieri Costa Pereira Syndrome  
Richter's syndrome 
Ridges-off-the-end Syndrome 
Riley-Day syndrome +   
Ring Chromosome 14 Syndrome 
Ring Chromosome 20 Syndrome 
Ring Chromosome 4 Syndrome 
Roberts syndrome  
Robinow Sorauf Syndrome  
Robinow syndrome +   
Robinson Miller Bensimon Syndrome 
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 
Roifman Syndrome  
Roifman-Chitayat Syndrome 
Romano-Ward Syndrome +   
Rombo syndrome 
Rommen Mueller Sybert Syndrome 
root caries  
rosacea +   
Rosenthal-Kloepfer Syndrome 
Rosselli-Gulienetti Syndrome 
Rothmund-Thomson syndrome +   
Rowley-Rosenberg Syndrome 
Roy Maroteaux Kremp Syndrome 
Rozin Hertz Goodman Syndrome 
Rubinstein Taybi like Syndrome 
Rubinstein-Taybi syndrome +   
Rud Syndrome 
Rudd Klimek Syndrome 
Rudiger Syndrome 
Ruijs-Aalfs Syndrome  
Ruvalcaba Churesigaew Myhre Syndrome 
Ruvalcaba Syndrome 
Ruzicka Goerz Anton syndrome 
Saal Bulas Syndrome 
Sabinas Brittle Hair Syndrome 
Sackey Sakati Aur Syndrome 
Sacral Agenesis Syndrome 
Saito Kuba Tsuruta Syndrome 
Sakati-Nyhan syndrome 
Salcedo Syndrome 
salt and pepper syndrome  
Sammartino De Crecchio Syndrome 
Samson Gardner Syndrome 
Samson Viljoen Syndrome 
Sanderson Fraser Syndrome 
Sandhaus Ben-Ami Syndrome 
Sandifer Syndrome 
Santos Mateus Leal Syndrome 
Santos Syndrome 
Sao Paulo MCA/MR Syndrome 
SAPHO syndrome 
Satoyoshi Syndrome 
Saul Wilkes Stevenson syndrome 
Say Barber Miller Syndrome 
Say Field Coldwell syndrome 
Say Meyer Syndrome 
Say Syndrome 
SC phocomelia syndrome  
scalp dermatosis +   
Scalp Ear Nipple Syndrome  
SCARF Syndrome 
Schaap Taylor Baraitser Syndrome 
Schaefer Stein Oshman Syndrome 
Scheie syndrome  
Schimke X-Linked Mental Retardation Syndrome 
Schinzel-Giedion Syndrome  
Schlegelberger Grote Syndrome 
Schmid-Fraccaro Syndrome 
Schnitzler syndrome  
Schofer Beetz Bohl Syndrome 
Scholte Syndrome 
Schopf-Schulz-Passarge Syndrome  
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Schuurs-Hoeijmakers syndrome  
Schwartz Cohen-Addad Lambert Syndrome 
Schwartz-Lelek syndrome  
Schweitzer Kemink Graham Syndrome 
scimitar syndrome +   
Scott Bryant Graham Syndrome 
Scott syndrome  
sea-blue histiocyte syndrome  
seasonal affective disorder 
Seaver Cassidy Syndrome 
sebaceous gland disease +   
Sebaceous Nevus of Jadassohn +   
Seckel syndrome +   
Second Metatarsal-Metacarpal Syndrome 
secondary hypertrophic osteoarthropathy 
Seemanova Lesny Syndrome 
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME  
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME  
Selig Benacerraf Greene Syndrome 
Sener Syndrome 
Sengers syndrome  
senile cataract +   
Senior-Loken syndrome +   
Senior-Loken Syndrome 4  
Sensorineural Deafness and Male Infertility  
Sensorineural Deafness and Migraine  
Sensorineural Deafness with Hypertrophic Cardiomyopathy  
Sensorineural Deafness with Mild Renal Dysfunction  
Sensorineural Deafness with Peripheral Neuropathy and Arterial Disease 
Sensorineural Deafness, Autosomal-Mitochondrial Type  
Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth 
Seow Najjar Syndrome 
Seres-Santamaria Arimany Muniz Syndrome 
Serotonin Syndrome 
Sertoli cell-only syndrome +   
SESSILE SERRATED POLYPOSIS CANCER SYNDROME  
severe acute respiratory syndrome  
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration 
Sezary's disease  
Shaheen Syndrome  
Shaken Baby Syndrome 
Shapiro Syndrome 
Sharma Kapoor Ramji Syndrome 
SHASHI-PENA SYNDROME  
Sheehan syndrome 
short bowel syndrome  
short QT syndrome +   
Short Stature and Locking Fingers 
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES  
Short Stature-Obesity Syndrome 
SHORT Syndrome  
short-rib thoracic dysplasia 9 with or without polydactyly  
shoulder impingement syndrome 
Shprintzen Omphalocele Syndrome 
Shwachman-Diamond syndrome  
Shy-Drager Syndrome  
sick building syndrome  
sick sinus syndrome +   
Siegler Brewer Carey Syndrome 
SIFRIM-HITZ-WEISS SYNDROME  
Silengo Lerone Pelizza Syndrome 
Sillence Syndrome 
Silver-Russell syndrome +   
Simian Acquired Immunodeficiency Syndrome 
Simosa Cranio Facial Syndrome 
Simpson-Golabi-Behmel syndrome  
Singh Chhaparwal Dhanda Syndrome 
Singleton Merten Syndrome +   
SINGLETON-MERTEN SYNDROME 2  
Sinus Tarsi Syndrome 
Sjogren's syndrome +   
Sjogren-Larsson syndrome +   
Sjogren-Larsson-like Syndrome 
Sjögren-Mikulicz Syndrome  
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal 
Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa 
Skin Abnormalities +   
skin atrophy 
Skin Fragility-Woolly Hair Syndrome  
Skin Neoplasms +   
skin sarcoidosis 
Skraban-Deardorff Syndrome  
Slavotinek Pike Mills Hurst Syndrome 
Slit Ventricle Syndrome 
Slti Salem Syndrome 
Sly syndrome  
Small-For-Size Syndrome  
Smith-Kingsmore Syndrome  
Smith-Lemli-Opitz syndrome +   
Sneddon syndrome  
Sohval Soffer Syndrome 
Sonoda Syndrome 
Sotos syndrome +   
Spastic Paraplegia and Evans Syndrome 
Spastic Paraplegia with Kallmann Syndrome 
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 
spinal cord disease +   
split hand-foot malformation 1 with sensorineural hearing loss  
SPOAN syndrome  
spondylocarpotarsal synostosis syndrome  
spondyloepimetaphyseal dysplasia, Strudwick type  
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy  
Spondyloocular Syndrome, Autosomal Recessive  
Spranger Schinzel Myers Syndrome 
STANKIEWICZ-ISIDOR SYNDROME  
Steel Syndrome  
Steinfeld Syndrome 
Stern Lubinsky Durrie Syndrome 
Stevens-Johnson syndrome  
Stevenson-Carey Syndrome 
Stewart Treves Syndrome 
Stickler syndrome +   
Stiff Skin Syndrome  
Stiff-Person syndrome  
Stocco dos Santos Syndrome  
Stoelinga de Koomen Davis Syndrome 
Stoll Alembik Dott Syndrome 
Stoll Levy Francfort Syndrome 
Storm Syndrome 
Stormorken syndrome  
Stratton-Parker Syndrome 
Stromme syndrome  
strongyloidiasis  
Structural Heart Defects and Renal Anomalies Syndrome  
Stuve-Wiedemann Syndrome  
subclavian steal syndrome 
sudden infant death syndrome +   
Sudden Unexpected Nocturnal Death Syndrome 
Summitt Syndrome 
SUNCT Syndrome 
superior mesenteric artery syndrome +  
Superior Vena Cava Syndrome  
supine hypotensive syndrome 
Susac Syndrome 
sweat gland disease +   
SWEENEY-COX SYNDROME  
Sweet Syndrome  
Syndactyly-Polydactyly-Earlobe Syndrome 
syndromic X-linked intellectual disability Abidi type 
syndromic X-linked intellectual disability Lubs type  
syndromic X-linked intellectual disability Siderius type  
synovitis +   
Systemic Inflammatory Response Syndrome +   
systemic scleroderma +   
Tabatznik Syndrome 
Takao VCF Syndrome 
Takayasu's arteritis  
Takenouchi-Kosaki Syndrome  
Tamari Goodman Syndrome 
Tang Hsi Ryu Syndrome 
Tapetoretinal Degeneration with Ataxia 
TARP Syndrome  
TATTON-BROWN-RAHMAN SYNDROME  
Taylor's syndrome 
Teebi Kaurah Syndrome 
Teebi Naguib Al Awadi syndrome 
Teebi Shaltout Syndrome 
Teebi Syndrome 
Tel Hashomer Camptodactyly Syndrome 
Telfer Sugar Jaeger Syndrome 
Telomeric 22q13 Monosomy Syndrome  
Temple-Baraitser syndrome  
Temporomandibular Joint Disorders +   
Temporomandibular Joint Dysfunction Syndrome  
temtamy preaxial brachydactyly syndrome  
Temtamy Syndrome  
Tenorio Syndrome  
Ter Haar Syndrome  
tetanic cataract 
tethered spinal cord syndrome 
Tetraphocomelia-Thrombocytopenia Syndrome 
Thai Symphalangism Syndrome 
Thakker Donnai Syndrome 
THAUVIN-ROBINET-FAIVRE SYNDROME  
Theodor Hertz Goodman Syndrome 
thiamine-responsive megaloblastic anemia syndrome  
Thomas Jewett Raines Syndrome 
Thomas Syndrome 
Thompson Baraitser Syndrome 
Thoracic Dysplasia-Hydrocephalus Syndrome 
Thrombocytopenia Absent Ulnar Syndrome 
Thyrocerebral-Retinal Syndrome 
thyroid hormone resistance syndrome +   
Tietz syndrome  
Tietze's syndrome  
Timothy syndrome  
Tn Syndrome  
Tollner Horst Manzke Syndrome 
Tolosa-Hunt syndrome +  
Tonoki Syndrome 
tooth and nail syndrome  
Townes-Brocks syndrome  
TOWNES-BROCKS SYNDROME 2  
Townes-Brocks-Branchiootorenal-Like Syndrome  
toxic encephalopathy +   
Tranebjaerg Svejgaard syndrome 
transient global amnesia 
Transient Myeloproliferative Disorder of Down Syndrome  
Treft Sanborn Carey Syndrome 
Tricho-Dento-Osseous Syndrome  
Trichodental Syndrome 
Trichohepatoenteric Syndrome  
Trichorhinophalangeal Syndrome +   
Trichorrhexis Nodosa Syndrome 
Trichothiodystrophy Syndromes +   
trigeminal neuralgia  
Triple X Syndrome 
triple-A syndrome  
Trisomy 18-Like Syndrome 
Trisomy 22 Mosaicism Syndrome 
Trueb Burg Bottani Syndrome 
Tsukahara Syndrome 
Tucker Syndrome 
Tukel Syndrome 
Tumor Lysis Syndrome  
Tumor Predisposition Syndrome  
Tunglang Savage Bellman Syndrome 
Turcot Syndrome  
Turner syndrome +   
tyrosinemia type II  
Ulna Metaphyseal Dysplasia Syndrome 
Ulnar Nerve Compression Syndromes +  
ulnar-mammary syndrome  
Uncombable Hair Syndrome +   
Upton Young Syndrome 
Urban Schosser Spohn Syndrome 
urethral syndrome 
Urioste Martinez-Frias Syndrome 
urofacial syndrome +   
urticaria +   
Uruguay Faciocardiomusculoskeletal Syndrome  
Usher syndrome +   
UV-sensitive syndrome +   
VACTERL association  
Van Bogaert-Hozay Syndrome 
Van Den Bosch Syndrome 
Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome 
Van der Woude syndrome +   
Van Maldergem syndrome +   
vascular skin disease +   
Vasquez Hurst Sotos Syndrome 
Velofacioskeletal Syndrome 
Verheij Syndrome  
Verloes Gillerot Fryns Syndrome 
Verloes Van Maldergem Marneffe Syndrome 
Verloove-Vanhorick Brubakk Syndrome 
verruciform xanthoma of skin 
vertebral artery insufficiency 
vertebrobasilar insufficiency +  
VERVERI-BRADY SYNDROME  
vesiculobullous skin disease +   
Vici syndrome  
Viljoen Kallis Voges Syndrome 
visceral heterotaxy +   
Vogt-Koyanagi-Harada disease  
Vohwinkel Syndrome  
Volcke Soekarman Syndrome 
Waaler Aarskog Syndrome 
Waardenburg's syndrome +   
Walbaum Titran Durieux Crepin Syndrome 
Walker Dyson Syndrome 
Walker-Warburg syndrome +   
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome 
Warfarin Syndrome 
Warsaw breakage syndrome  
Wasting Syndrome +   
Waterhouse-Friderichsen syndrome +  
Watson Syndrome  
Weaver syndrome  
Wegener's granulomatosis +   
Weill-Marchesani syndrome +   
Weinstein Kliman Scully Syndrome 
Weismann Netter Syndrome 
Weissenbacher-Zweymuller syndrome +   
Wellesley Carmen French Syndrome 
Wells Jankovic Syndrome 
Wells Syndrome 
Werner syndrome +   
Wernicke-Korsakoff syndrome 
Weyers Ulnar Ray/Oligodactyly Syndrome 
White Platelet Syndrome 
White-Sutton syndrome  
Whyte Murphy Fallon Sly syndrome 
Whyte Murphy Syndrome 
Widow's Peak Syndrome 
Wiedemann Grosse Dibbern Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
Williams-Beuren Region Duplication Syndrome 
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome 
Wilson-Turner syndrome  
Winchester Syndrome  
Winkelman Bethge Pfeiffer Syndrome  
Winship Viljoen Leary Syndrome 
Winter Harding Hyde Syndrome 
Winter Shortland Temple Syndrome  
Wissler's syndrome 
Wittwer Syndrome 
Wolcott-Rallison syndrome  
Wolff-Parkinson-White syndrome  
Wolfram syndrome +   
Wolfram syndrome 2  
Wolfram Syndrome, Mitochondrial Form 
Woodhouse Sakati Syndrome  
Woods Black Norbury Syndrome 
Woods Leversha Rogers Syndrome 
Worster Drought Syndrome  
Worth Syndrome  
Wright Dyck Syndrome 
Wrinkly Skin Syndrome  
WT Limb Blood Syndrome 
Wyburn Mason's Syndrome 
X-linked cone-rod dystrophy 1  
X-linked cone-rod dystrophy 2 
X-linked cone-rod dystrophy 3  
X-linked nonsyndromic deafness +   
X-Linked Retinitis Pigmentosa, and Sinorespiratory Infections, with or without Deafness  
Xia-Gibbs syndrome  
yellow nail syndrome +  
Yemenite Deaf-Blind Hypopigmentation Syndrome 
Yim Ebbin Syndrome 
Yorifuji Okuno Syndrome 
YOU-HOOVER-FONG SYNDROME  
Young Hughes Syndrome 
Young Syndrome 
Yunis-Varon syndrome  
Zadik Barak Levin Syndrome 
Zazam Sheriff Phillips Syndrome 
Zechi-Ceide Syndrome 
Zellweger syndrome +   
Zerres Rietschel Majewski Syndrome 
Zika virus congenital syndrome 
Zimmerman Laband Syndrome  
Zonular Cataract and Nystagmus 
Zori Stalker Williams Syndrome 
ZTTK Syndrome  
Zunich Neuroectodermal Syndrome  

Synonyms
Primary IDs: MESH:C537066
Alternate IDs: OMIM:136300 ;   RDO:0002833

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