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Ontology Browser

Term:
Oculodentodigital Dysplasia, Autosomal Recessive (DOID:9006369)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (0) Pig: (1)
Parent Terms Term With Siblings Child Terms
22q11 Deletion Syndrome +   
3MC syndrome +   
3MC syndrome 1  
ablepharon macrostomia syndrome  
acrocephalosyndactylia +   
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Alazami Syndrome  
ALAZAMI-YUAN SYNDROME  
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis  
aniridia +   
Ankyloblepharon Filiforme Adnatum 
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
Anophthalmia +   
anterior segment mesenchymal dysgenesis +   
Aphalangia Syndactyly Microcephaly 
Arthrogryposis Multiplex Congenita Whistling Face 
Arthrogryposis-like Hand Anomaly and Sensorineural Deafness 
Asymmetric Short Stature Syndrome 
Au-Kline Syndrome  
Aurocephalosyndactyly 
Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects  
Axenfeld-Rieger syndrome +   
Axenfeld-Rieger syndrome type 1  
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Baker Vinters Syndrome 
Baraitser-Winter syndrome +   
Basel-Vanagaite-Smirin-Yosef syndrome  
Birk-Barel syndrome  
Blepharochalasis and Double Lip 
blepharophimosis +   
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
Blepharophimosis with Ptosis, Syndactyly, and Short Stature 
Blue Diaper Syndrome 
Bonneau Syndrome 
brachydactyly-syndactyly syndrome  
Brachymesomelia Renal Syndrome 
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 
Brachytelephalangy Characteristic Facies Kallmann 
Branchial Cleft Anomalies 
brittle cornea syndrome +   
Calvarial Hyperostosis 
Camptodactyly Syndrome Guadalajara Type 2 
Cenani-Lenz syndactyly syndrome  
CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
Cerebrooculonasal Syndrome 
Chemke Oliver Mallek Syndrome 
CHITAYAT 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 6pter-p24 deletion syndrome 
chromosome 8q21.11 deletion syndrome 
Chromosome Xq28 Duplication Syndrome 
cleft lip-palate-ectodermal dysplasia 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  
Cole-Carpenter syndrome +   
coloboma +   
Colobomatous Macrophthalmia with Microcornea 
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 Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +   
Congenital Nephrotic Syndrome with or without Ocular Abnormalities +   
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 Deafness Hand Syndrome  
Craniofacial Dyssynostosis 
Craniofacioskeletal Syndrome 
craniofrontonasal syndrome  
craniolenticulosutural dysplasia  
Craniomicromelic Syndrome 
Craniorhiny 
craniosynostosis +   
Craniosynostosis with Ocular Abnormalities and Hallucal Defects 
Crossed Polysyndactyly 
Crouzon syndrome +   
Cryptophthalmos, Unilateral or Bilateral, Isolated  
Curly Hair-Acral Keratoderma-Caries Syndrome 
De Hauwere syndrome 
Desanto-Shinawi Syndrome  
Desbuquois dysplasia +   
Diaphanospondylodysostosis  
Diffuse Renal Mesangial Sclerosis, with Ocular Abnormalities 
Digitorenocerebral Syndrome  
Distal Arthrogryposis, with Hypopituitarism, Mental Retardation, and Facial Anomalies 
DNA ligase IV deficiency  
Donohue syndrome +   
Duplication of Eyebrows with Stretchable Skin and Syndactyly 
Dwarfism Stiff Joint Ocular Abnormalities 
Ectodermal Dysplasia Mental Retardation Syndactyly 
Ectodermal Dysplasia-Syndactyly Syndrome +   
Ectopia Lentis +   
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  
Egg-Shaped Pupil 
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  
Faciocardiomelic Syndrome 
Fg Syndrome 5 
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 
Filippi Syndrome  
Floating-Harbor Syndrome  
Forebrain Defects  
Fountain Syndrome 
Foveal Hypoplasia and Anterior Segment Dysgenesis  
Fragile Site 16p12 
Fraser syndrome +   
Fraser-Like Syndrome 
Frints De Smet Fabry Fryns Syndrome 
Fronto-Facio-Nasal Dysplasia 
Frontonasal Dysplasia +   
Frontoocular Syndrome 
Frontootopalatodigital Osteodysplasia 
Game Friedman Paradice Syndrome 
Geleophysic Dysplasia +   
Genitopatellar Syndrome  
Goldberg-Shprintzen syndrome  
Gollop Coates Syndrome 
Gomez Lopez Hernandez Syndrome 
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
Gorlin Chaudhry Moss Syndrome 
Gracile Bone Dysplasia  
Grange Syndrome  
Grant Syndrome 
Green Sandford Davison Syndrome 
Hall Riggs Mental Retardation Syndrome 
Hanhart Syndrome 
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Hecht Scott Syndrome 
Hennekam syndrome +   
holoprosencephaly +   
Humeroradial Synostosis with Craniofacial Anomalies 
hydrophthalmos +   
Hypertelorism +   
hypotonia-cystinuria syndrome  
Ichthyosis Cheek Eyebrow Syndrome 
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  
iridogoniodysgenesis syndrome +   
Jequier Kozlowski Skeletal Dysplasia 
Jones Hersh Yusk Syndrome 
Joubert syndrome 1  
Joubert Syndrome 2  
Joubert syndrome 9  
Kapur Toriello Syndrome 
Keppen-Lubinsky Syndrome  
Kleefstra syndrome +   
Kleiner Holmes Syndrome 
KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM  
Kosztolanyi Syndrome 
Kozlowski-Krajewska Syndrome 
LADD syndrome  
Landy Donnai 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  
Macrocephaly +   
Mandibuloacral Dysplasia with Type B Lipodystrophy  
Mandibulofacial Dysostosis Syndrome, Bauru Type 
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 
Marshall Syndrome +   
Marshall-Smith syndrome  
Martinez Monasterio Pinheiro Syndrome 
Maxillofacial Abnormalities +   
Maxillofacial Dysostosis 
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, Facial Abnormalities, Micromelia, and Mental Retardation 
MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME  
Microcornea, Glaucoma, and Absent Frontal Sinuses 
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus  
microphthalmia +   
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
MOMES Syndrome 
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 
Naguib-Richieri-Costa Syndrome 
Nephrotic Syndrome with Ocular Anomalies 
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART  
Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities  
Neurofaciodigitorenal Syndrome 
Noonan syndrome +   
oculoauricular syndrome  
Oculoauriculofrontonasal syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
Oculocerebrocutaneous Syndrome 
oculodentodigital dysplasia +   
Oculodentodigital Dysplasia, Autosomal Recessive  
Oculodentoosseous Dysplasia Recessive 
Oculomaxillofacial Dysostosis  
Oculootofacial Dysplasia +   
Oculopalatocerebral Syndrome 
Oculorenocerebellar Syndrome 
Orbital Margin, Hypoplasia of 
orofacial cleft 7 +   
orofaciodigital syndrome +   
Orstavik Lindemann Solberg Syndrome  
Oto-Palato-Digital Syndrome Type 1  
Oto-Palato-Digital Syndrome, Type 2  
Otofacioosseous-Gonadal Syndrome 
Otopalatodigital Spectrum Disorder  
Pallister W Syndrome 
Pashayan Syndrome 
Pavone Fiumara Rizzo Syndrome 
Pena Shokeir Syndrome Type 2 
Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay  
persistent hyperplastic primary vitreous +   
Pfeiffer Rockelein Syndrome 
PHACE Association 
Piepkorn Karp Hickok syndrome 
Pierson syndrome  
Plagiocephaly +   
Platybasia +  
Pointer Syndrome 
Poland syndrome 
popliteal pterygium syndrome +   
Postaxial Polydactyly, Type A4 
Posterior Exchondrosis of Pinna 
Potato Nose  
Preauricular Fistulae, Congenital 
Prepapillary Vascular Loops 
Prieto syndrome 
Pseudoaminopterin Syndrome 
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
Pupillary Membrane, Persistence of 
Radio-Ulnar Synostosis Type 1 
Radio-Ulnar Synostosis Type 2 
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
Reardon Hall Slaney syndrome 
Retinal Dysplasia +   
Riddle syndrome  
Ritscher-Schinzel syndrome +   
Roberts syndrome  
Robinow syndrome +   
Rommen Mueller Sybert Syndrome 
Rosselli-Gulienetti 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  
Schmid-Fraccaro Syndrome 
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 
sclerosteosis +   
Seaver Cassidy Syndrome 
Seckel Like Syndrome Type Buebel 
Sener Syndrome 
Short Stature and Facioauriculothoracic Malformations 
SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES  
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY  
Short Stature-Obesity Syndrome 
Silver-Russell syndrome +   
Simosa Cranio Facial Syndrome 
Smith-Kingsmore Syndrome  
Sonoda Syndrome 
Splenogonadal Fusion Limb Defects Micrognatia 
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
Spondyloocular Syndrome, Autosomal Recessive  
Stromme syndrome  
Sweeney-Cox syndrome  
Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction  
Syndactyly, Type 3  
Syndactyly, Type I  
Syndactyly, Type IV  
Syndactyly, Type V  
Syndactyly-Polydactyly-Earlobe Syndrome 
syndromic X-linked intellectual disability Abidi type 
synpolydactyly +   
tarsal-carpal coalition syndrome  
Teebi Shaltout Syndrome 
Teebi Syndrome 
Telecanthus +   
Temtamy Syndrome  
Ter Haar Syndrome  
Tetrasomy X 
Timothy syndrome  
Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations  
Tollner Horst Manzke Syndrome 
torsion dystonia with onset in infancy 
Tricho-Dento-Osseous Syndrome  
Trueb Burg Bottani Syndrome 
Urioste Martinez-Frias Syndrome 
Van Bogaert-Hozay Syndrome 
Van Maldergem syndrome +   
Verheij Syndrome  
Vertebral Body Fusion Overgrowth 
Viljoen Kallis Voges Syndrome 
Weaver syndrome  
White-Sutton syndrome  
Wiedemann Grosse Dibbern Syndrome 
Winter Shortland Temple Syndrome  
Worth's syndrome  
Zerres Rietschel Majewski Syndrome 
Zimmerman Laband Syndrome  
Zygodactyly 1 

Synonyms
Exact Synonyms: ODDD, AUTOSOMAL RECESSIVE ;   ODOD, AUTOSOMAL RECESSIVE ;   Oculodentoosseous Dysplasia, Autosomal Recessive
Primary IDs: MESH:C567605 ;   RDO:0015643
Alternate IDs: OMIM:257850

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