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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:cataract
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Accession:DOID:83 term browser browse the term
Definition:A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision. (DO)
Synonyms:exact_synonym: Lens Opacification;   cataracts;   lens opacities;   lens opacity;   membranous cataract;   membranous cataracts;   pseudoaphakia;   pseudoaphakias
 narrow_synonym: CONGENITAL NUCLEAR CATARACT;   CORTICAL PULVERULENT CATARACT;   congenital cataract
 primary_id: MESH:D002386
 xref: EFO:0001059;   ICD10CM:H26;   ICD9CM:366.8;   MONDO:0005129;   OMIM:PS116200
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    • Term paths to the root
    Path 1
    Term Annotations click to browse term
      disease 199753
        sensory system disease 68296
          eye disease 34850
            lens disease 4327
              cataract 4217
                3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia + 538
                Adams Nance Syndrome 0
                Alpha-B Crystallinopathy with Cataract 0
                Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract 0
                Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation 0
                Ataxia-Microcephaly-Cataract Syndrome 0
                Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 0
                Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 0
                Ayme-Gripp syndrome 9
                Baralle-Macken Syndrome 10
                Bassoe Syndrome 0
                Bhaskar Jagannathan Syndrome 0
                CAHMR Syndrome 0
                CAMFAK Syndrome 0
                CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 10
                CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY 10
                Capsule Opacification 0
                Cataract 49 10
                Cataract 50 with or without Glaucoma 10
                Cataract Ataxia Deafness 0
                Cataract Microcornea Syndrome 19
                Cataract and Congenital Ichthyosis 0
                Cataract, Age-Related Nuclear 0
                Cataract, Autosomal Dominant Nuclear 19
                Cataract, Autosomal Recessive Congenital 1 9
                Cataract, Congenital Dominant Non Nuclear 8
                Cataract, Cortical Pulverulent, Late-Onset 0
                Cataract, Crystalline Coralliform 0
                Cataract, Lamellar 2 10
                Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 0
                Cataract, Polymorphic and Lamellar 0
                Cataract, Posterior Polar, 5 0
                Cataract, Progressive Polymorphic Cortical 0
                Cataract, Pulverulent 0
                Cataract, Sutural, with Punctate and Cerulean Opacities 9
                Cataract, Variable Zonular Pulverulent 0
                Cataract, Zonular Central Nuclear 0
                Cataracts, Ataxia, Short Stature, and Mental Retardation 0
                Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis + 20
                Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 0
                Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 0
                Congenital Cataracts, Facial Dysmorphism, and Neuropathy 19
                Congenital Cataracts, Hearing Loss, and Neurodegeneration 10
                Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 0
                Cornea Guttata with Anterior Polar Cataract 0
                Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 0
                Crome Syndrome 0
                DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY 10
                Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 0
                Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 0
                EDICT Syndrome 6
                Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 0
                Familial Partial Lipodystrophy Type 7 10
                Fine-Lubinsky Syndrome 30
                Floriform Cataract 0
                Flynn Aird Syndrome 0
                Goldstein Hutt Syndrome 0
                Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 0
                Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts 10
                High Myopia with Cataract and Vitreoretinal Degeneration 12
                Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 0
                Hypertrophic Neuropathy and Cataract 0
                ITM2B-related cerebral amyloid angiopathy 2 12
                Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development 10
                Isolated Microphthalmia with Cataract 1 0
                Isolated Microphthalmia with Cataract 2 20
                Isolated Microphthalmia with Cataract 3 0
                Isolated Microphthalmia with Cataract 4 10
                Kahrizi syndrome 11
                Karandikar Maria Kamble Syndrome 0
                Kozlowski Rafinski Klicharska Syndrome 0
                Krasnow Qazi Syndrome 0
                Leg, Absence Deformity of, with Congenital Cataract 0
                Lubinsky Syndrome 0
                Marinesco-Sjogren syndrome 11
                Marshall syndrome + 41
                Martsolf Syndrome + 198
                Microcephalic Primordial Dwarfism Toriello Type 0
                Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum 10
                Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 10
                Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 0
                Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 0
                Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 12
                Microphthalmia, Cataracts, and Iris Abnormalities 20
                Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay 21
                Mousa Al din Al Nassar Syndrome 0
                Myopathy, Cataract, Hypogonadism Syndrome 0
                NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA 10
                Nance-Horan syndrome 169
                Nathalie Syndrome 0
                Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 10
                Oculoskeletodental Syndrome 10
                Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 0
                PHARC syndrome 15
                Pavone Fiumara Rizzo Syndrome 0
                Peters Anomaly with Cataract 0
                Polycystic Kidney, Cataract, and Congenital Blindness 0
                Premature Aging, Okamoto Type 0
                RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT 15
                Remitting Chorea with Nystagmus and Cataracts 0
                Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 20
                Schaap Taylor Baraitser Syndrome 0
                Seemanova Lesny Syndrome 0
                Sengers syndrome 22
                Seow Najjar Syndrome 0
                Singh Chhaparwal Dhanda Syndrome 0
                Slavotinek Pike Mills Hurst Syndrome 0
                Spondyloocular Syndrome, Autosomal Recessive 10
                Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 12
                TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME 10
                Vici syndrome 184
                Warburg micro syndrome + 45
                Wellesley Carmen French Syndrome 0
                Zonular Cataract and Nystagmus 0
                aniridia 1 83
                cataract 1 multiple types 62
                cataract 10 multiple types 10
                cataract 11 multiple types + 21
                cataract 12 multiple types 12
                cataract 13 with adult i phenotype 70
                cataract 14 multiple types 79
                cataract 15 multiple types 10
                cataract 16 multiple types 20
                cataract 17 multiple types 20
                cataract 18 10
                cataract 19 multiple types 11
                cataract 2 multiple types 15
                cataract 20 multiple types 10
                cataract 21 multiple types 75
                cataract 22 multiple types 9
                cataract 23 90
                cataract 24 0
                cataract 25 0
                cataract 26 multiple types 0
                cataract 27 20
                cataract 28 0
                cataract 29 0
                cataract 3 multiple types 19
                cataract 30 21
                cataract 31 multiple types 10
                cataract 32 multiple types 0
                cataract 33 30
                cataract 34 multiple types 10
                cataract 35 0
                cataract 36 12
                cataract 37 0
                cataract 38 10
                cataract 39 multiple types 8
                cataract 4 multiple types + 9
                cataract 40 11
                cataract 41 10
                cataract 42 10
                cataract 43 10
                cataract 44 10
                cataract 45 10
                cataract 46 juvenile-onset 11
                cataract 47 11
                cataract 48 11
                cataract 5 multiple types 244
                cataract 6 multiple types 21
                cataract 7 16
                cataract 8 multiple types 0
                cataract 9 multiple types 627
                cerebrooculofacioskeletal syndrome 2 20
                cerebrooculofacioskeletal syndrome 4 20
                congenital muscular dystrophy with cataracts and intellectual disability 10
                diabetic cataract 10
                foveal hypoplasia 1 22
                hereditary spastic paraplegia 9A 10
                hyperferritinemia-cataract syndrome 24
                hypomyelinating leukodystrophy 5 81
                myofibrillar myopathy 2 10
                myotonic cataract 0
                neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 10
                neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 11
                optic atrophy 3 10
                palmoplantar keratoderma and congenital alopecia 2 0
                posterior polar cataract 10
                senile cataract + 165
                spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability 0
                syndromic microphthalmia 2 22
                tetanic cataract 0
    Path 2
    Term Annotations click to browse term
      disease 199753
        disease of anatomical entity 168001
          nervous system disease 142643
            Neurologic Manifestations 99982
              sensory system disease 68296
                eye disease 34850
                  lens disease 4327
                    cataract 4217
                      3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia + 538
                      Adams Nance Syndrome 0
                      Alpha-B Crystallinopathy with Cataract 0
                      Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract 0
                      Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation 0
                      Ataxia-Microcephaly-Cataract Syndrome 0
                      Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 0
                      Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 0
                      Ayme-Gripp syndrome 9
                      Baralle-Macken Syndrome 10
                      Bassoe Syndrome 0
                      Bhaskar Jagannathan Syndrome 0
                      CAHMR Syndrome 0
                      CAMFAK Syndrome 0
                      CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 10
                      CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY 10
                      Capsule Opacification 0
                      Cataract 49 10
                      Cataract 50 with or without Glaucoma 10
                      Cataract Ataxia Deafness 0
                      Cataract Microcornea Syndrome 19
                      Cataract and Congenital Ichthyosis 0
                      Cataract, Age-Related Nuclear 0
                      Cataract, Autosomal Dominant Nuclear 19
                      Cataract, Autosomal Recessive Congenital 1 9
                      Cataract, Congenital Dominant Non Nuclear 8
                      Cataract, Cortical Pulverulent, Late-Onset 0
                      Cataract, Crystalline Coralliform 0
                      Cataract, Lamellar 2 10
                      Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 0
                      Cataract, Polymorphic and Lamellar 0
                      Cataract, Posterior Polar, 5 0
                      Cataract, Progressive Polymorphic Cortical 0
                      Cataract, Pulverulent 0
                      Cataract, Sutural, with Punctate and Cerulean Opacities 9
                      Cataract, Variable Zonular Pulverulent 0
                      Cataract, Zonular Central Nuclear 0
                      Cataracts, Ataxia, Short Stature, and Mental Retardation 0
                      Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis + 20
                      Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 0
                      Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 0
                      Congenital Cataracts, Facial Dysmorphism, and Neuropathy 19
                      Congenital Cataracts, Hearing Loss, and Neurodegeneration 10
                      Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 0
                      Cornea Guttata with Anterior Polar Cataract 0
                      Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 0
                      Crome Syndrome 0
                      DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY 10
                      Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 0
                      Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 0
                      EDICT Syndrome 6
                      Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 0
                      Familial Partial Lipodystrophy Type 7 10
                      Fine-Lubinsky Syndrome 30
                      Floriform Cataract 0
                      Flynn Aird Syndrome 0
                      Goldstein Hutt Syndrome 0
                      Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 0
                      Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts 10
                      High Myopia with Cataract and Vitreoretinal Degeneration 12
                      Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 0
                      Hypertrophic Neuropathy and Cataract 0
                      ITM2B-related cerebral amyloid angiopathy 2 12
                      Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development 10
                      Isolated Microphthalmia with Cataract 1 0
                      Isolated Microphthalmia with Cataract 2 20
                      Isolated Microphthalmia with Cataract 3 0
                      Isolated Microphthalmia with Cataract 4 10
                      Kahrizi syndrome 11
                      Karandikar Maria Kamble Syndrome 0
                      Kozlowski Rafinski Klicharska Syndrome 0
                      Krasnow Qazi Syndrome 0
                      Leg, Absence Deformity of, with Congenital Cataract 0
                      Lubinsky Syndrome 0
                      Marinesco-Sjogren syndrome 11
                      Marshall syndrome + 41
                      Martsolf Syndrome + 198
                      Microcephalic Primordial Dwarfism Toriello Type 0
                      Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum 10
                      Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 10
                      Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 0
                      Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 0
                      Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 12
                      Microphthalmia, Cataracts, and Iris Abnormalities 20
                      Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay 21
                      Mousa Al din Al Nassar Syndrome 0
                      Myopathy, Cataract, Hypogonadism Syndrome 0
                      NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA 10
                      Nance-Horan syndrome 169
                      Nathalie Syndrome 0
                      Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 10
                      Oculoskeletodental Syndrome 10
                      Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 0
                      PHARC syndrome 15
                      Pavone Fiumara Rizzo Syndrome 0
                      Peters Anomaly with Cataract 0
                      Polycystic Kidney, Cataract, and Congenital Blindness 0
                      Premature Aging, Okamoto Type 0
                      RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT 15
                      Remitting Chorea with Nystagmus and Cataracts 0
                      Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 20
                      Schaap Taylor Baraitser Syndrome 0
                      Seemanova Lesny Syndrome 0
                      Sengers syndrome 22
                      Seow Najjar Syndrome 0
                      Singh Chhaparwal Dhanda Syndrome 0
                      Slavotinek Pike Mills Hurst Syndrome 0
                      Spondyloocular Syndrome, Autosomal Recessive 10
                      Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 12
                      TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME 10
                      Vici syndrome 184
                      Warburg micro syndrome + 45
                      Wellesley Carmen French Syndrome 0
                      Zonular Cataract and Nystagmus 0
                      aniridia 1 83
                      cataract 1 multiple types 62
                      cataract 10 multiple types 10
                      cataract 11 multiple types + 21
                      cataract 12 multiple types 12
                      cataract 13 with adult i phenotype 70
                      cataract 14 multiple types 79
                      cataract 15 multiple types 10
                      cataract 16 multiple types 20
                      cataract 17 multiple types 20
                      cataract 18 10
                      cataract 19 multiple types 11
                      cataract 2 multiple types 15
                      cataract 20 multiple types 10
                      cataract 21 multiple types 75
                      cataract 22 multiple types 9
                      cataract 23 90
                      cataract 24 0
                      cataract 25 0
                      cataract 26 multiple types 0
                      cataract 27 20
                      cataract 28 0
                      cataract 29 0
                      cataract 3 multiple types 19
                      cataract 30 21
                      cataract 31 multiple types 10
                      cataract 32 multiple types 0
                      cataract 33 30
                      cataract 34 multiple types 10
                      cataract 35 0
                      cataract 36 12
                      cataract 37 0
                      cataract 38 10
                      cataract 39 multiple types 8
                      cataract 4 multiple types + 9
                      cataract 40 11
                      cataract 41 10
                      cataract 42 10
                      cataract 43 10
                      cataract 44 10
                      cataract 45 10
                      cataract 46 juvenile-onset 11
                      cataract 47 11
                      cataract 48 11
                      cataract 5 multiple types 244
                      cataract 6 multiple types 21
                      cataract 7 16
                      cataract 8 multiple types 0
                      cataract 9 multiple types 627
                      cerebrooculofacioskeletal syndrome 2 20
                      cerebrooculofacioskeletal syndrome 4 20
                      congenital muscular dystrophy with cataracts and intellectual disability 10
                      diabetic cataract 10
                      foveal hypoplasia 1 22
                      hereditary spastic paraplegia 9A 10
                      hyperferritinemia-cataract syndrome 24
                      hypomyelinating leukodystrophy 5 81
                      myofibrillar myopathy 2 10
                      myotonic cataract 0
                      neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 10
                      neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 11
                      optic atrophy 3 10
                      palmoplantar keratoderma and congenital alopecia 2 0
                      posterior polar cataract 10
                      senile cataract + 165
                      spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability 0
                      syndromic microphthalmia 2 22
                      tetanic cataract 0
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