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

Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Ataxia +     
Muscle Spasticity +     
2-aminoadipic 2-oxoadipic aciduria  
2-hydroxyglutaric aciduria +   
2-Methylacetoacetyl CoA Thiolase Deficiency 
2-Methylbutyryl-CoA Dehydrogenase Deficiency  
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency  
3-Hydroxyisobutyric Aciduria 
3p deletion syndrome 
5-Oxoprolinase Deficiency  
Abetalipoproteinemia Neuropathy  
Adams Nance Syndrome 
adenine phosphoribosyltransferase deficiency  
adenylosuccinase lyase deficiency  
adult-onset ataxia and polyneuropathy  
Al-Raqad Syndrome  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Alazami-Yuan Syndrome  
Albinism +   
alkaptonuria +   
Alpha-Ketoglutarate Dehydrogenase Deficiency  
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
Aminoacylase 1 Deficiency  
apraxia +   
Arakawa Syndrome 2 
argininosuccinic aciduria  
aromatic L-amino acid decarboxylase deficiency  
Arts syndrome  
Asparagine Synthetase Deficiency  
Ataxia with Fasciculations 
Ataxia with Myoclonic Epilepsy and Presenile Dementia 
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 
Au-Kline Syndrome  
Bainbridge-Ropers Syndrome  
Bangstad Syndrome 
Basel-Vanagaite-Smirin-Yosef syndrome  
Behr syndrome  
Benign Childhood Paroxysmal Tonic Upgaze with Ataxia 
Beta-Aminoisobutyric Acid, Urinary Excretion of  
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency  
beta-ketothiolase deficiency  
BH4-deficient hyperphenylalaninemia A  
Bhaskar Jagannathan Syndrome 
Blue Diaper Syndrome 
Bowen-Conradi syndrome  
branched-chain keto acid dehydrogenase kinase deficiency  
Brunner syndrome  
C syndrome  
Camptodactyly Taurinuria 
CANOMAD Syndrome 
carboxypeptidase N deficiency  
Carnitine Acetyltransferase Deficiency  
Cataract Ataxia Deafness 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation  
cerebral creatine deficiency syndrome +   
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
Childhood-Onset Chorea with Psychomotor Retardation  
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline  
Childhood-Onset Spasticity with Hyperglycinemia  
Christianson syndrome  
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
COACH syndrome  
coenzyme Q10 deficiency disease +   
Congenital Cataracts, Hearing Loss, and Neurodegeneration  
cystathioninuria  
Cysteine Peptiduria 
cystinuria +   
De Hauwere Leroy Adriaenssens syndrome 
Deafness Hyperuricemia Neurologic Ataxia 
Developmental Delay, Epilepsy, and Neonatal Diabetes  
Diaminopentanuria 
Dibasic Amino Aciduria I 
dicarboxylic aminoaciduria  
Dimethylglycine Dehydrogenase Deficiency  
dystonia 9  
Edinburgh Malformation Syndrome 
Encephalopathy, Spastic Tetraparesis, and Hypogonadism 
Erythrokeratodermia with Ataxia 
familial isolated deficiency of vitamin E  
Fitzsimmons Walson Mellor Syndrome 
fumarase deficiency  
GABA aminotransferase deficiency  
Gait Ataxia +   
gamma-amino butyric acid metabolism disorder +   
gamma-glutamyl transpeptidase deficiency  
Genitopatellar Syndrome  
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
Glucoglycinuria  
Glutamate Monosodium Sensitivity 
glutamate-cysteine ligase deficiency  
Glutamine Deficiency, Congenital  
Glutaric Aciduria +   
glutathione synthetase deficiency  
glycine encephalopathy +   
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE  
Glycinuria with or without Oxalate Urolithiasis  
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Harel-Yoon Syndrome  
Hartnup disease  
HEART AND BRAIN MALFORMATION SYNDROME  
hereditary ataxia +   
histidine metabolism disease +   
histidinemia  
homocystinuria +   
Hydroxykynureninuria  
Hydroxyprolinemia 
hyperhomocysteinemia +   
Hyperleucine-Isoleucinemia 
hyperlysinemia +   
hypermethioninemia +   
hyperprolinemia +   
Hypertaurinuric Cardiomyopathy 
Hypertryptophanemia +   
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 
Ichthyosis, Split Hairs, and Amino Aciduria 
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
Indolylacroyl Glycinuria with Mental Retardation 
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
infantile cerebellar-retinal degeneration  
Infantile Hypotonia with Psychomotor Retardation +   
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS  
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN  
Isobutyryl-CoA Dehydrogenase Deficiency  
isolated sulfite oxidase deficiency  
isovaleric acidemia  
Joubert syndrome 7  
Keppen-Lubinsky Syndrome  
Ketoadipicaciduria 
Koone Rizzo Elias Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Leukoencephalopathy with Ataxia  
Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome  
Loucks-Innes Syndrome  
Lysine Malabsorption Syndrome 
lysinuric protein intolerance  
MacDermot Winter Syndrome 
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION  
Maleylacetoacetate Isomerase Deficiency  
maple syrup urine disease +   
Megarbane Syndrome 
Mercaptolactate-Cysteine Disulfiduria 
Methionine Malabsorption Syndrome 
Methylenetetrahydrofolate Reductase Deficiency  
Methylmalonate Semialdehyde Dehydrogenase Deficiency  
methylmalonic acidemia +   
Methylmalonyl-CoA Epimerase Deficiency +   
mitochondrial DNA depletion syndrome 5  
Mitochondrial Myopathy, and Ataxia  
mitochondrial pyruvate carrier deficiency  
multiple acyl-CoA dehydrogenase deficiency +   
multiple carboxylase deficiency +   
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Myokymia 1  
Myopathy due to Malate-Aspartate Shuttle Defect 
N-Acetylaspartate Deficiency  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY  
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH  
nuclear type mitochondrial complex I deficiency 20  
Ogden syndrome  
Okur-Chung Neurodevelopmental Syndrome  
optic atrophy 10  
Opticocochleodentate Degeneration 
organic acidemia +   
ornithine translocase deficiency  
Partial Aniridia with Unilateral Renal Agenesis and Psychomotor Retardation 
Partington syndrome  
pentosuria  
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 
PHARC syndrome  
phenylketonuria +   
PHGDH deficiency  
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy  
Posterior Column Ataxia with Retinitis Pigmentosa  
Powell Venencie Gordon syndrome 
progressive myoclonus epilepsy 1B  
prolidase deficiency  
propionic acidemia +   
PSAT deficiency  
PSPH deficiency  
Psychomotor Agitation +   
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
Reardon Wilson Cavanagh Syndrome 
Richards-Rundle Syndrome 
Sarcosinemia  
Seemanova Lesny Syndrome 
Sensory Ataxia, Autosomal Dominant  
sepiapterin reductase deficiency  
serine deficiency +   
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration 
spastic ataxia +   
Spastic Ataxia with Congenital Miosis 
Spastic Paraplegia, Ataxia, and Mental Retardation 
Spinocerebellar Ataxias +   
spondyloepimetaphyseal dysplasia, Genevieve-type  
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures  
succinic semialdehyde dehydrogenase deficiency  
syndromic X-linked intellectual disability Turner type  
systemic primary carnitine deficiency disease  
Tapetoretinal Degeneration with Ataxia 
THAUVIN-ROBINET-FAIVRE SYNDROME  
Tiglic Acidemia 
Treft Sanborn Carey Syndrome 
Tremor of Intention, Ataxia, and Lipofuscinosis 
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
Tryptophanuria with Dwarfism 
tyrosinemia +   
Tyrosinosis 
urea cycle disorder +   
Urocanase Deficiency  
Valinemia +   
Verheij Syndrome  
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2  
Webb-Dattani Syndrome  
Wells Jankovic Syndrome 
X-linked intellectual disability-psychosis-macroorchidism syndrome  
ZTTK Syndrome  

Synonyms
Exact Synonyms: Cystine-Lysinuria
Primary IDs: MESH:C565630
Alternate IDs: OMIM:222350

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.