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Term:
Axenfeld-Rieger syndrome type 1 (DOID:0110120)
Annotations: Rat: (5) Mouse: (5) Human: (5) Chinchilla: (4) Bonobo: (4) Dog: (3) Squirrel: (3)
Parent Terms Term With Siblings Child Terms
anodontia +     
anus disease +     
Corneal Opacity +     
Facies +     
umbilical hernia +     
22q11 Deletion Syndrome +   
3MC syndrome +   
ADULT syndrome  
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Al Gazali Aziz Salem Syndrome 
Al Gazali Hirschsprung Syndrome 
Alazami Syndrome  
ALAZAMI-YUAN SYNDROME  
Aloi Tomasini Isaia Syndrome 
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis  
Anal Fissure 
anal spasm 
Anodontia of Permanent Dentition 
anogenital venereal wart +   
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
anorectal stricture 
anus benign neoplasm +   
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
arcus senilis  
Arthrogryposis Multiplex Congenita Whistling Face 
Arthrogryposis-like Hand Anomaly and Sensorineural Deafness 
Asymmetric Short Stature Syndrome 
Au-Kline Syndrome  
autosomal recessive cutis laxa type III +   
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
Axenfeld-Rieger syndrome type 1  
An Axenfeld-Rieger syndrome that has material basis in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25. (DO)
Axenfeld-Rieger syndrome type 2 
Axenfeld-Rieger syndrome type 3  
Ayme-Gripp Syndrome  
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Baker Vinters Syndrome 
Baraitser-Winter syndrome +   
Beaulieu-Boycott-Innes Syndrome  
Beemer Ertbruggen Syndrome 
Birk-Barel syndrome  
Blepharochalasis and Double Lip 
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
blepharophimosis-intellectual disability syndrome, SBBYS type  
Boomerang dysplasia  
Bowen Syndrome 
Brachycephaly, Trichomegaly, and Developmental Delay  
Brachymesomelia Renal Syndrome 
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 
Brachytelephalangy Characteristic Facies Kallmann 
Branchial Cleft Anomalies 
Brooks-Wisniewski-Brown syndrome 
Brunoni Syndrome 
Burn-Mckeown Syndrome  
Calvarial Hyperostosis 
Camptodactyly Syndrome Guadalajara Type 2 
cardiofaciocutaneous syndrome +   
Cerebellofaciodental Syndrome  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
Cerebrooculonasal Syndrome 
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 
CHITAYAT SYNDROME  
Chondrodysplasia, Megarbane-Dagher-Melki Type  
CHOPS SYNDROME  
chromosome 13q14 deletion syndrome  
chromosome 17q11.2 deletion syndrome, 1.4Mb  
Chromosome 18 Pericentric Inversion 
chromosome 2p16.1-p15 deletion syndrome 
chromosome 2q31.2 deletion syndrome 
chromosome 5p13 duplication syndrome 
chromosome 8q21.11 deletion syndrome 
Chromosome Xq28 Duplication Syndrome 
Clark-Baraitser Syndrome 
Cleft Palate, Deafness, and Oligodontia 
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
cleidocranial dysplasia +   
cocoon syndrome  
CODAS Syndrome  
Coffin-Siris syndrome +   
cold-induced sweating syndrome +   
Combined Oxidative Phosphorylation Deficiency 2  
Combined Pituitary Hormone Deficiency, 1  
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER  
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
Congenital Micromelic Dysplasia with Dislocation of Radius +   
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +   
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA  
Cortical Blindness, Retardation, and Postaxial Polydactyly 
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 Deafness Hand Syndrome  
Craniofacial Dyssynostosis 
Craniofacioskeletal Syndrome 
craniofrontonasal syndrome  
craniolenticulosutural dysplasia  
Craniomicromelic Syndrome 
Craniorhiny 
craniosynostosis +   
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 
Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age 
Cree Mental Retardation Syndrome 
Crouzon syndrome +   
Crumpled Helices and Small Mouth 
Cubitus Valgus with Mental Retardation and Unusual Facies 
Curly Hair-Acral Keratoderma-Caries Syndrome 
Cyprus Facial Neuromusculoskeletal Syndrome 
Davis Lafer Syndrome 
De Hauwere syndrome 
Deafness Oligodontia Syndrome 
Deafness-Craniofacial Syndrome 
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 
Der Kaloustian Mcintosh Silver Syndrome 
Dermatoosteolysis Kirghizian Type 
Desanto-Shinawi Syndrome  
Desbuquois dysplasia +   
Diaphanospondylodysostosis  
Digitorenocerebral Syndrome  
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis  
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
distal 10q deletion syndrome 
Distal Arthrogryposis, with Hypopituitarism, Mental Retardation, and Facial Anomalies 
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
DNA ligase IV deficiency  
Donohue syndrome +   
Dubowitz syndrome 
Dysmyelinating Leukodystrophy with Oligodontia 
Ectodermal Dysplasia Alopecia Preaxial Polydactyly 
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
Ectodermal Dysplasia, Trichoodontoonychial Type 
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  
Ectrodactyly Cardiopathy Dysmorphism 
Edinburgh Malformation Syndrome 
Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 
Erosive Arthropathy 
EVEN-PLUS SYNDROME  
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis  
FACES 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  
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 
Faciocardiomelic Syndrome 
Feingold Trainer Syndrome 
Fg Syndrome 5 
fibrochondrogenesis +   
fibroepithelial polyp of the anus 
Filippi Syndrome  
Floating-Harbor Syndrome  
Forebrain Defects  
Fountain Syndrome 
Fragile Site 16p12 
Fraser-Like Syndrome 
Fronto-Facio-Nasal Dysplasia 
Frontonasal Dysplasia +   
Frontoocular Syndrome 
Frontootopalatodigital Osteodysplasia 
Fryns Macrocephaly 
Fryns Syndrome 
Game Friedman Paradice Syndrome 
Geleophysic Dysplasia +   
Genitopatellar Syndrome  
Giacheti Syndrome 
Gingival Fibromatosis with Distinctive Facies 
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Goldberg-Shprintzen syndrome  
Gomez Lopez Hernandez Syndrome 
gonorrhea +  
Gorlin Chaudhry Moss Syndrome 
Gracile Bone Dysplasia  
Granddad Syndrome 
Grant Syndrome 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Mental Deficiency Syndrome of Myhre  
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Hadziselimovic Syndrome 
Hall Riggs Mental Retardation Syndrome 
Hanhart Syndrome 
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Hecht Scott Syndrome 
hemorrhoid +   
Hennekam syndrome +   
hereditary spastic paraplegia 23  
holoprosencephaly +   
Holoprosencephaly 10 
Humeroradial Synostosis with Craniofacial Anomalies 
Hypertelorism +   
Hypodontia Oligodontia with Orofacial Cleft 
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  
Hypotonia, Seizures, and Precocious Puberty 
hypotonia-cystinuria syndrome  
Ichthyosis Cheek Eyebrow Syndrome 
immunodeficiency-centromeric instability-facial anomalies syndrome +   
imperforate anus +   
Infantile Hypotonia with Psychomotor Retardation and Characteristic 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 SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Iris Dysplasia Hypertelorism Deafness 
Irons Bhan Syndrome 
Jequier Kozlowski Skeletal Dysplasia 
Jones Hersh Yusk Syndrome 
Kahrizi syndrome  
Kapur Toriello Syndrome 
Kaufman Oculocerebrofacial Syndrome  
KBG syndrome  
Keppen-Lubinsky Syndrome  
Kleefstra syndrome +   
KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM  
Kosztolanyi Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski-Krajewska Syndrome 
Larsen Syndrome, Recessive Type  
Larsen-like syndrome 
Leichtman Wood Rohn Syndrome 
LEOPARD syndrome +   
Leri Pleonosteosis 
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Levator Syndrome 
Lichtenstein Syndrome 
Linear Skin Defects with Multiple Congenital Anomalies 2  
Loeys-Dietz syndrome +   
Loucks-Innes Syndrome  
Lujan Fryns Syndrome  
Lymphedema, Cardiac Septal Defects, And Characteristic Facies 
Macrocephaly +   
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION  
macrocephaly-autism syndrome  
Malocclusion and Short Stature 
Mandibuloacral Dysplasia with Type B Lipodystrophy  
Mandibulofacial Dysostosis Syndrome, Bauru Type 
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 
Marfanoid Mental Retardation Syndrome, Autosomal 
Marshall Syndrome +   
Marshall-Smith syndrome  
Maxillofacial Abnormalities +   
McDonough Syndrome 
McPherson Clemens Syndrome 
Mehta Lewis Patton Syndrome 
Menke-Hennekam Syndrome +   
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation Mietens Weber Type 
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation, Buenos Aires Type 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations  
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly  
Metaphyseal Dysplasia with Maxillary Hypoplasia with or without Brachydactyly  
microcephaly +   
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
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, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects 
Microdontia Hypodontia Short Stature 
Microphthalmia and Mental Deficiency 
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Morillo-Cucci Passarge Syndrome 
Mowat-Wilson syndrome  
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism  
Multiple Pterygium Syndrome, X-Linked 
Multisystem Autoimmune Disease, with Facial Dysmorphism  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Nablus Mask-Like Facial Syndrome 
Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities  
Neurofaciodigitorenal Syndrome 
NF1 Microduplication Syndrome 
Nicolaides Baraitser Syndrome  
Night Blindness Skeletal Anomalies Unusual Facies 
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
Noonan syndrome +   
Oculoauriculofrontonasal syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculodentodigital dysplasia +   
Oculodentodigital Dysplasia, Autosomal Recessive  
Oculootofacial Dysplasia +   
Oligodontia-Colorectal Cancer Syndrome  
Omodysplasia 2  
Omphalocele Exstrophy Imperforate Anus 
Omphalocele, Cleft Palate Syndrome Lethal 
Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects 
Opitz Trigonocephaly Syndrome  
Orbital Margin, Hypoplasia of 
Oroacral Syndrome, Verloes-Koulischer Type 
orofaciodigital syndrome +   
Osteolysis Syndrome Recessive 
Oto-Palato-Digital Syndrome Type 1  
Oto-Palato-Digital Syndrome, Type 2  
Otofacioosseous-Gonadal Syndrome 
Otoonychoperoneal Syndrome 
Otopalatodigital Spectrum Disorder  
Palant Cleft Palate Syndrome 
Pallister W Syndrome 
Partington Anderson Syndrome 
Pashayan Syndrome 
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis  
Peters anomaly +   
Pfeiffer Palm Teller Syndrome 
Pierpont syndrome  
Pierre Robin Sequence with Facial and Digital Anomalies 
Pinheiro Freire-Maia Miranda Syndrome 
Plagiocephaly +   
Platybasia +  
Pointer Syndrome 
Posterior Exchondrosis of Pinna 
Potato Nose  
Preauricular Fistulae, Congenital 
Prieto syndrome 
Progeroid Facial Appearance with Hand Anomalies 
Pruritus Ani 
Pseudoaminopterin Syndrome 
Pseudodiastrophic Dysplasia 
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
Radioulnar Synostosis Retinal Pigment Abnormalities 
Ramos Arroyo Clark Syndrome 
Reardon Hall Slaney syndrome 
Renal and Mullerian Duct Hypoplasia +   
Renal Dysplasia - Limb Defects Syndrome 
Riddle syndrome  
Ritscher-Schinzel syndrome +   
Roberts syndrome  
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Robinow syndrome +   
Roifman-Chitayat Syndrome 
Rommen Mueller Sybert Syndrome 
Rosenthal-Kloepfer Syndrome 
Rozin Hertz Goodman Syndrome 
Rubinstein-Taybi syndrome +   
Rudiger Syndrome 
Ruvalcaba 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  
Schopf-Schulz-Passarge Syndrome  
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 
Seaver Cassidy Syndrome 
Seckel Like Syndrome Type Buebel 
Seckel syndrome 1  
Seckel Syndrome 3 
Sener Syndrome 
Severe Growth Restriction with Distinctive Facies  
Short Stature and Facioauriculothoracic Malformations 
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES  
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES  
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY  
Short Stature-Obesity Syndrome 
Shprintzen Omphalocele Syndrome 
Silver-Russell syndrome +   
Simosa Cranio Facial Syndrome 
Single Upper Central Incisor  
Smith-Kingsmore Syndrome  
Snijders Blok-Campeau Syndrome  
Sonoda Syndrome 
Spinocerebellar Ataxia with Dysmorphism 
Splenogonadal Fusion Limb Defects Micrognatia 
Split-Hand and Split-Foot With Hypodontia 
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies 
Spondyloepiphyseal Dysplasia Tarda, Toledo Type 
Spondyloocular Syndrome, Autosomal Recessive  
SWEENEY-COX SYNDROME  
syndromic X-linked intellectual disability Abidi type 
Taurodontia Absent Teeth Sparse Hair 
Teebi Shaltout Syndrome 
Teebi Syndrome 
Telecanthus +   
Temtamy Syndrome  
Ter Haar Syndrome  
Tetrasomy X 
Thai Symphalangism Syndrome 
Thakker Donnai Syndrome 
Thomas Jewett Raines Syndrome 
Thrombocytopenia Robin Sequence 
Thumb Deformity, Alopecia, Pigmentation Anomaly 
Tollner Horst Manzke Syndrome 
tooth and nail syndrome  
Tricho-Dento-Osseous Syndrome  
Trichohepatoenteric Syndrome +   
trichorhinophalangeal syndrome type III  
Turnpenny-Fry Syndrome  
Urioste Martinez-Frias Syndrome 
urofacial syndrome +   
Uruguay Faciocardiomusculoskeletal Syndrome  
Van Bogaert-Hozay Syndrome 
Van Maldergem syndrome +   
Verheij Syndrome  
Vertebral Body Fusion Overgrowth 
VERVERI-BRADY SYNDROME  
Viljoen Kallis Voges Syndrome 
Weaver syndrome  
White Forelock with Malformations 
White-Sutton syndrome  
Wiedemann Grosse Dibbern Syndrome 
Winchester Syndrome  
Winter Harding Hyde Syndrome 
Winter Shortland Temple Syndrome  
Worth's syndrome  
X-Linked Hypodontia 
Zadik Barak Levin Syndrome 
Zechi-Ceide Syndrome 
Zimmerman Laband Syndrome  

Synonyms
Exact Synonyms: RGS ;   RIEG ;   RIEG1 ;   Rieger syndrome type 1
Primary IDs: OMIM:180500
Alternate IDs: RDO:0008146
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/8944018

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