{"Name":"Necrotizing enterocolitis","DiseaseID__c":"GARD:0009767","id":9767,"encodedName":"necrotizing-enterocolitis","IsDeleted":false,"Disease_Name_Full__c":"Necrotizing enterocolitis","Xref_IDs__c":"2707005; C0520459; C84915; D020345; HP:0033165; K55.3; MEDGEN:105440; MONDO:0005313; ORPHA:391673","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0005313","Disease_Description__c":"Necrotizing enterocolitis (NEC) is a devastating disease that affects mostly the intestine of premature infants. The wall of the intestine is invaded by bacteria, which cause local infection and inflammation that can ultimately destroy the wall of the bowel (intestine). Such bowel wall destruction can lead to perforation of the intestine and spillage of stool into the infant's abdomen, which can result in an overwhelming infection and death.","GARD_Name__c":"Necrotizing enterocolitis","GARD_Synonym__c":"nec","Curated_Disease_Description_Source__c":"GARD:0009767","Curated_Disease_Description__c":"Necrotizing enterocolitis (NEC) is a condition characterized by variable injury or damage to the intestinal tract, causing death of intestinal tissue. The condition most often occurs in premature newborns, but it may also occur in term or near-term babies. Signs and symptoms may include abdominal distension, bloody stools, vomiting bile-stained fluid, and pneumatosis intestinalis (gas in the bowel wall) identified on abdominal x-ray. Affected infants occasionally have temperature instability, lethargy, or other findings of sepsis. The exact cause of NEC is unknown.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:391673","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0005313","ORPHANET_ID__c":"ORPHA:391673","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enterocolitis necrotizante","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enterocolitis necrotizante","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97935","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Necrotizing enterocolitis (NEC) is a condition characterized by variable injury or damage to the intestinal tract, causing death of intestinal tissue. The condition most often occurs in premature newborns, but it may also occur in term or near-term babies. Signs and symptoms may include abdominal distension, bloody stools, vomiting bile-stained fluid, and pneumatosis intestinalis (gas in the bowel wall) identified on abdominal x-ray. Affected infants occasionally have temperature instability, lethargy, or other findings of sepsis. The exact cause of NEC is unknown.","Curated_Disease_Description_Source__c":"GARD:0009767","GARD_Synonym__c":"nec","Name":"Necrotizing enterocolitis","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"NEC Society","Website__c":"https://necsociety.org/"},{"Account_Name__c":"AGA GI Patient Center","Website__c":"https://patient.gastro.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:391673"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=2707005","Source__c":"MONDO:0005313","Xref__c":"2707005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=105440","Source__c":"C0520459","Xref__c":"MEDGEN:105440"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C020345","Source__c":"C0520459; MONDO:0005313","Xref__c":"D020345"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84915","Source__c":"MONDO:0005313","Xref__c":"C84915"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0520459","Source__c":"C0520459","Xref__c":"C0520459"},{"URL__c":"https://www.orpha.net/en/disease/detail/391673","Source__c":"C0520459; MONDO:0005313; ORPHA:391673","Xref__c":"ORPHA:391673"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0033165","Source__c":"C0520459","Xref__c":"HP:0033165"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0005313","Source__c":"GARD:0009767","Xref__c":"MONDO:0005313"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/K55.3","Source__c":"MONDO:0005313","Xref__c":"K55.3"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005521","HPO_Name__c":"Disseminated intravascular coagulation","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Systemic inflammatory response to infection in newborn babies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040187","HPO_Name__c":"Neonatal sepsis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the number of leukocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001974","HPO_Synonym__c":"Elevated white blood count; High white blood count; Increased blood leukocyte number; Leukocytosis","HPO_Name__c":"Increased total leukocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012537","HPO_Synonym__c":"Food intolerance; Non-allergic food hypersensitivity","HPO_Name__c":"Food intolerance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduced desire to eat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004396","HPO_Synonym__c":"Decreased appetite; Loss of appetite; Poor appetite","HPO_Name__c":"Poor appetite","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031273","HPO_Name__c":"Shock","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001627","HPO_Synonym__c":"Abnormality of cardiac morphology; Abnormality of the heart; Abnormally shaped heart; Cardiac abnormality; Cardiac anomalies; Cardiac anomaly; Congenital heart defect; Congenital heart defects; Heart defect","HPO_Name__c":"Abnormal heart morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Passage of many stools containing blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025085","HPO_Synonym__c":"Bloody bowel movement; Bloody diarrhea","HPO_Name__c":"Bloody diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003074","HPO_Synonym__c":"High blood glucose; High blood sugar","HPO_Name__c":"Hyperglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A slower than normal heart rate (in adults, slower than 60 beats per minute).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001662","HPO_Synonym__c":"Brachycardia; Slow heartbeats","HPO_Name__c":"Bradycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001942","HPO_Name__c":"Metabolic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001518","HPO_Synonym__c":"Birth weight less than 10th percentile; Low birth weight; Small for gestational age","HPO_Name__c":"Small for gestational age","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001254","HPO_Synonym__c":"Dullness; Inaction; Inactivity; Languor; Lethargy; Slowness; Torpor","HPO_Name__c":"Lethargy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002104","HPO_Synonym__c":"Absence of spontaneous respiration; Apneic episodes; Apnoea","HPO_Name__c":"Apnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Involuntary tightening of the abdominal musculature that occurs in response to touching the abdomen to avoid pain. Rigidity can occur in the presence of abdominal inflammation and usually involves only the inflamed area.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032545","HPO_Synonym__c":"Rigid abdomen","HPO_Name__c":"Abdominal rigidity","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005968","HPO_Synonym__c":"Temperature instability","HPO_Name__c":"Temperature instability","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001541","HPO_Synonym__c":"Accumulation of fluid in the abdomen; Peritoneal effusion","HPO_Name__c":"Ascites","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001875","HPO_Synonym__c":"Low blood neutrophil count; Low neutrophil count; Neutropenia; Peripheral neutropenia","HPO_Name__c":"Decreased total neutrophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001543","HPO_Name__c":"Gastroschisis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality of glucose homeostasis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011014","HPO_Name__c":"Abnormal glucose homeostasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The birth of a baby of less than 37 weeks of gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001622","HPO_Synonym__c":"Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time","HPO_Name__c":"Premature birth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal acid accumulation or depletion of base.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001941","HPO_Name__c":"Acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Low Blood Pressure, vascular hypotension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002615","HPO_Synonym__c":"Arterial hypotension; Low blood pressure","HPO_Name__c":"Hypotension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distention of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003270","HPO_Synonym__c":"Abdominal bloating; Abdominal distension; Abdominal swelling; Belly bloating; Bloating; Distended abdomen","HPO_Name__c":"Abdominal distention","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally decreased sodium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002902","HPO_Synonym__c":"Low blood sodium levels","HPO_Name__c":"Hyponatremia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000969","HPO_Synonym__c":"Dropsy; Fluid retention; Hydrops; Oedema; Water retention","HPO_Name__c":"Edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000961","HPO_Synonym__c":"Blue discoloration of the skin","HPO_Name__c":"Cyanosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the number of circulating thrombocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001873","HPO_Synonym__c":"Low platelet count","HPO_Name__c":"Thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An decreased amount of bowel sounds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030144","HPO_Synonym__c":"Decreased bowel sounds","HPO_Name__c":"Hypoactive bowel sounds","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002151","HPO_Synonym__c":"Increased blood lactate; Increased serum lactate","HPO_Name__c":"Increased circulating lactate concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the peritoneum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002586","HPO_Synonym__c":"Inflammation of the peritoneum","HPO_Name__c":"Peritonitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Gastroenterology"],"Specialist":["Gastroenterology","Pediatrics"]},"synonyms":["nec"]}