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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
22q11 Deletion Syndrome +   
3MC syndrome +   
3MC syndrome 3  
Abuse Dwarfism Syndrome 
AGAT deficiency  
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Al Gazali Sabrinathan Nair Syndrome 
Alazami Syndrome  
Alazami-Yuan Syndrome  
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
AMED syndrome  
AMME complex 
Arboleda-Tham syndrome  
Arthrogryposis Multiplex Congenita Whistling Face 
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Asymmetric Short Stature Syndrome 
Axenfeld-Rieger syndrome type 1  
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations  
Bagatelle Cassidy Syndrome 
Bainbridge-Ropers syndrome  
Baker Vinters Syndrome 
Baraitser-Winter syndrome +   
Beaulieu-Boycott-Innes Syndrome  
Beck-Fahrner Syndrome  
Birk-Barel syndrome  
Blepharochalasis and Double Lip 
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
Bosch-Boonstra-Schaaf optic atrophy syndrome  
brachycephaly, trichomegaly, and developmental delay  
Brachymesomelia Renal Syndrome 
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia  
Brachytelephalangy Characteristic Facies Kallmann 
Branchial Cleft Anomalies  
Calvarial Hyperostosis +   
Camptodactyly Syndrome Guadalajara Type 2 
Cardioacrofacial Dysplasia +   
CEBALID Syndrome  
Cerebellar Atrophy with Seizures and Variable Developmental Delay  
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM  
cerebellar hypoplasia +   
Cerebellar, Ocular, Craniofacial, and Genital Syndrome  
cerebellofaciodental syndrome  
cerebrooculofacioskeletal syndrome 2  
cerebrooculofacioskeletal syndrome 4  
Cerebrooculonasal Syndrome 
Chitayat Moore Del Bigio Syndrome 
CHITAYAT SYNDROME  
Chitty Hall Webb Syndrome 
chromosome 13q14 deletion syndrome  
chromosome 17p13.3 duplication syndrome  
chromosome 17q11.2 deletion syndrome  
Chromosome 18 Pericentric Inversion 
chromosome 2p16.1-p15 deletion syndrome  
chromosome 2q31.2 deletion syndrome 
chromosome 3q29 microdeletion syndrome  
chromosome 8q21.11 deletion syndrome 
chromosome Xp11.23-p11.22 duplication syndrome 
Chromosome Xq28 Duplication Syndrome  
CLEFT LIP AND PALATE-CRANIOFACIAL DYSMORPHISM-CONGENITAL HEART DEFECT-HEARING LOSS SYNDROME  
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Proliferative Retinopathy, and Developmental Delay  
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
cleidocranial dysplasia +   
Cleidocranial Dysplasia 2  
CODAS syndrome  
Cohen syndrome  
combined oxidative phosphorylation deficiency 2  
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
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 Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +   
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA  
Costello syndrome  
Cousin Syndrome  
CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY  
Cranioacrofacial Syndrome 
craniodiaphyseal dysplasia +   
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome  
Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells 
Craniofacial Dyssynostosis 
craniofacial-deafness-hand syndrome  
Craniofacioskeletal Syndrome 
craniofrontonasal syndrome  
craniolenticulosutural dysplasia  
Craniomicromelic Syndrome 
Craniorhiny 
craniosynostosis +   
Curly Hair-Acral Keratoderma-Caries Syndrome 
Der Kaloustian Mcintosh Silver Syndrome 
DeSanto-Shinawi syndrome  
Desbuquois dysplasia +   
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  
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome  
Diaphanospondylodysostosis  
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2  
diphthamide deficiency syndrome +   
diphthamide deficiency syndrome 1  
distal arthrogryposis type 6 
DNA ligase IV deficiency  
Donohue syndrome  
DOORS syndrome  
early-onset epilepsy 2  
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES  
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  
Erosive Arthropathy 
EVEN-PLUS SYNDROME  
Facial Dysmorphism with Multiple Malformations +   
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Faciocardiomelic Syndrome 
Faundes-Banka Syndrome  
fetal encasement syndrome  
FG Syndrome 5 
Floating-Harbor syndrome  
Forebrain Defects  
Forsythe-Wakeling Syndrome 
Fountain Syndrome 
Frank-Ter Haar syndrome  
Fraser-Like Syndrome 
Fronto-Facio-Nasal Dysplasia 
frontonasal dysplasia +   
Frontoocular Syndrome 
Frontootopalatodigital Osteodysplasia 
Game Friedman Paradice Syndrome 
geleophysic dysplasia +   
Genitopatellar Syndrome  
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  
Glycosylphosphatidylinositol Biosynthesis Defect 25  
Goldberg-Shprintzen syndrome  
Gomez Lopez Hernandez Syndrome 
Gorlin Chaudhry Moss Syndrome 
Gracile Bone Dysplasia  
Grant Syndrome 
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Grubben de Cock Borghgraef Syndrome 
Hall Riggs Mental Retardation Syndrome 
Hanhart Syndrome 
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Hecht Scott Syndrome 
Hengel-Maroofian-Schols syndrome  
Hennekam syndrome +   
Heyn-Sproul-Jackson Syndrome  
HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME  
holoprosencephaly +   
Humeroradial Synostosis with Craniofacial Anomalies 
hypermethioninemia due to adenosine kinase deficiency  
Hypertelorism +   
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT  
hypotonia, ataxia, and delayed development syndrome  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
hypotonia-cystinuria syndrome  
Ichthyosis Cheek Eyebrow Syndrome 
Immunodeficiency 78 with Autoimmunity and Developmental Delay  
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
immunodeficiency-centromeric instability-facial anomalies syndrome +   
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis  
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies  
Jequier Kozlowski Skeletal Dysplasia 
Jones Hersh Yusk Syndrome 
Juberg Hayward Syndrome  
Kapur Toriello Syndrome  
Keppen-Lubinsky Syndrome  
KINSSHIP syndrome  
Kleefstra syndrome +   
Klippel-Feil syndrome 4  
KOHLSCHUTTER-TONZ SYNDROME-LIKE  
Kosztolanyi Syndrome 
KURY-ISIDOR SYNDROME  
Lamb-Shaffer Syndrome  
Larsen-like syndrome B3GAT3 type  
Leichtman Wood Rohn Syndrome 
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME  
Li-Campeau Syndrome  
linear skin defects with multiple congenital anomalies 2  
Loeys-Dietz syndrome +   
Luscan-Lumish Syndrome  
Macrocephaly +   
Mandibuloacral Dysplasia Progeroid Syndrome  
mandibuloacral dysplasia type B lipodystrophy  
Mandibulofacial Dysostosis Syndrome, Bauru Type 
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 
Marshall syndrome +   
Marshall-Smith syndrome  
Maxillofacial Abnormalities +   
Menke-Hennekam Syndrome +   
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
microcephaly +   
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME  
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
microcephaly, seizures, and developmental delay  
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
Morillo-Cucci Passarge Syndrome 
Mosaic Variegated Aneuploidy Syndrome 5  
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 
Mullegama-Klein-Martinez syndrome  
Multisystem Autoimmune Disease with Facial Dysmorphism  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Nablus Mask-Like Facial Syndrome 
NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM  
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES  
Neurofaciodigitorenal Syndrome 
Nizon-Isidor Syndrome  
Non-Lissencephalic Cortical Dysplasia 
Noonan syndrome +   
Noonan syndrome with multiple lentigines +   
Obesity, Hyperphagia, and Developmental Delay  
Oculoauriculofrontonasal Syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculodentodigital dysplasia +   
Oculootofacial Dysplasia +   
Ogden syndrome  
Oliver-McFarlane syndrome  
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME  
Orbital Margin, Hypoplasia of 
orofaciodigital syndrome +   
Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay  
osteosclerotic metaphyseal dysplasia  
OTOFACIAL NEURODEVELOPMENTAL SYNDROME  
Otofacioosseous-Gonadal Syndrome 
otopalatodigital syndrome spectrum disorder +   
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures  
Pallister W Syndrome 
Partington Anderson Syndrome 
Pashayan Syndrome 
Periventricular Nodular Heterotopia 7  
Pierpont syndrome  
Plagiocephaly +   
Platybasia +  
Pointer Syndrome 
Posterior Exchondrosis of Pinna 
Potato Nose 
Preauricular Fistulae, Congenital 
Prieto syndrome  
Pseudo-TORCH Syndrome +   
Pseudoaminopterin Syndrome 
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
Rajab Interstitial Lung Disease with Brain Calcifications +   
Reardon Hall Slaney syndrome 
Refsum Disease with Increased Pipecolic Acidemia 
Riddle syndrome  
Ritscher-Schinzel syndrome +   
Roberts syndrome  
Robinow syndrome +   
Roifman-Chitayat Syndrome  
Rommen Mueller Sybert Syndrome 
Rozin Hertz Goodman Syndrome 
Rubinstein-Taybi syndrome +   
Say Meyer Syndrome  
SCARF Syndrome 
Schaaf-Yang syndrome  
Schaefer Stein Oshman Syndrome 
Schilbach-Rott Syndrome 
Schinzel Giedion syndrome  
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities  
Seaver Cassidy Syndrome 
Seckel Like Syndrome Type Buebel 
Sener Syndrome 
Short Stature and Facioauriculothoracic Malformations 
Short Stature, Developmental Delay, and Congenital Heart Defects  
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +   
SHORT STATURE-MICROGNATHIA SYNDROME  
Short Stature-Obesity Syndrome 
Siddiqi syndrome  
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Silver-Russell syndrome +   
Simosa Cranio Facial Syndrome 
Smith-Kingsmore Syndrome  
Snijders Blok-Fisher Syndrome  
Sonoda Syndrome 
Splenogonadal Fusion with Limb Defects and Micrognathia 
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type  
Spondyloocular Syndrome, Autosomal Recessive  
Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 
succinic semialdehyde dehydrogenase deficiency  
Sweeney-Cox syndrome  
syndromic X-linked intellectual disability Abidi type 
syndromic X-linked intellectual disorder Lujan-Fryns-type  
Teebi hypertelorism syndrome +   
Teebi Shaltout Syndrome 
Telecanthus +   
Temtamy syndrome  
Tessadori-van Haaften Neurodevelopmental Syndrome 2  
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
Tetrasomy X 
Tollner Horst Manzke Syndrome 
trichodontoosseous syndrome  
TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME  
Turnpenny-Fry Syndrome  
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 
Urioste Martinez-Frias Syndrome 
Van Bogaert-Hozay Syndrome 
Van Maldergem syndrome +   
Verheij Syndrome  
Vertebral Body Fusion Overgrowth 
VERVERI-BRADY SYNDROME  
Viljoen Kallis Voges Syndrome 
Weaver syndrome  
WEISS-KRUSZKA SYNDROME  
White-Sutton syndrome  
Wiedemann Grosse Dibbern Syndrome 
Winter Shortland Temple Syndrome  
Worth syndrome  
Zaki syndrome  
Zimmerman Laband Syndrome +   

Synonyms
Primary IDs: MESH:C566067 ;   RDO:0014538

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