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Ontology Browser

Term:
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis (DOID:9000544)
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Parent Terms Term With Siblings Child Terms
cataract +     
hydrocephalus +     
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia +   
Aase Smith Syndrome 
Adams Nance Syndrome 
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Alpha-B Crystallinopathy with Cataract 
amelogenesis imperfecta +   
Ameloonychohypohidrotic Syndrome 
aniridia 1  
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract 
Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation 
Ataxia-Microcephaly-Cataract Syndrome 
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
Ayme-Gripp syndrome  
Baker Vinters Syndrome 
Baralle-Macken Syndrome  
Bassoe Syndrome 
Beemer Ertbruggen Syndrome 
Bhaskar Jagannathan Syndrome 
Bor-Duane Hydrocephalus Contiguous Gene Syndrome 
CAHMR Syndrome 
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 47  
cataract 48  
Cataract 49  
cataract 5 multiple types  
Cataract 50 with or without Glaucoma  
cataract 6 multiple types  
cataract 7  
cataract 8 multiple types 
cataract 9 multiple types  
Cataract and Congenital Ichthyosis 
Cataract Ataxia Deafness 
Cataract Microcornea Syndrome  
Cataract, Age-Related Nuclear 
Cataract, Autosomal Dominant Nuclear  
Cataract, Autosomal Recessive Congenital 1  
Cataract, Congenital Dominant Non Nuclear  
Cataract, Cortical Pulverulent, Late-Onset 
Cataract, Crystalline Coralliform 
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  
Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis +   
CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY  
cerebrooculofacioskeletal syndrome 2  
cerebrooculofacioskeletal syndrome 4  
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia  
Clark-Baraitser syndrome  
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
Cole-Carpenter syndrome +   
communicating hydrocephalus +   
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
Congenital Cataracts, Hearing Loss, and Neurodegeneration  
Congenital Hydrocephalus 2, with or without Brain or Eye Anomalies  
Congenital Hydrocephalus 3, with Brain Anomalies  
Congenital Hydrocephalus 5  
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 
congenital muscular dystrophy with cataracts and intellectual disability  
Cornea Guttata with Anterior Polar Cataract 
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Crome Syndrome 
Daentl Towsend Siegel Syndrome 
Daish Hardman Lamont Syndrome 
Dandy-Walker syndrome +   
De Hauwere syndrome  
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY  
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
diabetic cataract  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
EDICT Syndrome  
Edinburgh Malformation Syndrome 
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 
Familial Partial Lipodystrophy Type 7  
Fine-Lubinsky Syndrome  
Floriform Cataract 
Flynn Aird Syndrome 
foveal hypoplasia 1  
Game Friedman Paradice Syndrome 
Goldstein Hutt Syndrome 
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 spastic paraplegia 9A  
High Myopia with Cataract and Vitreoretinal Degeneration  
Hydrocephalus with Cerebellar Agenesis 
Hydrocephalus, Autosomal Dominant 
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 
Hydrocephalus, Skeletal Anomalies, and Mental Disturbance 
hydrolethalus syndrome +   
hyperferritinemia-cataract syndrome  
Hypertrophic Neuropathy and Cataract 
hypomyelinating leukodystrophy 5  
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
Iris Dysplasia Hypertelorism Deafness 
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  
Kahrizi syndrome  
Karandikar Maria Kamble Syndrome 
Kozlowski Brown Hardwick Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Krasnow Qazi Syndrome 
Leg, Absence Deformity of, with Congenital Cataract 
Lubinsky Syndrome 
Marinesco-Sjogren syndrome  
Marshall syndrome +   
Martsolf Syndrome +   
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus 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 
Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1  
Microphthalmia, Cataracts, and Iris Abnormalities  
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
Mousa Al din Al Nassar Syndrome 
myofibrillar myopathy 2  
Myopathy, Cataract, Hypogonadism Syndrome 
myotonic cataract 
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  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA  
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 
normal pressure hydrocephalus +   
obstructive hydrocephalus  
Oculodentodigital Dysplasia, Autosomal Recessive  
Oculoskeletodental Syndrome  
optic atrophy 3  
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
Palmer Pagon Syndrome 
palmoplantar keratoderma and congenital alopecia 2 
Pavone Fiumara Rizzo Syndrome 
Peters Anomaly with Cataract 
Pfeiffer Palm Teller Syndrome 
PHARC syndrome  
Polycystic Kidney, Cataract, and Congenital Blindness 
posterior polar cataract  
Posthemorrhagic Hydrocephalus  
Premature Aging, Okamoto Type 
Radius Absent Anogenital Anomalies 
Remitting Chorea with Nystagmus and Cataracts 
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT  
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 
Schaap Taylor Baraitser Syndrome 
Schwartz Cohen-Addad Lambert Syndrome 
Seemanova Lesny Syndrome 
Sengers syndrome  
senile cataract +   
Seow Najjar Syndrome 
Singh Chhaparwal Dhanda Syndrome 
Singleton Merten Syndrome +   
Slavotinek Pike Mills Hurst Syndrome 
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability 
Spondyloocular Syndrome, Autosomal Recessive  
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
syndromic microphthalmia 2  
tetanic cataract 
Thoracic Dysplasia-Hydrocephalus Syndrome 
trichodontoosseous syndrome  
Trichoodontoonychial Dysplasia 
TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME  
ventriculomegaly - cystic kidney disease  
Ventriculomegaly with Defects of the Radius and Kidney 
Vici syndrome  
Waaler Aarskog Syndrome 
Warburg micro syndrome +   
Wellesley Carmen French Syndrome 
X-Linked Hydrocephalus +   
X-linked VACTERL association  
Yim Ebbin Syndrome 
Zonular Cataract and Nystagmus 

Synonyms
Primary IDs: MESH:C563430
Alternate IDs: OMIM:600907

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