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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
cataract +     
microphthalmia +     
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia  
Abruzzo Erickson Syndrome  
Achromatopsia Incomplete, X-Linked 
Adams Nance Syndrome 
Agammaglobulinemia, X-Linked, Type 2  
Aicardi syndrome 
Alpha-B Crystallinopathy with Cataract 
Alpha-Thalassemia Myelodysplasia Syndrome  
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis  
Alzheimer's disease 16 
androgen insensitivity syndrome +   
Anencephaly and Spina Bifida X-Linked 
angioma serpiginosum +  
Anhidrotic Ectodermal Dysplasia 1 +   
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema  
Aniridia 1  
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract 
Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation 
Arhinia, Choanal Atresia, and Microphthalmia  
Arthrogryposis, X-Linked, Type V 
Ataxia-Microcephaly-Cataract Syndrome 
Atypical Mycobacteriosis, Familial, X-Linked 1  
Atypical Mycobacteriosis, Familial, X-Linked 2  
Aughton Syndrome 
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
Ayme-Gripp Syndrome  
Bassoe Syndrome 
Behrens Baumann Dust Syndrome 
Bhaskar Jagannathan Syndrome 
Bornholm Eye Disease 
Branchial Arch Syndrome X-Linked 
Bresheck/Bresek Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
CAHMR Syndrome 
CAMFAK Syndrome 
Capsule Opacification 
Cardiac Valvular Dysplasia, X-Linked  
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  
A cataract that has_material_basis_in mutation in the NHS gene on chromosome Xp22. (DO)
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  
CHILD Syndrome  
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia  
Choroideremia +   
chromosome Xp11.23-p11.22 duplication syndrome 
Chromosome Xq28 Duplication Syndrome 
Cleft Palate with Ankyloglossia  
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
combined T cell and B cell immunodeficiency +   
Cone Dystrophy, X-Linked, with Tapetal-like Sheen 
Congenital Adrenal Hypoplasia with Precocious Puberty  
Congenital Alopecia X-Linked 
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
Congenital Cataracts, Hearing Loss, and Neurodegeneration  
Congenital Heart Defects, X-Linked +   
congenital hypogammaglobulinemia 
Congenital Idiopathic Intestinal Pseudoobstruction  
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 
congenital muscular dystrophy with cataracts and intellectual disability  
Congenital Ptosis, Hereditary 2 
Cornea Guttata with Anterior Polar Cataract 
Corpus Callosum, Partial Agenesis of, X-Linked  
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniofacioskeletal Syndrome 
Crome Syndrome 
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
Deafness, High-Frequency Sensorineural, X-Linked  
Deafness, X-Linked 1  
Deafness, X-Linked 3 
Deafness, X-Linked 4  
Deafness, X-Linked 5  
deafness-intellectual disability, Martin-Probst type syndrome  
diabetic cataract  
Dilated Cardiomyopathy 3A  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Distal Arthrogryposis Multiplex Congenita, X-Linked  
Duker Weiss Siber syndrome 
early infantile epileptic encephalopathy 8  
early infantile epileptic encephalopathy 9  
Early Onset Parkinsonism with Mental Retardation  
Edict Syndrome  
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 
Epidermodysplasia Verruciformis, X-Linked 
Episodic Muscle Weakness, X-Linked 
Erythropoietic Protoporphyria, X-Linked Dominant  
External Ophthalmoplegia and Myopia 
Fabry disease +   
favism  
Fetal Akinesia Syndrome, X-Linked 
Fg Syndrome 5 
Fine-Lubinsky Syndrome 
Flynn Aird Syndrome 
Frontonasal Dysplasia 3  
Ghose Sachdev Kumar Syndrome 
glycogen storage disease VIII 
Goldstein Hutt Syndrome 
GOMBO Syndrome 
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
HEART AND BRAIN MALFORMATION SYNDROME  
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts  
hereditary spastic paraplegia 9A  
Hittner Hirsch Kreh Syndrome 
Hodgkin Disease, X-Linked Pseudoautosomal 
Holoprosencephaly 10 
Hydrocephalus with Cerebellar Agenesis 
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 
hyperferritinemia-cataract syndrome  
Hypertrichosis Congenital Generalized X-Linked 
Hypertrophic Neuropathy and Cataract 
Hypogammaglobulinemia, X-Linked  
Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency  
hypomyelinating leukodystrophy 5  
Hypospadias 1, X-Linked  
Hypospadias 2, X-Linked  
Idiopathic Short Stature, X-Linked  
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
Intracranial Berry Aneurysm 5 
isolated microphthalmia 1  
isolated microphthalmia 2  
isolated microphthalmia 3  
isolated microphthalmia 4  
isolated microphthalmia 5  
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 Microphthalmia with Coloboma +   
Isolated Microphthalmia with Coloboma 1 
Isolated Microphthalmia with Corectopia 
Isolated Noncompaction of the Ventricular Myocardium +   
ITM2B-related cerebral amyloid angiopathy 2  
Juvenile Cataract, with Microcornea and Glucosuria  
Kahrizi syndrome  
Kaplowitz Bodurtha syndrome 
Karandikar Maria Kamble Syndrome 
Keipert Syndrome  
Keratosis Follicularis Spinulosa Decalvans, X-Linked  
Kozlowski Rafinski Klicharska Syndrome 
Krasnow Qazi Syndrome 
Leg, Absence Deformity of, with Congenital Cataract 
Leigh Syndrome, X-Linked  
Linear Skin Defects with Multiple Congenital Anomalies 3  
Lipodystrophy with Congenital Cataracts and Neurodegeneration  
Liver Glycogenosis, X-Linked, Type II 
Lubinsky Syndrome 
Macrosomia with Lethal Microphthalmia 
Macular Dystrophy, X-Linked +   
major affective disorder 2 
Marinesco-Sjogren syndrome  
Marshall syndrome +   
Martsolf syndrome  
Matthew-Wood syndrome  
Membranoproliferative Glomerulonephritis, X-Linked 
MEND Syndrome  
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mental Retardation, X-Linked +   
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly Microcornea Syndrome Seemanova Type 
Microcephaly Microphthalmos Blindness 
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, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism  
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 
Microcornea Corectopia Macular Hypoplasia 
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus  
Microgastria Limb Reduction Defect 
Microphthalmia and Mental Deficiency 
Microphthalmia Associated with Colobomatous Cyst 
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
Microphthalmia with Hyperopia, Retinal Degeneration, Macrophakia, and Dental Anomalies 
Microphthalmia, Cataracts, and Iris Abnormalities  
Microphthalmia, Syndromic 1  
Microphthalmia, Syndromic 10 
Microphthalmia, Syndromic 11  
Microphthalmia, Syndromic 12  
Microphthalmia, Syndromic 13  
Microphthalmia, Syndromic 2  
Microphthalmia, Syndromic 3  
Microphthalmia, Syndromic 4  
Microphthalmia, Syndromic 5  
Microphthalmia, Syndromic 6  
Microphthalmia, Syndromic 7  
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME  
Midline Defects, X-Linked 
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
Mousa Al din Al Nassar Syndrome 
Multiple Pterygium Syndrome, X-Linked 
myofibrillar myopathy 2  
Myopathy, Cataract, Hypogonadism Syndrome 
Myopathy, Reducing Body, X-Linked, Childhood-Onset  
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe  
Myopia 1 
Myopia 13 
MYOPIA 26, X-LINKED, FEMALE-LIMITED  
Myopia, High, with Cataract and Vitreoretinal Degeneration  
myotonic cataract 
Nance-Horan syndrome  
Nanophthalmos 1  
Nanophthalmos 2  
Nanophthalmos 3 
Nanophthalmos 4  
Nathalie Syndrome 
NEMO Mutation with Immunodeficiency 
Nephrogenic Syndrome of Inappropriate Antidiuresis  
Neural Tube Defects X-Linked 
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  
Nystagmus 1, Congenital, X- Linked  
Nystagmus 5, Infantile Periodic Alternating 
O'Donnell Pappas Syndrome  
Oculodentoosseous Dysplasia Recessive 
Oculoskeletodental Syndrome  
Opitz GBBB Syndrome, Type I  
optic atrophy 2 
optic atrophy 3  
ornithine carbamoyltransferase deficiency  
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
ovarian dysgenesis 2  
palmoplantar keratoderma and congenital alopecia 2 
Parkinson's Disease 12 
Pavone Fiumara Rizzo Syndrome 
Periventricular Nodular Heterotopia 4  
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
Peters Anomaly with Cataract 
PHARC syndrome  
Phosphoglycerate Kinase 1 Deficiency  
Polycystic Kidney, Cataract, and Congenital Blindness 
posterior polar cataract  
Premature Aging, Okamoto Type 
Premature Ovarian Failure 2a  
Progressive Hearing Loss Stapes Fixation  
Progressive Muscular Dystrophy, Pectorodorsal 
Properdin Deficiency, X-Linked  
Prostate Cancer, Hereditary, X-Linked 1 
Prostate Cancer, Hereditary, X-Linked 2 
Proud Syndrome  
Radial Ray Deficiency, X-Linked 
Radiation Sensitivity of Natural Killer Activity 
Radius Absent Anogenital Anomalies 
Reticulate Pigmentary Disorder, with Systemic Manifestations  
Reticuloendotheliosis, X-Linked 
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT  
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
retinitis pigmentosa 2  
retinitis pigmentosa 24 
retinitis pigmentosa 3  
retinitis pigmentosa 34 
retinitis pigmentosa 6 
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked  
Russell-Silver Syndrome, X-Linked 
Schaap Taylor Baraitser Syndrome 
Seemanova Lesny Syndrome 
Selective Tooth Agenesis, X-Linked, 1  
Sengers syndrome  
senile cataract +   
Seow Najjar Syndrome 
Severe Congenital Neutropenia, X-Linked  
Singh Chhaparwal Dhanda Syndrome 
Sketetal Dysplasia Coarse Facies Mental Retardation 
Slavotinek Pike Mills Hurst Syndrome 
Spina Bifida, X-Linked 
Spinocerebellar Ataxia, X-Linked 1  
Spinocerebellar Ataxia, X-Linked 5 
Spinocerebellar Ataxia, X-Linked, 3 
split hand-foot malformation 2 
Spondyloepimetaphyseal Dysplasia, X-Linked  
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Spondylometaphyseal Dysplasia, X-Linked 
Spondyloocular Syndrome, Autosomal Recessive  
Surfactant Metabolism Dysfunction, Pulmonary, 4  
Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria 
Terminal Osseous Dysplasia and Pigmentary Defects  
Testicular Germ Cell Tumor 1 
tetanic cataract 
Thomas Jewett Raines Syndrome 
Thrombocytopenia 1  
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis  
Thrombocytosis, Familial X-Linked 
Thyroxine-Binding Globulin Deficiency +   
Torticollis Keloids Cryptorchidism Renal Dysplasia 
uveal coloboma-cleft lip and palate-intellectual disability  
VACTERL/VATER Association with Hydrocephalus  
Vasquez Hurst Sotos Syndrome 
Vici syndrome  
Von Willebrand Disease, X-Linked Form 
Warburg micro syndrome +   
Wellesley Carmen French Syndrome 
Wells Jankovic Syndrome 
X Inactivation, Familial Skewed, 1  
X Inactivation, Familial Skewed, 2 
X-Linked Anemia with or without Neutropenia and/or Platelet Abnormalities  
X-Linked Anemia without Thrombocytopenia 
X-linked cleft palate with or without ankyloglossia  
X-linked cone-rod dystrophy 1  
X-linked cone-rod dystrophy 2 
X-linked congenital myopathy with fiber-type disproportion 
X-linked dilated cardiomyopathy  
X-linked distal spinal muscular atrophy 3  
X-linked dominant disease +   
X-Linked Epilepsy, with Variable Learning Disabilities and Behavior Disorders  
X-linked exudative vitreoretinopathy 2  
X-linked hereditary ataxia +   
X-Linked Hydrocephalus +   
X-linked hypoparathyroidism 
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 
X-Linked Modifier for Neurofunctional Defects 
X-linked nonsyndromic deafness +   
X-Linked Panhypopituitarism  
X-linked recessive disease +   
X-Linked Retinitis Pigmentosa, and Sinorespiratory Infections, with or without Deafness  
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy  
X-Linked Tetra-Amelia 
X-Linked Thrombocytopenia, Intermittent  
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia  
X-Linked Thrombophilia, due to Factor IX Defect  
X-Linked Vesicoureteral Reflux 
Zonular Cataract and Nystagmus  

Synonyms
Exact Synonyms: CATARACT 40 WITH OR WITHOUT MICROCORNEA ;   CCT ;   CTRCT40 ;   CXN ;   Cataract, total congenital with posterior sutural opacities in Heterozygotes ;   cataract 40, X-linked ;   congenital cataract with microcornea or slight microphthalmia ;   congenital cataract, X-linked ;   total congenital cataract
Primary IDs: MESH:C535338
Alternate IDs: OMIM:302200 ;   RDO:0000403
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/15370543

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