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Term:
Elliott Ludman Teebi Syndrome (DOID:9007580)
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Parent Terms Term With Siblings Child Terms
skin disease +     
syndrome +     
16p11.2 deletion syndrome 
16Q24.3 microdeletion syndrome  
22q11 Deletion Syndrome +   
3-methylglutaconic aciduria type 4 
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  
3MC syndrome +   
3p- syndrome 
47, XYY Syndrome 
49,XXXXX syndrome 
5-nucleotidase syndrome 
7p2 Monosomy Syndrome 
Aagenaes syndrome 
Aarskog syndrome +   
Aase Smith syndrome 
ABCD syndrome  
Abderhalden-Kaufmann-Lignac Syndrome 
abdominal obesity-metabolic syndrome +   
ablepharon macrostomia syndrome  
Abruzzo Erickson syndrome  
Absent Eyebrows and Eyelashes with Mental Retardation 
Abuse Dwarfism Syndrome 
Achard syndrome 
Achard-Thiers Syndrome 
Achenbach syndrome 
Ackerman Syndrome 
Acneiform Eruptions +   
acquired immunodeficiency syndrome +   
acrocallosal syndrome +   
Acrocephalopolydactylous Dysplasia 
acrodysostosis +   
Acromegaloid Facial Appearance Syndrome 
Acromegaloid features, overgrowth, cleft palate, and hernia 
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 +   
Adie syndrome +  
adolescence-adult electroclinical syndrome +   
Adrenogenital Syndrome +   
adult respiratory distress syndrome  
ADULT syndrome  
AGAT deficiency  
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency  
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  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
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 +   
Aloi Tomasini Isaia Syndrome 
Alopecia Contractures Dwarfism Mental Retardation 
Alopecia Epilepsy Oligophrenia Syndrome of Moynahan 
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome  
Alopecia-Mental Retardation Syndrome 1  
Alopecia-Mental Retardation Syndrome 2 
Alopecia-Mental Retardation Syndrome 3 
Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 
alpha thalassemia-intellectual disability syndrome type 1 
alpha thalassemia-X-linked intellectual disability syndrome  
Alpha-Thalassemia Myelodysplasia Syndrome  
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 
Alsing Syndrome 
Alstrom syndrome  
Alves Castelo dos Santos syndrome 
Amastia, Bilateral, with Ureteral Triplication and Dysmorphism 
Ameloonychohypohidrotic Syndrome 
amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis 
Amniotic Band Syndrome +  
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 
amyotrophic dystonic paraplegia 
androgen insensitivity syndrome +   
Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/Mental Retardation Syndrome 
Angelman syndrome +   
Angelucci's syndrome 
angioedema +   
Aniridia cerebellar ataxia mental deficiency  
Anisomastia 
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
Anophthalmia Plus Syndrome 
Ansell Bywaters Elderking syndrome 
anterior spinal artery syndrome 
Anticholinergic Syndrome 
antiphospholipid syndrome +   
Antisynthetase Syndrome 
aortic arch anomaly with peculiar facies and mental retardation 
Aortic Arch Syndromes +   
Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal IV 
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  
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation, and Facial Anomalies 
arthrogryposis, mental retardation, and seizures  
Arts syndrome  
aseptic meningitis  
Asperger syndrome +   
asphyxiating thoracic dystrophy +   
Asrar Facharzt Haque Syndrome 
Astley-Kendall Syndrome 
Asymmetric Short Stature Syndrome 
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION  
Ataxia-Microcephaly-Cataract Syndrome 
Atkin syndrome  
atrioventricular septal defect, partial, with heterotaxy syndrome  
Atypical Hemolytic Uremic Syndrome  
Au-Kline Syndrome  
Aughton syndrome 
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 
Auriculo-condylar syndrome  
Ausems Wittebol-Post Hennekam Syndrome 
Autonomic Dysreflexia 
Autosomal Dominant Compelling Helio Ophthalmic Outburst Syndrome 
autosomal dominant keratitis-ichthyosis-deafness syndrome  
autosomal dominant mental retardation 22  
autosomal dominant Robinow syndrome 3  
autosomal recessive cutis laxa type III +   
autosomal recessive early-onset Parkinson disease 15  
autosomal recessive limb-girdle muscular dystrophy type 2P  
autosomal recessive spinocerebellar ataxia 12  
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
Axenfeld-Rieger syndrome +   
Axial Mesodermal Dysplasia Spectrum 
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  
Bamforth syndrome  
Bangstad Syndrome 
Banki Syndrome 
Bannayan-Riley-Ruvalcaba syndrome  
Banti's Syndrome  
Baraitser Brett Piesowicz Syndrome 
Baraitser Rodeck Garner syndrome 
Barakat syndrome  
Barber Say syndrome  
Bardet-Biedl syndrome +   
Barre-Lieou syndrome 
Bart-Pumphrey syndrome  
Barth syndrome +   
Bartter syndrome +   
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 +   
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency  
Beta-Ureidopropionase Deficiency  
Bhaskar Jagannathan Syndrome 
Biemond syndrome II 
Birk-Barel syndrome  
BIRK-LANDAU-PEREZ SYNDROME  
Birt-Hogg-Dube syndrome  
Bjornstad syndrome  
Blau syndrome  
Blepharo-cheilo-dontic syndrome +   
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
Bloch-Sulzberger 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 
Borrone Di Rocco Crovato 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  
brachycephaly, trichomegaly, and developmental delay  
Brachydactyly, Intraventricular Septal Defect, and Deafness 
brachydactyly-syndactyly syndrome  
Brachymesomelia Renal Syndrome 
brachymorphism-onychodysplasia-dysphalangism syndrome 
brain-lung-thyroid syndrome  
branched-chain keto acid dehydrogenase kinase deficiency  
branchiogenic-deafness syndrome 
branchiooculofacial syndrome  
branchiootorenal syndrome +   
breast disease +   
Bresheck/Bresek Syndrome 
brittle cornea syndrome +   
Broad Terminal Phalanges, Familial 
Brooks-Wisniewski-Brown syndrome 
Brown-Sequard syndrome 
Brown-Vialetto-Van Laere syndrome +   
Bruck syndrome +   
Brugada syndrome +   
Brunner syndrome  
Brunoni Syndrome 
Budd-Chiari syndrome +   
Bullous Dystrophy, Hereditary Macular Type 
Burn-Mckeown syndrome  
Burnett Schwartz Berberian Syndrome +   
burning mouth syndrome +  
Buschke-Ollendorff Syndrome  
C syndrome  
CAHMR Syndrome 
Calabro Syndrome 
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 syndrome 
CAPOS Syndrome  
Cardio-Renal Syndrome  
Cardiocranial Syndrome 
cardiofaciocutaneous syndrome +   
Cardiomyopathy Hypogonadism Collagenoma Syndrome 
Carnevale Hernandez Castillo Syndrome 
Carney complex +   
Carney-Stratakis syndrome  
Carpenter syndrome +   
Carrington syndrome  
Cartilage Hair Hypoplasia Like Syndrome 
Cartwright Nelson Fryns Syndrome 
Cataract Microcornea Syndrome  
Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy 
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
Catel Manzke Syndrome  
Cauda equina syndrome 
Cayler Cardiofacial Syndrome  
CEDNIK syndrome  
cellulitis +   
Central Cord Syndrome 
Cephalin Lipidosis 
cerebellar ataxia, mental retardation and dysequlibrium syndrome +   
Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 
Cerebellofaciodental Syndrome  
cerebral cavernous malformation 2  
cerebral cavernous malformation 3  
cerebral creatine deficiency syndrome +   
Cerebral Visual Impairment and Intellectual Disability  
Cerebrocostomandibular Syndrome  
Cerebrofaciothoracic Dysplasia  
Cerebrofrontofacial Syndrome +   
cerebrooculofacioskeletal syndrome +   
cerebrooculofacioskeletal syndrome 2  
cerebrooculofacioskeletal syndrome 4  
Cerebrooculonasal Syndrome 
Cervical Rib Syndrome +  
Cervical Ribs Sprengel Anomaly Anal Atresia Urethral Obstruction 
Chandler syndrome 
Chang Davidson Carlson syndrome 
Char syndrome  
CHARGE syndrome  
Chediak-Higashi 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, Megarbane-Dagher-Melki Type  
chondrodysplasia-pseudohermaphroditism syndrome  
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 
CHOPS SYNDROME  
Choroid Plexus Calcification with Mental Retardation 
chromosomal deletion syndrome +   
chromosomal duplication syndrome +   
Chromosome 10q Duplication Syndrome 
Chromosome 11p Deletion Syndrome 
chromosome 13q deletion syndrome +  
chromosome 13q14 deletion syndrome 
chromosome 15q11.2 deletion syndrome 
chromosome 15q13.3 microdeletion syndrome  
chromosome 15q24 deletion syndrome  
chromosome 15q26-qter deletion syndrome 
chromosome 16p13.3 deletion syndrome 
chromosome 17p13.1 deletion syndrome 
chromosome 17q11.2 deletion syndrome, 1.4Mb 
chromosome 17q23.1-q23.2 deletion syndrome 
Chromosome 18 Pericentric Inversion 
chromosome 19q13.11 deletion syndrome 
Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb  
chromosome 1q21.1 duplication syndrome 
chromosome 22q11.2 deletion syndrome, distal 
chromosome 22q11.2 microduplication syndrome 
chromosome 22q13 duplication syndrome 
chromosome 2p16.1-p15 deletion syndrome 
CHROMOSOME 2p16.3 DELETION SYNDROME  
chromosome 2q31.2 deletion syndrome 
chromosome 2q32-q33 deletion syndrome  
Chromosome 2q37 Deletion Syndrome  
Chromosome 3 Duplication Syndrome 
chromosome 3q29 microdeletion syndrome 
Chromosome 4, 4q Terminal Deletion Syndrome 
Chromosome 4q- Syndrome 
chromosome 5p13 duplication syndrome 
chromosome 5q deletion syndrome  
Chromosome 6 Ring Syndrome 
Chromosome 7 Ring Syndrome 
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB 
chromosome 8q21.11 deletion syndrome 
Chromosome Xp11.3 Deletion Syndrome 
Chromosome Xq Duplication Syndrome 
CHROMOSOME Xq26.3 DUPLICATION SYNDROME  
Chromosome Xq28 Duplication Syndrome 
chronic atrial and intestinal dysrhythmia  
chronic fatigue syndrome  
Chudley-Mccullough syndrome  
Chudley-Rozdilsky syndrome 
Churg-Strauss syndrome  
ciliopathy +   
CINCA syndrome  
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 
COACH Syndrome  
Cockayne syndrome +   
cocoon syndrome  
CODAS Syndrome  
Coffin Syndrome 1 
Coffin-Lowry syndrome  
Coffin-Siris syndrome +   
Cogan syndrome +   
Cohen Syndrome  
Cohen-Gibson syndrome  
cold-induced sweating syndrome +   
Cole Carpenter syndrome +   
Cole-Carpenter Syndrome 1  
Coloboma, Cleft Lip/Palate and Mental Retardation Syndrome 
coloboma, uveal, with cleft lip and palate and mental retardation  
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 
compartment syndrome +   
complex regional pain syndrome +  
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY  
congenital central hypoventilation syndrome  
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER  
congenital hemidysplasia with ichthyosiform erythroderma and limb defects  
congenital muscular dystrophy with cataracts and intellectual disability  
congenital secretory sodium diarrhea 3  
Conn's syndrome 
Contiguous Abcd1/Dxs1375e Deletion Syndrome  
Convulsive Disorder, Familial, with Prenatal or Early Onset 
Corneal Cerebellar Syndrome 
Cornelia de Lange syndrome +   
Cornelia De Lange Syndrome 4  
Cornelia De Lange syndrome 5  
Corneodermatoosseous Syndrome 
Coronary-Subclavian Steal Syndrome 
Cortical Blindness, Retardation, and Postaxial Polydactyly 
Cortical Malformations, Occipital  
Costello syndrome  
Costocoracoid Ligament Congenitally Short 
Cote Katsantoni Syndrome 
COUSIN SYNDROME  
Cowden-Like Syndrome  
coxoauricular syndrome 
Cracked Tooth Syndrome 
Crane-Heise Syndrome 
Cranioacrofacial Syndrome 
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome  
Craniofacial Deafness Hand Syndrome  
Craniofaciofrontodigital Syndrome 
Craniofacioskeletal Syndrome 
Craniomicromelic Syndrome 
Craniosynostosis Mental Retardation Clefting Syndrome 
Craniosynostosis Syndrome, Autosomal Recessive  
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
Cree Mental Retardation Syndrome 
crescentic glomerulonephritis  
CREST syndrome  
Cri-du-Chat syndrome +   
Crigler-Najjar syndrome +   
Crisponi syndrome +   
Crome Syndrome 
Crumpled Helices and Small Mouth 
Crush Syndrome  
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
Cryopyrin-Associated Periodic Syndromes +   
cryptomicrotia brachydactyly syndrome 
Cubital Tunnel Syndrome 
Cubitus Valgus with Mental Retardation and Unusual Facies 
Culler-Jones 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 and Mental Deficiency 
Cyprus Facial Neuromusculoskeletal Syndrome 
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality 
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  
Deaf-Blind Disorders +   
deafness dystonia syndrome  
Deafness oligodontia syndrome 
Deafness, Cochlear, with Myopia and Intellectual Impairment  
Deafness, Congenital Onychodystrophy, Recessive Form 
deafness, nephritis, anorectal malformation 
Deafness, with Smith-Magenis Syndrome  
Deafness-Craniofacial Syndrome 
Deafness-Hypogonadism Syndrome 
deafness-intellectual disability, Martin-Probst type syndrome  
Deal Barratt Dillon Syndrome 
Delayed Cranial Ossification due to CBFB Haploinsufficiency 
dengue shock syndrome 
Dennis Fairhurst Moore Syndrome 
Denys-Drash syndrome  
Der Kaloustian Mcintosh Silver Syndrome 
Dermal Fibrosis  
Dermal Ridges, Nelson Syndrome 
dermatitis +   
Dermatoleukodystrophy 
dermatomyositis +   
Desanto-Shinawi Syndrome  
Desmosterolosis  
Devriendt syndrome 
Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 
Dianzani Autoimmune Lymphoproliferative Syndrome 
Diarrhea prodrome + Hemolytic-Uremic Syndrome 
dicarboxylic aminoaciduria  
diffuse infiltrative lymphocytosis syndrome 
Digitorenocerebral Syndrome  
Dincsoy Salih Patel Syndrome 
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
distal arthrogryposis, with mental retardation and characteristic facies 
Distal Trisomy 10q Syndrome 
DK Phocomelia Syndrome 
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 
Duchenne muscular dystrophy, mental retardation, and absence of ERG B-wave  
Duker Weiss Siber syndrome 
Duplication 4p Syndrome 
Dursun Syndrome  
dwarfism, low-birth-weight type, with unresponsiveness to growth hormone 
Dyggve-Melchior-Clausen disease +   
Dykes Markes Harper Syndrome 
dyskeratosis congenita +   
dyskinesias, seizures, and intellectual developmental disorder  
dysmyelination with jaundice 
dysplastic nevus syndrome  
Eagle Syndrome 
Early Infantile Epileptic Encephalopathy 9  
EAST syndrome  
Ectodermal Dysplasia +   
Ectodermal Dysplasia Mental Retardation Syndactyly 
Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum 
Ectodermal Dysplasia-Skin Fragility Syndrome  
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Ectrodactyly Cardiopathy Dysmorphism 
Ectrodactyly-Cleft Palate Syndrome 
Edict Syndrome  
Edinburgh Malformation Syndrome 
Edwards 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 
Emphysema, Congenital, with Deafness, Penoscrotal Web, and Mental Retardation 
empty sella syndrome +   
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
endocrine-cerebro-osteodysplasia syndrome  
endometriosis in scar of skin 
enhanced S-cone syndrome  
Enterocolitis, Neutropenic  
epidermal nevus +   
Epidermolysis bullosa, late-onset localized junctional, with mental retardation 
epidermolytic hyperkeratosis +   
Epilepsy Telangiectasia 
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION  
Epilepsy, Hearing Loss, and Mental Retardation Syndrome  
Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation 
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
Erythema +   
erythematosquamous dermatosis 
Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
euthyroid sick syndrome 
Evans syndrome +   
EVEN-PLUS SYNDROME  
exanthema +   
exfoliation syndrome  
Eyebrows Duplication of, with Stretchable Skin and Syndactyly 
FACES Syndrome 
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 
facial dermatosis +   
Facial Dysmorphism with Multiple Malformations +   
Facial Ectodermal Dysplasia  
facial hemiatrophy 
Facio Thoraco Genital Syndrome 
Faciocardiomelic Syndrome 
Faciocardiorenal syndrome 
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 
Failed Back Surgery Syndrome 
Fallot Complex with Severe Mental and Growth Retardation 
Familial Antiphospholipid Syndrome 
Familial Cyclic Vomiting Syndrome  
Familial Hyperchylomicronemia Syndrome 
Familial Popliteal Pterygium Syndrome 
Fanconi syndrome +   
Fanconi-like 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 
Femoral Facial Syndrome 
Femur Bifid with Monodactylous Ectrodactyly 
Femur Fibula Ulna Syndrome 
fetal alcohol syndrome 
Fetal Hydantoin Syndrome 
Fetal Inflammatory Response Syndrome  
Fetal Trimethadione Syndrome 
fetal valproate syndrome 
FG syndrome  
Fg Syndrome 5 
fibrochondrogenesis +   
fibrogenesis imperfecta ossium 
Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation 
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 
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 
Flat Umbilicus Familial 
Floating-Harbor Syndrome  
FLOTCH syndrome 
Flynn Aird syndrome 
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 
Frints De Smet Fabry Fryns Syndrome 
Frontonasal Dysplasia 3  
Frontoocular Syndrome 
Fryns Hofkens Fabry Syndrome 
Fryns Syndrome 
Fryns-Aftimos 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 
geniculate herpes zoster 
Genito Palato Cardiac Syndrome 
Genitopatellar Syndrome  
Genoa Syndrome 
German Syndrome 
Gerstmann syndrome 
Ghose Sachdev Kumar Syndrome 
Giacheti Syndrome 
Gitelman syndrome  
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
GLUT1 Deficiency Syndrome  
Glutamyl Ribose-5-Phosphate Storage Disease 
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16  
Goldberg-Shprintzen syndrome  
Goldblatt Viljoen Syndrome 
Goldenhar syndrome +   
Goldstein Hutt Syndrome 
Gollop Coates Syndrome 
GOMBO Syndrome 
Gomez Lopez Hernandez Syndrome 
Gonadal Dysgenesis, XY Type, with Associated Anomalies 
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 and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Growth Mental Deficiency Syndrome of Myhre  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Grubben de Cock Borghgraef Syndrome 
Guillain-Barre syndrome +   
Gurrieri Sammito Bellussi Syndrome 
Hadziselimovic syndrome 
Hagemoser Weinstein Bresnick syndrome 
Hair Defect with Photosensitivity and Mental Retardation 
hair disease +   
HAIR-AN syndrome 
Hajdu-Cheney syndrome +   
Halal Setton Wang Syndrome 
Halal Syndrome 
Hall Riggs Mental Retardation Syndrome 
Hallermann-Streiff syndrome +  
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 
HEART AND BRAIN MALFORMATION SYNDROME  
Heart Defects Limb Shortening 
Hecht Scott Syndrome 
Hecht Syndrome  
HELIX syndrome  
HELLP syndrome  
hemangioma of subcutaneous tissue 
Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities 
hemolytic-uremic syndrome +   
hemorrhagic fever with renal syndrome +   
Hemorrhagic Shock and Encephalopathy Syndrome 
Hennekam syndrome +   
hepatic encephalopathy +   
hepatopulmonary syndrome  
hepatorenal syndrome  
hereditary breast and ovarian cancer syndrome +   
hereditary fructose intolerance syndrome  
Hereditary Paraganglioma-Pheochromocytoma Syndromes  
hereditary spastic paraplegia 14 
hereditary spastic paraplegia 18  
hereditary spastic paraplegia 32 
Hermanski-Pudlak syndrome +   
Hernandez Aguirre-Negrete syndrome 
Hernandez Fragoso syndrome 
Herrmann Syndrome 
Hersh Podruch Weisskopk Syndrome 
heterotaxy syndrome +   
Heterotaxy, Visceral, 2, Autosomal  
HHH syndrome  
Hhhh Syndrome 
HID Syndrome  
high pressure neurological syndrome 
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 
Hittner Hirsch Kreh Syndrome 
HIV Enteropathy 
HIV Wasting Syndrome  
HIV-Associated Lipodystrophy Syndrome  
Ho Kaufman Mcalister Syndrome 
holoprosencephaly +   
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
Holt-Oram syndrome  
Holzgreve Wagner Rehder Syndrome 
Homozygous 11p15-p14 Deletion Syndrome 
Hooft Disease 
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 
hydrolethalus syndrome +   
Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
Hydroxylysinuria 
Hyper-IgM Immunodeficiency Syndrome +   
hypereosinophilic syndrome +   
Hyperimmunoglobulin G1(A1) Syndrome 
hyperinsulinism +   
Hyperkeratosis-Hyperpigmentation Syndrome 
Hyperleucine-Isoleucinemia 
hyperlysinemia due to defect in lysine transport into mitochondria 
hypermobility syndrome 
hyperphosphatasia with mental retardation +   
hypertelorism, microtia, facial clefting syndrome 
Hypertelorism, Severe, with Midface Prominence, Myopia, Mental Retardation, and Bone Fragility  
Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features 
Hyperuricemia, Infantile, with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase 
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 
hypogonadotropic hypogonadism 23 with or without anosmia  
hypomagnesemia, seizures, and mental retardation  
Hypomelia Mullerian Duct Anomalies 
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypophosphatemia, Renal, with Intracerebral Calcifications 
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, Infantile, with Psychomotor Retardation +   
hypotonia, seizures, and precocious puberty 
hypotonia-cystinuria syndrome  
Hypotrichosis-Lymphedema-Telangiectasia Syndrome +   
Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 
ichthyosis +   
ichthyosis and male hypogonadism 
Ichthyosis Cheek Eyebrow Syndrome 
Ichthyosis Follicularis Atrichia Photophobia Syndrome  
Ichthyosis Prematurity Syndrome  
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
Ichthyosis, Spastic Quadriplegia, and Mental Retardation  
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 
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 +   
inclusion-cell disease  
Incomplete Sertoli Cell-Only Syndrome 
Indolylacroyl Glycinuria with Mental Retardation 
infancy electroclinical syndrome +   
Insulin Autoimmune Syndrome 
Insulin-Like Growth Factor I, Resistance To  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN  
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis  
Iridocorneal Endothelial Syndrome +  
iridogoniodysgenesis syndrome +   
Iris Dysplasia Hypertelorism Deafness 
Irons Bhan Syndrome 
irritable bowel syndrome  
Isaacs Syndrome  
Islet Cell Tumor Syndrome 
Isodicentric Chromosome 15 Syndrome  
isolated cleft palate, and mental retardation  
Isolated Noncompaction of the Ventricular Myocardium +   
Isotretinoin Embryopathy Like Syndrome 
Jaccoud's syndrome 
Jackson-Weiss Syndrome  
Jacobsen Distal 11q Deletion Syndrome +  
Jaffer Beighton Syndrome 
Jagell Holmgren Hofer syndrome 
Jalili Syndrome 
Jankovic Rivera syndrome  
Jarcho-Levin syndrome  
Jensen syndrome  
Jequier Kozlowski Skeletal Dysplasia 
Jet Lag Syndrome 
JMP syndrome  
Job's syndrome +   
Johanson Blizzard syndrome  
Johnson Munson Syndrome 
Johnson Neuroectodermal Syndrome 
Johnston Aarons Schelley Syndrome 
JOINT LAXITY, SHORT STATURE, AND MYOPIA  
Jones Hersh Yusk Syndrome 
Jones Syndrome 
Jorgenson Lenz Syndrome 
Joubert syndrome +   
Joubert syndrome 1  
Joubert syndrome 14  
Joubert syndrome 15  
Joubert Syndrome 27  
Joubert Syndrome 28  
Joubert syndrome 7  
Joubert syndrome 9  
Juberg Hayward Syndrome 
Judge Misch Wright Syndrome 
Jung Wolff Back Stahl Syndrome 
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  
Keratoconus Posticus Circumscriptus with Associated Malformations 
keratosis +   
Keutel Syndrome  
Khalifa Graham Syndrome 
Kimura disease 
King Denborough Syndrome  
Kleeblattschaedel Syndrome 
Kleefstra syndrome  
KLEEFSTRA SYNDROME 2  
Kleine-Levin syndrome 
Kleiner Holmes Syndrome 
Klinefelter syndrome 
Klippel-Feil syndrome +   
Klippel-Trenaunay-Weber syndrome +  
Kluver-Bucy syndrome +  
Knobloch Syndrome  
Kocher-Debre-Semelaigne Syndrome 
Kohlschutter Tonz Syndrome  
Konigsmark Knox Hussels Syndrome 
Koolen-De Vries 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 
Kyphomelic Dysplasia 
Lachiewicz Sibley Syndrome 
lacrimoauriculodentodigital 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 syndrome +   
Larsen syndrome, recessive type +   
Larsen-like syndrome 
Larsen-like syndrome, lethal type 
Laryngo Onycho Cutaneous Syndrome  
lateral medullary syndrome +   
lateral meningocele syndrome  
lateral semicircular canal malformation, familial, with external and middle ear abnormalities 
Laurence Prosser Rocker Syndrome 
Laurence-Moon syndrome  
Laurin-Sandrow Syndrome  
lazy leukocyte syndrome 
Le Marec Bracq Picaud Syndrome 
leg dermatosis 
Legius Syndrome  
Leichtman Wood Rohn Syndrome 
Lelis Syndrome 
Lemierre's syndrome +  
Lenz Majewski Hyperostotic Dwarfism  
LEOPARD syndrome +   
Leriche Syndrome 
Lesch-Nyhan syndrome +   
lethal congenital contracture syndrome +   
Leukemia, Megakaryoblastic, of Down Syndrome  
leukocyte adhesion deficiency +   
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Levator Syndrome 
Li-Fraumeni syndrome +   
Li-Fraumeni-Like Syndrome  
Lichtenstein Syndrome 
Liddle syndrome  
Light Fixation Seizure Syndrome 
limb defects, distal transverse, with mental retardation and spasticity 
Limb-Mammary Syndrome  
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2  
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3  
lipomatosis +   
Lissencephaly 3  
Lissencephaly 4  
localized scleroderma +   
locked-in syndrome 
Loeffler syndrome 
Loeys-Dietz syndrome +   
Loeys-Dietz Syndrome 5  
loiasis 
long QT syndrome +   
Loose Anagen Hair Syndrome +   
Lopes Gorlin Syndrome 
LOPES-MACIEL-RODAN SYNDROME  
Loucks-Innes syndrome  
Lown-Ganong-Levine syndrome 
Lowry Maclean syndrome 
Lowry Wood Syndrome 
Lubani Al Saleh Teebi Syndrome 
Lubinsky syndrome 
Lubs Syndrome 
Lujan Fryns Syndrome  
Lung agenesis  
LUNG DAMAGE, IMMUNODEFICIENCY AND CHROMOSOME BREAKAGE SYNDROME  
Luscan-Lumish syndrome  
Lutembacher's syndrome 
Lutz Richner Landolt Syndrome 
Lymphedema Distichiasis Syndrome  
Lymphedema, Cardiac Septal Defects, And Characteristic Facies 
Lymphedema, Microcephaly and Chorioretinopathy 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 autism syndrome  
Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome  
Macroepiphyseal Dysplasia, McAlister Coe Type 
Macrophage Activation Syndrome  
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Macrosomia with Lethal Microphthalmia 
Maffucci syndrome 
Majeed Syndrome  
Malabsorption Syndromes +   
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 
Malignant Carcinoid Syndrome +  
Mallory-Weiss Syndrome 
Malouf syndrome  
Mammary-Digital-Nail Syndrome 
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome  
mandibulofacial dysostosis with alopecia  
mandibulofacial dysostosis with mental deficiency  
mandibulofacial dysostosis, Guion-Almeida type  
Manouvrier Syndrome 
Manz Syndrome 
Marden Walker Like Syndrome  
Marden-Walker Syndrome  
MARFAN LIPODYSTROPHY SYNDROME  
Marfan syndrome +   
Marfan syndrome, autosomal recessive  
Marfanoid Hypermobility Syndrome 
Marfanoid Mental Retardation Syndrome, Autosomal 
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  
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 syndrome 5  
Meckel syndrome 6  
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 +   
Megalancephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome +   
Megalencephalic Leukoencephalopathy with Subcortical Cysts 2B, Remitting, with or without Mental Retardation  
Megalencephaly Cutis Marmorata Telangiectatica Congenita  
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability  
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 
Menkes disease +   
Mental and Growth Retardation with Amblyopia 
Mental retardation and distinctive facial features with or without cardiac defects  
mental retardation associated with psoriasis 
Mental Retardation Mietens Weber Type 
Mental retardation Smith Fineman Myers type 
Mental Retardation Spasticity Ectrodactyly 
Mental Retardation Syndrome, Belgian Type 
Mental retardation with language impairment and with or without autistic features  
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation with Spastic Paraplegia 
Mental Retardation Wolff Type 
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS  
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45  
MENTAL RETARDATION, AUTOSOMAL DOMINANT 46  
MENTAL RETARDATION, AUTOSOMAL DOMINANT 47  
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48  
MENTAL RETARDATION, AUTOSOMAL DOMINANT 49  
MENTAL RETARDATION, AUTOSOMAL DOMINANT 50  
MENTAL RETARDATION, AUTOSOMAL DOMINANT 51  
MENTAL RETARDATION, AUTOSOMAL DOMINANT 52  
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53  
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54  
MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES  
MENTAL RETARDATION, AUTOSOMAL DOMINANT 56  
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61  
Mental Retardation, Autosomal Recessive 8 
Mental Retardation, Buenos Aires Type 
Mental Retardation, Fra12a Type  
Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities 
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Mental Retardation, Severe, with Spasticity and Pigmentary Tapetoretinal Degeneration 
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mental Retardation, X-Linked +   
Mental Retardation, X-Linked, Syndromic, Zdhhc9-Related 
Mental Retardation, X-Linked, with Panhypopituitarism  
Mental Retardation, X-Linked, Znf711-Related  
Merlob Grunebaum Reisner Syndrome 
MERRF Syndrome +   
MERRF/MELAS Overlap Syndrome  
Mesomelia-synostoses syndrome 
Mesomelic Limb Shortening and Bowing 
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 
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 Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
microcephaly with mental retardation and digital anomalies  
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
Microcephaly, Epilepsy, and Diabetes Syndrome  
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Macrotia, and Mental Retardation 
Microcephaly-Capillary Malformation Syndrome  
Microcephaly-Micromelia Syndrome  
Microdontia Hypodontia Short Stature 
Microphthalmia and Mental Deficiency 
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME  
Microspherophakia with Hernia 
middle lobe syndrome  
Miles-Carpenter syndrome  
miliaria +  
Miller-Dieker lissencephaly syndrome  
Milner Khallouf Gibson Syndrome 
Mirhosseini-Holmes-Walton Syndrome 
Mirizzi Syndrome 
Mitchell-Riley Syndrome  
mitochondrial DNA depletion syndrome 8A +   
mixed connective tissue disease  
Mobius syndrome +   
Mollica Pavone Antener Syndrome 
Moloney Syndrome 
MOMES Syndrome 
mongolian spot 
monilethrix +   
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 
Mowat-Wilson syndrome  
MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME  
Muenke syndrome  
Muir-Torre syndrome  
Muller Barth Menger Syndrome 
multicentric carpotarsal osteolysis syndrome  
multicentric reticulohistiocytosis 
multiple chemical sensitivity  
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 
multiple congenital anomalies-hypotonia-seizures syndrome 1  
multiple congenital anomalies-hypotonia-seizures syndrome 2  
multiple congenital anomalies-hypotonia-seizures syndrome 3  
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability  
Multiple Hamartoma syndrome +   
multiple mitochondrial dysfunctions syndrome +   
multiple pterygium syndrome +   
multiple synostoses syndrome +   
multiple system atrophy +   
Multisystemic Smooth Muscle Dysfunction Syndrome  
Munchausen syndrome +  
Mungan syndrome 
Murine Acquired Immunodeficiency Syndrome  
Muscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
Muscular Dystrophy, Congenital, plus Mental Retardation 
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1  
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14  
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2  
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3  
muscular dystrophy-dystroglycanopathy type B6  
myelodysplastic syndrome +   
myofascial pain syndrome +   
myopathy, cataract, hypogonadism syndrome 
myotonia with skeletal abnormalities and mental retardation 
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  
Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia 
Nathalie Syndrome 
necrobiosis lipoidica 
Necrobiotic Disorders +  
Necrolytic Migratory Erythema 
Nelson syndrome 
neonatal abstinence syndrome 
neonatal period electroclinical syndrome +   
Nephrogenic Fibrosing Dermopathy  
nephrotic syndrome +   
nerve compression syndrome +   
Nestor-Guillermo Progeria Syndrome  
Netherton syndrome  
Neu-Laxova syndrome 1  
Neu-Laxova syndrome 2  
Neuhauser Daly Magnelli Syndrome 
Neuhauser Eichner Opitz Syndrome 
Neuhauser syndrome 
Neurocutaneous Syndromes +   
NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS  
Neurofaciodigitorenal Syndrome 
Neurofibromatosis-Noonan Syndrome  
Neurologic Disease, Infantile Multisystem, with Osseous Fragility 
neuromyelitis optica  
neurotoxicity syndromes +   
Neutrophil Immunodeficiency Syndrome  
nevoid basal cell carcinoma syndrome +   
Nevus, Sebaceous of Jadassohn +   
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 
non-syndromic intellectual disability +   
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
noninfectious dermatoses of eyelid +  
Nonkeratan-sulfate-excreting Morquio syndrome 
nonprogressive cerebellar ataxia with mental retardation  
Noonan like syndrome +   
Noonan syndrome +   
Norman-Roberts syndrome  
Novak Syndrome 
O'Donnell Pappas Syndrome  
Obesity Hypoventilation Syndrome 
occipital horn syndrome  
oculoauricular syndrome  
Oculoauriculofrontonasal syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
Oculocerebrocutaneous Syndrome 
oculocerebrorenal syndrome +   
Oculodental Syndrome Rutherfurd Syndrome 
Oculootoradial Syndrome  
Oculopalatocerebral Syndrome 
Oculorenocerebellar Syndrome 
Odontoma Dysphagia Syndrome 
Odontotrichoungual-Digital-Palmar Syndrome 
Ogden syndrome  
Ohdo syndrome +   
Ohtahara syndrome  
OI/EDS Combined Syndrome  
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME  
oligodontia-colorectal cancer syndrome  
Oliver Syndrome 
Oliver-McFarlane Syndrome  
Ollier disease  
Omenn syndrome  
Onat Syndrome 
Onychotrichodysplasia and Neutropenia 
Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency 
Opitz Reynolds Fitzgerald syndrome 
Opitz trigonocephaly syndrome 
Opitz-GBBB syndrome +   
Opsoclonus-Myoclonus Syndrome +   
Optic Atrophy 10 with or without Ataxia, Mental Retardation, and Seizures  
Optic Atrophy Spastic Paraplegia Syndrome 
orofaciodigital syndrome +   
Orstavik Lindemann Solberg Syndrome  
Osebold Skeletal Dysplasia Osteolysis Syndrome 
Oslam syndrome 
Osteolysis Syndrome Recessive 
Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis  
Osteopenic Nonfracture Syndrome  
osteoporosis-pseudoglioma syndrome  
Otofacioosseous-Gonadal Syndrome 
Otoonychoperoneal Syndrome 
otulipenia  
ovarian hyperstimulation syndrome  
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 
Pagon Stephan Syndrome 
Pain Insensitivity, Congenital +   
Paine Syndrome 
Palant Cleft Palate Syndrome 
palindromic rheumatism 
Pallister Killian Syndrome 
Pallister W syndrome 
Pallister-Hall syndrome +   
Palmer Pagon Syndrome 
Pancoast tumor +  
panniculitis +   
Parana Hard Skin Syndrome 
Paraneoplastic Syndromes +   
Parastremmatic Dwarfism  
PARC Syndrome 
Parkinsonism, Early Onset with Mental Retardation  
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 
Patella Hypoplasia Mental Retardation 
patellofemoral pain syndrome 
Patterson Pseudoleprechaunism Syndrome 
Patterson Stevenson Syndrome +   
Pavone Fiumara Rizzo Syndrome 
Pearson syndrome 
peeling skin syndrome +   
Peeling Skin Syndrome, Acral Type  
PEHO Syndrome  
Pellagra like Syndrome 
Pelvis-Shoulder Dysplasia 
Pendred syndrome  
Penoscrotal Transposition 
Pentalogy of Cantrell 
Penttinen-Aula Syndrome  
periodic limb movement disorder 
Perisylvian Syndrome +   
Perlman syndrome  
Perniola Krajewska Carnevale Syndrome 
Perrault syndrome +   
Perry syndrome  
persian gulf syndrome  
persistent fetal circulation syndrome  
persistent Mullerian duct syndrome  
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 
PHARC syndrome  
Pheochromocytoma Islet Cell Tumor Syndrome 
photosensitivity disease +   
PICA Syndrome 
Piepkorn Karp Hickok syndrome 
Pierpont syndrome  
Pierson syndrome  
pigment dispersion syndrome  
pigmentation disease +   
PILAROWSKI-BJORNSSON SYNDROME  
Pilotto Syndrome 
Pinheiro Freire-Maia Miranda Syndrome 
Piriformis Muscle Syndrome +  
Pitt-Hopkins syndrome +   
Pituitary Hormone Deficiency, Combined, 1  
Pituitary Hormone Deficiency, Combined, 4  
Pituitary Stalk Interruption Syndrome  
Piussan Lenaerts Mathieu syndrome 
Plica syndrome 
Plummer-Vinson syndrome  
Podder-Tolmie syndrome 
POEMS syndrome 
Pointer syndrome 
Poland syndrome 
Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia  
Polycystic Kidney Diseases +   
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 Leukoencephalopathy Syndrome  
postgastrectomy syndrome +  
Postpericardiotomy Syndrome 
postpoliomyelitis syndrome 
postthrombotic syndrome 
postural orthostatic tachycardia syndrome  
Potocki-Lupski syndrome  
Potocki-Shaffer 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 +   
Preaxial Deficiency, Postaxial Polydactyly and Hypospadias  
Preeyasombat Varavithya Syndrome 
Premature Aging, Okamoto Type 
Premature Ovarian Failure 10  
Presumed Ocular Histoplasmosis Syndrome  
Prieto syndrome 
primary hypertrophic osteoarthropathy +   
primary immunodeficiency disease +   
Primrose Syndrome  
Prolidase Deficiency  
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation  
Propofol Infusion Syndrome 
Proteus syndrome +   
Proud Syndrome  
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 
Pseudouridinuria and Mental Defect 
psoriatic arthritis  
Qazi Markouizos syndrome 
Radial Defect Robin Sequence 
Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias 
Radial Ray Hypoplasia Choanal Atresia 
Radio Renal Syndrome 
Radio-Ulnar Synostosis Type 1 
Radio-Ulnar Synostosis Type 2 
Radioulnar Synostosis Retinal Pigment Abnormalities 
RAHMAN SYNDROME  
Raine Syndrome  
Rajab Syndrome 
Rambaud Galian Syndrome 
Ramon Syndrome 
Ramos Arroyo Clark Syndrome 
rapadilino 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, Proximal, with Ocular Abnormalities and Mental Retardation  
Renal Tubular Dysgenesis with Choanal Atresia and Athelia 
restless legs syndrome +   
retinal dystrophy, iris coloboma, and comedogenic acne syndrome  
Retinal dystrophy, juvenile cataracts, and short stature syndrome  
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 
retinitis pigmentosa-deafness syndrome  
Retinohepatoendocrinologic Syndrome 
Rett syndrome +   
Revesz syndrome  
Reye syndrome  
Reynolds syndrome  
Rh deficiency syndrome  
Rhizomelic Syndrome 
RHYNS syndrome 
Richards-Rundle Syndrome 
Richieri Costa Da Silva Syndrome 
Richieri Costa Guion-Almeida Syndrome 
Richieri Costa Pereira Syndrome  
Richter's syndrome 
Riddle syndrome  
Ridges-off-the-end Syndrome 
Riley Day syndrome +   
Ring Chromosome 14 Syndrome 
Ring Chromosome 20 Syndrome 
Ring Chromosome 4 Syndrome 
Ritscher-Schinzel syndrome +   
Ritscher-Schinzel syndrome 2  
Roberts syndrome  
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Robinow Sorauf Syndrome  
Robinow syndrome +   
Robinson Miller Bensimon Syndrome 
Roifman Syndrome  
Roifman-Chitayat Syndrome 
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant  
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked  
Romano-Ward Syndrome +   
Rombo syndrome 
Rommen Mueller Sybert Syndrome 
rosacea +   
Rosenthal-Kloepfer Syndrome 
Rosselli-Gulienetti Syndrome 
Rothmund-Thomson syndrome +   
Rowley-Rosenberg Syndrome 
Roy Maroteaux Kremp Syndrome 
Rozin Hertz Goodman Syndrome 
Rubella Syndrome, Congenital 
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 
Sacral Defect and Anterior Sacral Meningocele  
Sacral Meningocele Conotruncal Heart Defects 
Saito Kuba Tsuruta Syndrome 
Sakati-Nyhan syndrome 
Salcedo Syndrome 
Saldino-Noonan 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  
Scaphocephaly, Maxillary Retrusion, and Mental Retardation  
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 +   
scleredema adultorum 
Sclerosing Bone Dysplasia Mental Retardation 
Scott Bryant Graham Syndrome 
Scott syndrome  
sea-blue histiocyte syndrome  
seasonal affective disorder 
Seaver Cassidy Syndrome 
sebaceous gland disease +   
Seckel Like Syndrome Type Buebel 
Seckel syndrome +   
Seckel syndrome 3 
Seckel syndrome 4  
Second Metatarsal-Metacarpal Syndrome 
Seemanova Lesny Syndrome 
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME  
Selig Benacerraf Greene Syndrome 
Sener Syndrome 
Senior-Loken syndrome +   
SENSORINEURAL DEAFNESS AND MIGRAINE  
Seow Najjar Syndrome 
Seres-Santamaria Arimany Muniz Syndrome 
Serotonin Syndrome 
Serpentine Fibula Polycystic Kidney Syndrome 
Sertoli cell-only syndrome +   
SESSILE SERRATED POLYPOSIS CANCER SYNDROME  
severe acute respiratory syndrome  
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, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES  
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
Short Stature-Obesity Syndrome 
SHORT Syndrome  
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 +   
Simpson-Golabi-Behmel Syndrome, Type 2  
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 Defects, Genital Hypoplasia, And Mental Retardation  
Sketetal Dysplasia Coarse Facies Mental Retardation 
Skin Abnormalities +   
skin atrophy 
Skin Creases, Congenital Symmetric Circumferential, 1  
Skin Creases, Congenital Symmetric Circumferential, 2  
Skin Diseases, Eczematous +   
Skin Diseases, Genetic +   
Skin Diseases, Infectious +   
Skin Diseases, Metabolic +   
Skin Diseases, Papulosquamous +   
Skin Fragility-Woolly Hair Syndrome  
Skin Neoplasms +   
skin sarcoidosis 
skin ulcer +   
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 +   
Smith-Magenis syndrome +   
Sneddon syndrome  
Sohval Soffer Syndrome 
Sonoda Syndrome 
Sotos syndrome +   
spastic ataxia +   
Spastic Diplegia Infantile Type 
Spastic Paraplegia and Evans Syndrome 
Spastic Paraplegia Epilepsy Mental Retardation 
Spastic Paraplegia with Kallmann Syndrome 
Spastic Paraplegia, Ataxia, and Mental Retardation 
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY  
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 
Spastic Paresis, Glaucoma, and Mental Retardation 
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 
Spinal Muscular Atrophy with Mental Retardation 
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 
SPOAN syndrome  
spondylocarpotarsal synostosis syndrome  
Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type  
Spondyloepimetaphyseal Dysplasia, Genevieve Type  
spondyloepimetaphyseal dysplasia, Strudwick type  
Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium 
Spranger Schinzel Myers Syndrome 
STANKIEWICZ-ISIDOR SYNDROME  
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 
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  
STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME  
Sturge-Weber Syndrome +   
Stuve-Wiedemann syndrome  
subclavian steal syndrome 
Sucrosuria, Hiatus Hernia and Mental Retardation 
sudden infant death syndrome +   
Sudden Infant Death with Dysgenesis of the Testes Syndrome  
Sudden Unexpected Nocturnal Death Syndrome 
Summitt Syndrome 
SUNCT Syndrome 
superior mesenteric artery syndrome +  
Superior Vena Cava Syndrome  
Supernumerary Der(22)t(8 
supine hypotensive syndrome 
Susac syndrome 
sweat gland disease +   
SWEENEY-COX SYNDROME  
Sweet Syndrome  
Syndactyly-Polydactyly-Earlobe Syndrome 
syndromic intellectual disability +   
syndromic X-linked intellectual disability Abidi type 
syndromic X-linked intellectual disability Lubs type  
syndromic X-linked intellectual disability Siderius type  
syndromic X-linked intellectual disability Turner type  
Systemic Inflammatory Response Syndrome +   
systemic scleroderma +   
Tabatznik Syndrome 
Takao VCF Syndrome 
Takayasu's arteritis  
Takenouchi-Kosaki Syndrome  
Tamari Goodman Syndrome 
Tang Hsi Ryu syndrome 
TARP Syndrome  
TATTON-BROWN-RAHMAN SYNDROME  
Taylor's syndrome 
Teebi Kaurah Syndrome 
Teebi Naguib Al Awadi syndrome 
Teebi Shaltout Syndrome 
Teebi Syndrome 
Teeth Noneruption of with Maxillary Hypoplasia and Genu Valgum 
Tel Hashomer Camptodactyly Syndrome 
Telfer Sugar Jaeger Syndrome 
telomeric 22q13 monosomy syndrome  
Temple-Baraitser syndrome  
Temporomandibular Joint Dysfunction Syndrome  
temtamy preaxial brachydactyly syndrome  
Temtamy Syndrome  
Tenorio Syndrome  
Ter Haar Syndrome  
tethered spinal cord syndrome 
Tetra-Amelia with Pulmonary Hypoplasia 
Tetraamelia Multiple Malformations 
Tetraphocomelia-Thrombocytopenia Syndrome 
Tetrasomy X 
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 
thoracic outlet syndrome +  
Thoracolaryngopelvic dysplasia 
Thrombocytopenia Absent Ulnar Syndrome 
Thymic Aplasia with Fetal Death 
Thyrocerebral-Retinal Syndrome 
thyroid hormone resistance syndrome +   
Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 
Tietz syndrome  
Tietze's syndrome  
Timothy syndrome  
Tn Syndrome  
Tollner Horst Manzke Syndrome 
Tolosa-Hunt syndrome +  
Tonoki Syndrome 
Tourette syndrome +   
Townes-Brocks syndrome  
TOWNES-BROCKS SYNDROME 2  
Townes-Brocks-Branchiootorenal-Like Syndrome  
Tranebjaerg Svejgaard syndrome 
transient global amnesia 
Transient Myeloproliferative Disorder of Down Syndrome  
Treft Sanborn Carey syndrome 
Tricho-Dento-Osseous Syndrome  
Tricho-Dento-Osseous Syndrome 1 
trichodental syndrome 
Trichodentoosseous Syndrome  
Trichohepatoenteric Syndrome  
trichorhinophalangeal syndrome +   
Trichorrhexis Nodosa Syndrome 
Trichothiodystrophy 1, Photosensitive  
trichothiodystrophy syndromes +   
trigeminal neuralgia  
Triphalangeal Thumbs Brachyectrodactyly 
Triple X Syndrome 
triple-A syndrome  
Trisomy 18-Like Syndrome 
Trisomy 22 Mosaicism Syndrome 
Trueb Burg Bottani syndrome 
tryptophanuria with dwarfism 
Tsukahara syndrome 
Tucker Syndrome 
Tukel syndrome 
Tumor Lysis Syndrome  
Tumor Predisposition Syndrome  
Tunglang Savage Bellman Syndrome 
Turcot Syndrome  
Turner syndrome +   
Ulna Metaphyseal Dysplasia Syndrome 
Ulnar Hypoplasia with Mental Retardation 
Ulnar Nerve Compression Syndromes +  
ulnar-mammary syndrome  
Uncombable hair syndrome +   
Unverricht-Lundborg syndrome  
Upton Young Syndrome 
Urban Schosser Spohn Syndrome 
urethral syndrome 
Urioste Martinez-Frias Syndrome 
urofacial syndrome +   
Urogenital Adysplasia 
Uropathy Distal Obstructive Polydactyly 
urticaria +   
Uruguay Faciocardiomusculoskeletal Syndrome  
Usher syndromes +   
UV-sensitive syndrome +   
VACTERL/VATER association  
Van Bogaert-Hozay Syndrome 
Van Den Bosch Syndrome 
Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome 
Van der Woude syndrome +   
Van der Woude Syndrome 2  
Van Maldergem syndrome +   
vascular skin disease +   
Vasquez Hurst Sotos syndrome 
Velofacioskeletal Syndrome 
Verheij Syndrome  
Verloes Bourguignon Syndrome  
Verloes Gillerot Fryns Syndrome 
Verloes Van Maldergem Marneffe Syndrome 
Verloove-Vanhorick Brubakk Syndrome 
vertebral artery insufficiency +  
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1  
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2  
vesiculobullous skin disease +   
Viljoen Kallis Voges Syndrome 
Vitiligo, Progressive, with Mental Retardation and Urethral Duplication 
Vogt-Koyanagi-Harada disease  
Vohwinkel Syndrome  
Volcke Soekarman Syndrome 
Waaler Aarskog Syndrome 
Waardenburg syndrome +   
WAGR syndrome +   
Walbaum Titran Durieux Crepin Syndrome 
Walker Dyson Syndrome 
Walker-Warburg syndrome +   
Warburg micro syndrome +   
Warburg micro syndrome 2  
Warburg micro syndrome 3  
Warburg micro syndrome 4  
Warburton Anyane Yeboa Syndrome 
Warfarin Syndrome 
Warman Mulliken Hayward Syndrome 
Warsaw breakage syndrome  
Wasting Syndrome +   
Waterhouse-Friderichsen syndrome +  
Watson Syndrome  
Weaver syndrome  
Weill-Marchesani syndrome  
Weill-Marchesani Syndrome 3  
Weill-Marchesani-Like 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 
West syndrome  
Weyers Acrofacial Dysostosis  
Weyers Ulnar Ray/Oligodactyly Syndrome 
WHIM syndrome  
White Forelock with Malformations 
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 
Williams-Beuren 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 
Witkop syndrome  
Wittwer Syndrome 
Wolcott-Rallison syndrome  
Wolf-Hirschhorn syndrome  
Wolff-Parkinson-White syndrome  
Wolfram syndrome +   
Woodhouse Sakati Syndrome  
Woods Black Norbury Syndrome 
Woods Leversha Rogers Syndrome 
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears 
Worster Drought Syndrome  
Worth syndrome  
Wright Dyck Syndrome 
Wrinkly Skin Syndrome  
WT Limb Blood Syndrome 
Wyburn Mason's Syndrome 
XFE progeroid syndrome  
Xia-Gibbs syndrome  
XK Aprosencephaly 
yellow nail syndrome +  
Yemenite Deaf-Blind Hypopigmentation Syndrome 
Yim Ebbin Syndrome 
Yorifuji Okuno Syndrome 
YOU-HOOVER-FONG SYNDROME  
Young Hughes Syndrome 
Young Simpson 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  
Zori Stalker Williams Syndrome 
ZTTK Syndrome  
Zunich Neuroectodermal Syndrome  

Synonyms
Primary IDs: MESH:C536204 ;   RDO:0001684

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