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Term:
Congenital Cataracts, Hearing Loss, and Neurodegeneration (DOID:9005895)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
cataract +     
Hearing Loss +     
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia  
3p- syndrome 
Adams Nance Syndrome 
AL-RAQAD SYNDROME  
ALAZAMI-YUAN SYNDROME  
Alpha-B Crystallinopathy with Cataract 
Aniridia 1  
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract 
apraxia +   
Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation 
Asparagine Synthetase Deficiency  
Ataxia-Microcephaly-Cataract Syndrome 
Au-Kline Syndrome  
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
Ayme-Gripp Syndrome  
Bainbridge-Ropers Syndrome  
Basel-Vanagaite-Smirin-Yosef syndrome  
Bassoe Syndrome 
Behr Syndrome  
Bhaskar Jagannathan Syndrome 
Bowen-Conradi syndrome  
Branchial Arch Syndrome X-Linked 
CAHMR Syndrome 
CAMFAK Syndrome 
camptodactyly-tall stature-scoliosis-hearing loss 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  
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION  
chromosome 6pter-p24 deletion syndrome 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus  
Conductive Hearing Loss +   
Cone-Rod Dystrophy and Hearing Loss +   
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 
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  
De Hauwere Leroy Adriaenssens syndrome 
Deafness +   
Deafness, Autosomal Dominant, due to Mutation In Myo1a 
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
Deafness, Congenital Heart Defects, and Posterior Embryotoxon  
Deafness, Unilateral, with Delayed Endolymphatic Hydrops  
Deafness-Craniofacial Syndrome 
Developmental Delay, Epilepsy, and Neonatal Diabetes  
diabetic cataract  
Diaminopentanuria 
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Edict Syndrome  
Edinburgh Malformation Syndrome 
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2  
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 
Epilepsy, Hearing Loss, and Mental Retardation Syndrome  
Fine-Lubinsky Syndrome 
Flynn Aird Syndrome 
fumarase deficiency  
Functional Hearing Loss 
Genitopatellar Syndrome  
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15  
Goldstein Hutt Syndrome 
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
HAREL-YOON SYNDROME  
Hearing Loss, Bilateral +   
Hearing Loss, Mixed Conductive-Sensorineural +  
Hearing Loss, Unilateral +   
HEART AND BRAIN MALFORMATION SYNDROME  
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts  
hereditary spastic paraplegia 9A  
High-Frequency Hearing Loss  
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 
hyperferritinemia-cataract syndrome  
Hypertrophic Neuropathy and Cataract 
hypomyelinating leukodystrophy 5  
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
infantile cerebellar-retinal degeneration  
Infantile Hypotonia with Psychomotor Retardation +   
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN  
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  
Juvenile Cataract, with Microcornea and Glucosuria  
Kahrizi syndrome  
Karandikar Maria Kamble Syndrome 
Keppen-Lubinsky Syndrome  
Kozlowski Rafinski Klicharska Syndrome 
Krasnow Qazi Syndrome 
LADD syndrome  
Leg, Absence Deformity of, with Congenital Cataract 
Lipodystrophy with Congenital Cataracts and Neurodegeneration  
Loucks-Innes Syndrome  
Lubinsky Syndrome 
MacDermot Winter Syndrome 
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION  
Marinesco-Sjogren syndrome  
Marshall Syndrome +   
Martsolf syndrome  
Megarbane 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  
Microtia, Hearing Impairment, and Cleft Palate  
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS  
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
mitochondrial pyruvate carrier deficiency  
Mousa Al din Al Nassar Syndrome 
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
myofibrillar myopathy 2  
Myopathy, Cataract, Hypogonadism Syndrome 
Myopia, High, with Cataract and Vitreoretinal Degeneration  
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  
O'Donnell Pappas Syndrome  
Oculoskeletodental Syndrome  
Ogden syndrome  
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME  
Opitz Trigonocephaly Syndrome  
Optic Atrophy and Cataract, Autosomal Dominant  
Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant 
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
palmoplantar keratoderma and congenital alopecia 2 
Partial Aniridia with Unilateral Renal Agenesis and Psychomotor Retardation 
Pavone Fiumara Rizzo Syndrome 
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss  
Peters Anomaly with Cataract 
PHARC syndrome  
PHGDH deficiency  
Polycystic Kidney, Cataract, and Congenital Blindness 
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy  
posterior polar cataract  
Premature Aging, Okamoto Type 
PSAT deficiency  
PSPH deficiency  
Psychomotor Agitation +   
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
Reardon Wilson Cavanagh Syndrome 
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT  
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
Schaap Taylor Baraitser Syndrome 
Seemanova Lesny Syndrome 
Sengers syndrome  
senile cataract +   
sensorineural hearing loss +   
Seow Najjar Syndrome 
sepiapterin reductase deficiency  
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES  
Singh Chhaparwal Dhanda Syndrome 
Slavotinek Pike Mills Hurst Syndrome 
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness 
Spondyloocular Syndrome, Autosomal Recessive  
syndromic X-linked intellectual disability Abidi type 
tetanic cataract 
THAUVIN-ROBINET-FAIVRE SYNDROME  
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
uveal coloboma-cleft lip and palate-intellectual disability  
Verheij Syndrome  
Vici syndrome  
Warburg micro syndrome +   
Wellesley Carmen French Syndrome 
Zonular Cataract and Nystagmus  
ZTTK Syndrome  

Synonyms
Exact Synonyms: CCHLND
Primary IDs: OMIM:614482 ;   RDO:9000245

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