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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 
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis  
Arthrogryposis Multiplex Congenita Whistling Face 
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Asymmetric Short Stature Syndrome 
Au-Kline 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  
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 
Cerebellar Atrophy with Seizures and Variable Developmental Delay  
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
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 
Chondrodysplasia, Megarbane-Dagher-Melki Type  
chromosome 13q14 deletion syndrome  
chromosome 17p13.3 duplication syndrome  
chromosome 17q11.2 deletion syndrome, 1.4Mb  
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 Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
cleidocranial dysplasia +   
cocoon syndrome  
CODAS syndrome  
Cohen syndrome  
combined oxidative phosphorylation deficiency 2  
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder  
CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES  
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  
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 +   
Crouzon syndrome +   
Curly Hair-Acral Keratoderma-Caries Syndrome 
Der Kaloustian Mcintosh Silver Syndrome 
Desanto-Shinawi Syndrome  
Desbuquois dysplasia +   
DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
Diaphanospondylodysostosis  
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2  
distal arthrogryposis type 6 
Distal Arthrogryposis, with Hypopituitarism, Mental Retardation, and Facial Anomalies 
DNA ligase IV deficiency  
Donohue syndrome  
DOORS syndrome  
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  
Erosive Arthropathy 
EVEN-PLUS SYNDROME  
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis  
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 
FG Syndrome 5 
Floating-Harbor syndrome  
Forebrain Defects  
Forsythe-Wakeling Syndrome 
Fountain Syndrome 
Fragile Site 16p12 
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, 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  
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 
Hennekam syndrome +   
Heyn-Sproul-Jackson 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, 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 
Kat6a Syndrome  
Keppen-Lubinsky Syndrome  
Kleefstra syndrome +   
Klippel-Feil syndrome 4  
Kosztolanyi Syndrome 
Lamb-Shaffer Syndrome  
Larsen-like syndrome B3GAT3 type  
Leichtman Wood Rohn Syndrome 
LEOPARD syndrome +   
Linear Skin Defects with Multiple Congenital Anomalies 2  
Loeys-Dietz syndrome +   
Loucks-Innes Syndrome  
Lujan Fryns Syndrome  
Luscan-Lumish syndrome  
Macrocephaly +   
Mandibuloacral Dysplasia with 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, 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 
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism  
Multisystem Autoimmune Disease, with Facial Dysmorphism  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Nablus Mask-Like Facial Syndrome 
Neurofaciodigitorenal Syndrome 
Non-Lissencephalic Cortical Dysplasia 
Noonan syndrome +   
Obesity, Hyperphagia, and Developmental Delay  
Oculoauriculofrontonasal syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculodentodigital dysplasia +   
Oculootofacial Dysplasia +   
Ogden syndrome  
Oliver-McFarlane syndrome  
Orbital Margin, Hypoplasia of 
orofaciodigital syndrome +   
Osteosclerotic Metaphyseal Dysplasia  
Oto-Palato-Digital Syndrome Type 1  
Oto-Palato-Digital Syndrome, Type 2  
Otofacioosseous-Gonadal Syndrome 
Otopalatodigital Spectrum Disorder  
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES 
Pallister W Syndrome 
Partington Anderson Syndrome 
Pashayan Syndrome 
Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay  
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 Syndrome  
Reardon Hall Slaney syndrome 
Refsum Disease with Increased Pipecolic Acidemia 
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay  
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 
SC phocomelia syndrome  
SCARF Syndrome 
Schaefer Stein Oshman Syndrome 
Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias 
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-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 Limb Defects Micrognatia 
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya 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 
Teebi Shaltout Syndrome 
Teebi Syndrome 
Telecanthus +   
Temtamy syndrome  
Ter Haar Syndrome  
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
Tetrasomy X 
Tollner Horst Manzke Syndrome 
trichodontoosseous 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's syndrome  
X-Linked Neurodevelopmental Disorder with Craniofacial Abnormalities  
Zimmerman Laband Syndrome +   

Synonyms
Primary IDs: MESH:C566067 ;   RDO:0014538

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