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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 1  
Edema, Familial Idiopathic, Prepubertal 
Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency 
GRACILE syndrome  
Greenberg dysplasia  
Hydrops Fetalis +   
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 
Lymphatic Malformation 7  
Lymphatic Malformation 8 
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.