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Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 2 (DOID:9000988)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
adrenal gland disease +   
alopecia, neurologic defects, and endocrinopathy syndrome  
alpha-methylacyl-CoA racemase deficiency  
annular pancreas  
autoimmune disease of endocrine system +   
autoimmune disease of the nervous system +   
autonomic nervous system disease +   
central nervous system disease +   
Chronobiology Disorders +   
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
congenital nervous system abnormality +   
cystic fibrosis +   
diabetes mellitus +   
diplegia of upper limb 
Dwarfism +   
Endocrine Bone Diseases +   
endocrine gland cancer +   
Endocrine Gland Neoplasms +   
endocrine pancreas disease +   
Endocrine Tuberculosis 
endocrine-cerebro-osteodysplasia syndrome  
Estrogen Resistance  
exocrine pancreatic insufficiency +   
Female Athlete Triad Syndrome 
Gerstmann syndrome 
gonadal disease +   
herpes zoster +   
Infantile Multisystem Neurologic Disease with Osseous Fragility 
Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1  
Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 2  
An autosomal recessive multisystemic disorder characterized by cholestatic hepatitis, poor feeding associated with poor overall growth, and hypoglycemia apparent from infancy. Caused by homozygous or compound heterozygous mutation in the YARS1 gene on chromosome 1p35. (OMIM)
intestinal pseudo-obstruction +   
liver disease +   
Macrosomia Adiposa Congenita 
Nerve Injuries +   
Nervous System Malformations +   
Nervous System Neoplasms +   
Nervous System Trauma +   
Neurocutaneous Syndromes +   
neurodegenerative disease +   
neurohypophyseal diabetes insipidus +   
Neurologic Manifestations +   
Norrie disease  
pancreas disease +   
pancreatic agenesis +   
Pancreatic Cyst +   
Pancreatic Fistula  
pancreatic hypoplasia-diabetes-congenital heart disease syndrome  
Pancreatic Lipase Deficiency  
Pancreatic Lipomatosis Duodenal Stenosis 
pancreatic mucinous ductal ectasia 
Pancreatic Neoplasms +   
pancreatic steatorrhea 
pancreatitis +   
parathyroid gland disease +   
peripheral nervous system disease +   
pituitary gland disease +   
Polyendocrine-Polyneuropathy Syndrome  
Polyglucosan Body Disease, Adult Form  
proprotein convertase 1/3 deficiency  
renal-hepatic-pancreatic dysplasia +   
Retinohepatoendocrinologic Syndrome 
Roy Maroteaux Kremp Syndrome 
sensory system disease +   
Tang Hsi Ryu Syndrome 
thymus gland disease +   
thyroid gland disease +   
toxic encephalopathy +   

Exact Synonyms: IMNEPD2
Primary IDs: OMIM:619418

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