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Ontology Browser

Term:
ITM2B-related cerebral amyloid angiopathy 2 (DOID:0070030)
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 +     
cerebellar ataxia +     
Deafness +     
dementia +     
3-methylglutaconic aciduria type 5  
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia  
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  
abdominal obesity-metabolic syndrome +   
ablepharon macrostomia syndrome  
Absence of Tibia with Congenital Deafness 
achondrogenesis type II  
acrofacial dysostosis Cincinnati type  
acrokeratosis verruciformis  
Adams Nance Syndrome 
adermatoglyphia  
ADULT syndrome  
adult-onset autosomal dominant demyelinating leukodystrophy  
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia  
advanced sleep phase syndrome +   
agammaglobulinemia 5  
age related macular degeneration +   
AIDS Dementia Complex  
Albinism Deafness Syndrome 
Alexander Disease  
Alpha-B Crystallinopathy with Cataract 
Alzheimer's disease +   
Alzheimer's disease 1 +   
Alzheimer's disease 2  
Alzheimer's disease 3 +   
Alzheimer's disease 4  
Alzheimer's disease 5 
Alzheimer's disease 9  
amelogenesis imperfecta type 1A  
amelogenesis imperfecta type 1B  
amelogenesis imperfecta type 3A  
amelogenesis imperfecta type 3B  
amelogenesis imperfecta type 4  
Amyloid Angiopathy 
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1  
Andersen-Tawil syndrome  
Aniridia 1  
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract 
anterior segment dysgenesis +   
apolipoprotein C-III deficiency +   
APP-related cerebral amyloid angiopathy  
Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation 
arrhythmogenic right ventricular dysplasia 1  
arrhythmogenic right ventricular dysplasia 10  
arrhythmogenic right ventricular dysplasia 11  
arrhythmogenic right ventricular dysplasia 12  
arrhythmogenic right ventricular dysplasia 13  
arrhythmogenic right ventricular dysplasia 2  
arrhythmogenic right ventricular dysplasia 3 
arrhythmogenic right ventricular dysplasia 4 
arrhythmogenic right ventricular dysplasia 5  
arrhythmogenic right ventricular dysplasia 8  
arrhythmogenic right ventricular dysplasia 9  
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 
Ataxia with Myoclonic Epilepsy and Presenile Dementia 
ataxia with oculomotor apraxia type 1  
Ataxia-Microcephaly-Cataract Syndrome 
atrial heart septal defect 2  
atrial heart septal defect 5  
atrial heart septal defect 6  
atrial heart septal defect 7  
atrial heart septal defect 8  
atrial heart septal defect 9  
autoimmune lymphoproliferative syndrome type 2A  
autoimmune lymphoproliferative syndrome type 4  
autosomal dominant Alport syndrome  
autosomal dominant centronuclear myopathy +   
autosomal dominant cerebellar ataxia +   
autosomal dominant chondrodysplasia punctata +  
autosomal dominant chronic granulomatous disease 
autosomal dominant cutis laxa +   
autosomal dominant distal hereditary motor neuronopathy +   
Autosomal Dominant Dyskeratosis Congenita +   
autosomal dominant Emery-Dreifuss muscular dystrophy 4  
autosomal dominant Emery-Dreifuss muscular dystrophy 5  
autosomal dominant Emery-Dreifuss muscular dystrophy 7  
autosomal dominant endosteal hyperostosis  
autosomal dominant familial periodic fever  
autosomal dominant hyaline body myopathy  
autosomal dominant hypocalcemia +   
autosomal dominant hypophosphatemic rickets  
autosomal dominant isolated ectopia lentis 1  
autosomal dominant keratitis  
autosomal dominant keratitis-ichthyosis-deafness syndrome  
autosomal dominant limb-girdle muscular dystrophy +   
autosomal dominant macrothrombocytopenia TUBB1-related  
autosomal dominant mental retardation 55  
autosomal dominant mental retardation 56  
autosomal dominant microcephaly +   
autosomal dominant nocturnal frontal lobe epilepsy +   
autosomal dominant non-syndromic intellectual disability +   
autosomal dominant nonsyndromic deafness +   
autosomal dominant nonsyndromic deafness 65  
autosomal dominant osteopetrosis 1  
autosomal dominant osteopetrosis 2  
autosomal dominant polycystic kidney disease +   
autosomal dominant progressive external ophthalmoplegia 1  
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2  
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3  
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4  
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5  
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6  
autosomal dominant pseudohypoaldosteronism type 1  
autosomal dominant Robinow syndrome 1  
autosomal dominant Robinow syndrome 2  
autosomal dominant Robinow syndrome 3  
autosomal dominant sensory ataxia 1  
autosomal dominant sideroblastic anemia 4  
autosomal dominant type IV Ehlers-Danlos syndrome +   
autosomal dominant Wolfram syndrome  
autosomal recessive cerebellar ataxia +   
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 
Axenfeld-Rieger syndrome +   
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
Ayazi Syndrome 
Ayme-Gripp Syndrome  
Bannayan-Riley-Ruvalcaba syndrome  
Bart-Pumphrey syndrome  
Bassoe Syndrome 
Beare-Stevenson cutis gyrata syndrome  
Benign Cerebellar Ataxia with Thermoanalgesia 
benign familial hematuria  
Beukes hip dysplasia  
Bhaskar Jagannathan Syndrome 
bilateral optic nerve hypoplasia  
Birk-Barel syndrome  
Birt-Hogg-Dube syndrome  
Blau syndrome  
blepharocheilodontic syndrome +   
blepharophimosis, ptosis, and epicanthus inversus syndrome  
blue color blindness  
brachydactyly type A1 +   
brachydactyly type A2  
brachydactyly type C  
brachydactyly type D  
Brachydactyly-Nystagmus-Cerebellar Ataxia 
Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia 
Branchiogenic-Deafness Syndrome 
branchiooculofacial syndrome  
branchiootorenal syndrome +   
bronchiectasis 1  
bronchiectasis 2  
bronchiectasis 3  
Brooke-Spiegler syndrome  
Brown-Vialetto-Van Laere syndrome +   
Brugada syndrome 1  
Brugada syndrome 7  
Brugada syndrome 9  
bullous congenital ichthyosiform erythroderma  
Burn-Mckeown Syndrome  
CADASIL 1  
CADASIL 2  
CAHMR Syndrome 
CAMFAK Syndrome 
campomelic dysplasia +   
CAPOS Syndrome  
Capsule Opacification 
Cardioauditory Syndrome of Sanchez Cascos 
cardiofaciocutaneous syndrome 1  
cardiofaciocutaneous syndrome 2  
cardiofaciocutaneous syndrome 3  
cardiofaciocutaneous syndrome 4  
Carney complex +   
Carney-Stratakis syndrome  
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  
Cayman type cerebellar ataxia  
Cerebellar Ataxia and Hypergonadotropic Hypogonadism 
Cerebellar Ataxia and Hypogonadotropic Hypogonadism  
Cerebellar Ataxia and Neurosensory Deafness 
Cerebellar Ataxia Ectodermal Dysplasia 
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA  
CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME  
Cerebellar Hypoplasia with Endosteal Sclerosis  
Cerebellofaciodental Syndrome  
Cerebelloparenchymal Disorder II 
Cerebral Amyloidosis with Spongiform Encephalopathy +   
cerebrocostomandibular syndrome  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
Charcot-Marie-Tooth disease axonal type 2C  
Charcot-Marie-Tooth disease axonal type 2CC  
Charcot-Marie-Tooth disease axonal type 2F  
Charcot-Marie-Tooth disease axonal type 2K  
Charcot-Marie-Tooth disease axonal type 2L  
Charcot-Marie-Tooth disease axonal type 2N  
Charcot-Marie-Tooth disease axonal type 2O  
Charcot-Marie-Tooth disease axonal type 2P  
Charcot-Marie-Tooth disease axonal type 2Q  
Charcot-Marie-Tooth disease axonal type 2T  
Charcot-Marie-Tooth disease axonal type 2U  
Charcot-Marie-Tooth disease axonal type 2V  
Charcot-Marie-Tooth disease axonal type 2Z  
Charcot-Marie-Tooth disease dominant intermediate A 
Charcot-Marie-Tooth disease dominant intermediate B +   
Charcot-Marie-Tooth disease dominant intermediate C  
Charcot-Marie-Tooth disease dominant intermediate D  
Charcot-Marie-Tooth disease dominant intermediate E  
Charcot-Marie-Tooth disease dominant intermediate F  
Charcot-Marie-Tooth disease dominant intermediate G  
Charcot-Marie-Tooth disease type 1A  
Charcot-Marie-Tooth disease type 1B  
Charcot-Marie-Tooth disease type 1C  
Charcot-Marie-Tooth disease type 1D  
Charcot-Marie-Tooth disease type 1E  
Charcot-Marie-Tooth disease type 1F  
Charcot-Marie-Tooth disease type 2A1  
Charcot-Marie-Tooth disease type 2A2 +   
Charcot-Marie-Tooth disease type 2B  
Charcot-Marie-Tooth disease type 2D  
Charcot-Marie-Tooth disease type 2E  
Charcot-Marie-Tooth disease type 2I  
Charcot-Marie-Tooth disease type 2J  
Charcot-Marie-Tooth disease type 2Y  
Charcot-Marie-Tooth disease type 3  
Charcot-Marie-Tooth disease type 4E  
Charcot-Marie-Tooth disease type 5 
Charcot-Marie-Tooth disease, axonal type 2W  
cherubism +   
childhood onset GLUT1 deficiency syndrome 2  
CINCA syndrome  
cleidocranial dysplasia +   
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
COL4A1-related familial vascular leukoencephalopathy  
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus  
complex cortical dysplasia with other brain malformations +   
congenital adrenal insufficiency  
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
Congenital Cataracts, Hearing Loss, and Neurodegeneration  
congenital central hypoventilation syndrome  
Congenital Deafness and Familial Myoclonic Epilepsy 
Congenital Deafness, and Onychodystrophy, Autosomal Dominant  
Congenital Deafness, with Vitiligo and Achalasia 
congenital diarrhea 6  
congenital dyserythropoietic anemia type IV  
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 
congenital muscular dystrophy due to LMNA mutation  
congenital muscular dystrophy with cataracts and intellectual disability  
congenital myasthenic syndrome 18  
congenital myasthenic syndrome 1A  
congenital myasthenic syndrome 1B  
congenital myasthenic syndrome 2A  
congenital myasthenic syndrome 3A  
congenital myasthenic syndrome 4A  
congenital myasthenic syndrome 7  
Congenital Myopathy with Neuropathy and Deafness  
congenital nongoitrous hypothyroidism 2  
congenital nongoitrous hypothyroidism 3 
congenital nongoitrous hypothyroidism 5  
congenital nongoitrous hypothyroidism 6  
congenital stationary night blindness autosomal dominant 1  
congenital stationary night blindness autosomal dominant 2  
congenital stationary night blindness autosomal dominant 3  
Cornea Guttata with Anterior Polar Cataract 
Cornelia de Lange syndrome 1  
Cornelia de Lange syndrome 3  
Cornelia de Lange syndrome 4  
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA  
cortisone reductase deficiency 2  
Costello syndrome  
Cowden syndrome +   
Coxoauricular Syndrome 
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
craniometaphyseal dysplasia +   
Creutzfeldt-Jakob disease +   
Crome Syndrome 
Crouzon syndrome-acanthosis nigricans syndrome  
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
CST3-related cerebral amyloid angiopathy +   
Culler-Jones syndrome  
D-2-hydroxyglutaric aciduria 2  
Davenport Donlan Syndrome 
Deaf-Blind Disorders +   
DEAFNESS AND MYOPIA  
Deafness Hyperuricemia Neurologic Ataxia 
Deafness with Anhidrotic Ectodermal Dysplasia 
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
Deafness, Congenital Onychodystrophy, Recessive Form 
Deafness, with Smith-Magenis Syndrome  
Deafness, X-Linked 6  
deafness-dystonia-optic neuronopathy syndrome  
Dementia/Parkinsonism with Non-Alzheimer Amyloid Plaques 
Denys-Drash syndrome  
dextro-looped transposition of the great arteries 1  
dextro-looped transposition of the great arteries 3  
diabetic cataract  
Diffuse Neurofibrillary Tangles with Calcification 
dilated cardiomyopathy 1A  
dilated cardiomyopathy 1AA  
dilated cardiomyopathy 1B  
dilated cardiomyopathy 1C  
dilated cardiomyopathy 1CC  
dilated cardiomyopathy 1D  
dilated cardiomyopathy 1DD  
dilated cardiomyopathy 1E  
dilated cardiomyopathy 1HH  
dilated cardiomyopathy 1II  
dilated cardiomyopathy 1JJ  
dilated cardiomyopathy 1KK  
dilated cardiomyopathy 1NN  
dilated cardiomyopathy 1R  
dilated cardiomyopathy 1S  
dilated cardiomyopathy 1U  
dilated cardiomyopathy 1V  
dilated cardiomyopathy 1Y  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
distal myopathy 1  
dominant optic atrophy plus syndrome  
dominant pericentral pigmentary retinopathy 
Doyne honeycomb retinal dystrophy  
Duane-radial ray syndrome  
dysplastic nevus syndrome +   
dystonia 12  
dystonia 21 
dystonia 23  
dystonia 24  
dystonia 25  
dystonia 5  
dystonia 9  
Edict Syndrome  
EEC syndrome +   
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 
epidermolysis bullosa simplex Dowling-Meara type  
epidermolysis bullosa simplex generalized type +   
epidermolysis bullosa simplex localized type  
epidermolysis bullosa simplex Ogna type  
epidermolysis bullosa simplex with mottled pigmentation  
epidermolysis bullosa with congenital localized absence of skin and deformity of nails  
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
episodic ataxia type 5  
episodic ataxia type 6  
episodic kinesigenic dyskinesia 1  
episodic kinesigenic dyskinesia 2 
erythrokeratodermia variabilis et progressiva 1  
erythrokeratodermia variabilis et progressiva 2  
erythrokeratodermia variabilis et progressiva 3  
essential tremor 1  
essential tremor 2  
essential tremor 4  
essential tremor 5  
exudative vitreoretinopathy 1  
exudative vitreoretinopathy 3 
exudative vitreoretinopathy 5  
exudative vitreoretinopathy 6  
exudative vitreoretinopathy 7  
familial apolipoprotein A5 deficiency  
familial cold autoinflammatory syndrome 1  
familial cold autoinflammatory syndrome 2  
familial cold autoinflammatory syndrome 4  
familial encephalopathy with neuroserpin inclusion bodies  
familial erythrocytosis 1  
familial erythrocytosis 3  
familial erythrocytosis 5  
familial hemiplegic migraine 1  
familial hypocalciuric hypercalcemia +   
familial partial lipodystrophy type 2  
familial partial lipodystrophy type 3  
familial partial lipodystrophy type 4  
familial progressive hyperpigmentation with or without hypopigmentation  
familial temporal lobe epilepsy 1  
familial temporal lobe epilepsy 2 
familial temporal lobe epilepsy 3  
familial temporal lobe epilepsy 4 
familial temporal lobe epilepsy 5  
familial temporal lobe epilepsy 6 
familial temporal lobe epilepsy 7  
familial temporal lobe epilepsy 8  
Fanconi anemia complementation group R  
Feingold syndrome +   
fibrodysplasia ossificans progressiva  
Fine-Lubinsky Syndrome 
Finnish type amyloidosis  
Floating-Harbor syndrome  
Flynn Aird Syndrome 
focal segmental glomerulosclerosis 1  
focal segmental glomerulosclerosis 2  
focal segmental glomerulosclerosis 5  
focal segmental glomerulosclerosis 7  
focal segmental glomerulosclerosis 8  
Fountain Syndrome 
Frasier syndrome  
Frontotemporal Lobar Degeneration +   
Furukawa Takagi Nakao Syndrome 
giant axonal neuropathy 2  
Gillespie Syndrome  
gnathodiaphyseal dysplasia  
Goldstein Hutt Syndrome 
granular corneal dystrophy +   
Greig cephalopolysyndactyly syndrome  
GRN-related frontotemporal lobar degeneration with TDP43 inclusions  
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Hailey-Hailey disease  
Hajdu-Cheney syndrome  
hand-foot-genital syndrome  
Harding Ataxia 
hawkinsinuria  
Heinz body anemia  
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts  
hereditary breast ovarian cancer syndrome  
hereditary hemorrhagic telangiectasia +   
hereditary lymphedema IA  
hereditary lymphedema IC  
hereditary lymphedema ID  
hereditary multiple exostoses +   
hereditary neuropathy with liability to pressure palsies  
hereditary neutrophilia  
hereditary sensory and autonomic neuropathy type 1A  
hereditary sensory and autonomic neuropathy type 1C  
hereditary sensory and autonomic neuropathy type 7  
hereditary sensory neuropathy type 1B 
hereditary sensory neuropathy type 1D  
hereditary sensory neuropathy type 1E  
hereditary sensory neuropathy type 1F  
hereditary spastic paraplegia 10  
hereditary spastic paraplegia 12  
hereditary spastic paraplegia 13  
hereditary spastic paraplegia 17  
hereditary spastic paraplegia 19 
hereditary spastic paraplegia 24 
hereditary spastic paraplegia 29 
hereditary spastic paraplegia 31  
hereditary spastic paraplegia 33  
hereditary spastic paraplegia 36 
hereditary spastic paraplegia 37 
hereditary spastic paraplegia 38 
hereditary spastic paraplegia 3A  
hereditary spastic paraplegia 4  
hereditary spastic paraplegia 41 
hereditary spastic paraplegia 42  
hereditary spastic paraplegia 6  
hereditary spastic paraplegia 72  
hereditary spastic paraplegia 73  
hereditary spastic paraplegia 8  
hereditary spastic paraplegia 9A  
hereditary spherocytosis type 1  
hereditary spherocytosis type 2  
hereditary spherocytosis type 4  
Herrmann Syndrome 
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 
holoprosencephaly 1  
holoprosencephaly 11  
holoprosencephaly 2  
holoprosencephaly 3  
holoprosencephaly 4  
holoprosencephaly 5  
holoprosencephaly 7  
holoprosencephaly 9  
Holt-Oram syndrome  
Huntington's disease +   
Huntington's disease-like 2  
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 
hyper IgE recurrent infection syndrome 1  
hyperalphalipoproteinemia 1  
hyperekplexia 1  
hyperekplexia 3  
hyperferritinemia-cataract syndrome  
Hyperlipoproteinemia Type II, and Deafness 
HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 
hypertension and brachydactyly syndrome  
Hypertrophic Neuropathy and Cataract 
hypochondroplasia  
hypogonadotropic hypogonadism 14 with or without anosmia  
hypogonadotropic hypogonadism 15 with or without anosmia  
hypogonadotropic hypogonadism 16 with or without anosmia  
hypogonadotropic hypogonadism 17 with or without anosmia  
hypogonadotropic hypogonadism 18 with or without anosmia  
hypogonadotropic hypogonadism 19 with or without anosmia  
hypogonadotropic hypogonadism 2 with or without anosmia +   
hypogonadotropic hypogonadism 20 with or without anosmia  
hypogonadotropic hypogonadism 21 with or without anosmia  
hypogonadotropic hypogonadism 3 with or without anosmia  
hypogonadotropic hypogonadism 4 with or without anosmia  
hypogonadotropic hypogonadism 5 with or without anosmia +   
hypogonadotropic hypogonadism 6 with or without anosmia  
hypogonadotropic hypogonadism 9 with or without anosmia  
hypomyelinating leukodystrophy 5  
hypomyelinating leukodystrophy 6  
hypophosphatasia +   
hypotrichosis 1  
hypotrichosis 11  
hypotrichosis 12  
hypotrichosis 13  
hypotrichosis 2  
hypotrichosis 3  
hypotrichosis 4  
hypotrichosis 5 
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome  
Ichthyosiform Erythroderma, Corneal Involvement, Deafness 
ichthyosis vulgaris +   
Immunodeficiency 31C  
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1  
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2  
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3  
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
inflammatory bowel disease 21 
inflammatory bowel disease 3 
intellectual disability-severe speech delay-mild dysmorphism syndrome  
intrahepatic cholestasis of pregnancy 1  
intrahepatic cholestasis of pregnancy 3  
iridogoniodysgenesis syndrome +   
ischiocoxopodopatellar syndrome  
isolated elevated serum creatine phosphokinase levels  
isolated microphthalmia 7  
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 1  
ITM2B-related cerebral amyloid angiopathy 2  
A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of ITM2B on chromosome 13q14.2. (DO)
IVIC syndrome  
Jansen's metaphyseal chondrodysplasia  
Johnson Neuroectodermal Syndrome 
Jones Syndrome 
juvenile amyotrophic lateral sclerosis with dementia 
Juvenile Cataract, with Microcornea and Glucosuria  
juvenile glaucoma  
juvenile polyposis syndrome +   
Kahrizi syndrome  
Karandikar Maria Kamble Syndrome 
Keipert Syndrome  
Klippel-Feil syndrome 1  
Klippel-Feil syndrome 3  
Kluver-Bucy syndrome +  
Kniest dysplasia  
Kohlschutter Tonz Syndrome  
Konigsmark Knox Hussels Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Krasnow Qazi Syndrome 
LADD syndrome  
Larsen syndrome  
Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy 
lateral meningocele syndrome  
lattice corneal dystrophy +   
Leber congenital amaurosis 11  
Leber congenital amaurosis 13  
Leg, Absence Deformity of, with Congenital Cataract 
Lenz-Majewski hyperostotic dwarfism  
LEOPARD syndrome +   
Lewy body dementia +   
Li-Fraumeni syndrome +   
Lipodystrophy with Congenital Cataracts and Neurodegeneration  
Loeys-Dietz syndrome +   
long QT syndrome 1  
long QT syndrome 10 +   
long QT syndrome 11  
long QT syndrome 12  
long QT syndrome 13  
long QT syndrome 14  
long QT syndrome 15  
long QT syndrome 2  
long QT syndrome 3  
long QT syndrome 5  
long QT syndrome 6  
long QT syndrome 9  
Lubinsky Syndrome 
lymphedema-distichiasis syndrome +   
Lynch Lee Murday syndrome 
Lynch syndrome +   
macrocephaly-autism syndrome  
malignant hyperthermia +   
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome  
mandibulofacial dysostosis, Guion-Almeida type  
Marinesco-Sjogren syndrome  
Marshall syndrome +   
Martsolf syndrome  
MAST syndrome  
maturity-onset diabetes of the young +   
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations  
megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation  
Meier-Gorlin syndrome 6  
melanoma and neural system tumor syndrome  
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1  
metachondromatosis  
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome  
metatropic dysplasia  
Meyenburg-Altherr-Uehlinger Syndrome 
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly Deafness Syndrome 
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
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  
Miller-Dieker lissencephaly syndrome  
mitochondrial DNA depletion syndrome 12a  
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
Miura type epiphyseal chondrodysplasia  
monilethrix +   
Motor Neuron Disease with Dementia and Ophthalmoplegia 
Mousa Al din Al Nassar Syndrome 
Mowat-Wilson syndrome  
Muckle-Wells syndrome  
Muenke syndrome  
Mullerian aplasia and hyperandrogenism  
multicentric carpotarsal osteolysis syndrome  
multiple cutaneous and mucosal venous malformations  
Multiple Endocrine Neoplasia +   
multiple epiphyseal dysplasia 1  
multiple epiphyseal dysplasia 2  
multiple epiphyseal dysplasia 3  
multiple epiphyseal dysplasia 5  
multiple epiphyseal dysplasia 6  
multiple epiphyseal dysplasia with myopia and deafness  
Multiple Synostoses Syndrome 1  
Myelocerebellar Disorder  
myoclonic dystonia 11  
myoclonic dystonia 15 
myoclonic dystonia 26  
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 
Myoclonus, Cerebellar Ataxia, and Deafness 
myofibrillar myopathy 1  
myofibrillar myopathy 2  
myofibrillar myopathy 4  
myofibrillar myopathy 5  
myofibrillar myopathy 6  
Myopathy, Cataract, Hypogonadism Syndrome 
Myopia, High, with Cataract and Vitreoretinal Degeneration  
myotonic cataract 
nail-patella syndrome +   
Nance-Horan syndrome  
Nathalie Syndrome 
nemaline myopathy 1  
nemaline myopathy 4  
nemaline myopathy 6  
Nephrosis Deafness Urinary Tract Digital Malformation 
nephrotic syndrome type 4  
Neuhauser Eichner Opitz Syndrome 
neurodegeneration with brain iron accumulation 3  
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  
neurofibromatosis +   
nevoid basal cell carcinoma syndrome +   
Noninsulin-Dependent Diabetes Mellitus with Deafness  
nonprogressive cerebellar ataxia with mental retardation  
nonsyndromic deafness +   
Noonan syndrome 1  
Noonan syndrome 10  
Noonan syndrome 3  
Noonan syndrome 4  
Noonan syndrome 5  
Noonan syndrome 6  
Noonan syndrome 7  
Noonan syndrome 8  
Noonan syndrome 9  
O'Donnell Pappas Syndrome  
ocular albinism with sensorineural deafness  
Oculoskeletodental Syndrome  
Opitz GBBB Syndrome, Type II  
Opitz-GBBB syndrome +   
optic atrophy 1  
optic atrophy 10  
optic atrophy 3  
optic atrophy 4 
optic atrophy 5  
optic atrophy 8  
Opticocochleodentate Degeneration 
orofacial cleft 1  
orofacial cleft 13 
orofacial cleft 6  
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
osteogenesis imperfecta type 1  
osteogenesis imperfecta type 2 +   
osteogenesis imperfecta type 3  
osteogenesis imperfecta type 4  
osteogenesis imperfecta type 5  
osteoglophonic dysplasia  
ovarian dysgenesis 8  
pachyonychia congenita +   
Pallister-Hall syndrome +   
palmoplantar keratoderma and congenital alopecia 2 
palmoplantar keratoderma-deafness syndrome  
palmoplantar keratoderma-esophageal carcinoma syndrome  
PAPA syndrome  
paraganglioma +   
Parkinson's disease 1  
Parkinson's disease 17  
Parkinson's disease 21  
Parkinson's disease 22  
Parkinson's disease 3 
Parkinson's disease 4  
Parkinson's disease 8  
paroxysmal nonkinesigenic dyskinesia 1  
paroxysmal nonkinesigenic dyskinesia 2 
Pavone Fiumara Rizzo Syndrome 
Pelger-Huet anomaly +   
permanent neonatal diabetes mellitus +   
Perrault syndrome +   
Perry syndrome  
Peters Anomaly with Cataract 
Pfeiffer syndrome  
PHARC syndrome  
photosensitive trichothiodystrophy +   
piebaldism +   
Pitt-Hopkins syndrome +   
Polycystic Kidney, Cataract, and Congenital Blindness 
polycystic liver disease +   
popliteal pterygium syndrome +   
posterior polar cataract  
posterior polymorphous corneal dystrophy 1  
posterior polymorphous corneal dystrophy 2  
Premature Aging, Okamoto Type 
Presenile Dementia, Kraepelin Type 
primary failure of tooth eruption  
Primary Progressive Aphasia +   
progressive familial heart block type IA  
progressive familial heart block type IB  
progressive familial heart block type II 
progressive myoclonus epilepsy 7  
proximal symphalangism  
pseudoachondroplasia  
punctate palmoplantar keratoderma type III 
Ramos Arroyo Clark Syndrome 
Rapp-Hodgkin syndrome  
renal coloboma syndrome  
Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA 
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT  
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
retinitis pigmentosa 1  
retinitis pigmentosa 10  
retinitis pigmentosa 11  
retinitis pigmentosa 13  
retinitis pigmentosa 17  
retinitis pigmentosa 18  
retinitis pigmentosa 27  
retinitis pigmentosa 33  
retinitis pigmentosa 35  
retinitis pigmentosa 37  
retinitis pigmentosa 4  
retinitis pigmentosa 42  
retinitis pigmentosa 60  
retinitis pigmentosa 63 
retinitis pigmentosa 7  
retinitis pigmentosa 70  
retinitis pigmentosa 9  
retinitis pigmentosa-deafness syndrome  
Ribbonlike Corneal Degeneration with Deafness 
Richards-Rundle Syndrome 
Romano-Ward Syndrome  
Rubinstein-Taybi syndrome +   
SADDAN  
Saethre-Chotzen syndrome  
Schaap Taylor Baraitser Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
schizophrenia 1 
schizophrenia 10 
schizophrenia 11 
schizophrenia 12 
schizophrenia 15  
schizophrenia 2 
schizophrenia 3 
schizophrenia 4  
schizophrenia 5  
schizophrenia 6  
schizophrenia 7 
schizophrenia 8 
Schlegelberger Grote Syndrome 
sclerosteosis 2  
Secretory Diarrhea, Myopathy, and Deafness 
Seemanova Lesny Syndrome 
selective pituitary thyroid hormone resistance  
Sengers syndrome  
senile cataract +   
Seow Najjar Syndrome 
sepiapterin reductase deficiency  
SHORT syndrome  
short-rib thoracic dysplasia 9 with or without polydactyly  
SIDDIQI SYNDROME  
Singh Chhaparwal Dhanda Syndrome 
Sinoatrial Node Dysfunction and Deafness  
Slavotinek Pike Mills Hurst Syndrome 
solitary median maxillary central incisor  
Sorsby's fundus dystrophy  
Spastic Paraplegia, Optic Atrophy, and Dementia 
speech-language disorder-1  
spermatogenic failure 10  
spermatogenic failure 11  
spermatogenic failure 12  
spermatogenic failure 2 
spermatogenic failure 3  
spermatogenic failure 4  
spermatogenic failure 8  
split hand-foot malformation 1  
split hand-foot malformation 4  
spondyloepimetaphyseal dysplasia, Missouri type  
spondyloepimetaphyseal dysplasia, Strudwick type  
spondyloepiphyseal dysplasia congenita  
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Spondyloocular Syndrome, Autosomal Recessive  
Stickler syndrome +   
STING-associated vasculopathy with onset in infancy  
Stormorken syndrome  
Sweeney-Cox syndrome  
tarsal-carpal coalition syndrome  
temtamy preaxial brachydactyly syndrome  
tetanic cataract 
Thiel-Behnke corneal dystrophy  
tibial muscular dystrophy  
Tietz syndrome  
Timothy syndrome  
torsion dystonia 1  
torsion dystonia 13 
torsion dystonia 4  
torsion dystonia 6  
torsion dystonia 7  
torsion dystonia with onset in infancy 
Townes-Brocks syndrome +   
transthyretin amyloidosis  
Treacher Collins syndrome +   
trichorhinophalangeal syndrome type I  
trichorhinophalangeal syndrome type II  
trichorhinophalangeal syndrome type III  
tuberous sclerosis +   
type 1 diabetes mellitus 2  
Ullrich congenital muscular dystrophy +   
ulnar-mammary syndrome  
uveal coloboma-cleft lip and palate-intellectual disability  
vascular dementia +   
VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION  
Vici syndrome  
Waardenburg's syndrome +   
Warburg micro syndrome +   
Weaver syndrome  
WEISS-KRUSZKA SYNDROME  
Wellesley Carmen French Syndrome 
Wells Jankovic Syndrome 
WHIM syndrome  
Worth's syndrome  
Wright Dyck Syndrome 
X-linked Alport syndrome  
X-Linked Mental Retardation Gustavson Type 
X-Linked Retinitis Pigmentosa, and Sinorespiratory Infections, with or without Deafness  
Y-Linked Deafness +   
Yemenite Deaf-Blind Hypopigmentation Syndrome 
Zonular Cataract and Nystagmus  

Synonyms
Exact Synonyms: FDD ;   HOOE ;   cerebellar ataxia, cataract, deafness, and dementia or psychosis ;   familial Danish dementia ;   heredopathia ophthalmootoencephalica
Primary IDs: MESH:C538209
Alternate IDs: OMIM:117300 ;   RDO:0004153
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/10781099

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