Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Disease Attributes +     
Acute Disease 
Asymptomatic Diseases +  
Catastrophic Illness 
Chronic Disease +   
Convalescence 
Critical Illness  
Disease Progression +   
Disease Resistance 
Disease Susceptibility +   
Diseases in Twins 
Emergencies 
Facies +   
The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)
Iatrogenic Disease +   
Late Onset Disorders 
Neglected Diseases 
Rare Diseases 
Recurrence +   
Undiagnosed Diseases 
 Al Gazali Aziz Salem Syndrome 
 Al Gazali Hirschsprung Syndrome 
 ALFADHEL SYNDROME  
 Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
 Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
 Au-Kline Syndrome  
 Axenfeld-Rieger syndrome type 1  
 Ayme-Gripp syndrome  
 Baraitser-Winter syndrome +   
 Beaulieu-Boycott-Innes Syndrome  
 Beemer Ertbruggen Syndrome 
 Boomerang dysplasia  
 Bowen Syndrome 
 brachycephaly, trichomegaly, and developmental delay  
 Brachytelephalangy Characteristic Facies Kallmann 
 Braddock Carey Syndrome +   
 Brunoni Syndrome 
 Burn-McKeown syndrome  
 C syndrome  
 Cardioacrofacial Dysplasia +   
 cardiofaciocutaneous syndrome +   
 Cardiofacioneurodevelopmental Syndrome  
 cerebellofaciodental syndrome  
 Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 
 CHOPS Syndrome  
 chromosome 17q11.2 deletion syndrome  
 chromosome 5p13 duplication syndrome 
 Chromosome Xq28 Duplication Syndrome  
 Clark-Baraitser syndrome  
 Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
 Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
 Coffin-Siris syndrome +   
 cold-induced sweating syndrome +   
 combined or isolated pituitary hormone deficiency 1  
 Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 
 congenital disorder of deglycosylation 2  
 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder  
 Congenital Micromelic Dysplasia with Dislocation of Radius +   
 congenital myopathy 17  
 Cortical Blindness, Retardation, and Postaxial Polydactyly 
 Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 
 Cree Mental Retardation Syndrome 
 Crumpled Helices and Small Mouth 
 Cubitus Valgus with Impaired Intellectual Development and Unusual Facies 
 Cyprus Facial Neuromusculoskeletal Syndrome 
 Davis Lafer Syndrome 
 De Hauwere syndrome  
 Deafness-Craniofacial Syndrome 
 Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 
 Der Kaloustian Mcintosh Silver Syndrome 
 DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES  
 DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES  
 developmental delay, dysmorphic facies, and brain anomalies  
 DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY  
 Diets-Jongmans Syndrome  
 diphthamide deficiency syndrome 2  
 Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
 distal 10q deletion syndrome  
 Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 
 Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
 Dubowitz syndrome  
 DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE  
 Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
 Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 
 Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
 Ectrodactyly Cardiopathy Dysmorphism 
 Edinburgh Malformation Syndrome 
 FACES Syndrome 
 Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 
 Faciocardiomelic Syndrome 
 Faundes-Banka Syndrome  
 Feingold Trainer Syndrome 
 FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES  
 fibrochondrogenesis +   
 Filippi syndrome  
 Fryns Macrocephaly 
 Fryns Syndrome  
 geleophysic dysplasia +   
 Giacheti Syndrome 
 Gingival Fibromatosis with Distinctive Facies 
 GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
 Granddad Syndrome 
 Growth Mental Deficiency Syndrome of Myhre  
 GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES  
 Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
 Hadziselimovic Syndrome 
 Hao-Fountain Syndrome  
 Haspeslagh Fryns Muelenaere Syndrome 
 hereditary spastic paraplegia 23  
 Holoprosencephaly 10  
 Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies  
 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies +   
 Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 
 Intellectual Developmental Disorder with Autism and Dysmorphic Facies  
 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 HYPERTELORISM AND DISTINCTIVE FACIES  
 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies  
 INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES  
 Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies  
 intellectual developmental disorder with ocular anomalies and distinctive facial features  
 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS  
 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, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES  
 Iris Dysplasia Hypertelorism Deafness 
 Kahrizi syndrome  
 Kaufman oculocerebrofacial syndrome  
 KBG syndrome  
 Keppen-Lubinsky Syndrome  
 Kozlowski Rafinski Klicharska Syndrome 
 Kozlowski-Krajewska Syndrome 
 Larsen-Like Syndromes +   
 Leri Pleonosteosis 
 Li-Campeau Syndrome  
 Lichtenstein Syndrome 
 Lymphedema, Cardiac Septal Defects, and Characteristic Facies 
 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation  
 macrocephaly-autism syndrome  
 Malocclusion and Short Stature 
 MARBACH-RUSTAD PROGEROID SYNDROME  
 Marfanoid Mental Retardation Syndrome, Autosomal  
 Martsolf Syndrome 2  
 McDonough Syndrome 
 McPherson Clemens Syndrome 
 Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
 Mental Retardation, Buenos Aires Type 
 Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
 metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome  
 Microcephaly Deafness Syndrome 
 Microcephaly with Cervical Spine Fusion Anomalies 
 Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 
 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
 Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
 Mowat-Wilson syndrome  
 Multiple Pterygium Syndrome, X-Linked 
 Myoectodermal Gonadal Dysgenesis Syndrome  
 Nabais Sa-de Vries Syndrome, Type 1  
 Nabais Sa-de Vries Syndrome, Type 2  
 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies  
 NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES  
 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA  
 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES  
 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA  
 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES  
 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum  
 Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures  
 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, ABSENT SPEECH AND AMBULATION, AND BRAIN ABNORMALITIES  
 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA  
 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES  
 Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly  
 NEURODEVELOPMENTAL DISORDER WITH GAIT DISTURBANCE, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES, X-LINKED  
 Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities  
 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES  
 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE  
 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES  
 Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities  
 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FEEDING DIFFICULTIES, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES  
 NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES  
 Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment  
 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES  
 neurodevelopmental disorder with speech impairment and dysmorphic facies  
 Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies  
 NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES  
 NF1 Microduplication Syndrome 
 Nicolaides-Baraitser syndrome  
 Night Blindness Skeletal Anomalies Unusual Facies 
 Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
 Oculoskeletodental Syndrome  
 Ohdo syndrome, SBBYS variant  
 omodysplasia 2  
 Oroacral Syndrome, Verloes-Koulischer Type 
 Osteolysis Syndrome, Recessive 
 Otoonychoperoneal Syndrome 
 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures  
 Palant Cleft Palate Syndrome 
 Partington Anderson Syndrome 
 Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis  
 Pfeiffer Palm Teller Syndrome 
 Pierpont syndrome  
 Pierre Robin Sequence with Facial and Digital Anomalies 
 Progeroid Facial Appearance with Hand Anomalies 
 Radioulnar Synostosis Retinal Pigment Abnormalities 
 Ramos Arroyo Clark Syndrome 
 Renal and Mullerian Duct Hypoplasia +   
 Renal Dysplasia - Limb Defects Syndrome 
 Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
 Roifman-Chitayat Syndrome  
 Rudiger Syndrome 
 Ruvalcaba Syndrome 
 Schrander-Stumpel Theunissen Hulsmans Syndrome 
 Seckel syndrome 1  
 Seckel Syndrome 3 
 Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects 
 SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
 Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
 short stature, hearing loss, retinitis pigmentosa, and distinctive facies  
 SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY  
 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
 Shprintzen Omphalocele Syndrome 
 Silver-Russell Syndrome 3  
 Snijders Blok-Campeau Syndrome  
 Spinocerebellar Ataxia with Dysmorphism 
 spondyloepiphyseal dysplasia tarda with characteristic facies 
 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type  
 Stolerman neurodevelopmental syndrome  
 syndromic X-linked intellectual disability Turner type  
 Thakker Donnai Syndrome 
 Thomas Jewett Raines Syndrome 
 Thrombocytopenia 11  
 Thrombocytopenia 8  
 trichohepatoenteric syndrome +   
 trichorhinophalangeal syndrome type III  
 Turnpenny-Fry Syndrome  
 urofacial syndrome +   
 Uruguay faciocardiomusculoskeletal syndrome  
 Verheij Syndrome  
 VERVERI-BRADY SYNDROME  
 White Forelock with Malformations 
 Wiedemann-Steiner syndrome  
 Winter Harding Hyde Syndrome 
 Zechi-Ceide Syndrome 

Synonyms
Exact Synonyms: facial dysmorphism
Primary IDs: MESH:D019066
Definition Sources: MESH:D019066

paths to the root