Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Glycosylphosphatidylinositol Deficiency (DOID:9006834)
Annotations: Rat: (16) Mouse: (16) Human: (18) Chinchilla: (16) Bonobo: (17) Dog: (16) Squirrel: (16) Pig: (16)
Parent Terms Term With Siblings Child Terms
epilepsy +     
2,4-Dienoyl-CoA Reductase Deficiency  
Acetyl-Coa Carboxylase Deficiency  
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency  
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 
alpha-methylacyl-CoA racemase deficiency  
Apolipoprotein A-I, Deficiency of +   
APOLIPOPROTEIN A-II DEFICIENCY  
Apolipoprotein E, Deficiency or Defect of +   
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
autosomal dominant mental retardation 20  
Autosomal Dominant Mental Retardation 60  
autosomal recessive spinocerebellar ataxia 12  
Baraitser-Winter syndrome +   
Barth syndrome +   
Battaglia Neri Syndrome 
benign neonatal seizures +   
Beta-Amino Acids, Renal Transport of 
Borjeson-Forssman-Lehmann syndrome  
Boudhina Yedes Khiari syndrome 
branched-chain keto acid dehydrogenase kinase deficiency  
carnitine palmitoyltransferase I deficiency  
carnitine palmitoyltransferase II deficiency +   
carnitine-acylcarnitine translocase deficiency  
Cerebellar Atrophy with Seizures and Variable Developmental Delay  
cerebrotendinous xanthomatosis  
Christianson syndrome  
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB 
chylomicron retention disease  
CK syndrome  
Coffin Syndrome 1 
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies  
Congenital Lp(A) Deficiency  
Cytosolic Acetoacetyl-CoA Thiolase Deficiency  
D-bifunctional protein deficiency  
Desmosterolosis  
Developmental Delay, Epilepsy, and Neonatal Diabetes  
Drug Resistant Epilepsy +   
Dyslipidemias +   
early-onset vitamin B6-dependent epilepsy  
electroclinical syndrome +   
Epilepsy Telangiectasia 
EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY  
Epilepsy, Hearing Loss, and Mental Retardation Syndrome  
Epilepsy, Occipital Calcifications 
Epilepsy, Post-Traumatic 
extratemporal epilepsy 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
familial combined hyperlipidemia +   
familial hyperlipidemia +   
Febrile Seizures +   
Focal Cortical Dysplasia of Taylor +   
focal epilepsy +   
Generalized Epilepsy +   
Glycosylphosphatidylinositol Deficiency +   
Gurrieri Sammito Bellussi Syndrome 
Hepatic Lipase Deficiency  
Hot Water Epilepsy +  
hyperlipoproteinemia type IV  
Hypertriglyceridemia, Transient Infantile  
hypolipoproteinemia +   
Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures  
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA  
Intellectual Developmental Disorder with Seizures and Language Delay  
Kifafa Seizure Disorder 
Kohlschutter-Tonz syndrome  
Landau-Kleffner syndrome  
lipid storage disease +   
lipodystrophy +   
lipoid proteinosis  
lipomatosis +   
Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency +   
medium chain acyl-CoA dehydrogenase deficiency  
MEHMO syndrome  
MEND syndrome  
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Microcephaly, Epilepsy, and Diabetes Syndrome  
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
multiple congenital anomalies-hypotonia-seizures syndrome +   
Myoclonic Epilepsies +   
Myopathy with Abnormal Lipid Metabolism  
Myopathy, Epilepsy, and Progressive Cerebral Atrophy  
NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM  
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination  
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES  
Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures  
Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements  
Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES  
neutral lipid storage disease +   
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES  
Pancreatic Lipase Deficiency  
peroxisomal acyl-CoA oxidase deficiency  
Peroxisomal Fatty Acyl-CoA Reductase 1 Disorder   
Phospholipase A2, Group IVA, Deficiency of  
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 
Pitt-Hopkins syndrome +   
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME  
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy  
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
pyridoxamine 5'-phosphate oxidase deficiency  
pyridoxine-dependent epilepsy  
Ramon Syndrome 
Refsum disease +   
Retinal Degeneration and Epilepsy 
Rud Syndrome 
salt and pepper syndrome  
Sandhaus Ben-Ami Syndrome 
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS  
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME  
short chain acyl-CoA dehydrogenase deficiency  
sitosterolemia +   
Smith-Lemli-Opitz syndrome +   
Spinocerebellar Ataxia with Epilepsy  
status epilepticus +   
steroid inherited metabolic disorder +   
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures  
syndromic X-linked intellectual disability Hedera type  
syndromic X-linked intellectual disability type 10  
Triglyceride Storage Disease, Type I 
Triglyceride Storage Disease, Type II 
very long chain acyl-CoA dehydrogenase deficiency  
visual epilepsy +   
Webb-Dattani Syndrome  
Wittwer Syndrome  
X-linked epilepsy with variable learning disabilities and behavior disorders  
xanthomatosis +   

Synonyms
Exact Synonyms: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 ;   GPIBD1 ;   GPID ;   PORTAL HYPERTENSION WITH SEIZURES AND/OR MACROCEPHALY GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY
Primary IDs: OMIM:610293
Alternate IDs: MESH:C537277 ;   RDO:0003090

paths to the root

NHLBI Logo

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