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Ontology Browser

Term:
Hyperglycinemia, Lactic Acidosis, and Seizures (DOID:9000776)
Annotations: Rat: (3) Mouse: (3) Human: (3) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3) Pig: (3)
Parent Terms Term With Siblings Child Terms
Adams Nance Syndrome 
Alcohol Withdrawal Seizures  
Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 
Arthrogryposis, Mental Retardation, and Seizures  
autosomal dominant non-syndromic intellectual disability 6  
Baraitser Rodeck Garner syndrome 
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
childhood onset epileptic encephalopathy +   
chromosome 15q13.3 microdeletion syndrome  
Combined Oxidative Phosphorylation Deficiency 2  
Combined Oxidative Phosphorylation Deficiency 3  
Combined Oxidative Phosphorylation Deficiency 6  
Combined Oxidative Phosphorylation Deficiency 7  
Congenital Infantile Lactic Acidosis +   
Copper Deficiency, Familial Benign 
Craniosynostosis 2  
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
developmental delay and seizures with or without movement abnormalities  
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Dysmyelination with Jaundice 
EAST syndrome  
Experimental Seizures  
Familial Convulsive Disorder with Prenatal or Early Onset 
Familial Infantile Convulsions and Paroxysmal Choreoathetosis  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency +   
Finnish Lethal Neonatal Metabolic Syndrome  
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE  
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA  
Hyper-Beta-Alaninemia 
Hyperglycinemia, Lactic Acidosis, and Seizures  
Hyperglycinemia, Transient Neonatal 
Hyperleucine-Isoleucinemia 
hypermethioninemia due to adenosine kinase deficiency  
Hyperphosphatemia, Polyuria, and Seizures 
Hypomagnesemia, Seizures, and Mental Retardation +   
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypotonia, Seizures, and Precocious Puberty 
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES  
Lactic Acidosis, Chronic Adult Form 
Leigh disease +   
Maple Syrup Urine Disease, E3 Deficient, with Lactic Acidosis 
MELAS syndrome +   
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 
MERRF Syndrome +   
Methionine Malabsorption Syndrome 
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 complex V (ATP synthase) deficiency nuclear type 2  
mitochondrial DNA depletion syndrome 13  
mitochondrial DNA depletion syndrome 14  
mitochondrial DNA depletion syndrome 4A +   
mitochondrial DNA depletion syndrome 5  
mitochondrial DNA depletion syndrome 8A  
mitochondrial DNA depletion syndrome 9  
Mitochondrial Encephalopathy  
Mitochondrial Myopathy with Lactic Acidosis  
mitochondrial pyruvate carrier deficiency  
Muller Barth Menger Syndrome 
multiple congenital anomalies-hypotonia-seizures syndrome +   
multiple mitochondrial dysfunctions syndrome 2  
Myopathy with Lactic Acidosis, Hereditary  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE  
Non Ketotic Hyperglycinemia Syndrome 
Occipital Cortical Malformations  
Optic Atrophy 10 with or without Ataxia, Mental Retardation, and Seizures  
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 
Partington syndrome  
Perniola Krajewska Carnevale Syndrome 
PHGDH deficiency  
Primary Aldosteronism, Seizures, and Neurologic Abnormalities  
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
PSAT deficiency  
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Pyruvate Dehydrogenase E1 Alpha Deficiency  
Pyruvate Dehydrogenase E2 Deficiency  
Pyruvate Dehydrogenase E3-Binding Protein Deficiency  
Pyruvate Dehydrogenase Phosphatase Deficiency  
pyruvate kinase deficiency of red cells  
Qazi Markouizos syndrome 
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal  
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME  
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES  
Smith-Kingsmore Syndrome  
syndromic X-linked intellectual disability 5  
Tranebjaerg Svejgaard syndrome 
Tricarboxylic Acid Cycle, Defect of 
White-Sutton syndrome  
X-Linked Mental Retardation Gustavson Type 

Synonyms
Exact Synonyms: HGCLAS ;   PDHLD ;   PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY
Primary IDs: OMIM:614462
Alternate IDs: RDO:9000662

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