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Term:
Spondyloocular Syndrome, Autosomal Recessive (DOID:9005347)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
cataract +     
retinal detachment +     
22q11 Deletion Syndrome +   
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia  
3MC syndrome +   
acheiropody  
achondrogenesis +   
achondroplasia +   
achromatopsia 4  
Achromatopsia 5  
acrocapitofemoral dysplasia  
acrodysostosis +   
Acrodysplasia Scoliosis 
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia 
acromesomelic dysplasia +   
acromicric dysplasia +   
Acrootoocular Syndrome 
Acropectorovertebral Dysplasia 
Adams Nance Syndrome 
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Aicardi syndrome 
Akaba Hayasaka Syndrome 
Alacrima +   
Alazami Syndrome  
ALAZAMI-YUAN SYNDROME  
Albinism +   
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alpha-B Crystallinopathy with Cataract 
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis  
Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia  
aniridia +   
Aniridia 1  
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract 
Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation 
Arthrogryposis Multiplex Congenita Whistling Face 
Arthrogryposis-like Hand Anomaly and Sensorineural Deafness 
asphyxiating thoracic dystrophy +   
Asymmetric Short Stature Syndrome 
ataxia with oculomotor apraxia type 3  
Ataxia-Microcephaly-Cataract Syndrome 
Ataxia-Oculomotor Apraxia 4  
atelosteogenesis +   
Au-Kline Syndrome  
Auriculoosteodysplasia 
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 
Axenfeld-Rieger syndrome type 1  
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
Ayme-Gripp Syndrome  
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Baker Vinters Syndrome 
Baraitser-Winter syndrome +   
basal laminar drusen  
Bassoe Syndrome 
bestrophinopathy  
Beukes hip dysplasia  
Bhaskar Jagannathan Syndrome 
Birk-Barel syndrome  
Blepharochalasis and Double Lip 
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
Blount's disease 
Boomerang dysplasia  
Bothnia retinal dystrophy  
Brachymesomelia Renal Syndrome 
brachyolmia +   
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 
Brachytelephalangy Characteristic Facies Kallmann 
bradyopsia  
Branchial Cleft Anomalies 
Caffey disease +   
CAHMR Syndrome 
Calvarial Hyperostosis 
CAMFAK Syndrome 
campomelic dysplasia +   
Camptodactyly Syndrome Guadalajara Type 2 
Camurati-Engelmann disease +   
Capsule Opacification 
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
cataract 1 multiple types  
cataract 10 multiple types  
cataract 11 multiple types +   
cataract 12 multiple types  
cataract 13 with adult i phenotype  
cataract 14 multiple types  
cataract 15 multiple types  
cataract 16 multiple types  
cataract 17 multiple types  
cataract 18  
cataract 19 multiple types  
cataract 2 multiple types  
cataract 20 multiple types  
cataract 21 multiple types  
cataract 22 multiple types  
cataract 23  
cataract 24 
cataract 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
cataract 29 
cataract 3 multiple types  
cataract 30  
cataract 31 multiple types  
cataract 32 multiple types 
cataract 33  
cataract 34 multiple types  
cataract 35 
cataract 36  
cataract 37 
cataract 38  
cataract 39 multiple types  
cataract 4 multiple types +   
cataract 40  
cataract 41  
cataract 42  
cataract 43  
cataract 44  
cataract 45  
cataract 46 juvenile-onset  
Cataract 48  
cataract 5 multiple types  
cataract 6 multiple types  
cataract 7  
cataract 8 multiple types 
cataract 9 multiple types  
Cataract and Congenital Ichthyosis 
Cataract Ataxia Deafness 
Cataract Congenital Dominant Non Nuclear 
Cataract Hutterite Type  
Cataract Microcornea Syndrome  
Cataract, Age-Related Nuclear 
Cataract, Autosomal Dominant Nuclear  
Cataract, Autosomal Recessive Congenital 1 
Cataract, Cortical Pulverulent, Late-Onset 
Cataract, Crystalline Coralliform 
Cataract, Floriform 
Cataract, Lamellar 2  
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
Cataract, Polymorphic and Lamellar 
Cataract, Posterior Polar, 5 
Cataract, Progressive Polymorphic Cortical 
Cataract, Pulverulent 
Cataract, Sutural, with Punctate and Cerulean Opacities  
Cataract, Variable Zonular Pulverulent 
Cataract, Zonular Central Nuclear 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
Cavitary Optic Disc Anomalies  
CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
Cerebrooculonasal Syndrome 
CHITAYAT SYNDROME  
Cholestasis with Gallstone, Ataxia, and Visual Disturbance 
chondrodysplasia Blomstrand type  
Chondrodysplasia Calcificans Metaphysealis 
chondrodysplasia punctata +   
Chondrodysplasia with Joint Dislocations, GPAPP Type  
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia  
Chondrodysplasia, Megarbane-Dagher-Melki Type  
chondrodysplasia-pseudohermaphroditism syndrome  
Choroideremia +   
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 8q21.11 deletion 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 +   
Cleidorhizomelic Syndrome 
Cloverleaf Skull Micromelia Thoracic Dysplasia 
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
cocoon syndrome  
CODAS syndrome  
Collagenopathy, Type 2 Alpha 1 
Coloboma of Alar-Nasal Cartilages with Telecanthus 
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia  
combined oxidative phosphorylation deficiency 2  
cone-rod dystrophy +   
Congenital Alacrima +   
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
Congenital Cataracts, Hearing Loss, and Neurodegeneration  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
Congenital Fibrosis of Extraocular Muscles, 2  
Congenital Fibrosis of Extraocular Muscles, 3A, with or without Extraocular Involvement  
Congenital Fibrosis of Extraocular Muscles, 3B  
Congenital Fibrosis of Extraocular Muscles, 3C 
Congenital Fibrosis of Extraocular Muscles, 5  
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER  
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 
Congenital Micromelic Dysplasia with Dislocation of Radius +   
congenital muscular dystrophy with cataracts and intellectual disability  
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +   
Congenital Mydriasis +   
Cornea Guttata with Anterior Polar Cataract 
Cornea Plana 1 
Cornea Plana 2  
corneal dystrophy +   
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 +   
Crome Syndrome 
Crouzon syndrome +   
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
Curly Hair-Acral Keratoderma-Caries Syndrome 
Czech Dysplasia, Metatarsal Type  
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
Desanto-Shinawi Syndrome  
Desbuquois dysplasia +   
diabetic cataract  
Diaphanospondylodysostosis  
diastrophic dysplasia +   
Digitorenocerebral Syndrome  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Distal Arthrogryposis, with Hypopituitarism, Mental Retardation, and Facial Anomalies 
Diverticulosis of Bowel, Hernia, and Retinal Detachment 
DNA ligase IV deficiency  
Donohue syndrome  
Duane retraction syndrome +   
Dyschondrosteosis and Nephritis 
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  
Edict Syndrome  
Eiken Skeletal Dysplasia  
Ellis-Van Creveld syndrome +   
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 
enhanced S-cone syndrome  
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
Epiphyseal Dysplasia, Baumann Type 
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 
Fairbank Disease 
Faye-Petersen Ward Carey Syndrome 
Fg Syndrome 5 
fibrochondrogenesis +   
Fibrous Dysplasia of Bone +   
Fine-Lubinsky Syndrome 
Fleck Retina, Familial Benign  
Floating-Harbor syndrome  
Flynn Aird Syndrome 
Forebrain Defects  
Fountain Syndrome 
Foveal Hypoplasia +   
Foveal Hypoplasia with Anterior Segment Anomalies  
Fragile Site 16p12 
Fraser Jequier Chen Syndrome 
Fraser-Like Syndrome 
Fronto-Facio-Nasal Dysplasia 
Frontometaphyseal Dysplasia +   
Frontonasal Dysplasia +   
Frontoocular Syndrome 
Frontootopalatodigital Osteodysplasia 
Game Friedman Paradice Syndrome 
Geleophysic Dysplasia +   
Genitopatellar Syndrome  
Ghosal Hematodiaphyseal Dysplasia  
Glaucoma 1, Open Angle, P  
Goldberg-Shprintzen syndrome  
Goldstein Hutt Syndrome 
Gomez Lopez Hernandez Syndrome 
Gorlin Chaudhry Moss Syndrome 
Gracile Bone Dysplasia  
Grant Syndrome 
Graves Ophthalmopathy  
Greenberg Dysplasia  
Grouped Pigmentation of the Macula 
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
gyrate atrophy +   
Hall Riggs Mental Retardation Syndrome 
Hanhart Syndrome 
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Hecht Scott Syndrome 
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts  
Hennekam syndrome +   
hereditary night blindness +   
Hereditary Optic Atrophies +   
hereditary spastic paraplegia 9A  
high hyperopia  
Histiocytic Dermatoarthritis 
holoprosencephaly +   
Humeroradial Synostosis with Craniofacial Anomalies 
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 
hyperferritinemia-cataract syndrome  
Hyperostosis Frontalis Interna +  
Hypertelorism +   
hypertrichotic osteochondrodysplasia Cantu type  
Hypertrophic Neuropathy and Cataract 
hypochondrogenesis  
hypochondroplasia  
hypomyelinating leukodystrophy 5  
hypoparathyroidism-retardation-dysmorphism syndrome  
hypotonia-cystinuria syndrome  
Ichthyosis Cheek Eyebrow Syndrome 
IMAGe syndrome  
immunodeficiency-centromeric instability-facial anomalies syndrome +   
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES  
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES  
Iris Pigment Epithelium Anomalies 
Isolated Microphthalmia with Cataract 1 
Isolated Microphthalmia with Cataract 2  
Isolated Microphthalmia with Cataract 3  
Isolated Microphthalmia with Cataract 4 
ITM2B-related cerebral amyloid angiopathy 2  
Jequier Kozlowski Skeletal Dysplasia 
Jones Hersh Yusk Syndrome 
Joubert syndrome 8  
Juvenile Cataract, with Microcornea and Glucosuria  
Kahrizi syndrome  
Kapur Toriello Syndrome 
Karandikar Maria Kamble Syndrome 
Kashin-Beck Disease  
Keppen-Lubinsky Syndrome  
Kleefstra syndrome +   
Klippel-Feil syndrome 4  
Kniest dysplasia  
Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 
Knobloch Syndrome  
Knobloch Syndrome Type II 
Knobloch Syndrome Type III 
Kosztolanyi Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski Tsuruta Taki Syndrome 
Krasnow Qazi Syndrome 
Langer Mesomelic Dysplasia  
Laplane Fontaine Lagardere Syndrome 
Larsen Syndromes +   
Larsen-like syndrome B3GAT3 type  
Lattice Degeneration of Retina Leading to Retinal Detachment 
Leber congenital amaurosis +   
Leg, Absence Deformity of, with Congenital Cataract 
Leichtman Wood Rohn Syndrome 
LEOPARD syndrome +   
Leri-Weill dyschondrosteosis  
Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density 
Linear Skin Defects with Multiple Congenital Anomalies 2  
Lipodystrophy with Congenital Cataracts and Neurodegeneration  
Loeys-Dietz syndrome +   
Loucks-Innes Syndrome  
Lowry Wood Syndrome  
Lubinsky Syndrome 
Lujan Fryns Syndrome  
Macrocephaly +   
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
Macular Dystrophy, X-Linked +   
Madelung Deformity 
Maffucci syndrome 
Mandibuloacral Dysplasia with Type B Lipodystrophy  
Mandibulofacial Dysostosis Syndrome, Bauru Type 
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 
Marinesco-Sjogren syndrome  
Marshall syndrome +   
Marshall-Smith syndrome  
Martsolf syndrome  
Maxillofacial Abnormalities +   
megalocornea +   
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 
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 
Mesomelic Dwarfism Reinhardt Pfeiffer Type 
Mesomelic Dysplasia, Savarirayan Type 
Metaphyseal Anadysplasia +   
Metaphyseal Chondrodysplasia +   
metaphyseal dysplasia +   
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly  
Metaphyseal Dysplasia without Hypotrichosis  
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 
Metaphyseal Dysplasia, Braun-Tinschert Type 
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome  
Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth 
Metatropic Dwarfism, Type II 
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephalic Primordial Dwarfism Toriello Type 
microcephaly +   
Microcephaly and Chorioretinopathy +   
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS  
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, Retinitis Pigmentosa, and Sutural Cataract 
Microcephaly-Micromelia Syndrome  
Micromelic Dwarfism Fryns Type 
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
Microphthalmia, Cataracts, and Iris Abnormalities  
Microphthalmia, Syndromic 2  
midface dysplasia 
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  
Miura type epiphyseal chondrodysplasia  
Morillo-Cucci Passarge Syndrome 
Mousa Al din Al Nassar Syndrome 
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism  
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 
multiple epiphyseal dysplasia +   
Multisystem Autoimmune Disease, with Facial Dysmorphism  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
myofibrillar myopathy 2  
Myopathy, Cataract, Hypogonadism Syndrome 
Myopia, High, with Cataract and Vitreoretinal Degeneration  
myotonic cataract 
Nablus Mask-Like Facial Syndrome 
Nance-Horan syndrome  
Nathalie Syndrome 
NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES  
Neurofaciodigitorenal Syndrome 
Nievergelt Syndrome 
Noonan syndrome +   
O'Donnell Pappas Syndrome  
Oculoauriculofrontonasal syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculodentodigital dysplasia +   
Oculodentodigital Dysplasia, Autosomal Recessive  
Oculootofacial Dysplasia +   
Oculoskeletodental Syndrome  
Ollier disease  
omodysplasia +   
Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects 
Ophthalmomandibulomelic Dysplasia 
Opsismodysplasia  
optic atrophy 3  
Orbital Margin, Hypoplasia of 
orofaciodigital syndrome +   
Osebold Skeletal Dysplasia Osteolysis Syndrome 
Osteoarthritis with Mild Chondrodysplasia  
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE  
Osteochondroma +   
Osteodysplasia, Familial, Anderson Type 
osteogenesis imperfecta +   
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
osteoglophonic dysplasia  
osteosclerosis +   
Oto-Palato-Digital Syndrome Type 1  
Oto-Palato-Digital Syndrome, Type 2  
Otofacioosseous-Gonadal Syndrome 
Otopalatodigital Spectrum Disorder  
otospondylomegaepiphyseal dysplasia  
Pallister W Syndrome 
palmoplantar keratoderma and congenital alopecia 2 
Pashayan Syndrome 
Pavone Fiumara Rizzo Syndrome 
Pelvis-Shoulder Dysplasia 
Peripapillary Atrophy, Beta Type 
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive  
Peters Anomaly with Cataract 
PHARC syndrome  
Pigmented Paravenous Chorioretinal Atrophy  
Plagiocephaly +   
Platybasia +  
Pointer Syndrome 
Polycystic Kidney, Cataract, and Congenital Blindness 
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
Polydysspondyly 
PORETTI-BOLTSHAUSER SYNDROME  
Posterior Exchondrosis of Pinna 
posterior polar cataract  
Potato Nose  
Preauricular Fistulae, Congenital 
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski 
Premature Aging, Okamoto Type 
Prieto syndrome 
primary congenital glaucoma +   
progressive pseudorheumatoid arthropathy of childhood  
pseudoachondroplasia  
Pseudoaminopterin Syndrome 
pseudopapilledema 
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
Pubic Bone Dysplasia 
pycnodysostosis  
Radial Drusen, Autosomal Dominant 
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
Reardon Hall Slaney syndrome 
renal hypomagnesemia 5 with ocular involvement  
Retinal Aplasia 
Retinal Dysplasia +   
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT  
Retinal Dystrophy, Early Onset Severe  
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
retinal perforation +  
retinitis pigmentosa +   
Retinohepatoendocrinologic Syndrome 
Rhegmatogenous Retinal Detachment, Autosomal Dominant  
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 
Riddle syndrome  
Ritscher-Schinzel syndrome +   
Roberts syndrome  
Robinow syndrome +   
Roifman Syndrome  
Rommen Mueller Sybert Syndrome 
Rozin Hertz Goodman Syndrome 
Rubinstein-Taybi syndrome +   
SAPHO syndrome  
SAUL-WILSON SYNDROME  
Say Meyer Syndrome 
SC phocomelia syndrome  
SCARF Syndrome 
Schaap Taylor Baraitser Syndrome 
Schaefer Stein Oshman Syndrome 
Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias 
Schinzel-Giedion Syndrome  
schneckenbecken dysplasia  
Schwartz-Jampel syndrome 1  
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 
Seaver Cassidy Syndrome 
Seckel Like Syndrome Type Buebel 
Seemanova Lesny Syndrome 
Sener Syndrome 
Sengers syndrome  
senile cataract +   
Seow Najjar Syndrome 
Short Stature and Facioauriculothoracic Malformations 
Short Stature Syndrome, Brussels Type 
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES  
SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY  
Short Stature-Obesity Syndrome 
Silver-Russell syndrome +   
Silverman-Handmaker type dyssegmental dysplasia  
Simosa Cranio Facial Syndrome 
Singh Chhaparwal Dhanda Syndrome 
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 
Sketetal Dysplasia Coarse Facies Mental Retardation 
Slavotinek Pike Mills Hurst Syndrome 
Slipped Capital Femoral Epiphyses 
Smith-Kingsmore Syndrome  
Sonoda Syndrome 
Spinal Dysplasia, Anhalt Type 
Splenogonadal Fusion Limb Defects Micrognatia 
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia  
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like  
Spondyloenchondrodysplasia  
spondyloepimetaphyseal dysplasia +   
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant 
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive 
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type 
Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 
spondyloepiphyseal dysplasia with congenital joint dislocations  
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Spondyloepiphyseal Dysplasia with Punctate Corneal Dystrophy 
Spondyloepiphyseal Dysplasia, Kimberley Type  
Spondyloepiphyseal Dysplasia, Kondo-Fu Type  
Spondyloepiphyseal Dysplasia, Maroteaux Type  
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 
Spondyloepiphyseal Dysplasia, Nishimura Type  
Spondyloepiphyseal Dysplasia, Stanescu Type  
Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech 
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness 
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type  
Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism 
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy  
Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type  
Spondylometaphyseal Dysplasia, Algerian Type 
Spondylometaphyseal Dysplasia, Axial  
Spondylometaphyseal Dysplasia, East-African Type 
Spondylometaphyseal Dysplasia, Kozlowski Type  
Spondylometaphyseal Dysplasia, Sedaghatian Type  
Spondylometaphyseal Dysplasia, Type A4 
Spondylometaphyseal Dysplasia, X-Linked 
Spondyloocular Syndrome, Autosomal Recessive  
Spondyloperipheral Dysplasia  
Spondylospinal Thoracic Dysostosis 
Stickler Syndrome, Type I, Nonsyndromic Ocular  
Stuve-Wiedemann Syndrome  
Sweeney-Cox syndrome  
syndromic X-linked intellectual disability Abidi type 
Teebi Naguib Al Awadi syndrome 
Teebi Shaltout Syndrome 
Teebi Syndrome 
Telecanthus +   
Temtamy Syndrome  
Ter Haar Syndrome  
Terminal Osseous Dysplasia and Pigmentary Defects  
tetanic cataract 
Tetrasomy X 
thanatophoric dysplasia +   
Thoracolaryngopelvic Dysplasia 
Tollner Horst Manzke Syndrome 
Tracheobronchopathia Osteoplastica 
Tricho-Dento-Osseous Syndrome  
Trichorhinophalangeal Syndrome +   
Trichoscyphodysplasia 
Ulna Metaphyseal Dysplasia Syndrome 
Upington Disease 
Urioste Martinez-Frias Syndrome 
Van Bogaert-Hozay Syndrome 
Van Maldergem syndrome +   
Vascular Hyalinosis 
Verheij Syndrome  
Verloes Van Maldergem Marneffe Syndrome 
Vertebral Body Fusion Overgrowth 
Vici syndrome  
Viljoen Kallis Voges Syndrome 
vitelliform macular dystrophy +   
Vitreoretinochoroidopathy  
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Walker-Warburg syndrome +   
Warburg micro syndrome +   
Weaver syndrome  
Weill-Marchesani syndrome +   
WEISS-KRUSZKA SYNDROME  
Weissenbacher-Zweymuller syndrome +   
Wellesley Carmen French Syndrome 
White-Sutton syndrome  
Wiedemann Grosse Dibbern Syndrome 
Winter Shortland Temple Syndrome  
Wolcott-Rallison syndrome  
Worth's syndrome  
X-Linked Neurodevelopmental Disorder with Craniofacial Abnormalities  
Zimmerman Laband Syndrome +   
Zonular Cataract and Nystagmus  

Synonyms
Primary IDs: MESH:C565285 ;   RDO:0013966

paths to the root

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