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Term:
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts (DOID:9002502)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
calcinosis +     
cataract +     
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia  
Adams Nance Syndrome 
alpha-2-plasmin inhibitor deficiency  
Alpha-B Crystallinopathy with Cataract 
Aniridia 1  
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract 
Aortic Valve, Calcification of  
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  
Baraitser Brett Piesowicz Syndrome 
basal ganglia calcification +   
Bassoe Syndrome 
Bernard-Soulier syndrome +   
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification 
Bhaskar Jagannathan Syndrome 
blood platelet disease +   
CAHMR Syndrome 
Calcific Aortic Disease with Immunologic Abnormalities, Familial 
Calcification of Joints and Arteries +   
calciphylaxis 
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 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  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
Choroid Plexus Calcification with Mental Retardation 
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
Cole Disease  
congenital afibrinogenemia +   
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 
CREST syndrome  
Crome Syndrome 
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
diabetic cataract  
diffuse idiopathic skeletal hyperostosis +   
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
disseminated intravascular coagulation +   
Edict Syndrome  
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
Epilepsy, Occipital Calcifications 
essential thrombocythemia  
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 
factor V deficiency +   
factor VII deficiency  
factor VIII deficiency +   
factor X deficiency  
factor XI deficiency  
factor XII deficiency  
factor XIII deficiency +   
Familial Hemorrhagic Diathesis due to Antithrombin 
Fatal Fetal Cardiomyopathy due to Myocardial Calcification 
Fine-Lubinsky Syndrome 
Flynn Aird Syndrome 
Glanzmann's thrombasthenia +   
Goldstein Hutt Syndrome 
Greenberg Dysplasia  
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
hemophilia B  
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts  
hereditary spastic paraplegia 9A  
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 
hyperferritinemia-cataract syndrome  
hyperphosphatemic familial tumoral calcinosis +   
Hypertrophic Neuropathy and Cataract 
hypomyelinating leukodystrophy 5  
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
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 
Keutel Syndrome  
Kozlowski Rafinski Klicharska Syndrome 
Krasnow Qazi Syndrome 
Labrune Syndrome  
Leg, Absence Deformity of, with Congenital Cataract 
Lipodystrophy with Congenital Cataracts and Neurodegeneration  
Lubinsky Syndrome 
Marinesco-Sjogren syndrome  
Marshall syndrome +   
Martsolf syndrome  
Medial Coronary Sclerosis of Infancy  
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  
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
Mousa Al din Al Nassar Syndrome 
myofibrillar myopathy 2  
Myopathy, Cataract, Hypogonadism Syndrome 
Myopia, High, with Cataract and Vitreoretinal Degeneration  
myotonic cataract 
Nance-Horan syndrome  
Nathalie Syndrome 
nephrocalcinosis +   
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification 
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  
normophosphatemic familial tumoral calcinosis  
O'Donnell Pappas Syndrome  
Oculoskeletodental Syndrome  
optic atrophy 3  
Ossified Ear Cartilages 
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
palmoplantar keratoderma and congenital alopecia 2 
Pavone Fiumara Rizzo Syndrome 
Peters Anomaly with Cataract 
PHARC syndrome  
Piepkorn Karp Hickok syndrome 
Plasminogen Activator Inhibitor-1 Deficiency  
platelet storage pool deficiency +   
Polycystic Kidney, Cataract, and Congenital Blindness 
posterior polar cataract  
Premature Aging, Okamoto Type 
Primrose Syndrome  
prothrombin deficiency +   
Pseudo-TORCH Syndrome +   
pulmonary alveolar microlithiasis  
purpura +   
Rajab Syndrome  
Rambaud Galian Syndrome 
Renal Hypophosphatemia with Intracerebral Calcifications 
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT  
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
Schaap Taylor Baraitser Syndrome 
Schofer Beetz Bohl Syndrome 
Sclerosing Osteomalacia with Cerebral Calcification 
Seemanova Lesny Syndrome 
Sengers syndrome  
senile cataract +   
Seow Najjar Syndrome 
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  
Storm Syndrome 
tetanic cataract 
Tropical Calcific Pancreatitis  
Vascular Calcification +   
vascular hemostatic disease +   
Vici syndrome  
vitamin K deficiency bleeding  
von Willebrand's disease +   
Warburg micro syndrome +   
Waterhouse-Friderichsen syndrome +  
Wellesley Carmen French Syndrome 
Whyte Murphy Fallon Sly syndrome 
Wiskott-Aldrich syndrome +   
Zonular Cataract and Nystagmus  

Synonyms
Exact Synonyms: HDBSCC
Primary IDs: OMIM:613730 ;   RDO:0009957

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