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Term:
Congenital Cataracts, Facial Dysmorphism, and Neuropathy (DOID:9005826)
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 +     
22q11 Deletion Syndrome +   
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia  
3MC syndrome +   
Adams Nance Syndrome 
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Alazami Syndrome  
Alazami-Yuan Syndrome  
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alpha-B Crystallinopathy with Cataract 
alpha-methylacyl-CoA racemase deficiency  
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis  
Aniridia 1  
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract 
Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation 
Arthrogryposis Multiplex Congenita Whistling Face 
Arthrogryposis-like Hand Anomaly and Sensorineural Deafness 
Asymmetric Short Stature Syndrome 
Ataxia-Microcephaly-Cataract Syndrome 
Au-Kline Syndrome  
autoimmune disease of the nervous system +   
autonomic nervous system disease +   
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 
Axenfeld-Rieger syndrome type 1  
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
Ayme-Gripp Syndrome  
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Baker Vinters Syndrome 
Baraitser-Winter syndrome +   
Bassoe Syndrome 
Bhaskar Jagannathan Syndrome 
Birk-Barel syndrome  
Blepharochalasis and Double Lip 
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
Brachymesomelia Renal Syndrome 
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 
Brachytelephalangy Characteristic Facies Kallmann 
Branchial Cleft Anomalies 
CAHMR Syndrome 
Calvarial Hyperostosis 
CAMFAK Syndrome 
Camptodactyly Syndrome Guadalajara Type 2 
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 Hutterite Type  
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, 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  
central nervous system disease +   
Cerebellar, Ocular, Craniofacial, and Genital Syndrome  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
Cerebrooculonasal Syndrome 
CHITAYAT SYNDROME  
chromosome 13q14 deletion syndrome  
chromosome 17q11.2 deletion syndrome, 1.4Mb  
Chromosome 18 Pericentric Inversion 
chromosome 2p16.1-p15 deletion syndrome 
chromosome 2q31.2 deletion syndrome 
chromosome 8q21.11 deletion syndrome 
Chromosome Xq28 Duplication Syndrome 
Chronobiology Disorders +   
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
cleidocranial dysplasia +   
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
cocoon syndrome  
CODAS syndrome  
combined oxidative phosphorylation deficiency 2  
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
Congenital Cataracts, Hearing Loss, and Neurodegeneration  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder  
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 
congenital muscular dystrophy with cataracts and intellectual disability  
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +   
congenital nervous system abnormality +   
Cornea Guttata with Anterior Polar Cataract 
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA  
Costello syndrome  
Cousin Syndrome  
Cranioacrofacial Syndrome 
craniodiaphyseal dysplasia +   
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome  
Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells 
Craniofacial Dyssynostosis 
craniofacial-deafness-hand syndrome  
Craniofacioskeletal Syndrome 
craniofrontonasal syndrome  
craniolenticulosutural dysplasia  
Craniomicromelic Syndrome 
Craniorhiny 
craniosynostosis +   
Crome Syndrome 
Crouzon syndrome +   
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
Curly Hair-Acral Keratoderma-Caries Syndrome 
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
Desanto-Shinawi Syndrome  
Desbuquois dysplasia +   
diabetic cataract  
Diaphanospondylodysostosis  
Digitorenocerebral Syndrome  
diplegia of upper limb 
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Distal Arthrogryposis, with Hypopituitarism, Mental Retardation, and Facial Anomalies 
DNA ligase IV deficiency  
Donohue syndrome  
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  
EDICT Syndrome  
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 
Erosive Arthropathy 
EVEN-PLUS SYNDROME  
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis  
Facial Dysmorphism with Multiple Malformations +   
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Faciocardiomelic Syndrome 
Fg Syndrome 5 
Fine-Lubinsky Syndrome 
Floating-Harbor syndrome  
Flynn Aird Syndrome 
Forebrain Defects  
Fountain Syndrome 
Fragile Site 16p12 
Fraser-Like Syndrome 
Fronto-Facio-Nasal Dysplasia 
Frontonasal Dysplasia +   
Frontoocular Syndrome 
Frontootopalatodigital Osteodysplasia 
Game Friedman Paradice Syndrome 
Geleophysic Dysplasia +   
Genitopatellar Syndrome  
Gerstmann syndrome 
Goldberg-Shprintzen syndrome  
Goldstein Hutt Syndrome 
Gomez Lopez Hernandez Syndrome 
Gorlin Chaudhry Moss Syndrome 
Gracile Bone Dysplasia  
Grant Syndrome 
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Hall Riggs Mental Retardation Syndrome 
Hanhart Syndrome 
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Hecht Scott Syndrome 
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts  
Hennekam syndrome +   
hereditary spastic paraplegia 9A  
herpes zoster +   
High Myopia with Cataract and Vitreoretinal Degeneration  
holoprosencephaly +   
Humeroradial Synostosis with Craniofacial Anomalies 
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 
hyperferritinemia-cataract syndrome  
Hypertelorism +   
Hypertrophic Neuropathy and Cataract 
hypomyelinating leukodystrophy 5  
hypotonia-cystinuria syndrome  
Ichthyosis Cheek Eyebrow Syndrome 
immunodeficiency-centromeric instability-facial anomalies syndrome +   
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
Infantile Multisystem Neurologic Disease with Osseous Fragility 
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES  
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  
Jequier Kozlowski Skeletal Dysplasia 
Jones Hersh Yusk Syndrome 
Juvenile Cataract, with Microcornea and Glucosuria  
Kahrizi syndrome  
Kapur Toriello Syndrome 
Karandikar Maria Kamble Syndrome 
Keppen-Lubinsky Syndrome  
Kleefstra syndrome +   
Klippel-Feil syndrome 4  
Kosztolanyi Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Krasnow Qazi Syndrome 
Larsen-like syndrome B3GAT3 type  
Leg, Absence Deformity of, with Congenital Cataract 
Leichtman Wood Rohn Syndrome 
LEOPARD syndrome +   
Linear Skin Defects with Multiple Congenital Anomalies 2  
Lipodystrophy with Congenital Cataracts and Neurodegeneration  
Loeys-Dietz syndrome +   
Loucks-Innes Syndrome  
Lubinsky Syndrome 
Lujan Fryns Syndrome  
Macrocephaly +   
Mandibuloacral Dysplasia with Type B Lipodystrophy  
Mandibulofacial Dysostosis Syndrome, Bauru Type 
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 
Marinesco-Sjogren syndrome  
Marshall syndrome +   
Marshall-Smith syndrome  
Martsolf syndrome  
Maxillofacial Abnormalities +   
MEND Syndrome  
Menke-Hennekam Syndrome +   
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Microcephalic Primordial Dwarfism Toriello Type 
microcephaly +   
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS  
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 
MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
Microphthalmia, Cataracts, and Iris Abnormalities  
Microphthalmia, Syndromic 2  
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
Morillo-Cucci Passarge Syndrome 
Mousa Al din Al Nassar Syndrome 
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism  
Multisystem Autoimmune Disease, with Facial Dysmorphism  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
myofibrillar myopathy 2  
Myopathy, Cataract, Hypogonadism Syndrome 
myotonic cataract 
Nablus Mask-Like Facial Syndrome 
Nance-Horan syndrome  
Nathalie Syndrome 
Nerve Injuries +   
Nervous System Malformations +   
Nervous System Neoplasms +   
Neurocutaneous Syndromes +   
neurodegenerative disease +   
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  
Neurofaciodigitorenal Syndrome 
neurogenic arthrogryposis multiplex congenita +   
Neurologic Manifestations +   
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET  
neuronal intestinal dysplasia  
Noonan syndrome +   
Norrie disease  
O'Donnell Pappas Syndrome  
Oculoauriculofrontonasal syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculodentodigital dysplasia +   
Oculodentodigital Dysplasia, Autosomal Recessive  
Oculootofacial Dysplasia +   
Oculoskeletodental Syndrome  
optic atrophy 3  
Orbital Margin, Hypoplasia of 
orofaciodigital syndrome +   
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
Oto-Palato-Digital Syndrome Type 1  
Oto-Palato-Digital Syndrome, Type 2  
Otofacioosseous-Gonadal Syndrome 
Otopalatodigital Spectrum Disorder  
Pallister W Syndrome 
palmoplantar keratoderma and congenital alopecia 2 
Pashayan Syndrome 
Pavone Fiumara Rizzo Syndrome 
peripheral nervous system disease +   
Peters Anomaly with Cataract 
PHARC syndrome  
Plagiocephaly +   
Platybasia +  
Pointer Syndrome 
Polycystic Kidney, Cataract, and Congenital Blindness 
Polyglucosan Body Disease, Adult Form  
Posterior Exchondrosis of Pinna 
posterior polar cataract  
Potato Nose  
Preauricular Fistulae, Congenital 
Premature Aging, Okamoto Type 
Prieto syndrome 
Pseudoaminopterin Syndrome 
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
Reardon Hall Slaney syndrome 
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT  
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay  
Riddle syndrome  
Ritscher-Schinzel syndrome +   
Roberts syndrome  
Robinow syndrome +   
Rommen Mueller Sybert Syndrome 
Roy Maroteaux Kremp Syndrome 
Rozin Hertz Goodman Syndrome 
Rubinstein-Taybi syndrome +   
Say Meyer Syndrome 
SC phocomelia syndrome  
SCARF Syndrome 
Schaap Taylor Baraitser Syndrome 
Schaefer Stein Oshman Syndrome 
Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias 
Schinzel-Giedion Syndrome  
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 
Seaver Cassidy Syndrome 
Seckel Like Syndrome Type Buebel 
Seemanova Lesny Syndrome 
Sener Syndrome 
Sengers syndrome  
senile cataract +   
sensory system disease +   
Seow Najjar Syndrome 
Short Stature and Facioauriculothoracic Malformations 
SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES  
Short Stature-Obesity Syndrome 
Silver-Russell syndrome +   
Simosa Cranio Facial Syndrome 
Singh Chhaparwal Dhanda Syndrome 
Slavotinek Pike Mills Hurst Syndrome 
Smith-Kingsmore Syndrome  
Sonoda Syndrome 
Splenogonadal Fusion Limb Defects Micrognatia 
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Spondyloocular Syndrome, Autosomal Recessive  
Sweeney-Cox syndrome  
syndromic X-linked intellectual disability Abidi type 
Tang Hsi Ryu Syndrome 
Teebi Shaltout Syndrome 
Teebi Syndrome 
Telecanthus +   
Temtamy Syndrome  
Ter Haar Syndrome  
tetanic cataract 
Tetrasomy X 
Tollner Horst Manzke Syndrome 
toxic encephalopathy +   
Trauma, Nervous System +   
trichodontoosseous syndrome  
Urioste Martinez-Frias Syndrome 
Van Bogaert-Hozay Syndrome 
Van Maldergem syndrome +   
Verheij Syndrome  
Vertebral Body Fusion Overgrowth 
Vici syndrome  
Viljoen Kallis Voges Syndrome 
Warburg micro syndrome +   
Weaver syndrome  
WEISS-KRUSZKA SYNDROME  
Wellesley Carmen French Syndrome 
White-Sutton syndrome  
Wiedemann Grosse Dibbern Syndrome 
Winter Shortland Temple Syndrome  
Worth's syndrome  
X-Linked Neurodevelopmental Disorder with Craniofacial Abnormalities  
Zimmerman Laband Syndrome +   
Zonular Cataract and Nystagmus  

Synonyms
Exact Synonyms: CCFDN ;   Cataract, Congenital, With Facial Dysmorphism And Neuropathy
Primary IDs: MESH:C565822 ;   RDO:0014360
Alternate IDs: OMIM:604168

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