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

Ontology Browser

Term:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA (DOID:9009055)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency  
3-Hydroxyacyl-CoA Dehydrogenase Deficiency  
3-methylglutaconic aciduria +   
5-Nucleotidase Syndrome 
6-Phosphogluconolactonase Deficiency 
Acetylcarnitine Deficiency 
Acholinesterasemia 
Acid Phosphatase Deficiency  
agammaglobulinemia +   
Alpha-Fetoprotein Deficiency  
amino acid metabolic disorder +   
Amino Acid Transport Disorders, Inborn +   
Amobarbital, Deficient N-Hydroxylation of 
Angiotensin I-Converting Enzyme, Benign Serum Increase  
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema  
Anhidrotic Ectodermal Dysplasia with T-Cell Immunodeficiency, Autosomal Dominant  
Antibody Deficiency due to Defect in CD19 
Arene Oxide Detoxification Defect 
aromatase excess syndrome  
Aryl Hydrocarbon Hydroxylase Inducibility 
ataxia telangiectasia +   
Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated  
B cell deficiency +   
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
bilirubin metabolic disorder +   
Bisphosphoglycerate Mutase Deficiency  
Butyrylcholinesterase Deficiency  
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type  
C1q Deficiency  
C9 Deficiency with Dermatomyositis 
carbohydrate metabolic disorder +   
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO  
CARD11 Immunodeficiency  
Carnitine Acetyltransferase Deficiency  
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
Cd4+ Lymphocyte Deficiency  
CD8 Deficiency, Familial  
CHITOTRIOSIDASE DEFICIENCY  
Chromate Resistance 
Combined Exocrine Pancreatic Insufficiency 
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA  
An inborn error of folate metabolism due to deficiency of methylenetetrahydrofolate dehydrogenase-1. Manifestations may include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, lymphopenia involving all subsets, and low T-cell receptor excision circles. (OMIM)
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia  
Combined Inflammatory and Immunologic Defect 
combined oxidative phosphorylation deficiency 19  
combined oxidative phosphorylation deficiency 21  
combined oxidative phosphorylation deficiency 8  
combined T cell and B cell immunodeficiency +   
common variable immunodeficiency +   
complement component 9 deficiency  
complement deficiency +   
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
congenital leptin deficiency  
congenital secretory chloride diarrhea 1  
congenital secretory sodium diarrhea 3  
Copper Deficiency, Familial Benign 
Coumarin Resistance  
Coumarin Sensitivity  
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality 
cytochrome-c oxidase deficiency disease +   
Davenport Donlan Syndrome 
Deafness Hyperuricemia Neurologic Ataxia 
Deltaretrovirus Infections +   
Deoxyribose-5-Phosphate Aldolase Deficiency 
Dihydropyrimidinase Deficiency  
Diphenylhydantoin, Defect in Hydroxylation of 
dopamine beta-hydroxylase deficiency  
Efavirenz, Poor Metabolism of  
Endotoxin Hyporesponsiveness  
Enterokinase Deficiency  
Ethanolaminosis 
EVANS SYNDROME, IMMUNODEFICIENCY, AND PREMATURE IMMUNOSENESCENCE ASSOCIATED WITH TRIPEPTIDYL-PEPTIDASE II DEFICIENCY  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Familial Amyloidosis +   
familial cold autoinflammatory syndrome +   
Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency 
Fanconi-like syndrome  
FUCOSYLTRANSFERASE 6 DEFICIENCY  
Glucocorticoid Receptor Deficiency  
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 
Glutamate Formiminotransferase Deficiency  
glycerol kinase deficiency  
Glycoprotein Storage Disease 
Glyoxalase II Deficiency 
Griscelli syndrome +   
Growth Factors, Combined Defect of 
Hepatic Venoocclusive Disease with Immunodeficiency  
Hereditary Hyperbilirubinemia +   
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type  
human immunodeficiency virus infectious disease +   
Hyaluronan Metabolism, Defect in 
Hypercalcemia, Infantile, 1  
Hypercatabolic Hypoproteinemia  
Hypoadiponectinemia  
Hypoglobulinemia and Absent B Cells 
Hypokalemia, Familial 
IL21R Immunodeficiency  
Imerslund-Grasbeck Syndrome  
Immune Deficiency Disease  
Immune Deficiency, Familial Variable 
IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS  
Immunodeficiency 12  
Immunodeficiency 14  
IMMUNODEFICIENCY 15A  
Immunodeficiency 15B  
Immunodeficiency 16  
Immunodeficiency 19  
Immunodeficiency 20  
Immunodeficiency 21  
Immunodeficiency 22  
Immunodeficiency 23  
IMMUNODEFICIENCY 24  
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES  
Immunodeficiency 27B  
IMMUNODEFICIENCY 28  
IMMUNODEFICIENCY 29  
Immunodeficiency 30  
Immunodeficiency 31A  
IMMUNODEFICIENCY 31B  
Immunodeficiency 31C  
Immunodeficiency 32A  
Immunodeficiency 32B  
Immunodeficiency 36  
Immunodeficiency 37  
Immunodeficiency 38, with Basal Ganglia Calcification  
Immunodeficiency 39  
Immunodeficiency 40  
Immunodeficiency 42  
Immunodeficiency 44  
Immunodeficiency 45  
Immunodeficiency 46  
Immunodeficiency 47  
Immunodeficiency 48  
Immunodeficiency 49  
Immunodeficiency 50  
Immunodeficiency 51  
Immunodeficiency 52  
Immunodeficiency 53  
Immunodeficiency 55  
Immunodeficiency 57  
Immunodeficiency 58  
Immunodeficiency 60  
Immunodeficiency 62  
Immunodeficiency 63 with Lymphoproliferation and Autoimmunity  
Immunodeficiency 64  
Immunodeficiency 65  
Immunodeficiency due to Defect in CD3-Epsilon  
Immunodeficiency due to Defect in CD3-Gamma  
Immunodeficiency due to Defect in CD3-Zeta  
Immunodeficiency due to Defect in MAPBP-Interacting Protein  
Immunodeficiency due to Ficolin 3 Deficiency  
Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist 
Immunodeficiency without Anhidrotic Ectodermal Dysplasia  
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis 
immunodeficiency-centromeric instability-facial anomalies syndrome +   
immunoglobulin beta deficiency 
IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY  
Inosine Phosphorylase Deficiency, Immune Defect Due To 
Inosine Triphosphatase Deficiency  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Interleukin 2 Receptor, Alpha, Deficiency of  
Intrinsic Factor and R Binder, Combined Congenital Deficiency of 
Invasive Pneumococcal Disease, Recurrent Isolated, 1  
Invasive Pneumococcal Disease, Recurrent Isolated, 2  
IRAK4 Deficiency  
isolated elevated serum creatine phosphokinase levels  
isolated hyperchlorhidrosis  
Kallikrein, Decreased Urinary Activity of  
Kotzot-Richter Syndrome 
L-Gulonolactone Oxidase, Nonfunctional 
Lactate Dehydrogenase B Deficiency  
Lactic Aciduria due to D-Lactic Acid  
Leptin Receptor Deficiency  
LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE  
Leukotriene C4 Synthase Deficiency  
Lichtenstein Syndrome 
lipid metabolism disorder +   
Lubani Al Saleh Teebi Syndrome 
LUNG DAMAGE, IMMUNODEFICIENCY AND CHROMOSOME BREAKAGE SYNDROME  
Lymphoblastic Transformation, Intrinsic Defect in 
Lymphoid System Deterioration, Progressive 
Lymphokine Deficiency 
lymphopenia +   
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis 
lymphoproliferative syndrome +   
lysosomal storage disease +   
Malonic Aciduria  
Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type 
Mannose-Binding Protein Deficiency  
MASP2 Deficiency  
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 
Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency  
Metabolic Brain Diseases, Inborn +   
metal metabolism disorder +   
Methemoglobin Reductase Deficiency 
methylmalonic aciduria and homocystinuria type cblG  
Methylmalonyl-Coenzyme A Mutase Deficiency 
mitochondrial complex II deficiency  
mitochondrial metabolism disease +   
MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY  
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY  
MYD88 Deficiency  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Myeloperoxidase Deficiency  
N Acetyltransferase Deficiency +   
Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect  
NEMO Mutation with Immunodeficiency 
Neutrophil Immunodeficiency Syndrome  
Nezelof syndrome 
Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency  
Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency  
Partial Combined Immunodeficiency with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes 
pernicious anemia +   
peroxisomal disease +   
phagocyte bactericidal dysfunction +   
Phenacetin O-Deethylase, Deficiency of  
Phenol Sulfotransferase Deficiency 
Phosphoglycerate Kinase 1 Deficiency  
Phosphohydroxylysinuria  
plasma protein metabolism disease +   
Poor Drug Metabolism, CYP2C19-Related  
Poor Drug Metabolism, CYP2D6-Related  
porphyria +   
progeria +   
Proguanil, Poor Metabolism of  
Properdin Deficiency, X-Linked  
purine-pyrimidine metabolic disorder +   
pyrimidine metabolic disorder +   
renal tubular transport disease +   
Retinol-Binding Protein Deficiency 
Riddle syndrome  
Roifman Syndrome  
Roifman-Chitayat Syndrome 
Schimke immuno-osseous dysplasia  
SEDOHEPTULOKINASE DEFICIENCY  
sepiapterin reductase deficiency  
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Splenic Hypoplasia  
Squalene Synthase Deficiency  
steroid inherited metabolic disorder +   
Stomatocytosis I  
Stomatocytosis II  
Succinic Acidemia 
T cell deficiency +  
T Cell Immunodeficiency Primary  
T-Cell OKT4 Deficiency  
T-Cell Receptor-Alpha/Beta Deficiency  
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)  
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)  
thiamine-responsive megaloblastic anemia syndrome  
thiopurine S-methyltransferase deficiency +   
Thumb Agenesis, Short Stature, and Immunodeficiency 
Thyrotropin-Releasing Hormone Deficiency  
Transcobalamin I Deficiency  
trimethylaminuria  
Trypsinogen Deficiency  
Tuftsin Deficiency 
Uridine-Cytidineuria  
vitamin metabolic disorder +   
Warfarin Sensitivity  
Weinstein Kliman Scully Syndrome 
WHIM syndrome  
Wiedemann Oldigs Oppermann Syndrome 
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 

Synonyms
Exact Synonyms: CIMAH ;   METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1 DEFICIENCY
Primary IDs: OMIM:617780

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.