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Ontology Browser
Term:
Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations (DOID:9003840)
Annotations: Rat: (122) Mouse: (124) Human: (127) Chinchilla: (116) Bonobo: (121) Dog: (120) Squirrel: (116) Pig: (119) Naked Mole-rat: (113) Green Monkey: (121)
Parent Terms Term With Siblings Child Terms
brain disease +     
Cardiovascular Abnormalities +     
liver disease +     
Aberrant Subclavian Artery 
Acute Febrile Encephalopathy 
akinetic mutism 
Alcoholic Liver Diseases +   
alpha 1-antitrypsin deficiency  
alveolar echinococcosis  
amblyopia +   
Athabaskan brainstem dysgenesis syndrome  
basal ganglia disease +   
baylisascariasis 
Beta-Ureidopropionase Deficiency  
Brain Abscess +   
brain compression  
Brain Death  
brain edema +   
Brain Hypoxia +   
Brain Injuries +   
Brain Neoplasms +   
Budd-Chiari syndrome +   
capillariasis 
Carnitine Palmitoyltransferase II Deficiency, Infantile  
Central Auditory Diseases +   
central nervous system origin vertigo 
CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS  
cerebellar disease +   
cerebral degeneration +   
cerebritis 
cerebrovascular disease +   
Chronic Brain Damage +   
clonorchiasis  
COACH syndrome +   
Colpocephaly 
complex cortical dysplasia with other brain malformations +   
Congenital Cerebral Granulomas 
congenital disorder of deglycosylation 2  
congenital heart disease +   
Crome Syndrome 
Cyanosis and Hepatic Disease 
cystic echinococcosis  
Dermatoleukodystrophy 
diabetic encephalopathy  
disease of mental health +   
encephalitis +   
encephalomalacia +   
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +   
ENCEPHALOPATHY, ACUTE TRANSIENT  
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 8  
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 10  
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9  
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3  
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY  
epilepsy +   
Focal Nodular Hyperplasia  
Glycogen Storage Disease 0, Liver  
glycogen storage disease IX +   
glycogen storage disease VI  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
GSD IV, Nonprogressive Hepatic 
Headache Disorders +   
hepatic encephalopathy +   
Hepatic Granuloma 
Hepatic Insufficiency +   
Hepatic Porphyrias +   
hepatic tuberculosis 
hepatic vascular disease +   
hepatitis +   
Hepatomegaly +   
hepatopulmonary syndrome  
hepatorenal syndrome  
heterophyiasis 
hippocampal atrophy  
hypoglycemic coma 
hypothalamic disease +   
immunoglobulin light chain amyloidosis  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES  
INTERSTITIAL LUNG AND LIVER DISEASE  
intracranial hypertension +   
intracranial hypotension 
intrahepatic cholestasis +   
Keratosis Follicularis, Dwarfism, and Cerebral Atrophy 
Kuzniecky Andermann Syndrome 
Leukoencephalopathies +   
Liver Abscess +   
liver cirrhosis +   
Liver Fibrocystic Disease and Polydactyly 
liver inflammatory pseudotumor 
Liver Injury +   
Liver Neoplasms +   
lymphocytic choriomeningitis  
Metabolic Brain Diseases +   
Mild Encephalitis/Encephalopathy with Reversible Myelin Vacuolization  
mitochondrial DNA depletion syndrome 6  
Mosaic Variegated Aneuploidy Syndrome 6  
movement disease +   
Myopathy, Epilepsy, and Progressive Cerebral Atrophy  
Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES  
neuroschistosomiasis 
Non-Lissencephalic Cortical Dysplasia 
opisthorchiasis  
paragonimiasis 
Parasitic Liver Diseases +   
phaeohyphomycosis +  
Phosphoenolpyruvate Carboxykinase Deficiency +   
Piepkorn Karp Hickok syndrome 
polycystic echinococcosis 
polycystic liver disease +   
prion disease +   
Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis  
Progressive Encephalopathy with Amyotrophy and Optic Atrophy  
Progressive Encephalopathy, with or without Lipodystrophy  
Pseudo-TORCH Syndrome +   
Pseudo-TORCH Syndrome 2  
pseudobulbar palsy +   
Rambaud Galian Syndrome 
Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations  
renal-hepatic-pancreatic dysplasia +   
Retinohepatoendocrinologic Syndrome 
Sener Syndrome 
senile degeneration of brain 
Sepsis-Associated Encephalopathy  
serum amyloid A amyloidosis 
Severe Congenital Liver Disease  
sparganosis 
Spastic Pseudosclerosis 
steatotic liver disease +   
Subdural Effusion 
tertiary neurosyphilis +   
thalamic disease +  
Thyrocerebral-Retinal Syndrome 
toxocariasis +   
transient global amnesia 
Trichohepatoneurodevelopmental Syndrome  
tyrosinemia type II  
Vascular Malformations +   
visceral leishmaniasis  
Wilson disease +   
Zellweger syndrome +   

Synonyms
Exact Synonyms: FADD deficiency ;   IMD90 ;   INFECTIONS, RECURRENT, ASSOCIATED WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS ;   immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction
Primary IDs: MIM:613759

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