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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
cataract +     
genetic disease +     
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia  
Adams Nance Syndrome 
Adrenocortical Hypofunction, Chronic Primary Congenital 
adrenocorticotropic hormone deficiency  
advanced sleep phase syndrome 1  
advanced sleep phase syndrome 2  
advanced sleep phase syndrome 3  
age related macular degeneration 8  
Alagille syndrome  
Alpha-2-Deficient Collagen Disease 
Alpha-B Crystallinopathy with Cataract 
Alzheimer's disease 18  
Aniridia 1  
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract 
AQUAPORIN 1 DEFICIENCY  
Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation 
ataxia telangiectasia +   
Ataxia-Microcephaly-Cataract Syndrome 
ataxic cerebral palsy 
atrial heart septal defect 3  
atrial heart septal defect 4  
autoimmune lymphoproliferative syndrome +   
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
Ayme-Gripp Syndrome  
Bassoe Syndrome 
Bhaskar Jagannathan Syndrome 
brachydactyly type A1B 
brachydactyly type A1C  
brachydactyly type A1D  
brachydactyly type B1  
brachydactyly type B2  
brachydactyly type E1  
brachydactyly type E2  
Brugada syndrome +   
CADASIL +   
CAHMR Syndrome 
CAKUT2  
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  
A cataract that has_material_basis_in variation in the region 17q24. (DO)
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  
Cenani-Lenz syndactyly syndrome  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
CHARGE syndrome  
cherubism +   
chromosomal disease +   
ciliopathy +   
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
cocoon syndrome  
COL4A1-related familial vascular leukoencephalopathy  
complement factor I deficiency  
complex cortical dysplasia with other brain malformations 1  
complex cortical dysplasia with other brain malformations 2  
complex cortical dysplasia with other brain malformations 3  
complex cortical dysplasia with other brain malformations 4  
complex cortical dysplasia with other brain malformations 5  
complex cortical dysplasia with other brain malformations 6  
complex cortical dysplasia with other brain malformations 7  
congenital adrenal insufficiency  
congenital amegakaryocytic thrombocytopenia  
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
Congenital Cataracts, Hearing Loss, and Neurodegeneration  
congenital central hypoventilation syndrome  
congenital diarrhea +   
congenital hemolytic anemia +   
Congenital Hepatic Fibrosis  
congenital hypoplastic anemia +   
congenital hypotrichosis with juvenile macular dystrophy  
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 
congenital muscular dystrophy +   
congenital muscular dystrophy with cataracts and intellectual disability  
congenital myasthenic syndrome +   
Congenital Pain Insensitivity +   
Cornea Guttata with Anterior Polar Cataract 
corneal opacification and other ocular anomalies +   
cortical dysplasia-focal epilepsy syndrome  
corticosteroid-binding globulin deficiency  
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  
cutaneous T cell lymphoma +   
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
desquamative interstitial pneumonia  
dextro-looped transposition of the great arteries 1  
dextro-looped transposition of the great arteries 3  
diabetic cataract  
dilated cardiomyopathy 1A  
dilated cardiomyopathy 1AA  
dilated cardiomyopathy 1B  
dilated cardiomyopathy 1BB  
dilated cardiomyopathy 1C  
dilated cardiomyopathy 1CC  
dilated cardiomyopathy 1D  
dilated cardiomyopathy 1DD  
dilated cardiomyopathy 1E  
dilated cardiomyopathy 1EE  
dilated cardiomyopathy 1FF  
dilated cardiomyopathy 1G  
dilated cardiomyopathy 1GG  
dilated cardiomyopathy 1H  
dilated cardiomyopathy 1HH  
dilated cardiomyopathy 1I  
dilated cardiomyopathy 1II  
dilated cardiomyopathy 1J  
dilated cardiomyopathy 1JJ  
dilated cardiomyopathy 1K 
dilated cardiomyopathy 1KK  
dilated cardiomyopathy 1L  
dilated cardiomyopathy 1M  
dilated cardiomyopathy 1NN  
dilated cardiomyopathy 1O  
dilated cardiomyopathy 1P  
dilated cardiomyopathy 1Q 
dilated cardiomyopathy 1R  
dilated cardiomyopathy 1S  
dilated cardiomyopathy 1T  
dilated cardiomyopathy 1U  
dilated cardiomyopathy 1V  
dilated cardiomyopathy 1W  
dilated cardiomyopathy 1X  
dilated cardiomyopathy 1Y  
dilated cardiomyopathy 1Z  
dilated cardiomyopathy 2A  
dilated cardiomyopathy 2B  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
distal myopathy 1  
Doyne honeycomb retinal dystrophy  
Dwarfism +   
dystonia 12  
dystonia 16  
dystonia 21 
dystonia 23  
dystonia 24  
dystonia 25  
dystonia 27  
dystonia 5  
dystonia 9  
EAST syndrome  
Edict Syndrome  
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 
endocrine-cerebro-osteodysplasia syndrome  
episodic kinesigenic dyskinesia 1  
episodic kinesigenic dyskinesia 2 
Familial Cirrhosis +   
Familial Dysalbuminemic Hyperthyroxinemia  
Familial Hemophagocytic Lymphohistiocytoses +   
familial hypertrophic cardiomyopathy +   
familial hypocalciuric hypercalcemia +   
Familial Lipochrome Histiocytosis 
Familial Mixed Cryoglobulinemia  
familial nephrotic syndrome +   
Familial Temporal Epilepsy +   
fatal infantile hypertonic myofibrillar myopathy  
fibrodysplasia ossificans progressiva  
Fine-Lubinsky Syndrome 
Flynn Aird Syndrome 
focal segmental glomerulosclerosis 1  
focal segmental glomerulosclerosis 2  
focal segmental glomerulosclerosis 5  
focal segmental glomerulosclerosis 6  
focal segmental glomerulosclerosis 7  
focal segmental glomerulosclerosis 8  
focal segmental glomerulosclerosis 9  
FTDALS3  
FTDALS4  
Fuhrmann syndrome  
Genetic Skin Diseases +   
Goldberg-Shprintzen syndrome  
Goldstein Hutt Syndrome 
Greig cephalopolysyndactyly syndrome  
GRN-related frontotemporal lobar degeneration with TDP43 inclusions  
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 angioedema +   
Hereditary Epistaxis 
Hereditary Eye Diseases +   
hereditary lymphedema +   
Hereditary Neoplastic Syndromes +   
hereditary neutrophilia  
hereditary spastic paraplegia 9A  
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 
hyperekplexia 1  
hyperekplexia 2  
hyperekplexia 3  
hyperferritinemia-cataract syndrome  
hyperimmunoglobulin syndrome +   
hyperphosphatemia +   
Hypertrophic Neuropathy and Cataract 
hypogonadotropic hypogonadism 10 with or without anosmia  
hypogonadotropic hypogonadism 11 with or without anosmia  
hypogonadotropic hypogonadism 12 with or without anosmia  
hypogonadotropic hypogonadism 13 with or without anosmia  
hypogonadotropic hypogonadism 14 with or without anosmia  
hypogonadotropic hypogonadism 15 with or without anosmia  
hypogonadotropic hypogonadism 16 with or without anosmia  
hypogonadotropic hypogonadism 17 with or without anosmia  
hypogonadotropic hypogonadism 18 with or without anosmia  
hypogonadotropic hypogonadism 19 with or without anosmia  
hypogonadotropic hypogonadism 20 with or without anosmia  
hypogonadotropic hypogonadism 21 with or without anosmia  
hypogonadotropic hypogonadism 22 with or without anosmia  
hypogonadotropic hypogonadism 23 with or without anosmia  
hypogonadotropic hypogonadism 24 without anosmia  
hypogonadotropic hypogonadism 5 with or without anosmia +   
hypogonadotropic hypogonadism 6 with or without anosmia  
hypogonadotropic hypogonadism 7 with or without anosmia  
hypogonadotropic hypogonadism 8 with or without anosmia  
hypogonadotropic hypogonadism 9 with or without anosmia  
hypomyelinating leukodystrophy 5  
hypotrichosis 1  
hypotrichosis 10 
hypotrichosis 11  
hypotrichosis 12  
hypotrichosis 13  
hypotrichosis 2  
hypotrichosis 3  
hypotrichosis 4  
hypotrichosis 5 
hypotrichosis 6  
hypotrichosis 7  
hypotrichosis 8  
hypotrichosis 9 
IMMUNODEFICIENCY 31B  
Immunodeficiency 38, with Basal Ganglia Calcification  
immunoglobulin alpha deficiency +   
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
infantile histiocytoid cardiomyopathy  
inflammatory bowel disease 1  
inflammatory bowel disease 10  
inflammatory bowel disease 11 
inflammatory bowel disease 12  
inflammatory bowel disease 13  
inflammatory bowel disease 14  
inflammatory bowel disease 15 
inflammatory bowel disease 16  
inflammatory bowel disease 17  
inflammatory bowel disease 18 
inflammatory bowel disease 19  
inflammatory bowel disease 2 
inflammatory bowel disease 20 
inflammatory bowel disease 21 
inflammatory bowel disease 22 
inflammatory bowel disease 23 
inflammatory bowel disease 24 
inflammatory bowel disease 25  
inflammatory bowel disease 26 
inflammatory bowel disease 27 
inflammatory bowel disease 28  
inflammatory bowel disease 3 
inflammatory bowel disease 4 
inflammatory bowel disease 5  
inflammatory bowel disease 6 
inflammatory bowel disease 7 
inflammatory bowel disease 8 
inflammatory bowel disease 9 
inherited blood coagulation disease +   
inherited metabolic disorder +   
intrahepatic cholestasis of pregnancy 1  
intrahepatic cholestasis of pregnancy 3  
isolated microphthalmia 1  
isolated microphthalmia 2  
isolated microphthalmia 3  
isolated microphthalmia 4  
isolated microphthalmia 6  
isolated microphthalmia 7  
isolated microphthalmia 8  
Isolated Microphthalmia with Cataract 1 
Isolated Microphthalmia with Cataract 2  
Isolated Microphthalmia with Cataract 3  
Isolated Microphthalmia with Cataract 4 
Isolated Prolactin Deficiency 
ITM2B-related cerebral amyloid angiopathy 2  
Juvenile Cataract, with Microcornea and Glucosuria  
Kahrizi syndrome  
Kallmann syndrome +   
Karandikar Maria Kamble Syndrome 
Kartagener syndrome  
karyomegalic interstitial nephritis  
Kozlowski Rafinski Klicharska Syndrome 
Krasnow Qazi Syndrome 
Kufor-Rakeb syndrome  
lambda 5 deficiency 
Laminopathies  
Leg, Absence Deformity of, with Congenital Cataract 
Lennox-Gastaut syndrome  
lethal congenital contracture syndrome 1  
lethal congenital contracture syndrome 2  
lethal congenital contracture syndrome 3  
lethal congenital contracture syndrome 4  
lethal restrictive dermopathy  
Lipodystrophy with Congenital Cataracts and Neurodegeneration  
Lubinsky Syndrome 
lymphoproliferative syndrome 1  
lymphoproliferative syndrome 2  
Marfan syndrome +   
Marinesco-Sjogren syndrome  
Marshall Syndrome +   
Martsolf syndrome  
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, Cataracts, and Iris Abnormalities  
Microphthalmia, Syndromic 2  
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
Miyoshi muscular dystrophy 1  
Miyoshi muscular dystrophy 3  
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY  
monogenic disease +   
Mousa Al din Al Nassar Syndrome 
Mowat-Wilson syndrome  
Muenke syndrome  
myoclonic dystonia 11  
myoclonic dystonia 26  
myofibrillar myopathy 2  
Myopathy, Cataract, Hypogonadism Syndrome 
Myopia, High, with Cataract and Vitreoretinal Degeneration  
myotonic cataract 
Nance-Horan syndrome  
Nathalie Syndrome 
nemaline myopathy 1  
nemaline myopathy 10  
nemaline myopathy 11  
nemaline myopathy 2  
nemaline myopathy 3  
nemaline myopathy 4  
nemaline myopathy 5  
nemaline myopathy 6  
nemaline myopathy 7  
nemaline myopathy 8  
nemaline myopathy 9  
Nervous System Heredodegenerative Disorders +   
neurodegeneration with brain iron accumulation 2A  
neurodegeneration with brain iron accumulation 2B  
neurodegeneration with brain iron accumulation 3  
neurodegeneration with brain iron accumulation 4  
neurodegeneration with brain iron accumulation 6  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION  
neurodevelopmental disorder with midbrain and hindbrain malformations  
neurogenic arthrogryposis multiplex congenita +   
Nonimmune Chronic Idiopathic Neutropenia, Adult  
Noonan syndrome 10  
Noonan syndrome 3  
Noonan syndrome 5  
Noonan syndrome 8  
Noonan syndrome 9  
Norman-Roberts syndrome  
O'Donnell Pappas Syndrome  
Oculoskeletodental Syndrome  
Optic Atrophy and Cataract, Autosomal Dominant  
osteochondrodysplasia +   
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
palmoplantar keratoderma and congenital alopecia 2 
Parkinson's disease 17  
Parkinson's disease 19A  
Parkinson's disease 20  
Parotidomegaly, Hereditary Bilateral 
paroxysmal nonkinesigenic dyskinesia 1  
paroxysmal nonkinesigenic dyskinesia 2 
Pavone Fiumara Rizzo Syndrome 
Perry syndrome  
Peters anomaly +   
Peters Anomaly with Cataract 
Pfeiffer syndrome  
PHARC syndrome  
Pitt-Hopkins syndrome +   
platelet-type bleeding disorder 10  
poikiloderma with neutropenia  
polycystic kidney disease +   
Polycystic Kidney, Cataract, and Congenital Blindness 
posterior polar cataract  
postural orthostatic tachycardia syndrome  
Premature Aging, Okamoto Type 
primary autosomal recessive microcephaly +   
primary hypertrophic osteoarthropathy +   
progressive familial heart block type IA  
progressive familial heart block type IB  
progressive familial heart block type II 
progressive familial intrahepatic cholestasis +   
prune belly syndrome +   
pulmonary alveolar microlithiasis  
RASopathies  
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT  
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
Rh deficiency syndrome  
right atrial isomerism  
Ritscher-Schinzel syndrome 1  
Ritscher-Schinzel syndrome 2  
Sacral Agenesis with Vertebral Anomalies  
Saethre-Chotzen syndrome  
Schaap Taylor Baraitser Syndrome 
schizophrenia 1 
schizophrenia 10 
schizophrenia 11 
schizophrenia 12 
schizophrenia 13 
schizophrenia 14 
schizophrenia 15  
schizophrenia 16  
schizophrenia 18  
schizophrenia 2 
schizophrenia 3 
schizophrenia 4  
schizophrenia 5  
schizophrenia 6  
schizophrenia 7 
schizophrenia 8 
schizophrenia 9  
sclerosteosis 1  
sclerosteosis 2  
Seemanova Lesny Syndrome 
Sengers syndrome  
senile cataract +   
Seow Najjar Syndrome 
Singh Chhaparwal Dhanda Syndrome 
Slavotinek Pike Mills Hurst Syndrome 
Sorsby's fundus dystrophy  
SOST-related sclerosing bone dysplasia  
spermatogenic failure 10  
spermatogenic failure 11  
spermatogenic failure 12  
spermatogenic failure 13  
spermatogenic failure 14  
spermatogenic failure 15  
spermatogenic failure 16  
spermatogenic failure 17  
spermatogenic failure 18  
spermatogenic failure 19  
spermatogenic failure 20  
spermatogenic failure 21  
spermatogenic failure 22  
spermatogenic failure 23  
spermatogenic failure 3  
spermatogenic failure 4  
spermatogenic failure 5  
spermatogenic failure 6  
spermatogenic failure 7  
spermatogenic failure 8  
split hand-foot malformation 1  
split hand-foot malformation 1 with sensorineural hearing loss  
split hand-foot malformation 4  
split hand-foot malformation 6  
spondylocarpotarsal synostosis syndrome  
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Spondyloocular Syndrome, Autosomal Recessive  
Stormorken syndrome  
subacute sclerosing panencephalitis +   
tetanic cataract 
tibial muscular dystrophy  
torsion dystonia 17 
torsion dystonia 7  
ulnar-mammary syndrome  
Vici syndrome  
Warburg micro syndrome +   
Warsaw breakage syndrome  
Wellesley Carmen French Syndrome 
WHIM syndrome  
yellow nail syndrome +  
Zonular Cataract and Nystagmus  

Synonyms
Exact Synonyms: CATARACT 7, CERULEAN TYPE ;   CCA1 ;   CTRCT7 ;   Cataract, congenital, blue dot type 1 ;   Cataract, congenital, cerulean type 1 ;   Cerulean Cataract
Primary IDs: MESH:C537955
Alternate IDs: OMIM:115660 ;   RDO:0003879
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/7704021

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