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Ontology Browser

Term:
deafness-dystonia-optic neuronopathy syndrome (DOID:0050757)
Annotations: Rat: (2) Mouse: (2) Human: (3) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2) Naked Mole-rat: (2) Green Monkey: (2)
Parent Terms Term With Siblings Child Terms
cortical deafness +     
dementia +     
dystonia +     
optic atrophy +     
syndrome +     
16Q24.3 Microdeletion Syndrome  
3-M syndrome +   
3-methylglutaconic aciduria type 3  
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  
Absent Eyebrows and Eyelashes with Mental Retardation 
Abuse Dwarfism Syndrome 
achalasia microcephaly syndrome 
Achard syndrome 
Achard-Thiers Syndrome 
Achenbach syndrome 
Ackerman Syndrome 
acrocallosal syndrome +   
acrodysostosis +   
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 +   
Adie syndrome 
Adrenogenital Syndrome +   
adult respiratory distress syndrome  
adult-onset ataxia and polyneuropathy  
AGAT deficiency  
agenesis of corpus callosum, cardiac, ocular, and genital syndrome  
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency  
Aicardi syndrome  
AIDS Dementia Complex  
Akaba Hayasaka Syndrome 
Akesson Syndrome 
akinetic mutism 
Aksu von Stockhausen 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 impaired intellectual development 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  
Aloi Tomasini Isaia Syndrome 
Alopecia Contractures Dwarfism Mental Retardation 
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
alopecia, neurologic defects, and endocrinopathy syndrome  
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 
alopecia-mental retardation syndrome +   
alpha thalassemia-intellectual disability syndrome type 1 
alpha thalassemia-X-linked intellectual disability syndrome  
Alport syndrome +   
Alsing Syndrome 
Alstrom syndrome  
Alves Castelo dos Santos Syndrome 
Alzheimer's disease +   
AMED syndrome  
Ameloonychohypohidrotic Syndrome 
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
AMME complex 
Amniotic Band Syndrome +  
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 
Amyotrophic Dystonic Paraplegia 
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1  
androgen insensitivity syndrome +   
Angelman syndrome  
Angelucci's syndrome 
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
Anophthalmia Plus Syndrome 
Ansell Bywaters Elderking Syndrome 
anterior spinal artery syndrome 
Anticholinergic Syndrome 
antiphospholipid syndrome +   
antisynthetase syndrome  
Antley-Bixler syndrome +   
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
Aortic Arch Syndromes +   
aplasia of lacrimal and salivary glands  
apparent mineralocorticoid excess syndrome  
Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation 
Arboleda-Tham syndrome  
ARC syndrome +   
AREDYLD Syndrome 
Arena Syndrome 
Arima Syndrome 
Armfield syndrome  
Arnold Stickler Bourne Syndrome 
Arroyo Garcia Cimadevilla Syndrome 
arterial tortuosity syndrome  
Arthrogryposis, Impaired Intellectual Development, and Seizures  
Arts syndrome  
aseptic meningitis  
Asperger syndrome  
asphyxiating thoracic dystrophy +   
Asrar Facharzt Haque Syndrome  
Astley-Kendall Syndrome 
Asymmetric Short Stature Syndrome 
Ataxia with Myoclonic Epilepsy and Presenile Dementia 
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION  
Ataxia-Microcephaly-Cataract Syndrome 
Atkin Syndrome  
Au-Kline Syndrome  
Auditory Neuropathy +   
Aughton Syndrome 
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 
Auriculocondylar Syndrome +   
Ausems Wittebol-Post Hennekam Syndrome 
autoimmune interstitial lung, joint, and kidney disease  
Autonomic Dysreflexia 
Autosomal Dominant Compelling Helio Ophthalmic Outburst Syndrome 
autosomal dominant congenital deafness with onychodystrophy  
autosomal dominant intellectual developmental disorder +   
autosomal recessive cutis laxa type III +   
autosomal recessive intellectual developmental disorder +   
autosomal recessive limb-girdle muscular dystrophy type 2P  
autosomal recessive nonsyndromic deafness 51 
autosomal recessive nonsyndromic deafness 55 
Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development  
autosomal recessive spinocerebellar ataxia 12  
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 
Baker-Gordon Syndrome  
Baller-Gerold syndrome  
Bangstad Syndrome 
Banki Syndrome 
Banti's Syndrome  
Baraitser Rodeck Garner syndrome 
Baraitser-Winter syndrome +   
Baralle-Macken Syndrome  
Barber-Say syndrome  
Bardet-Biedl syndrome +   
Barre-Lieou syndrome 
Bart-Pumphrey syndrome  
Barth syndrome +   
Bartter disease +   
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 
BDV Syndrome  
Beardwell Syndrome 
Beare-Stevenson cutis gyrata syndrome  
Beaulieu-Boycott-Innes Syndrome  
Beck-Fahrner Syndrome  
Becker Nevus Syndrome  
Beckwith-Wiedemann syndrome +   
Beemer Ertbruggen Syndrome 
Beemer-Langer syndrome  
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 
Biemond Syndrome II 
bilateral perisylvian polymicrogyria +   
Bilateral Striatal Necrosis with Dystonia  
Birk-Barel syndrome  
Birk-Landau-Perez Syndrome  
Bjornstad syndrome  
blepharocheilodontic syndrome +   
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME  
Blue Diaper Syndrome 
blue drum syndrome +  
Blue Rubber Bleb Nevus Syndrome  
blue toe syndrome 
Bobble-Head Doll Syndrome 
Boerhaave Syndrome 
Bohring Syndrome  
Bonneau Syndrome 
Book Syndrome 
Borjeson-Forssman-Lehmann syndrome  
Bork Stender Schmidt Syndrome 
Bosch-Boonstra-Schaaf optic atrophy syndrome  
Boucher-Neuhauser syndrome  
Boudhina Yedes Khiari syndrome 
Bowen Syndrome 
Bowen-Conradi syndrome  
Boylan Dew Greco Syndrome 
brachial plexus neuritis +   
brachycephaly, trichomegaly, and developmental delay  
brachydactyly-syndactyly syndrome  
Brachymesomelia Renal Syndrome 
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 
brachyolmia-amelogenesis imperfecta syndrome  
Brain-Lung-Thyroid Syndrome  
branched-chain keto acid dehydrogenase kinase deficiency  
Branchiogenic-Deafness Syndrome 
branchiooculofacial syndrome  
branchiootorenal syndrome +   
breast implant illness 
Bresheck/Bresek 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 
BURATTI-HAREL SYNDROME  
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 Syndrome Guadalajara Type +  
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  
carbamoyl phosphate synthetase I deficiency disease  
Cardiac-Urogenital Syndrome  
Cardio-Renal Syndrome  
Cardiocranial Syndrome 
Cardiofacioneurodevelopmental Syndrome  
Cardiomyopathy Hypogonadism Collagenoma Syndrome 
Carnevale Hernandez Castillo Syndrome 
Carney complex +   
Carney-Stratakis syndrome  
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal  
Caroli syndrome  
Carpenter syndrome +   
Carrington Syndrome  
Cartilage Hair Hypoplasia Like Syndrome 
Cartwright Nelson Fryns Syndrome 
Carvajal syndrome +   
Cataract Microcornea Syndrome  
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
CATIFA Syndrome  
Cauda equina syndrome 
Cayler Cardiofacial Syndrome  
Central Cord Syndrome 
Cephalin Lipidosis 
cerebellar ataxia, mental retardation and dysequlibrium syndrome +   
cerebellar atrophy, visual impairment, and psychomotor retardation  
CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM  
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay  
Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 
cerebellofaciodental syndrome  
Cerebral Amyloidosis with Spongiform Encephalopathy +   
cerebral cavernous malformation 2  
cerebral cavernous malformation 3  
cerebral creatine deficiency syndrome +   
Cerebral Visual Impairment and Intellectual Disability  
cerebrocostomandibular syndrome  
CEREBROFACIAL ARTERIOVENOUS METAMERIC SYNDROME  
cerebrooculofacioskeletal syndrome 2  
cerebrooculofacioskeletal syndrome 4  
Cerebrooculonasal Syndrome 
Cervical Rib Syndrome +  
Chang Davidson Carlson Syndrome 
Char syndrome  
Charcot-Marie-Tooth disease X-linked recessive 5  
CHARGE syndrome  
Chemke Oliver Mallek Syndrome 
Chiari-Frommel Syndrome 
chiasmal syndrome 
Chilaiditi Syndrome 
CHILD syndrome  
Childhood Myocerebrohepatopathy Spectrum  
childhood onset GLUT1 deficiency syndrome 2  
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities  
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline  
CHIME syndrome  
Chitayat Meunier Hodgkinson Syndrome 
Chitayat Moore Del Bigio Syndrome 
CHITAYAT SYNDROME  
Chitty Hall Baraitser Syndrome 
Chitty Hall Webb Syndrome 
chondrodysplasia punctata +   
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 13q14 deletion syndrome  
chromosome 15q11.2 deletion syndrome  
chromosome 15q13.3 microdeletion syndrome  
chromosome 15q24 deletion syndrome  
chromosome 15q26-qter deletion syndrome  
chromosome 16p11.2 deletion syndrome, 593-kb  
chromosome 17p13.1 deletion syndrome 
chromosome 17q11.2 deletion syndrome  
Chromosome 18 Pericentric Inversion 
chromosome 1q21.1 duplication syndrome  
CHROMOSOME 2p16.3 DELETION SYNDROME  
chromosome 2q31.2 deletion syndrome 
chromosome 3q29 microdeletion syndrome  
Chromosome 4, 4q Terminal Deletion Syndrome 
Chromosome 4q- 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 Xq28 Duplication Syndrome  
chronic atrial and intestinal dysrhythmia  
chronic fatigue syndrome  
Chudley-Mccullough syndrome  
Chudley-Rozdilsky Syndrome 
ciliopathy +   
Circumvallate Placenta Syndrome 
Ciuffo Syndrome 
CK syndrome  
CLAPO Syndrome  
Clark-Baraitser syndrome  
cleft lip-palate-ectodermal dysplasia syndrome  
cleft palate-lateral synechia syndrome 
Cleidorhizomelic Syndrome 
CLOVES syndrome  
COACH syndrome +   
Cochlear Deafness with Myopia and Intellectual Impairment 
Cockayne syndrome +   
CODAS syndrome  
coenzyme Q10 deficiency disease +   
Coffin Syndrome 1 
Coffin-Lowry syndrome  
Coffin-Siris syndrome +   
Cogan syndrome +   
Cohen syndrome  
Cohen-Gibson Syndrome  
cold-induced sweating syndrome +   
Cole-Carpenter syndrome +   
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 
Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome +   
combined oxidative phosphorylation deficiency +   
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 Bone Marrow Failure Syndromes +   
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 
congenital central hypoventilation syndrome +   
CONGENITAL DISORDER OF DEGLYCOSYLATION 2  
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder  
congenital heart defects, hamartomas of tongue, and polysyndactyly  
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 
congenital leptin deficiency  
congenital limbs-face contractures-hypotonia-developmental delay syndrome  
Congenital Moderate Neural Deafness 
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
Congenital Muscular Dystrophy plus Mental Retardation 
congenital muscular dystrophy with cataracts and intellectual disability  
Congenital Pain Insensitivity +   
Conn's syndrome 
contractures, pterygia, and spondylocarpotarsal fusion syndrome +   
Corneal Cerebellar Syndrome 
corneal dystrophy-perceptive deafness syndrome  
Cornelia de Lange syndrome +   
Corneodermatoosseous Syndrome 
Coronary-Subclavian Steal Syndrome 
corpus callosum agenesis-abnormal genitalia syndrome  
Cortical Blindness, Retardation, and Postaxial Polydactyly 
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 dysmorphism, skeletal anomalies, and mental retardation syndrome +   
craniofacial-deafness-hand syndrome  
Craniofaciofrontodigital Syndrome 
Craniofacioskeletal Syndrome 
craniofrontonasal syndrome  
craniolenticulosutural dysplasia  
Craniomicromelic Syndrome 
Craniosynostosis 2  
Craniosynostosis Mental Retardation Clefting Syndrome 
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
Cree Mental Retardation Syndrome 
crescentic glomerulonephritis  
CREST syndrome  
Creutzfeldt-Jakob disease +   
Cri-du-Chat syndrome +   
Crigler-Najjar syndrome +   
Crome Syndrome 
Crouzon syndrome-acanthosis nigricans syndrome  
Crush Syndrome  
Cryopyrin-Associated Periodic Syndromes +   
Cryptomicrotia Brachydactyly Syndrome 
Cubital Tunnel Syndrome 
Cubitus Valgus with Impaired Intellectual Development and Unusual Facies 
Curatolo Cilio Pessagno Syndrome 
Curly Hair-Acral Keratoderma-Caries Syndrome 
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome  
Currarino syndrome  
Cushing Syndrome +   
Cutis Laxa-Marfanoid Syndrome 
Cutis Verticis Gyrata and Mental Deficiency 
Cyclic Vomiting Syndrome +   
Cyprus Facial Neuromusculoskeletal Syndrome 
cystic fibrosis +   
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality 
cytochrome-c oxidase deficiency disease +   
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, Autosomal Dominant Nonsyndromic Sensorineural 3 
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 53 
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY  
Deafness, Congenital Onychodystrophy, Recessive Form 
deafness, dystonia, and cerebral hypomyelination  
Deafness, Nephritis, Anorectal Malformation 
Deafness, Neurosensory, Autosomal Recessive 47 
Deafness, with Smith-Magenis Syndrome  
Deafness-Craniofacial Syndrome 
deafness-dystonia-optic neuronopathy syndrome  
A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria. (DO)
Deafness-Hypogonadism Syndrome 
deafness-intellectual disability, Martin-Probst type syndrome  
Deafness-Oligodontia Syndrome 
Deal Barratt Dillon Syndrome 
DEEAH Syndrome  
Delpire-McNeill Syndrome  
Dementia/Parkinsonism with Non-Alzheimer Amyloid Plaques 
dengue shock syndrome 
Dennis Fairhurst Moore Syndrome 
Denys-Drash syndrome  
Deoxyguanosine Kinase Deficiency  
Der Kaloustian Mcintosh Silver Syndrome 
Dermal Ridges, Nelson Syndrome 
DeSanto-Shinawi syndrome  
developmental and epileptic encephalopathy 39  
developmental and epileptic encephalopathy 9  
DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES  
DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES  
Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities  
developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome 
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
Devriendt syndrome 
Dianzani Autoimmune Lymphoproliferative Syndrome 
Diarrhea prodrome + Hemolytic-Uremic Syndrome  
dicarboxylic aminoaciduria  
DICER1 syndrome  
Diets-Jongmans Syndrome  
diffuse infiltrative lymphocytosis syndrome 
Diffuse Neurofibrillary Tangles with Calcification 
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome  
Dincsoy Salih Patel Syndrome 
diphthamide deficiency syndrome 1  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
distal arthrogryposis type 7  
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 
Distal Transverse Limb Defects with Mental Retardation and Spasticity 
Distal Trisomy 10q Syndrome 
DK Phocomelia Syndrome 
dominant optic atrophy plus syndrome  
Donnai-Barrow syndrome  
Donohue syndrome  
DOORS syndrome  
dopamine transporter deficiency syndrome +   
Down syndrome +   
Drachtman Weinblatt Sitarz Syndrome 
dropped head syndrome 
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 
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Dysmyelination with Jaundice 
dysplastic nevus syndrome  
dystonia 12  
dystonia 21 
Dystonia 22, Adult-Onset  
Dystonia 22, Juvenile-Onset  
Dystonia 28, Childhood-onset  
Dystonia 30  
Dystonia 31  
Dystonia 32  
Dystonia 33  
Dystonia 35, Childhood-Onset  
Dystonia 37, Early-Onset, with Striatal Lesions  
dystonia 5  
dystonia 9  
Dystonia with Cerebellar Atrophy 
Dystonia with Ringbinden 
Eagle Syndrome 
early-onset dystonia and/or spastic paraplegia  
EAST syndrome  
ectodermal dysplasia +   
Ectodermal Dysplasia, Mental Retardation, Syndactyly 
Ectodermal Dysplasia-Skin Fragility Syndrome  
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Ectrodactyly-Cleft Palate Syndrome 
EDICT Syndrome  
Edinburgh Malformation Syndrome 
EEC syndrome +   
Ehlers-Danlos syndrome +   
electroclinical syndrome +   
Elliott Ludman Teebi Syndrome 
Ellis Yale Winter Syndrome 
Elsahy-Waters syndrome  
Emanuel Syndrome 
empty sella syndrome +   
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +   
encephalopathy due to defective mitochondrial and peroxisomal fission 1  
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
endocrine-cerebro-osteodysplasia syndrome  
enhanced S-cone syndrome  
epidermolysis bullosa simplex with muscular dystrophy  
Epilepsy Telangiectasia 
episodic kinesigenic dyskinesia 1  
episodic kinesigenic dyskinesia 2 
Episodic Kinesigenic Dyskinesia 3  
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy  
ethylmalonic encephalopathy  
euthyroid sick syndrome  
Evans' syndrome +   
EVEN-PLUS SYNDROME  
exfoliation syndrome  
FACES Syndrome 
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
facial hemiatrophy 
Facio Thoraco Genital Syndrome 
Faciocardiomelic Syndrome 
Faciocardiorenal Syndrome 
Failed Back Surgery Syndrome 
Fallot Complex with Severe Mental and Growth Retardation 
Familial Antiphospholipid Syndrome 
Familial Convulsive Disorder with Prenatal or Early Onset 
Familial Hyperchylomicronemia Syndrome  
Fanconi syndrome +   
Fara Chlupackova Syndrome 
Faundes-Banka Syndrome  
Faye-Petersen Ward Carey Syndrome 
Feingold syndrome +   
Feingold Trainer Syndrome 
Feline Acquired Immunodeficiency Syndrome 
Felty's syndrome 
Female Athlete Triad Syndrome 
Femoral Facial Syndrome 
Femur Fibula Ulna Syndrome 
FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME  
fetal akinesia deformation sequence syndrome +   
fetal alcohol syndrome  
fetal encasement 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 
Filippi syndrome  
Fine-Lubinsky Syndrome  
Fitz-Hugh-Curtis Syndrome 
Fitzsimmons Walson Mellor Syndrome 
Fitzsimmons-Guilbert Syndrome 
Fitzsimmons-McLachlan-Gilbert syndrome 
Floating-Harbor syndrome  
FLOTCH Syndrome 
Flynn Aird Syndrome 
focal dystonia +   
Focal Epilepsy with Speech Disorder and with or without Mental Retardation  
Foix-Chavany-Marie Syndrome 
Forney Robinson Pascoe Syndrome  
Forsythe-Wakeling Syndrome 
Foster-Kennedy syndrome 
Fountain Syndrome 
foveal hypoplasia 1  
fragile X syndrome +   
Franceschini Vardeu Guala syndrome 
Frank-Ter Haar 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 +   
Frints De Smet Fabry Fryns Syndrome 
frontonasal dysplasia +   
frontonasal dysplasia 3  
Frontoocular Syndrome 
Frontotemporal Lobar Degeneration +   
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 
Gamstorp-Wohlfart syndrome  
GAPO syndrome  
Gardner Morrisson Abbot Syndrome 
Gardner Syndrome +   
Gardner-Diamond Syndrome 
Garret Tripp Syndrome 
Gas Bloat Syndrome 
Gastrocutaneous Syndrome 
Gay Feinmesser Cohen Syndrome 
Gemignani Syndrome 
generalized dystonia +   
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Genito Palato Cardiac Syndrome 
Genitopatellar Syndrome  
Genoa Syndrome 
German Syndrome 
geroderma osteodysplasticum  
Gerstmann syndrome 
Ghosal hematodiaphyseal syndrome  
Ghose Sachdev Kumar Syndrome 
Giacheti Syndrome 
Gilles de la Tourette syndrome +   
Gillespie syndrome  
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
Gitelman syndrome  
glaucomatous atrophy of optic disc 
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor  
GLUT1 Deficiency Syndrome  
Goldberg-Shprintzen syndrome  
Goldblatt Viljoen Syndrome 
Goldenhar syndrome +   
Goldstein Hutt Syndrome 
Gollop Coates Syndrome 
GOMBO Syndrome 
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
Goodpasture syndrome +   
Gorham's disease +   
Gorlin Bushkell Jensen Syndrome 
Gorlin Chaudhry Moss Syndrome 
GRACILE syndrome  
Graham Boyle Troxell Syndrome 
Granddad Syndrome 
Grange Syndrome  
Grant Syndrome 
gray platelet syndrome +   
Green Sandford Davison Syndrome 
Greig cephalopolysyndactyly syndrome  
Groll Hirschowitz Syndrome 
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Growth Hormone Insensitivity with Immune Dysregulation +   
Growth Mental Deficiency Syndrome of Myhre  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Grubben de Cock Borghgraef Syndrome 
Guillain-Barre syndrome +   
Gurrieri Sammito Bellussi Syndrome 
Guttmacher syndrome  
Hadziselimovic Syndrome 
Hagemoser Weinstein Bresnick Syndrome 
Hair Defect with Photosensitivity and Mental Retardation 
HAIR-AN syndrome 
Hajdu-Cheney syndrome  
Halal Setton Wang Syndrome 
Halal Syndrome 
Hall Riggs Mental Retardation Syndrome 
Hallermann-Streiff syndrome +  
Halperin-Birk Syndrome  
Hamamy Syndrome  
Hamanishi Ueba Tsuji Syndrome 
Hamano Tsukamoto Syndrome 
Hammer Toe Syndrome 
Hand-Arm Vibration Syndrome 
Hand-Foot Syndrome  
hand-foot-genital syndrome  
Hanhart Syndrome 
Hantavirus hemorrhagic fever with renal 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  
Hecht Scott Syndrome 
HELIX syndrome  
HELLP syndrome  
hemolytic-uremic syndrome +   
Hemorrhagic Shock and Encephalopathy Syndrome 
Hengel-Maroofian-Schols syndrome  
Hennekam syndrome +   
hepatic encephalopathy +   
hepatopulmonary syndrome  
hepatorenal syndrome  
hereditary alpha tryptasemia syndrome 
hereditary arterial and articular multiple calcification syndrome +   
hereditary fructose intolerance syndrome  
Hereditary Neoplastic Syndromes +   
Hereditary Optic Atrophies +   
hereditary spastic paraplegia 11  
hereditary spastic paraplegia 14 
hereditary spastic paraplegia 18  
hereditary spastic paraplegia 32 
Hernandez Aguirre-Negrete Syndrome 
Hernandez Fragoso Syndrome 
herpes zoster oticus 
Herrmann Syndrome 
Hersh Podruch Weisskopk Syndrome 
Hhhh Syndrome 
HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME  
HID Syndrome  
high myopia-sensorineural deafness syndrome  
high pressure neurological syndrome 
Hirata disease 
histiocytosis-lymphadenopathy plus syndrome  
Hittner Hirsch Kreh Syndrome  
HIV Enteropathy 
HIV Wasting Syndrome  
HIV-Associated Lipodystrophy Syndrome  
HMG-CoA synthase 2 deficiency  
Ho Kaufman Mcalister Syndrome 
holoprosencephaly +   
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
Holt-Oram syndrome  
Holzgreve-Wagner-Rehder syndrome 
Hooft Disease 
Hordnes Engebretsen Knudtson syndrome 
Horner's syndrome +  
Hoxha-Aliu syndrome  
Hoyeraal Hreidarsson Syndrome  
Humeroradial Multiple Synostosis Syndrome 
Hunt's Syndrome 
Hunter Carpenter Macdonald Syndrome 
Hunter-Macdonald Syndrome 
Hunter-McAlpine Syndrome 
Huntington's disease +   
Huntington's disease-like 2  
Huntington's Disease-Like Syndrome  
HUPRA Syndrome  
hydrolethalus syndrome +   
Hydroxylysinuria 
hypereosinophilic syndrome +   
hyperferritinemia-cataract syndrome  
Hyperimmunoglobulin G1(A1) Syndrome 
hyperinsulinism +   
Hyperkeratosis-Hyperpigmentation Syndrome 
Hyperleucine-Isoleucinemia 
Hyperlysinemia due to Defect in Lysine Transport into Mitochondria 
hypermanganesemia with dystonia +   
Hypermetabolism due to Defect in Mitochondria  
HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2  
hypermethioninemia due to adenosine kinase deficiency  
hypermobility syndrome 
hypertelorism, microtia, facial clefting syndrome 
hypertension and brachydactyly syndrome  
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
hypogonadotropic hypogonadism 23 with or without anosmia  
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 
HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY +   
hypomyelinating leukodystrophy 4  
hypoparathyroidism-retardation-dysmorphism syndrome  
hypophosphatasia +   
hypoplastic left heart syndrome +   
hypoplastic or aplastic tibia with polydactyly  
Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 
Hypospadias-Mental Retardation Syndrome 
hypothyroidism +   
hypotonia, ataxia, and delayed development syndrome  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES  
hypotonia-cystinuria syndrome  
hypotrichosis-lymphedema-telangiectasia syndrome +   
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome  
Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 
Ichthyosis and Male Hypogonadism 
Ichthyosis Cheek Eyebrow Syndrome 
Ichthyosis Prematurity Syndrome  
ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis  
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
Ichthyosis, Spastic Quadriplegia, and Mental Retardation  
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 
IFAP 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 
Indolylacroyl Glycinuria with Mental Retardation 
infancy electroclinical syndrome +   
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
infantile cerebellar-retinal degeneration  
Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase 
Infantile Hypotonia with Psychomotor Retardation +   
infantile liver failure syndrome +   
Infantile Multisystem Neurologic Disease with Osseous Fragility 
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA  
Intellectual Developmental Disorder with Autism and Dysmorphic Facies  
Intellectual Developmental Disorder with Autism and Macrocephaly  
Intellectual Developmental Disorder with Autism and Speech Delay  
intellectual developmental disorder with cardiac arrhythmia  
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES  
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 HYPERTELORISM AND DISTINCTIVE FACIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM  
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS  
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA  
Intellectual Developmental Disorder with Seizures and Language Delay  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS  
intellectual developmental disorder with short stature and behavioral abnormalities  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS  
Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy  
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type  
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES  
INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME  
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis  
INTELLECTUAL DISABILITY, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS  
Iridocorneal Endothelial Syndrome +  
iridogoniodysgenesis syndrome +   
Irons Bhan Syndrome 
irritable bowel syndrome  
Islet Cell Tumor Syndrome  
Isodicentric Chromosome 15 Syndrome  
isolated cleft palate  
Isotretinoin Embryopathy Like Syndrome 
ITM2B-related cerebral amyloid angiopathy 2  
IVIC syndrome  
Jaccoud's syndrome 
Jackson-Weiss syndrome  
Jaffer Beighton Syndrome 
Jagell Holmgren Hofer Syndrome 
Jalili syndrome  
Jet Lag Syndrome 
Johanson-Blizzard syndrome  
Johnson Munson Syndrome 
Johnston Aarons Schelley Syndrome 
Jones Hersh Yusk Syndrome 
Jones Syndrome 
Jorgenson Lenz Syndrome 
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 
Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous  
Jung Wolff Back Stahl Syndrome 
juvenile amyotrophic lateral sclerosis with dementia 
Juvenile-Onset Dystonia  
Kabuki syndrome +   
Kagami-Ogata syndrome  
Kahn-Kahn-Katsanis 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 
Kasabach-Merritt Syndrome +   
Kashani Strom Utley Syndrome 
Kasznica Carlson Coppedge Syndrome 
Katsantoni Papadakou Lagoyanni Syndrome 
Kaufman oculocerebrofacial syndrome  
Kawasaki disease  
KBG syndrome  
Kearns-Sayre syndrome  
Keipert syndrome  
Kennerknecht Sorgo Oberhoffer Syndrome 
Kenny-Caffey syndrome +   
Keppen-Lubinsky Syndrome  
Keratitis-Ichthyosis-Deafness Syndrome +   
Keutel Syndrome  
Khalifa Graham Syndrome 
Kilquist Syndrome  
King Denborough syndrome  
KINSSHIP syndrome  
Kleeblattschaedel Syndrome 
Kleefstra syndrome +   
Kleine-Levin syndrome  
Kleiner Holmes Syndrome 
Klinefelter syndrome  
Klippel-Feil syndrome +   
Klippel-Trenaunay syndrome  
Kluver-Bucy syndrome +  
Knobloch Syndrome +   
Kocher-Debre-Semelaigne Syndrome 
Kohlschutter-Tonz syndrome  
KOHLSCHUTTER-TONZ SYNDROME-LIKE  
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 +   
Lamb-Shaffer Syndrome  
Lambert Syndrome 
Lambotte Syndrome 
Landy Donnai Syndrome 
Laplane Fontaine Lagardere Syndrome 
Laron syndrome  
Larsen Syndromes +   
Late-Onset Carnitine Palmitoyltransferase II Deficiency  
Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation 
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 hereditary optic neuropathy +   
Leber hereditary optic neuropathy and dystonia  
Leber plus disease +   
Leichtman Wood Rohn Syndrome 
Lelis Syndrome 
Lenz-Majewski hyperostotic dwarfism  
Leriche Syndrome 
Lesch-Nyhan syndrome +   
lethal congenital contracture syndrome +   
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation  
Leukoencephalopathy with Dystonia and Motor Neuropathy  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Levator Syndrome 
Lewy body dementia +   
Li-Campeau Syndrome  
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME  
Liang-Wang Syndrome  
Liberfarb Syndrome  
Liddle syndrome +   
Limb-Mammary Syndrome  
lissencephaly 3 +   
lissencephaly 4  
locked-in syndrome 
long QT syndrome +   
loose anagen hair syndrome +   
Lopes Gorlin Syndrome 
Lopes-Maciel-Rodan Syndrome  
Lowry Maclean syndrome 
Lowry Wood Syndrome  
Lubani Al Saleh Teebi Syndrome 
Lubinsky Syndrome 
Lubs 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 
Maccario Mena Weir Syndrome 
MacDermot Winter Syndrome 
MacKay Shek Carr Syndrome 
Macleod Fraser syndrome 
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT  
macrocephaly-autism syndrome  
Macrophage Activation Syndrome  
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Maffucci syndrome  
Majeed Syndrome  
Malabsorption Syndromes +   
Male Hypogonadism with Mental Retardation and Skeletal Anomalies 
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 
Malignant Carcinoid Syndrome +  
Mallory-Weiss 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 Syndrome  
Marfan syndrome +   
Marfanoid Hypermobility Syndrome  
Marfanoid Mental Retardation Syndrome, Autosomal  
Marinesco-Sjogren syndrome  
Marles Greenberg Persaud Syndrome  
Maroteaux Fonfria Syndrome 
Marshall-Smith syndrome  
Marsili syndrome  
Martinez Monasterio Pinheiro Syndrome 
Martinez-Frias Syndrome  
Martsolf Syndrome +   
MASA syndrome  
MASS Syndrome  
Massa Casaer Ceulemans Syndrome 
MAST syndrome  
Masters-Allen syndrome 
Maternally Inherited Leigh Syndrome  
May-Thurner Syndrome 
Mayer-Rokitansky-Kuster-Hauser syndrome +   
McCune Albright syndrome  
McDonough Syndrome 
McKusick-Kaufman syndrome  
McPherson Clemens Syndrome 
McPherson Robertson Cammarano Syndrome 
Meacham Winn Culler Syndrome  
Meckel-Like Cerebrorenodigital Syndrome 
meconium aspiration syndrome  
Medial Medullary Syndrome 
Medial Tibial Stress Syndrome 
median arcuate ligament syndrome 
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 
MEDNIK syndrome  
Meester-Loeys syndrome  
megacystis-microcolon-intestinal hypoperistalsis syndrome +   
megalencephalic leukoencephalopathy with subcortical cysts 2B  
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability  
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome +   
Megarbane Jalkh Syndrome 
Megarbane Syndrome 
Mehes Syndrome 
MEHMO syndrome  
Mehta Lewis Patton Syndrome 
Meier-Gorlin syndrome +   
Meige syndrome 
Meigs Syndrome 
melanoma and neural system tumor syndrome  
Melanoma-Pancreatic Cancer Syndrome  
MELAS syndrome +   
Melhem Fahl Syndrome 
Melkersson-Rosenthal syndrome  
MEND syndrome  
Mengel Konigsmark Syndrome 
Menke-Hennekam 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 Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation with Spastic Paraplegia 
Mental Retardation Wolff Type  
Mental Retardation, Buenos Aires 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, Skeletal Dysplasia, and Abducens Palsy 
Merlob Grunebaum Reisner Syndrome 
MERRF Syndrome +   
Mesomelia-Synostoses Syndrome 
Metabolic Syndrome +   
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 
Methionine Malabsorption Syndrome 
Meyenburg-Altherr-Uehlinger Syndrome 
Michels Caskey Syndrome 
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly Albinism Digital Anomalies Syndrome 
Microcephaly and Chorioretinopathy +   
Microcephaly Deafness Syndrome 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
Microcephaly with Cervical Spine Fusion Anomalies 
Microcephaly with Mental Retardation and Digital Anomalies  
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
Microcephaly, Epilepsy, and Diabetes Syndrome +   
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 
microcephaly, growth deficiency, seizures, and brain malformations  
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange +   
Microcephaly, Macrotia, and Mental Retardation 
Microcephaly-Capillary Malformation Syndrome  
Microcephaly-Micromelia Syndrome  
Microphthalmia and Mental Deficiency 
middle lobe syndrome  
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis  
Miles-Carpenter syndrome +   
Milner Khallouf Gibson Syndrome 
Mirhosseini-Holmes-Walton Syndrome 
Mirizzi Syndrome 
Mitchell-Riley Syndrome  
Mitochondrial Cardiomyopathy  
mitochondrial complex I deficiency +   
mitochondrial complex II deficiency +   
mitochondrial complex III deficiency +   
mitochondrial complex V (ATP synthase) deficiency +   
Mitochondrial Cytopathy +   
mitochondrial DNA depletion syndrome +   
mitochondrial DNA depletion syndrome 16B  
mitochondrial DNA depletion syndrome 8A  
Mitochondrial Dystonia  
Mitochondrial Myopathy with Lactic Acidosis  
Mitochondrial Phosphate Carrier Deficiency  
mitochondrial pyruvate carrier deficiency  
mixed connective tissue disease  
MLS syndrome +   
Moebius syndrome +   
Mollica Pavone Antener Syndrome 
Moloney Syndrome 
MOMES Syndrome 
monofixation syndrome 
Mononen-Karnes-Senac syndrome 
Morillo-Cucci Passarge Syndrome 
MORM Syndrome  
mosaic variegated aneuploidy syndrome +   
Motor Neuron Disease with Dementia and Ophthalmoplegia 
Mousa Al din Al Nassar Syndrome 
Mowat-Wilson syndrome  
Mucopolysaccharidosis-Plus Syndrome  
Muenke syndrome  
Mulchandani-Bhoj-Conlin syndrome 
mulibrey nanism  
Muller Barth Menger Syndrome 
multicentric carpotarsal osteolysis syndrome  
multicentric reticulohistiocytosis 
multifocal dystonia +   
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly  
multiple acyl-CoA dehydrogenase deficiency +   
multiple benign circumferential skin creases on limbs +   
multiple chemical sensitivity  
multiple congenital anomalies-hypotonia-seizures syndrome +   
multiple congenital anomalies-hypotonia-seizures syndrome 3  
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability  
multiple epiphyseal dysplasia with myopia and deafness  
multiple mitochondrial dysfunctions syndrome +   
multiple synostoses syndrome +   
multiple system atrophy +   
Multisystemic Smooth Muscle Dysfunction Syndrome  
Mungan Syndrome  
Murine Acquired Immunodeficiency Syndrome  
muscular dystrophy-dystroglycanopathy type B1  
muscular dystrophy-dystroglycanopathy type B14  
muscular dystrophy-dystroglycanopathy type B2  
muscular dystrophy-dystroglycanopathy type B3  
muscular dystrophy-dystroglycanopathy type B6  
myelodysplastic syndrome +   
myeloid leukemia associated with Down Syndrome  
myoclonic dystonia +   
Myoectodermal Gonadal Dysgenesis Syndrome  
myofascial pain syndrome +   
Myopathy with Giant Abnormal Mitochondria 
Myopathy, Cataract, Hypogonadism Syndrome 
Myotonia with Skeletal Abnormalities and Mental Retardation 
N syndrome 
Naguib-Richieri-Costa Syndrome 
nail-patella syndrome +   
Nakajo Syndrome  
Nance-Horan syndrome  
Nasopalpebral Lipoma Coloboma Syndrome  
Nasu-Hakola disease  
Nathalie Syndrome 
Nelson syndrome 
neonatal abstinence syndrome  
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome  
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification 
nephrotic syndrome +   
nerve compression syndrome +   
Netherton syndrome  
Neuhauser Daly Magnelli Syndrome 
Neuhauser Eichner Opitz Syndrome 
Neuhauser Syndrome 
Neurocutaneous Syndromes +   
Neurodegeneration with Ataxia and Late-Onset Optic Atrophy  
NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY  
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies  
NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES  
neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities  
neurodevelopmental disorder with hypotonia and speech delay  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills  
Neurofaciodigitorenal Syndrome 
neurooculocardiogenitourinary syndrome  
Neutropenic Enterocolitis  
NF1 Microduplication Syndrome 
Nguyen Syndrome 
Nicolaides Baraitser Syndrome  
Nicolau Syndrome 
Nievergelt Syndrome 
Nijmegen breakage syndrome +   
Nizon-Isidor Syndrome  
Noble Bass Sherman Syndrome 
Nodding Syndrome 
Non Ketotic Hyperglycinemia Syndrome 
non-syndromic intellectual disability +   
Noninsulin-Dependent Diabetes Mellitus with Deafness  
Nonkeratan-Sulfate-Excreting Morquio Syndrome 
nonprogressive cerebellar ataxia with mental retardation  
Noonan syndrome with multiple lentigines +   
Norman-Roberts syndrome  
Novak Syndrome 
O'Donnell-Luria-Rodan Syndrome  
Obesity Hypoventilation Syndrome 
Occipital Cortical Malformations  
oculoauricular syndrome  
Oculoauriculofrontonasal Syndrome 
Oculocerebrocutaneous Syndrome 
oculocerebrorenal syndrome +   
oculocutaneous albinism +   
Oculodental Syndrome Rutherfurd Syndrome 
oculodentodigital dysplasia +   
Oculopalatocerebral Syndrome 
Oculorenocerebellar Syndrome 
Odontoma Dysphagia Syndrome 
Odontotrichoungual-Digital-Palmar Syndrome 
Ogden syndrome  
Ohdo syndrome +   
Okur-Chung Neurodevelopmental Syndrome  
Oligodontia-Colorectal Cancer Syndrome  
Oliver Syndrome 
Oliver-McFarlane syndrome  
Ollier disease  
Omenn syndrome  
Onat Syndrome 
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME  
Onychotrichodysplasia and Neutropenia 
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 
Opitz Reynolds Fitzgerald syndrome 
Opsoclonus-Myoclonus Syndrome +   
optic atrophy 1  
optic atrophy 10  
Optic Atrophy Spastic Paraplegia Syndrome 
Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant 
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME  
ornithine translocase deficiency  
orofacial cleft +   
orofaciodigital syndrome +   
Osebold Skeletal Dysplasia Osteolysis Syndrome 
Oslam syndrome 
Osteolysis Syndrome, Recessive 
Osteootohepatoenteric Syndrome  
Osteopenic Nonfracture Syndrome 
osteoporosis-pseudoglioma syndrome  
Otofacioosseous-Gonadal Syndrome 
Otoonychoperoneal Syndrome 
ovarian hyperstimulation syndrome  
overactive bladder syndrome  
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 
Paganini-Miozzo syndrome  
Pagon Stephan Syndrome 
Paine Syndrome 
Palant Cleft Palate Syndrome 
palindromic rheumatism 
Pallister Killian Syndrome  
Pallister W Syndrome 
Pallister-Hall syndrome +   
Palmer Pagon Syndrome 
palmoplantar keratoderma-deafness syndrome  
palmoplantar keratoderma-esophageal carcinoma syndrome  
Pancoast tumor +  
pancreatic hypoplasia-diabetes-congenital heart disease syndrome  
PAPA syndrome  
Parana Hard Skin Syndrome 
Paraneoplastic Syndromes +   
parastremmatic dwarfism  
PARC Syndrome 
Parkinson's disease 14  
Parkinson's disease 15  
Parkinson's disease 25  
Parkinson's Disease, Mitochondrial  
paroxysmal nonkinesigenic dyskinesia 1  
paroxysmal nonkinesigenic dyskinesia 2 
paroxysmal nonkinesigenic dyskinesia 3  
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 
Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome  
Partial Duplication 15q Syndrome 
partial fetal alcohol syndrome 
partial optic atrophy 
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 +   
PEHO syndrome  
Pellagra like Syndrome 
Pendred syndrome  
Penttinen-Aula Syndrome  
periodic limb movement disorder 
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 
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 
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 
photosensitive trichothiodystrophy 1  
Piepkorn Karp Hickok syndrome 
Pierpont syndrome  
pigment dispersion syndrome  
Pilarowski-Bjornsson Syndrome  
Pilotto Syndrome 
Pinheiro Freire-Maia Miranda Syndrome 
Piriformis Muscle Syndrome +  
Pitt-Hopkins syndrome +   
Pituitary Stalk Interruption Syndrome  
Piussan Lenaerts Mathieu syndrome 
plasminogen deficiency type I  
Plica syndrome 
Plummer-Vinson Syndrome 
Podder-Tolmie Syndrome 
POEMS syndrome  
Pointer Syndrome 
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME  
Poland syndrome 
polycystic ovary syndrome +   
Polydactyly Myopia Syndrome 
Polyendocrine-Polyneuropathy Syndrome  
polyhydramnios, megalencephaly, and symptomatic epilepsy  
Polyosteolysis-Hyperostosis Syndrome 
Porcine Postweaning Multisystemic Wasting Syndrome  
Porcine Reproductive and Respiratory Syndrome  
PORETTI-BOLTSHAUSER SYNDROME  
post-cardiac arrest syndrome 
Post-Concussion Syndrome 
post-thrombotic syndrome 
postaxial acrofacial dysostosis  
postcholecystectomy syndrome 
Posterior Leukoencephalopathy Syndrome  
postgastrectomy syndrome +  
Postpericardiotomy Syndrome 
postpoliomyelitis syndrome 
postural orthostatic tachycardia syndrome 
Potter's syndrome 
Poult Enteritis Mortality Syndrome 
Powell Chandra Saal Syndrome 
Powell Venencie Gordon syndrome 
Prader-Willi syndrome +   
Prata Libéral Gonçalves Syndrome 
Pre-Excitation Syndromes +   
Preeyasombat Varavithya Syndrome 
Presenile Dementia, Kraepelin Type 
Presumed Ocular Histoplasmosis Syndrome  
Prieto syndrome  
primary hypertrophic osteoarthropathy +   
primary immunodeficiency disease +   
primary optic atrophy 
Primrose Syndrome  
progeroid syndrome +   
Progressive Encephalopathy with Amyotrophy and Optic Atrophy  
Progressive External Ophthalmoplegia with Hypogonadism 
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency 
progressive osseous heteroplasia  
Progressive Vitiligo with Mental Retardation and Urethral Duplication 
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome  
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation 
Propofol Infusion Syndrome  
proprotein convertase 1/3 deficiency  
proteosome-associated autoinflammatory syndrome +   
Proximal Myopathy with Focal Depletion of Mitochondria 
Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation  
proximal symphalangism +   
prune belly syndrome +   
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 
Pseudo-TORCH Syndrome +   
Pseudo-Zellweger Syndrome  
Pseudoaminopterin Syndrome 
pseudobulbar palsy +   
Pseudouridinuria and Mental Defect 
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Qazi Markouizos syndrome 
Radio Renal Syndrome 
RADIO-TARTAGLIA SYNDROME  
Radioulnar Synostosis Retinal Pigment Abnormalities 
Rahman Syndrome  
Rajab Interstitial Lung Disease with Brain Calcifications +   
Rambaud Galian Syndrome 
Ramon Syndrome 
Ramos Arroyo Clark Syndrome 
Rapp-Hodgkin syndrome  
Rasmussen Johnsen Thomsen Syndrome 
RASopathy +   
RAUCH-STEINDL SYNDROME  
Ray Peterson Scott Syndrome 
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 
restless legs syndrome +   
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome  
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome  
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 
Retinohepatoendocrinologic Syndrome 
Rett syndrome +   
Revesz syndrome  
Reye 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 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, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED  
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant 
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome  
Rombo Syndrome 
Rommen Mueller Sybert Syndrome 
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 
Sackey Sakati Aur Syndrome 
Sacral Agenesis Syndrome 
SADDAN  
Saito Kuba Tsuruta Syndrome 
Sakati-Nyhan syndrome 
salt and pepper syndrome  
Sammartino De Crecchio Syndrome 
Samson Gardner Syndrome 
Samson Viljoen Syndrome 
Sanderson Fraser Syndrome 
Sandestig-Stefanova syndrome  
Sandhaus Ben-Ami Syndrome 
Sandifer Syndrome 
Santos Mateus Leal Syndrome 
Santos Syndrome 
Sao Paulo MCA/MR Syndrome 
SAPHO syndrome  
sarcosinemia  
SATB2-associated syndrome  
Satoyoshi Syndrome 
Say Barber Miller Syndrome 
Say Field Coldwell Syndrome 
Say Meyer Syndrome  
Say Syndrome 
Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development  
SCARF Syndrome 
Schaaf-Yang syndrome  
Schaap Taylor Baraitser Syndrome 
Schaefer Stein Oshman Syndrome 
Scheie syndrome  
Schimke X-Linked Mental Retardation Syndrome 
Schinzel Giedion syndrome  
Schinzel type phocomelia  
Schlegelberger Grote Syndrome 
Schmid-Fraccaro Syndrome  
Schofer Beetz Bohl Syndrome 
Scholte Syndrome 
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Schuurs-Hoeijmakers syndrome  
Schwartz Cohen-Addad Lambert Syndrome 
Schwartz-Jampel syndrome 1  
Schwartz-Lelek Syndrome  
Schweitzer Kemink Graham Syndrome 
scimitar syndrome +   
Sclerosing Bone Dysplasia, Mental Retardation 
Scott syndrome  
Sd(a) POLYAGGLUTINATION SYNDROME  
seasonal affective disorder 
Seaver Cassidy Syndrome 
Seckel syndrome +   
Seckel Syndrome 3 
Seckel syndrome 4  
Second Metatarsal-Metacarpal Syndrome 
Seemanova Lesny Syndrome 
Segawa Syndrome, Autosomal Recessive  
segmental dystonia +   
Seizures, Cortical Blindness, and Microcephaly Syndrome  
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME  
Selig Benacerraf Greene Syndrome 
Sener Syndrome 
Senior-Loken syndrome +   
Sensorineural Deafness and Migraine  
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
Seow Najjar Syndrome 
sepiapterin reductase deficiency  
septooptic dysplasia +   
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 
Shaheen Syndrome  
Shaken Baby Syndrome 
Shapiro Syndrome 
Sharma Kapoor Ramji Syndrome 
Shashi-Pena Syndrome  
Sheehan syndrome 
short QT syndrome +   
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures  
short stature, hearing loss, retinitis pigmentosa, and distinctive facies  
Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES  
Short Stature-Obesity Syndrome 
SHORT syndrome  
shoulder impingement syndrome 
Shprintzen Omphalocele Syndrome 
Shukla-Vernon syndrome  
sick building syndrome  
sick sinus syndrome +   
Siddiqi 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 type 1  
Simpson-Golabi-Behmel syndrome type 2  
Singh Chhaparwal Dhanda Syndrome 
Singleton Merten Syndrome +   
Sinus Tarsi Syndrome 
Sjogren-Larsson syndrome +   
Sjogren-Larsson-like Syndrome 
Sjögren-Mikulicz Syndrome  
Skeletal Defects, Genital Hypoplasia, And Mental Retardation  
Sketetal Dysplasia Coarse Facies Mental Retardation  
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  
Snijders Blok-Campeau Syndrome  
Sohval Soffer Syndrome 
Sonoda Syndrome 
Sotos syndrome +   
spastic ataxia +   
Spastic Diplegia Infantile Type 
Spastic Paraplegia and Evans Syndrome 
spastic paraplegia with deafness 
Spastic Paraplegia, Ataxia, and Mental Retardation 
Spastic Paraplegia, Epilepsy, Mental Retardation 
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY  
Spastic Paraplegia, Optic Atrophy, and Dementia 
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 
Spinocerebellar Ataxia with Epilepsy  
SPOAN syndrome  
spondylocarpotarsal synostosis syndrome  
spondylocostal dysostosis 1  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepimetaphyseal dysplasia, Genevieve-type  
spondyloepimetaphyseal dysplasia, Strudwick type  
spondyloepiphyseal dysplasia tarda with intellectual disability 
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability 
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis  
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 type X-linked intellectual disability  
Stoelinga de Koomen Davis Syndrome 
Stoll Alembik Dott Syndrome 
Stoll Levy Francfort Syndrome 
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
Storm Syndrome 
Stormorken syndrome  
Stratton-Parker Syndrome 
Stromme syndrome  
STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS  
Structural Heart Defects and Renal Anomalies Syndrome  
Stuve-Wiedemann Syndrome +   
subclavian steal syndrome 
Succinate-Coa Ligase Deficiency +   
Sucrosuria, Hiatus Hernia and Mental Retardation 
sudden infant death syndrome +   
Sudden Unexpected Nocturnal Death Syndrome  
SULEIMAN-EL-HATTAB SYNDROME  
Summitt Syndrome 
SUNCT Syndrome 
superior mesenteric artery syndrome +  
Superior Vena Cava Syndrome  
Supernumerary Der(22)t(8;22) Syndrome 
supine hypotensive syndrome 
Susac Syndrome 
Sweeney-Cox syndrome  
Sweet syndrome  
Syndactyly-Polydactyly-Earlobe Syndrome 
syndactyly-telecanthus-anogenital and renal malformations syndrome  
syndromic intellectual disability +   
syndromic X-linked intellectual disability Abidi type 
syndromic X-linked intellectual disability Siderius type  
syndromic X-linked intellectual disability Turner type  
Systemic Inflammatory Response Syndrome +   
Tabatznik Syndrome 
Takenouchi-Kosaki Syndrome  
Tamari Goodman Syndrome 
Tang Hsi Ryu Syndrome 
TANGO2-related metabolic encephalopathy and arrythmias  
Tatton-Brown-Rahman syndrome  
Taylor's syndrome 
Teebi hypertelorism syndrome +   
Teebi Kaurah Syndrome 
Teebi Naguib Al Awadi syndrome 
Teebi Shaltout Syndrome 
Tel Hashomer Camptodactyly Syndrome 
Telfer Sugar Jaeger Syndrome 
Temple syndrome 
Temple-Baraitser syndrome  
Temporomandibular Joint Dysfunction Syndrome  
temtamy preaxial brachydactyly syndrome  
Temtamy syndrome  
Tenorio Syndrome  
terminal osseous dysplasia  
tethered spinal cord syndrome  
tetraamelia syndrome +   
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 
Thrombocytopenia Absent Ulnar Syndrome 
Thyrocerebral-Retinal Syndrome 
thyroid hormone resistance syndrome +   
Tietz syndrome  
Tietze's syndrome  
Tn polyagglutination syndrome  
Tolchin-Le Caignec Syndrome  
Tollner Horst Manzke Syndrome 
Tolosa-Hunt syndrome +  
Tonoki Syndrome 
tooth and nail syndrome  
TORCH syndrome 
torsion dystonia 17 
Townes-Brocks syndrome +   
toxic encephalopathy +   
Tranebjaerg Svejgaard syndrome 
transient global amnesia 
Treacher Collins syndrome +   
Treft Sanborn Carey Syndrome 
Trichodental Syndrome 
trichodontoosseous syndrome  
trichohepatoenteric syndrome +   
Trichohepatoneurodevelopmental Syndrome  
Trichorhinophalangeal Syndrome +   
trichothiodystrophy +   
trigeminal neuralgia  
Triple X Syndrome  
triple-A syndrome  
Trisomy 18-Like Syndrome 
Trueb Burg Bottani Syndrome 
Tryptophanuria with Dwarfism 
Tsukahara Syndrome  
Tucker Syndrome 
Tukel syndrome 
Tumor Lysis Syndrome  
Tumor Predisposition Syndrome +   
Tunglang Savage Bellman Syndrome 
Turner syndrome +   
Ulna Metaphyseal Dysplasia Syndrome 
Ulnar Hypoplasia with Mental Retardation 
ulnar-mammary syndrome  
Uncombable Hair Syndrome +   
Upton Young Syndrome 
Urban Schosser Spohn Syndrome  
urethral syndrome 
Urioste Martinez-Frias Syndrome 
urofacial syndrome +   
Uruguay faciocardiomusculoskeletal syndrome  
Usher syndrome +   
UV-sensitive syndrome +   
uveal coloboma-cleft lip and palate-intellectual disability  
VACTERL association +   
Van Bogaert-Hozay Syndrome 
Van Den Bosch Syndrome 
Van den Ende-Gupta syndrome  
Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome 
Van der Woude syndrome +   
Van Maldergem syndrome +   
vascular dementia +   
Vasquez Hurst Sotos Syndrome 
VDAC Deficiency 
Velofacioskeletal Syndrome 
ventriculomegaly - cystic kidney disease  
Verheij Syndrome  
Verloes Gillerot Fryns Syndrome 
Verloes Van Maldergem Marneffe Syndrome 
Verloove-Vanhorick Brubakk Syndrome 
vertebral anomalies and variable endocrine and T-cell dysfunction  
vertebral artery insufficiency +  
vertebral hypersegmentation and orofacial anomalies  
VERVERI-BRADY SYNDROME  
very long chain acyl-CoA dehydrogenase deficiency  
Vici syndrome  
Viljoen Kallis Voges Syndrome 
visceral heterotaxy +   
Vissers-Bodmer syndrome  
Vogt-Koyanagi-Harada disease  
Vohwinkel syndrome  
Volcke Soekarman Syndrome 
Waaler Aarskog Syndrome 
Waardenburg syndrome +   
WAGR syndrome +   
Waisman 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 +  
Weill-Marchesani syndrome +   
Weinstein Kliman Scully Syndrome 
Weismann Netter Syndrome 
Weissenbacher-Zweymuller syndrome +   
Wellesley Carmen French Syndrome 
Wells 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 
Wiedemann-Steiner syndrome  
Williams-Beuren syndrome +   
Wilson-Turner syndrome  
Winchester syndrome  
Winship Viljoen Leary Syndrome 
Winter Harding Hyde Syndrome 
Winter Shortland Temple Syndrome  
Wissler-Fanconi syndrome 
Wittwer Syndrome  
Wolcott-Rallison syndrome  
Wolfram syndrome +   
Wolfram syndrome 2  
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 Intellectual Developmental Disorders +   
X-linked intellectual disability-psychosis-macroorchidism syndrome  
X-linked mental retardation Gustavson type  
X-linked retinitis pigmentosa and sinorespiratory infections  
xeroderma pigmentosum +   
Xia-Gibbs syndrome  
YAO SYNDROME  
yellow nail syndrome +  
Yemenite Deaf-Blind Hypopigmentation Syndrome 
Yoon-Bellen neurodevelopmental syndrome  
YOU-HOOVER-FONG SYNDROME  
Young Hughes Syndrome 
Young Syndrome  
Yunis-Varon syndrome  
Zadik Barak Levin Syndrome 
Zaki 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  

Synonyms
Exact Synonyms: DDP ;   DDS ;   Jensen syndrome ;   MTS ;   Mohr-Tranebjaerg syndrome ;   Mohr-Tranebjærg Syndrome ;   deafness (DFN-1) dystonia, mental deficiency and blindness ;   deafness dystonia syndrome ;   deafness-dystonia-optic atrophy syndrome ;   nerve deafness, optic nerve atrophy, and dementia ;   opticoacoustic nerve atrophy with dementia ;   opticoacustic nerve atrophy with dementia ;   progressive deafness syndrome with blindness, dystonia, fractures, and mental deficiency ;   syndrome of opticoacoustic nerve atrophy with dementia
Primary IDs: MESH:C535808 ;   MESH:C537568
Alternate IDs: DOID:0050867 ;   OMIM:304700
Xrefs: ORDO:3213
Definition Sources: http://en.wikipedia.org/wiki/Mohr%E2%80%93Tranebj%C3%A6rg_syndrome "DO" "DO", http://ghr.nlm.nih.gov/condition/deafness-dystonia-optic-neuronopathy-syndrome "DO" "DO", http://omim.org/entry/304700 "DO" "DO", http://www.ncbi.nlm.nih.gov/books/NBK1216/ "DO" "DO"

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