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Term:
PHGDH deficiency (DOID:0050722)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2)
Parent Terms Term With Siblings Child Terms
microcephaly +     
serine deficiency +     
visual epilepsy +     
3p- syndrome 
Absent Eyebrows and Eyelashes with Mental Retardation 
achalasia microcephaly syndrome 
Adams Nance Syndrome 
Agammaglobulinemia, Microcephaly, and Severe Dermatitis 
AL-RAQAD SYNDROME  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
ALAZAMI-YUAN SYNDROME  
Alcohol Withdrawal Seizures  
Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 
Amish Lethal Microcephaly  
Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation 
Aphalangia Syndactyly Microcephaly 
apraxia +   
Arthrogryposis, Mental Retardation, and Seizures  
Asparagine Synthetase Deficiency  
Ataxia-Microcephaly-Cataract Syndrome 
Au-Kline Syndrome  
autosomal dominant microcephaly +   
autosomal dominant non-syndromic intellectual disability 6  
Baetz-Greenwalt syndrome 
Bainbridge-Ropers Syndrome  
Baraitser Brett Piesowicz Syndrome 
Baraitser Rodeck Garner syndrome 
Basel-Vanagaite-Smirin-Yosef syndrome  
Battaglia Neri Syndrome 
Beaulieu-Boycott-Innes Syndrome  
Boudhina Yedes Khiari syndrome 
Bowen-Conradi syndrome  
Brachydactyly, Type A2, With Microcephaly 
Branchial Arch Syndrome X-Linked 
Bullous Dystrophy, Hereditary Macular Type 
CAMFAK Syndrome 
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies  
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation  
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
childhood onset epileptic encephalopathy  
childhood onset GLUT1 deficiency syndrome 2  
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 
CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION  
Christianson syndrome  
Chromosomal Instability with Tissue-Specific Radiosensitivity 
chromosome 15q13.3 microdeletion syndrome  
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 disorder of glycosylation +   
Congenital Lactase Deficiency  
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
Copper Deficiency, Familial Benign 
Craniosynostosis 2  
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
D-Glycericacidemia  
De Hauwere Leroy Adriaenssens syndrome 
developmental delay and seizures with or without movement abnormalities  
Developmental Delay, Epilepsy, and Neonatal Diabetes  
Diaminopentanuria 
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Dubowitz syndrome 
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Dysmyelination with Jaundice 
EAST syndrome  
Edinburgh Malformation Syndrome 
Ellis Yale Winter Syndrome 
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
Experimental Seizures  
Familial Convulsive Disorder with Prenatal or Early Onset 
Familial Infantile Convulsions and Paroxysmal Choreoathetosis  
Feingold syndrome +   
Filippi Syndrome  
Forsythe-Wakeling Syndrome 
Fructose and Galactose Intolerance 
Fructose Metabolism, Inborn Errors +   
fructose-1,6-bisphosphatase deficiency +   
fucosidosis  
Fumaric Aciduria  
galactosemia +   
Galloway-Mowat syndrome +   
Genitopatellar Syndrome  
Glucose-Galactose Malabsorption  
glucosephosphate dehydrogenase deficiency +   
GLUT1 Deficiency Syndrome  
glycerol kinase deficiency  
glycogen metabolism disorder +   
glycogen storage disease +   
glycoproteinosis +   
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  
HEART AND BRAIN MALFORMATION SYNDROME  
Hersh Podruch Weisskopk Syndrome 
Hoyeraal Hreidarsson Syndrome  
Hyper-Beta-Alaninemia 
Hyperglycinemia, Lactic Acidosis, and Seizures  
hyperinsulinemic hypoglycemia +   
Hyperleucine-Isoleucinemia 
hypermethioninemia due to adenosine kinase deficiency  
Hyperphosphatemia, Polyuria, and Seizures 
Hyperproglucagonemia 
hypertelorism, microtia, facial clefting syndrome 
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
Hypomagnesemia, Seizures, and Mental Retardation +   
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypospadias-Mental Retardation Syndrome 
Hypotonia, Seizures, and Precocious Puberty 
infantile cerebellar-retinal degeneration  
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  
intestinal disaccharidase deficiency 
Jorgenson Lenz Syndrome 
Kat6a Syndrome  
Kaufman Oculocerebrofacial Syndrome  
Keppen-Lubinsky Syndrome  
Kozlowski Rafinski Klicharska Syndrome 
Lactate Dehydrogenase Deficiency 
lactose intolerance +   
Lambotte Syndrome 
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 
MacDermot Winter Syndrome 
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION  
mandibulofacial dysostosis, Guion-Almeida type  
Mannosidase Deficiency Diseases +   
Marfanoid Habitus with Microcephaly and Glomerulonephritis 
Megarbane Syndrome 
MEHMO syndrome  
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Methionine Malabsorption Syndrome 
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 pyruvate carrier deficiency  
Mowat-Wilson syndrome  
mucopolysaccharidosis +   
Muller Barth Menger Syndrome 
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
multiple carboxylase deficiency +   
multiple congenital anomalies-hypotonia-seizures syndrome +   
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Myopathy with Storage of Glycoproteins and Glycosaminoglycans 
Neu-Laxova syndrome 1  
Neu-Laxova syndrome 2  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES  
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  
NGLY1-deficiency  
Nijmegen Breakage Syndrome-Like Disorder  
Occipital Cortical Malformations  
Oculopalatocerebral Syndrome 
Ogden syndrome  
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME  
Opitz Trigonocephaly Syndrome  
Optic Atrophy 10 with or without Ataxia, Mental Retardation, and Seizures  
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 
Paine Syndrome 
Partington Anderson Syndrome 
Partington syndrome  
Pentosuria  
Perniola Krajewska Carnevale Syndrome 
PHGDH deficiency  
A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis. (DO)
Phosphoenolpyruvate Carboxykinase Deficiency +   
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy  
Polysaccharide, Storage of Unusual 
porencephaly +   
Postnatal Progressive Microcephaly with Seizures and Brain Atrophy  
Primary Aldosteronism, Seizures, and Neurologic Abnormalities  
primary hyperoxaluria +   
primary microcephaly +   
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
PSAT deficiency  
pseudo-TORCH syndrome 1  
PSPH deficiency  
Psychomotor Agitation +   
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Pyruvate Metabolism, Inborn Errors +   
Qazi Markouizos syndrome 
Raine Syndrome  
Rajab Syndrome  
Ribose 5-Phosphate Isomerase Deficiency  
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal  
Sammartino De Crecchio Syndrome 
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  
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES  
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
Silengo Lerone Pelizza Syndrome 
Smith-Kingsmore 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  
Sucrase-Isomaltase Deficiency, Congenital  
syndromic X-linked intellectual disability 5  
syndromic X-linked intellectual disability Najm type  
syndromic X-linked intellectual disability Shrimpton type 
Teebi Kaurah Syndrome 
THAUVIN-ROBINET-FAIVRE SYNDROME  
Total Anonychia with Microcephaly 
Tranebjaerg Svejgaard syndrome 
Transaldolase Deficiency  
Trehalase Deficiency  
Trichodental Syndrome 
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
triosephosphate isomerase deficiency  
Tsukahara Syndrome 
Verheij Syndrome  
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome 
White-Sutton syndrome  
Winship Viljoen Leary Syndrome 
X-Linked Mental Retardation Gustavson Type 
Xylosidase Deficiency 
Zerres Rietschel Majewski Syndrome 
ZTTK Syndrome  

Synonyms
Exact Synonyms: PHGDHD ;   phosphoglycerate dehydrogenase deficiency
Primary IDs: MESH:C566618
Alternate IDs: OMIM:601815 ;   RDO:0014928
Definition Sources: http://en.wikipedia.org/wiki/Phosphoglycerate_dehydrogenase, http://www.ncbi.nlm.nih.gov/pubmed?term=18296366, http://www.omim.org/entry/601815

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