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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Deafness +     
dystonia +     
Growth Disorders +     
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  
3MC syndrome 3  
3p deletion syndrome 
Absence of Tibia with Congenital Deafness 
Abuse Dwarfism Syndrome 
Acid-Labile Subunit Deficiency  
acrocapitofemoral dysplasia  
Acrocephalopolydactylous Dysplasia 
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
AGAT deficiency  
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
Al Gazali Khidr Prem Chandran Syndrome 
Al Gazali Sabrinathan Nair Syndrome 
Al Kaissi Syndrome  
Albinism Deafness Syndrome 
Amyotrophic Dystonic Paraplegia 
Aphalangia Syndactyly Microcephaly 
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Auriculoosteodysplasia 
autosomal dominant congenital deafness with onychodystrophy  
autosomal dominant nonsyndromic deafness 65  
Ayazi Syndrome 
Ayme-Gripp syndrome  
Bagatelle Cassidy syndrome 
Bainbridge-Ropers Syndrome  
Beaulieu-Boycott-Innes Syndrome  
Beck-Fahrner Syndrome  
Bellini Chiumello Rimoldi Syndrome 
Berk-Tabatznik Syndrome 
Bhaskar Jagannathan Syndrome 
Bilateral Striatal Necrosis with Dystonia  
Blepharophimosis with Ptosis, Syndactyly, and Short Stature 
Borjeson-Forssman-Lehmann syndrome  
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome  
Boudhina Yedes Khiari syndrome 
Brachycephaly, Trichomegaly, and Developmental Delay  
brachydactyly type E2  
Branchiogenic-Deafness Syndrome 
Burn-McKeown syndrome  
Cantalamessa Baldini Ambrosi Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
Cardioauditory Syndrome of Sanchez Cascos 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
Cerebellar Atrophy with Seizures and Variable Developmental Delay  
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
cerebellar hypoplasia +   
Cerebellofaciodental Syndrome  
childhood onset GLUT1 deficiency syndrome 2  
Chitayat Moore Del Bigio Syndrome 
Chitty Hall Baraitser Syndrome 
Chitty Hall Webb Syndrome 
Chondrodysplasia, Megarbane-Dagher-Melki Type  
chromosome 13q14 deletion syndrome  
chromosome 15q26-qter deletion syndrome 
chromosome 17p13.3 duplication syndrome  
chromosome 17q11.2 deletion syndrome  
Chromosome 18 Pericentric Inversion 
chromosome 3q29 microdeletion syndrome 
chromosome Xp11.23-p11.22 duplication syndrome 
Clark-Baraitser syndrome  
CODAS syndrome  
Coffin Syndrome 1 
Cohen syndrome  
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
Congenital Deafness and Familial Myoclonic Epilepsy 
Congenital Deafness, with Vitiligo and Achalasia 
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder  
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies  
Congenital Myopathy with Neuropathy and Deafness  
Cote Katsantoni Syndrome 
Cousin Syndrome  
Coxoauricular Syndrome 
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Crumpled Helices and Small Mouth 
Curatolo Cilio Pessagno Syndrome 
Daish Hardman Lamont Syndrome 
Davenport Donlan Syndrome 
Deaf-Blind Disorders +   
Deafness Hyperuricemia Neurologic Ataxia 
Deafness with Anhidrotic Ectodermal Dysplasia 
Deafness, Autosomal Dominant, due to Mutation In Myo1a 
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
Deafness, Congenital Onychodystrophy, Recessive Form 
Deafness, with Smith-Magenis Syndrome  
deafness-dystonia-optic neuronopathy syndrome  
Der Kaloustian Mcintosh Silver Syndrome 
Dermoids of Cornea 
Desanto-Shinawi Syndrome  
Developmental Delay with or without Dysmorphic Facies and Autism  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
Devriendt syndrome 
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
DNA ligase IV deficiency  
Dubowitz syndrome  
Dyschondrosteosis and Nephritis 
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
dystonia 12  
dystonia 21 
DYSTONIA 28, CHILDHOOD-ONSET  
dystonia 5  
dystonia 9  
Dystonia with Cerebellar Atrophy 
Dystonia with Ringbinden 
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES  
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY  
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
episodic kinesigenic dyskinesia 1  
episodic kinesigenic dyskinesia 2 
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
EVEN-PLUS SYNDROME  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Fallot Complex with Severe Mental and Growth Retardation 
Familial Osteochondritis Dissecans  
Fetal Growth Retardation +   
Filippi Syndrome  
Fine-Lubinsky Syndrome 
Floating-Harbor syndrome  
focal dystonia +   
Forebrain Defects  
Forsythe-Wakeling Syndrome 
Fountain Syndrome 
Fragile Site 16p12 
Frank-Ter Haar syndrome  
Frias Syndrome 
Game Friedman Paradice Syndrome 
Gay Feinmesser Cohen Syndrome 
geleophysic dysplasia +   
generalized dystonia +   
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones 
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor  
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
glycogen storage disease IX +   
GOMBO Syndrome 
Gomez Lopez Hernandez Syndrome 
Gonadal Dysgenesis, Hypergonadotropic, XX Type, Short Stature, and Recurrent Metabolic Acidosis 
Goniodysgenesis-Mental Retardation-Short Stature 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, Alopecia, Pseudoanodontia and Optic Atrophy  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Grubben de Cock Borghgraef Syndrome 
Hairy Elbows  
Heme Oxygenase 1 Deficiency  
hereditary spastic paraplegia 24 
hereditary spastic paraplegia 9A  
Herrmann Syndrome 
Hersh Podruch Weisskopk Syndrome 
Heyn-Sproul-Jackson Syndrome  
high myopia-sensorineural deafness syndrome  
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 
Hooft Disease 
Hunter-McAlpine Syndrome 
Hutterite Cerebroosteonephrodysplasia Syndrome 
Hyperlipoproteinemia Type II, and Deafness 
hypermanganesemia with dystonia +   
hypermethioninemia due to adenosine kinase deficiency  
HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 
hypoparathyroidism-retardation-dysmorphism syndrome  
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT  
Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
Idiopathic Short Stature, X-Linked  
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 
Insulin-Like Growth Factor I Deficiency  
Insulin-Like Growth Factor I, Resistance To  
Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein 
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA  
ITM2B-related cerebral amyloid angiopathy 2  
Johanson-Blizzard syndrome  
Johnson Neuroectodermal Syndrome 
Jones Syndrome 
Jorgenson Lenz Syndrome 
Juvenile-Onset Dystonia  
Kat6a Syndrome  
Keipert syndrome  
Keppen-Lubinsky Syndrome  
Keratitis-Ichthyosis-Deafness Syndrome +   
Konigsmark Knox Hussels Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Kuster Majewski Hammerstein Syndrome 
Ladda Zonana Ramer syndrome 
Lamb-Shaffer Syndrome  
Langer Mesomelic Dysplasia  
Larsen-like syndrome B3GAT3 type  
Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy  
Leber hereditary optic neuropathy and dystonia  
Leri-Weill dyschondrosteosis  
Leukoencephalopathy with Dystonia and Motor Neuropathy  
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Loucks-Innes Syndrome  
Lowry Maclean syndrome 
Lowry Wood Syndrome  
Luscan-Lumish syndrome  
Lynch Lee Murday syndrome 
Macrosomia Adiposa Congenita 
Madelung Deformity 
Malocclusion and Short Stature 
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome  
Megarbane Syndrome 
Meier-Gorlin syndrome +   
Mental and Growth Retardation with Amblyopia 
Mental Retardation Mietens Weber Type 
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1  
Meyenburg-Altherr-Uehlinger Syndrome 
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME  
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
microcephaly, seizures, and developmental delay  
Microcephaly, Short Stature, and Impaired Glucose Metabolism +   
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
Microdontia Hypodontia Short Stature 
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Milner Khallouf Gibson Syndrome 
Mitochondrial Dystonia  
Mitochondrial Myopathy with Lactic Acidosis  
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
Mollica Pavone Antener Syndrome 
Morillo-Cucci Passarge Syndrome 
Muckle-Wells syndrome  
multifocal dystonia +   
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
Multiple Synostoses Syndrome 1  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
myoclonic dystonia +   
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 
Myoclonus, Cerebellar Ataxia, and Deafness 
Nathalie Syndrome 
Neonatal Zinc Deficiency due to Low Breast Milk Zinc  
Nephrosis Deafness Urinary Tract Digital Malformation 
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH  
Neurofaciodigitorenal Syndrome 
Nijmegen Breakage Syndrome-Like Disorder  
Nizon-Isidor Syndrome  
Non-Lissencephalic Cortical Dysplasia 
Noninsulin-Dependent Diabetes Mellitus with Deafness  
nonsyndromic deafness +   
Obesity, Hyperphagia, and Developmental Delay  
Ogden syndrome  
Oliver-McFarlane syndrome  
Omodysplasia 1  
Onat Syndrome 
Opticocochleodentate Degeneration 
Osteolysis Syndrome, Recessive 
Osteosclerotic Metaphyseal Dysplasia  
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES  
Parkinson's disease 14  
Parkinsonism-Dystonia, Infantile +   
paroxysmal nonkinesigenic dyskinesia 1  
paroxysmal nonkinesigenic dyskinesia 2 
Partington Anderson Syndrome 
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 
Periventricular Nodular Heterotopia 7  
Perrault syndrome +   
Peters plus syndrome  
Petty Laxova Wiedemann Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Palm Teller Syndrome 
Pierpont syndrome  
Pili Torti Developmental Delay Neurological Abnormalities  
Pilotto Syndrome 
Polydysspondyly 
Premature Aging, Okamoto Type 
Progeria Short Stature Pigmented Nevi 
Progeroid Syndrome, Congenital, Petty Type  
Pseudo-TORCH Syndrome +   
PSPH deficiency  
Qazi Markouizos syndrome 
Radioulnar Synostosis Retinal Pigment Abnormalities 
Rajab Interstitial Lung Disease with Brain Calcifications +   
Rajab Interstitial Lung Disease with Brain Calcifications 1  
Ramon Syndrome 
Ramos Arroyo Clark Syndrome 
Reardon Wilson Cavanagh Syndrome 
Refsum Disease with Increased Pipecolic Acidemia  
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay  
Ribbonlike Corneal Degeneration with Deafness 
Richards-Rundle Syndrome 
Rodrigues Blindness 
Roifman-Chitayat Syndrome 
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome  
Rommen Mueller Sybert Syndrome 
Rowley-Rosenberg Syndrome 
Ruijs-Aalfs syndrome  
Say Meyer Syndrome  
Say Syndrome 
Schaap Taylor Baraitser Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Schlegelberger Grote Syndrome 
Secretory Diarrhea, Myopathy, and Deafness 
Seemanova Lesny Syndrome 
Segawa Syndrome, Autosomal Recessive  
segmental dystonia +   
sepiapterin reductase deficiency  
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
Short Stature Syndrome, Brussels Type 
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
Short Stature, Developmental Delay, and Congenital Heart Defects  
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly  
SHORT syndrome  
SIDDIQI SYNDROME  
An autosomal recessive disorder characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index (BMI).
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Silver-Russell Syndrome 3  
Sinoatrial Node Dysfunction and Deafness  
Slavotinek Pike Mills Hurst Syndrome 
Snijders Blok-Fisher Syndrome  
Sonoda Syndrome 
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepimetaphyseal dysplasia, Pakistani type  
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type  
Stern Lubinsky Durrie Syndrome 
Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 
succinic semialdehyde dehydrogenase deficiency  
syndromic X-linked intellectual disability Cabezas type  
syndromic X-linked intellectual disability Turner type  
Synostosis of Talus and Calcaneus with Short Stature 
Tatton-Brown-Rahman Syndrome  
temtamy preaxial brachydactyly syndrome  
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
THAUVIN-ROBINET-FAIVRE SYNDROME  
Theodor Hertz Goodman Syndrome 
Thrombocytopenia Robin Sequence 
Thumb Agenesis, Short Stature, and Immunodeficiency 
Tietz syndrome  
Tonoki Syndrome 
torsion dystonia 17 
Tsukahara Syndrome  
Turnpenny-Fry Syndrome  
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 
Verheij Syndrome  
Vertebral Body Fusion Overgrowth 
VERVERI-BRADY SYNDROME  
Viljoen Kallis Voges Syndrome 
Volcke Soekarman Syndrome 
Weill-Marchesani Syndrome 2  
WEISS-KRUSZKA SYNDROME  
Wellesley Carmen French Syndrome 
Wells Jankovic Syndrome 
Wiedemann Grosse Dibbern Syndrome 
Winchester syndrome  
Wittwer Syndrome  
Wright Dyck Syndrome 
X-linked Alport syndrome  
X-Linked Mental Retardation Gustavson Type 
X-Linked Retinitis Pigmentosa, and Sinorespiratory Infections, with or without Deafness  
Yemenite Deaf-Blind Hypopigmentation Syndrome 
Young Hughes Syndrome 
Zerres Rietschel Majewski Syndrome 

Synonyms
Exact Synonyms: DEAFNESS, DYSTONIA, DEVELOPMENTAL DELAY, AND POOR GROWTH ;   SIDDIS
Primary IDs: OMIM:618635
Definition Sources: OMIM:618635

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.