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Ontology Browser

Term:
Cerebroretinal Microangiopathy with Calcifications and Cysts (DOID:9003025)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
Ataxia +     
Brain Neoplasms +     
calcinosis +     
Coats disease +     
Muscle Spasticity +     
visual epilepsy +     
Abetalipoproteinemia Neuropathy 
Adams Nance Syndrome 
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia  
Adult-Onset Muscular Dystrophy with Leukoencephalopathy 
Alcohol Withdrawal Seizures  
Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 
Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert 
Aortic Valve, Calcification of  
Arachnoid Cysts +   
Arthrogryposis, Mental Retardation, and Seizures  
Arts syndrome  
Ataxia and Polyneuropathy, Adult-Onset  
Ataxia with Fasciculations 
Ataxia with Myoclonic Epilepsy and Presenile Dementia 
ataxia with oculomotor apraxia type 3  
Ataxia, Deafness, and Cardiomyopathy 
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS  
Ataxia-Microcephaly-Cataract Syndrome 
Ataxia-Oculomotor Apraxia 4  
ataxic cerebral palsy 
Atonic-Astatic Syndrome of Foerster 
autosomal dominant non-syndromic intellectual disability 6  
Bangstad Syndrome 
Baraitser Brett Piesowicz Syndrome 
Baraitser Rodeck Garner syndrome 
basal ganglia calcification +   
Behr Syndrome  
Benign Childhood Paroxysmal Tonic Upgaze with Ataxia 
benign glioma +   
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification 
Bhaskar Jagannathan Syndrome 
brain cancer +   
Brain Neoplasms, Radiation-Induced 
Calcific Aortic Disease with Immunologic Abnormalities, Familial 
Calcification of Joints and Arteries +   
calciphylaxis 
CANOMAD Syndrome 
Carnitine Acetyltransferase Deficiency  
Cataract Ataxia Deafness 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
central neurocytoma 
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy  
Cerebral Sarcoma 
Cerebral Ventricle Neoplasms +   
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
childhood onset epileptic encephalopathy +   
Childhood-Onset Spasticity with Hyperglycinemia  
Choroid Plexus Calcification with Mental Retardation 
Christianson syndrome  
chromosome 15q13.3 microdeletion syndrome  
COACH Syndrome  
coenzyme Q10 deficiency disease +   
COL4A1-related familial vascular leukoencephalopathy  
Cole Disease  
Colloid Cysts +  
Combined Oxidative Phosphorylation Deficiency 12  
Copper Deficiency, Familial Benign 
Craniosynostosis 2  
CREST syndrome  
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
Cystic Leukoencephalopathy without Megalencephaly  
Deafness Hyperuricemia Neurologic Ataxia 
Demyelinating Autoimmune Diseases, CNS +   
Desmoplastic Cerebral Astrocytoma of Infancy 
developmental delay and seizures with or without movement abnormalities  
Diaminopentanuria 
diffuse idiopathic skeletal hyperostosis +   
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Dysmyelination with Jaundice 
dystonia 9  
EAST syndrome  
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
Encephalopathy, Spastic Tetraparesis, and Hypogonadism 
Epilepsy, Occipital Calcifications 
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy  
Erythrokeratodermia with Ataxia  
Experimental Seizures  
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 
Familial Capillaro-Venous Leptomeningeal Angiomatosis 
Familial Convulsive Disorder with Prenatal or Early Onset 
Familial Infantile Convulsions and Paroxysmal Choreoathetosis  
familial isolated deficiency of vitamin E  
Fatal Fetal Cardiomyopathy due to Myocardial Calcification 
Fitzsimmons Walson Mellor Syndrome 
Gait Ataxia +   
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
Greenberg Dysplasia  
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts  
hereditary ataxia +   
Hereditary Central Nervous System Demyelinating Diseases +   
Hyper-Beta-Alaninemia 
Hyperglycinemia, Lactic Acidosis, and Seizures  
Hyperleucine-Isoleucinemia 
hypermethioninemia due to adenosine kinase deficiency  
Hyperphosphatemia, Polyuria, and Seizures 
hyperphosphatemic familial tumoral calcinosis +   
Hypomagnesemia, Seizures, and Mental Retardation +   
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity  
hypoparathyroidism-retardation-dysmorphism syndrome  
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 
Hypotonia, Seizures, and Precocious Puberty 
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
Infratentorial Neoplasms +   
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES  
Joubert syndrome 7  
Keutel Syndrome  
Koone Rizzo Elias Syndrome 
Labrune Syndrome  
Leukoencephalopathy with Ataxia  
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation  
Leukoencephalopathy with Dystonia and Motor Neuropathy  
Leukoencephalopathy with Metaphyseal Chondrodysplasia 
leukoencephalopathy with vanishing white matter  
LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE  
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
Medial Coronary Sclerosis of Infancy 
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 
Methionine Malabsorption Syndrome 
Methylenetetrahydrofolate Reductase Deficiency  
MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT 
Microcephaly Seizures Genital Hypoplasia 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
microcephaly, seizures, and developmental delay  
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES  
Mitochondrial Myopathy, and Ataxia  
Muller Barth Menger Syndrome 
multiple congenital anomalies-hypotonia-seizures syndrome +   
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 
Myokymia 1  
nephrocalcinosis +   
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification 
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY 
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH  
normophosphatemic familial tumoral calcinosis  
Occipital Cortical Malformations  
Oculocerebrocutaneous Syndrome 
Optic Atrophy 10 with or without Ataxia, Mental Retardation, and Seizures  
Opticocochleodentate Degeneration 
Ossified Ear Cartilages 
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 
Partington syndrome  
Pascual Castroviejo Syndrome 
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 
Perniola Krajewska Carnevale Syndrome 
PHARC syndrome  
PHGDH deficiency  
Piepkorn Karp Hickok syndrome 
Pinealoma +   
Posterior Column Ataxia with Retinitis Pigmentosa  
Posterior Leukoencephalopathy Syndrome  
Powell Venencie Gordon syndrome 
Primary Aldosteronism, Seizures, and Neurologic Abnormalities  
Primrose Syndrome  
Progressive Encephalopathy, Early-Onset, with Brain Edema and/or Leukoencephalopathy +   
Progressive Leukoencephalopathy, with Ovarian Failure  
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
progressive multifocal leukoencephalopathy 
PSAT deficiency  
Pseudo-TORCH Syndrome +   
pulmonary alveolar microlithiasis  
Qazi Markouizos syndrome 
Rajab Syndrome  
Rambaud Galian Syndrome 
Reardon Wilson Cavanagh Syndrome 
Renal Hypophosphatemia with Intracerebral Calcifications 
Ribose 5-Phosphate Isomerase Deficiency  
Richards-Rundle Syndrome 
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal  
Schofer Beetz Bohl Syndrome 
Sclerosing Osteomalacia with Cerebral Calcification 
Seemanova Lesny Syndrome 
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME  
Sensory Ataxia, Autosomal Dominant  
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration 
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES  
Smith-Kingsmore Syndrome  
spastic ataxia +   
spastic ataxia 3  
Spastic Ataxia with Congenital Miosis 
Spastic Paraplegia, Ataxia, and Mental Retardation 
Spinocerebellar Ataxias +   
spondyloepimetaphyseal dysplasia, Genevieve-type  
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness 
Storm Syndrome 
Supratentorial Neoplasms +   
syndromic X-linked intellectual disability 5  
syndromic X-linked intellectual disability Turner type  
Tapetoretinal Degeneration with Ataxia 
Telencephalic Leukoencephalopathy 
Tranebjaerg Svejgaard syndrome 
Treft Sanborn Carey Syndrome 
Tremor of Intention, Ataxia, and Lipofuscinosis 
Tropical Calcific Pancreatitis  
Tryptophanuria with Dwarfism 
Turcot Syndrome  
Vascular Calcification +   
vascular dementia +   
Wells Jankovic Syndrome 
White-Sutton syndrome  
Whyte Murphy Fallon Sly syndrome 
X-linked intellectual disability-psychosis-macroorchidism syndrome  
X-Linked Mental Retardation Gustavson Type 

Synonyms
Exact Synonyms: CRMCC ;   Coats Plus Syndrome
Primary IDs: MESH:C567401
Alternate IDs: RDO:0015479
Xrefs: OMIM:PS612199

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