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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 
AMED syndrome  
Amyotrophic Dystonic Paraplegia 
Aphalangia Syndactyly Microcephaly 
Arboleda-Tham syndrome  
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  
Braddock Carey Syndrome +   
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 
Cephalin Lipidosis 
Cerebellar Atrophy with Seizures and Variable Developmental Delay  
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM  
cerebellar hypoplasia +   
cerebellofaciodental syndrome  
Chanarin-Dorfman syndrome +   
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities  
childhood-onset GLUT1 deficiency syndrome 2  
Chitayat Moore Del Bigio Syndrome 
Chitty Hall Baraitser Syndrome 
Chitty Hall Webb Syndrome 
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  
Cleft Palate, Proliferative Retinopathy, and Developmental Delay  
CODAS syndrome  
Coffin Syndrome 1 
Cohen syndrome  
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
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 limbs-face contractures-hypotonia-developmental delay syndrome  
Congenital Myopathy with Neuropathy and Deafness  
Congenital Progeroid Syndrome, Petty Type  
Cote Katsantoni Syndrome 
Cousin Syndrome  
Coxoauricular Syndrome 
CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY  
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, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY  
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
Deafness, Congenital Onychodystrophy, Recessive Form 
DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY  
Deafness, with Smith-Magenis Syndrome  
deafness-dystonia-optic neuronopathy syndrome  
Der Kaloustian Mcintosh Silver Syndrome 
Dermoids of Cornea 
DeSanto-Shinawi syndrome  
DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES  
Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities  
Developmental Delay with or without Dysmorphic Facies and Autism  
DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES  
DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS  
developmental delay, hypotonia, and impaired language  
DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES  
developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome 
DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY  
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES  
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
Developmental Delay, Language Impairment, and Ocular Abnormalities  
Devriendt syndrome 
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome  
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2  
diphthamide deficiency syndrome +   
diphthamide deficiency syndrome 1  
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  
dopamine transporter deficiency syndrome +   
Dubowitz syndrome  
Dyschondrosteosis and Nephritis 
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 
dystonia, DOPA-responsive  
early-onset dystonia and/or spastic paraplegia  
early-onset epilepsy 2  
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
Episodic Kinesigenic Dyskinesia +   
episodic kinesigenic dyskinesia 3  
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 Cardiac Lipidosis 
Farber lipogranulomatosis  
Faundes-Banka Syndrome  
Fetal Growth Retardation +   
Filippi syndrome  
Fine-Lubinsky Syndrome  
Floating-Harbor syndrome  
focal dystonia +   
Forebrain Defects  
Forsythe-Wakeling Syndrome 
Fountain Syndrome 
Frank-Ter Haar syndrome  
Frias Syndrome 
Game Friedman Paradice Syndrome 
GAPO 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 WITH SPEECH AND BEHAVIORAL ABNORMALITIES  
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 +   
Glycosylphosphatidylinositol Biosynthesis Defect 25  
GOMBO Syndrome 
Gomez Lopez Hernandez Syndrome 
Goniodysgenesis-Mental Retardation-Short Stature 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 Mental Deficiency Syndrome of Myhre  
GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES  
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 Weisskopf Syndrome 
Heyn-Sproul-Jackson Syndrome  
HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME  
high myopia-sensorineural deafness syndrome  
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 
Hooft Disease 
Hunter-McAlpine Syndrome 
Hutterite Cerebroosteonephrodysplasia Syndrome 
Hypergonadotropic Gonadal Dysgenesis XX Type, Short Stature, and Recurrent Metabolic Acidosis 
Hyperlipoproteinemia Type II, and Deafness 
hypermanganesemia with dystonia +   
hypermethioninemia due to adenosine kinase deficiency  
HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 
Hypokalemic Tubulopathy 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  
IGF1R-RELATED DISORDER  
Immunodeficiency 78 with Autoimmunity and Developmental Delay  
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, 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  
Keipert syndrome  
Keppen-Lubinsky Syndrome  
Keratitis-Ichthyosis-Deafness Syndrome +   
KINSSHIP syndrome  
KOHLSCHUTTER-TONZ SYNDROME-LIKE  
Konigsmark Knox Hussels Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
KURY-ISIDOR 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  
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Li-Campeau Syndrome  
Lowry Maclean syndrome 
Lowry Wood Syndrome  
Luscan-Lumish Syndrome  
Lynch Lee Murday syndrome 
lysosomal acid lipase deficiency +   
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 
Meyenburg-Altherr-Uehlinger Syndrome 
Microcephaly Deafness Syndrome 
Microcephaly with Cervical Spine Fusion Anomalies 
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 +   
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 
Mosaic Variegated Aneuploidy Syndrome 5  
Mosaic Variegated Aneuploidy Syndrome 6  
Muckle-Wells syndrome  
mucolipidosis +   
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 with Deafness and Urinary Tract and Digital Malformations 
NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES  
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies  
NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES  
Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY  
neurodevelopmental disorder with poor growth and behavioral abnormalities  
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES  
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss  
neurodevelopmental disorder with spasticity and poor growth  
Neurofaciodigitorenal Syndrome 
neuronal ceroid lipofuscinosis +   
Neurovisceral Storage Disease with Curvilinear Bodies 
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 
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME  
Opticocochleodentate Degeneration 
Osteolysis Syndrome, Recessive 
Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay  
osteosclerotic metaphyseal dysplasia  
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures  
Parkinson's disease 14  
paroxysmal nonkinesigenic dyskinesia 1  
paroxysmal nonkinesigenic dyskinesia 2 
paroxysmal nonkinesigenic dyskinesia 3  
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 
Phospholipidosis  
Pierpont syndrome  
Pili Torti, Developmental Delay, Neurological Abnormalities  
Pilotto Syndrome 
Polydysspondyly 
Premature Aging, Okamoto Type 
Progeria Short Stature Pigmented Nevi 
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 
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 AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS  
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, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES  
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly  
SHORT STATURE-MICROGNATHIA SYNDROME  
SHORT syndrome  
SHOX-related short stature  
Siddiqi syndrome  
A lipid storage disease that is characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index and that has_material_basis_in homozygous or compound heterozygous mutation in the FITM2 gene on chromosome 20q13. (DO)
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Silver-Russell Syndrome 3  
Sinoatrial Node Dysfunction and Deafness  
Sjogren-Larsson syndrome +   
Slavotinek Pike Mills Hurst Syndrome 
Snijders Blok-Fisher Syndrome  
Sonoda Syndrome 
spastic paraplegia with deafness 
sphingolipidosis +   
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepimetaphyseal dysplasia, Pakistani type  
spondylometaphyseal dysplasia corner fracture type  
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type  
steatotic liver disease +   
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 
Thumb Agenesis, Short Stature, and Immunodeficiency 
Tietz syndrome  
Tonoki Syndrome 
torsion dystonia 17 
Tremor of Intention, Ataxia, and Lipofuscinosis 
TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME  
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 
Wiedemann Grosse Dibbern Syndrome 
Wiedemann-Steiner syndrome  
Winchester syndrome  
Wittwer Syndrome  
Wright Dyck Syndrome 
X-linked Alport syndrome  
X-linked mental retardation Gustavson type  
X-linked mental retardation-hypotonic facies syndrome-1  
X-linked retinitis pigmentosa and sinorespiratory infections  
xanthomatosis +   
XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME  
Yemenite Deaf-Blind Hypopigmentation Syndrome 
Young Hughes Syndrome 
Zaki syndrome  
Zerres Rietschel Majewski Syndrome 
ZIEGLER-HUANG SYNDROME  

Synonyms
Exact Synonyms: SIDDIS ;   deafness, dystonia, developmental delay, and poor growth
Alternate IDs: DOID:9002405
Xrefs: EFO:0010633 ;   MIM:618635 ;   MONDO:0032842
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/28067622/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/30214770/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/35754111/ "DO" "DO"

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