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Ontology Browser

Term:
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT (DOID:9001283)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (2) Squirrel: (1) Pig: (2)
Parent Terms Term With Siblings Child Terms
cataract +     
coloboma +     
fundus dystrophy +     
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia  
Adams Nance Syndrome 
Alpha-B Crystallinopathy with Cataract 
Alsing Syndrome 
Aniridia 1  
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract 
Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma 
Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation 
Arima Syndrome 
Ataxia-Microcephaly-Cataract Syndrome 
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
Ayme-Gripp Syndrome  
Baraitser Rodeck Garner syndrome 
Baraitser-Winter syndrome +   
Bassoe Syndrome 
Bhaskar Jagannathan Syndrome 
Biemond Syndrome II 
Bothnia retinal dystrophy  
Boucher-Neuhauser syndrome  
Brachydactyly, Coloboma, and Anterior Segment Dysgenesis 
CAHMR Syndrome 
Calloso-Genital Dysplasia 
CAMFAK Syndrome 
Capsule Opacification 
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  
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
COACH Syndrome  
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
Coloboma of Alar-Nasal Cartilages with Telecanthus 
Coloboma of Macula and Skeletal Anomalies 
Coloboma of Macula Type B Brachydactyly 
coloboma of optic nerve  
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 
cone-rod dystrophy +   
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
Congenital Cataracts, Hearing Loss, and Neurodegeneration  
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 
congenital muscular dystrophy with cataracts and intellectual disability  
Cornea Guttata with Anterior Polar Cataract 
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome  
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Crome Syndrome 
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
diabetic cataract  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
dominant pericentral pigmentary retinopathy 
dystrophies primarily involving the retinal pigment epithelium +   
Edict Syndrome  
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 
Fine-Lubinsky Syndrome 
Flynn Aird Syndrome 
fundus albipunctatus  
Ghose Sachdev Kumar Syndrome 
Goldstein Hutt Syndrome 
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy  
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts  
Hereditary Macular Coloboma  
hereditary retinal dystrophy +   
hereditary spastic paraplegia 9A  
Hittner Hirsch Kreh Syndrome 
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 
hyperferritinemia-cataract syndrome  
Hypertrophic Neuropathy and Cataract 
hypomyelinating leukodystrophy 5  
Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
Isolated Microphthalmia with Cataract 1 
Isolated Microphthalmia with Cataract 2  
Isolated Microphthalmia with Cataract 3  
Isolated Microphthalmia with Cataract 4 
Isolated Microphthalmia with Coloboma +   
ITM2B-related cerebral amyloid angiopathy 2  
Juvenile Cataract, with Microcornea and Glucosuria  
Kahrizi syndrome  
Karandikar Maria Kamble Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Krasnow Qazi Syndrome 
Leg, Absence Deformity of, with Congenital Cataract 
Lipodystrophy with Congenital Cataracts and Neurodegeneration  
Lubinsky Syndrome 
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Marinesco-Sjogren syndrome  
Marles Greenberg Persaud Syndrome  
Marshall syndrome +   
Martsolf syndrome  
Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 
Microphthalmia and Mental Deficiency 
Microphthalmia Associated with Colobomatous Cyst 
Microphthalmia, Cataracts, and Iris Abnormalities  
Microphthalmia, Syndromic 2  
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME  
Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma 
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
Mousa Al din Al Nassar Syndrome 
myofibrillar myopathy 2  
Myopathy, Cataract, Hypogonadism Syndrome 
Myopia, High, with Cataract and Vitreoretinal Degeneration  
myotonic cataract 
Nance-Horan syndrome  
Nasopalpebral Lipoma Coloboma 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  
O'Donnell Pappas Syndrome  
Oculoskeletodental Syndrome  
optic atrophy 3  
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
Otodental Dysplasia 
palmoplantar keratoderma and congenital alopecia 2 
Pavone Fiumara Rizzo Syndrome 
Peters Anomaly with Cataract 
Pfeiffer Mayer Syndrome 
PHARC syndrome  
Polycystic Kidney, Cataract, and Congenital Blindness 
posterior polar cataract  
Premature Aging, Okamoto Type 
renal coloboma syndrome  
Reticular Dystrophy of Retinal Pigment Epithelium 
Reticular Pigmentary Retinal Dystrophy of Posterior Pole 
retinal dystrophies primarily involving Bruch's membrane 
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT  
Retinal Dystrophy and Obesity  
retinal dystrophy in systemic or cerebroretinal lipidoses 
RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES  
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES  
RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA  
Retinal Dystrophy, Early Onset Severe  
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome  
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
retinitis pigmentosa +   
Schaap Taylor Baraitser Syndrome 
Seemanova Lesny Syndrome 
Sengers syndrome  
senile cataract +   
Seow Najjar Syndrome 
Singh Chhaparwal Dhanda Syndrome 
Slavotinek Pike Mills Hurst Syndrome 
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Spondyloocular Syndrome, Autosomal Recessive  
Temtamy Syndrome  
tetanic cataract 
Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 
uveal coloboma-cleft lip and palate-intellectual disability  
Vici syndrome  
vitreoretinal dystrophy 
Warburg micro syndrome +   
Wellesley Carmen French Syndrome 
Yim Ebbin Syndrome 
Zonular Cataract and Nystagmus  
Zunich Neuroectodermal Syndrome  

Synonyms
Exact Synonyms: RDICC
Primary IDs: OMIM:616722 ;   RDO:9000402

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