Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Ontology Browser
Term:
Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 2 (DOID:9000988)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (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 +   
BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME  
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 +   
LETM1-ASSOCIATED CLINICAL SPECTRUM WITH PREDOMINANT NERVOUS SYSTEM INVOLVEMENT  
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  
opisthorchiasis  
pancreas disease +   
pancreatic agenesis +   
Pancreatic Cyst +   
Pancreatic Fistula  
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 +   
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
Tang Hsi Ryu Syndrome 
thymus gland disease +   
thyroid gland disease +   
toxic encephalopathy +   

Synonyms
Exact Synonyms: IMNEPD2
Primary IDs: OMIM:619418

paths to the root