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Term:
Asparagine Synthetase Deficiency (DOID:9002524)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (0) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
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- syndrome 
5-Oxoprolinase Deficiency  
Absent Eyebrows and Eyelashes with Mental Retardation 
achalasia microcephaly syndrome 
Adams Nance Syndrome 
adenine phosphoribosyltransferase deficiency  
adenylosuccinase lyase deficiency  
adrenoleukodystrophy +   
Agammaglobulinemia, Microcephaly, and Severe Dermatitis 
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  
Amish Lethal Microcephaly  
Aphalangia Syndactyly Microcephaly 
apraxia +   
Arakawa Syndrome 2  
argininosuccinic aciduria  
aromatic L-amino acid decarboxylase deficiency  
Asparagine Synthetase Deficiency  
Ataxia-Microcephaly-Cataract Syndrome 
Au-Kline Syndrome  
autosomal dominant microcephaly +   
Baetz-Greenwalt syndrome 
Bainbridge-Ropers Syndrome  
Baraitser Brett Piesowicz Syndrome 
Basel-Vanagaite-Smirin-Yosef syndrome  
Battaglia Neri Syndrome 
Beaulieu-Boycott-Innes Syndrome  
Beta-Aminoisobutyric Acid, Urinary Excretion of  
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency  
beta-ketothiolase deficiency  
BH4-deficient hyperphenylalaninemia A  
Blue Diaper Syndrome 
Boudhina Yedes Khiari syndrome 
Bowen-Conradi syndrome  
Brachydactyly, Type A2, With Microcephaly 
branched-chain keto acid dehydrogenase kinase deficiency  
Branchial Arch Syndrome X-Linked 
Brunner syndrome  
Bullous Dystrophy, Hereditary Macular Type 
CAMFAK Syndrome 
Camptodactyly Taurinuria 
Carboxypeptidase N Deficiency  
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies  
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation  
cerebral creatine deficiency syndrome +   
CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION  
Christianson syndrome  
Chromosomal Instability with Tissue-Specific Radiosensitivity 
chromosome 15q26-qter deletion syndrome 
chromosome 17p13.1 deletion syndrome 
CK Syndrome  
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
Cohen Syndrome  
Congenital Cataracts, Hearing Loss, and Neurodegeneration  
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
creatine transporter deficiency  
CST3-related cerebral amyloid angiopathy +   
cystathioninuria  
Cysteine Peptiduria 
cystinuria +   
De Hauwere Leroy Adriaenssens syndrome 
Developmental Delay, Epilepsy, and Neonatal Diabetes  
Diaminopentanuria 
Dibasic Amino Aciduria I 
dicarboxylic aminoaciduria  
Dimethylglycine Dehydrogenase Deficiency  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Dubowitz syndrome 
Edinburgh Malformation Syndrome 
Ellis Yale Winter Syndrome 
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2  
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
Encephalopathy, Spastic Tetraparesis, and Hypogonadism 
Feingold syndrome +   
Filippi Syndrome  
Forsythe-Wakeling Syndrome 
fumarase deficiency  
GABA aminotransferase deficiency  
galactosemia +   
Galloway-Mowat syndrome +   
gamma-amino butyric acid metabolism disorder +   
gamma-glutamyl transpeptidase deficiency  
Genitopatellar Syndrome  
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
Glucoglycinuria 
Glutamate Monosodium Sensitivity 
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  
GOMBO Syndrome 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Hadziselimovic Syndrome 
Halal Syndrome 
HAREL-YOON SYNDROME  
Hartnup disease  
HEART AND BRAIN MALFORMATION SYNDROME  
Hereditary Central Nervous System Demyelinating Diseases +   
Hersh Podruch Weisskopk Syndrome 
histidine metabolism disease +   
histidinemia  
homocarnosinosis  
homocystinuria +   
Hoyeraal Hreidarsson Syndrome  
Hydroxykynureninuria  
Hydroxyprolinemia 
hyperhomocysteinemia +   
Hyperleucine-Isoleucinemia 
hyperlysinemia +   
hypermethioninemia +   
hyperprolinemia +   
Hypertaurinuric Cardiomyopathy 
hypertelorism, microtia, facial clefting syndrome 
Hypertryptophanemia 
Hypertryptophanemia, Familial  
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
Hypospadias-Mental Retardation Syndrome 
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 cerebral and cerebellar atrophy with postnatal progressive microcephaly  
Infantile Hypotonia with Psychomotor Retardation +   
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
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  
Jorgenson Lenz Syndrome 
Kat6a Syndrome  
Kaufman Oculocerebrofacial Syndrome  
Keppen-Lubinsky Syndrome  
Ketoadipicaciduria 
Kozlowski Rafinski Klicharska Syndrome 
Lambotte Syndrome 
Leigh disease +   
Lesch-Nyhan syndrome +   
Lethal Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 1  
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA  
Linear Skin Defects with Multiple Congenital Anomalies 2  
Lissencephaly 3 +   
Lissencephaly 4  
Lissencephaly 6, with Microcephaly  
Loucks-Innes Syndrome  
Lowry Wood Syndrome 
Lysine Malabsorption Syndrome 
lysinuric protein intolerance  
Lysosomal Storage Diseases, Nervous System +   
MacDermot Winter Syndrome 
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION  
MALEYLACETOACETATE ISOMERASE DEFICIENCY  
mandibulofacial dysostosis, Guion-Almeida type  
maple syrup urine disease +   
Marfanoid Habitus with Microcephaly and Glomerulonephritis 
Megarbane Syndrome 
MEHMO syndrome  
MELAS syndrome +   
Menkes disease +   
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mercaptolactate-Cysteine Disulfiduria 
MERRF Syndrome +   
Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression  
Methionine Malabsorption Syndrome 
Methylmalonate Semialdehyde Dehydrogenase Deficiency  
methylmalonic acidemia +   
Methylmalonyl-CoA Epimerase Deficiency +   
mevalonic aciduria  
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly Albinism Digital Anomalies Syndrome 
Microcephaly and Chorioretinopathy +   
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
Microcephaly Microphthalmos Blindness 
Microcephaly Nonsyndromal 
Microcephaly Pontocerebellar Hypoplasia Dyskinesia 
Microcephaly Seizures Genital Hypoplasia 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 
Microcephaly with Chorioretinopathy, Autosomal Dominant 
Microcephaly with Mental Retardation and Digital Anomalies  
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly with Simplified Gyral Pattern 
Microcephaly with Spastic Quadriplegia  
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS  
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
Microcephaly, Epilepsy, and Diabetes Syndrome  
MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME  
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Macrotia, and Mental Retardation 
Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism  
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 
microcephaly, seizures, and developmental delay  
Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects 
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM +   
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1   
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2  
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES  
Microcephaly-Capillary Malformation Syndrome  
Microcephaly-Micromelia Syndrome  
Microhydranencephaly  
Microphthalmia and Mental Deficiency 
Microphthalmia, Syndromic 13  
Milner Khallouf Gibson Syndrome 
Mirhosseini-Holmes-Walton Syndrome 
Mitochondrial Complex I Deficiency, Nuclear Type 20  
mitochondrial DNA depletion syndrome 5  
mitochondrial pyruvate carrier deficiency  
Mowat-Wilson syndrome  
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
multiple acyl-CoA dehydrogenase deficiency +   
multiple carboxylase deficiency +   
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Myopathy due to Malate-Aspartate Shuttle Defect 
N-Acetylaspartate Deficiency  
Neu-Laxova syndrome 1  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES  
Nijmegen Breakage Syndrome-Like Disorder  
oculocerebrorenal syndrome +   
Oculopalatocerebral Syndrome 
Ogden syndrome  
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME  
Opitz Trigonocephaly Syndrome  
organic acidemia +   
ornithine translocase deficiency  
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
Paine Syndrome 
Partial Aniridia with Unilateral Renal Agenesis and Psychomotor Retardation 
Partington Anderson Syndrome 
pentosuria  
phenylketonuria +   
PHGDH deficiency  
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy  
porencephaly +   
primary microcephaly +   
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
Prolidase Deficiency  
propionic acidemia +   
PSAT deficiency  
pseudo-TORCH syndrome 1  
PSPH deficiency  
Psychomotor Agitation +   
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Raine Syndrome  
Rajab Syndrome  
Refsum disease +   
Richards-Rundle Syndrome 
Sammartino De Crecchio Syndrome 
Sarcosinemia  
Say Barber Miller Syndrome 
Say Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Seckel syndrome 1  
Seckel syndrome 2  
Seckel Syndrome 3 
Seckel syndrome 4  
Secretory Diarrhea, Myopathy, and Deafness 
Seemanova Lesny Syndrome 
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME  
sepiapterin reductase deficiency  
serine deficiency +   
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
Silengo Lerone Pelizza Syndrome 
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY  
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 
spondyloepimetaphyseal dysplasia, Genevieve-type  
Stromme syndrome  
succinic semialdehyde dehydrogenase deficiency  
syndromic X-linked intellectual disability Najm type  
syndromic X-linked intellectual disability Shrimpton type 
systemic primary carnitine deficiency disease  
Teebi Kaurah Syndrome 
THAUVIN-ROBINET-FAIVRE SYNDROME  
Tiglic Acidemia 
Total Anonychia with Microcephaly 
Tricarboxylic Acid Cycle, Defect of 
Trichodental Syndrome 
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
Tryptophanuria with Dwarfism 
Tsukahara Syndrome 
tyrosinemia +   
Tyrosinosis 
urea cycle disorder +   
Urocanase Deficiency  
Valinemia 
Verheij Syndrome  
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2  
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome 
Wilson disease +   
Winship Viljoen Leary Syndrome 
Zellweger syndrome +   
Zerres Rietschel Majewski Syndrome 
ZTTK Syndrome  

Synonyms
Exact Synonyms: ASNS Deficiency ;   ASNSD
Primary IDs: OMIM:615574 ;   RDO:9001001

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