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Ontology Browser

Term:
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (DOID:9002027)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Edema +     
Hydrops Fetalis +     
lactic acidosis +     
African iron overload 
autosomal dominant sideroblastic anemia 4  
autosomal recessive pyridoxine-refractory sideroblastic anemia 2  
autosomal recessive pyridoxine-refractory sideroblastic anemia 3  
Autosomal Sideroblastic Anemia  
brain edema +   
Cardiac Edema  
Combined Oxidative Phosphorylation Deficiency 2  
Combined Oxidative Phosphorylation Deficiency 3  
Congenital Infantile Lactic Acidosis +   
Congenital Infantile Lactic Acidosis due to LAD Deficiency  
Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema  
Edema, Familial Idiopathic, Prepubertal 
Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency 
Finnish Lethal Neonatal Metabolic Syndrome  
Greenberg Dysplasia  
Hydrops Fetalis +   
Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect  
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA  
Hyperglycinemia, Lactic Acidosis, and Seizures  
Hypochromic Microcytic Anemia with Iron Overload 1  
Ketoadipicaciduria 
Lactic Acidosis, Chronic Adult Form 
Landy Donnai Syndrome 
Maple Syrup Urine Disease, E3 Deficient, with Lactic Acidosis 
mitochondrial DNA depletion syndrome 9  
Mitochondrial Myopathy with Lactic Acidosis  
mitochondrial pyruvate carrier deficiency  
Myopathy with Lactic Acidosis, Hereditary  
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
Nuchal Bleb, Familial 
pyridoxine-responsive sideroblastic anemia 
Pyruvate Dehydrogenase E1 Alpha Deficiency  
Pyruvate Dehydrogenase E2 Deficiency  
Pyruvate Dehydrogenase E3-Binding Protein Deficiency  
Pyruvate Dehydrogenase Phosphatase Deficiency  
sideroblastic anemia 1  
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Tricarboxylic Acid Cycle, Defect of 
X-linked sideroblastic anemia with ataxia  

Synonyms
Exact Synonyms: HLASA
Primary IDs: OMIM:617021 ;   RDO:9001228

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