{"Name":"Neonatal asphyxia","DiseaseID__c":"GARD:0019875","id":19875,"encodedName":"neonatal-asphyxia","IsDeleted":false,"Disease_Name_Full__c":"Neonatal asphyxia","Xref_IDs__c":"28314004; C0004045; C116313; D001238; DOID:11088; HP:0012768; MEDGEN:2469; MONDO:0006663; ORPHA:137577","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0006663","Disease_Description__c":"A disorder caused by a lack of blood flow or gas exchange to or from the fetus in the period immediately before, during, or after the birth process.","GARD_Name__c":"Neonatal asphyxia","GARD_Synonym__c":"asphyxia - birth; asphyxia in liveborn infant; asphyxia neonatorum; asphyxia, in liveborn infant; birth asphyxia; birth depression; fetal asphyxia; foetal asphyxia; hie; hypoxia neonatorum; hypoxic and ischemic brain injury in the newborn; hypoxic-ischemic encephalopathy; intrapartum asphyxia; intrapartum fetal asphyxia; neonatal hypoxic and ischemic brain injury; perinatal asphyxia; perinatal depression; perinatal hypoxia; postnatal asphyxia","Curated_Disease_Description_Source__c":"MONDO:0006663","Curated_Disease_Description__c":"A rare neonatal encephalopathy characterized by alterations in mental status ranging from irritability and decreased responsiveness to coma, as well as abnormal primitive reflexes, hypotonia, seizures, and abnormalities in feeding and respiration, with an onset within the first hours of life. The condition is associated with high mortality. Long-term sequelae include a spectrum of signs and symptoms including behavioral deficits, developmental delay, learning disabilities, cognitive impairment, seizures, visual and auditory dysfunction, and cerebral palsy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:137577","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0006663","ORPHANET_ID__c":"ORPHA:137577","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Lesión hipóxico-isquémica cerebral neonatal","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"lesión hipóxico-isquémica cerebral neonatal","Spanish_GARD_Synonym__c":"ehi; encefalopatía hipóxico-isquémica; hipoxia perinatal","Category_Linearization__c":"ORPHA:98006","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":"A rare neonatal encephalopathy characterized by alterations in mental status ranging from irritability and decreased responsiveness to coma, as well as abnormal primitive reflexes, hypotonia, seizures, and abnormalities in feeding and respiration, with an onset within the first hours of life. The condition is associated with high mortality. Long-term sequelae include a spectrum of signs and symptoms including behavioral deficits, developmental delay, learning disabilities, cognitive impairment, seizures, visual and auditory dysfunction, and cerebral palsy.","Curated_Disease_Description_Source__c":"MONDO:0006663","GARD_Synonym__c":"asphyxia - birth; asphyxia in liveborn infant; asphyxia neonatorum; asphyxia, in liveborn infant; birth asphyxia; birth depression; fetal asphyxia; foetal asphyxia; hie; hypoxia neonatorum; hypoxic and ischemic brain injury in the newborn; hypoxic-ischemic encephalopathy; intrapartum asphyxia; intrapartum fetal asphyxia; neonatal hypoxic and ischemic brain injury; perinatal asphyxia; perinatal depression; perinatal hypoxia; postnatal asphyxia","Name":"Neonatal asphyxia","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Hope for HIE","Website__c":"https://www.hopeforhie.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:137577"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:137577"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A11088","Source__c":"MONDO:0006663","Xref__c":"DOID:11088"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=2469","Source__c":"C0004045","Xref__c":"MEDGEN:2469"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C001238","Source__c":"C0004045; MONDO:0006663","Xref__c":"D001238"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0004045","Source__c":"C0004045","Xref__c":"C0004045"},{"URL__c":"https://www.orpha.net/en/disease/detail/137577","Source__c":"C0004045; MONDO:0006663","Xref__c":"ORPHA:137577"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=28314004","Source__c":"C0004045; MONDO:0006663","Xref__c":"28314004"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C116313","Source__c":"MONDO:0006663","Xref__c":"C116313"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0012768","Source__c":"C0004045","Xref__c":"HP:0012768"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=413654009","Source__c":"C0004045","Xref__c":"413654009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0006663","Source__c":"GARD:0019875","Xref__c":"MONDO:0006663"},{"URL__c":"https://www.ninds.nih.gov/health-information/disorders/hypoxic-ischemic-encephalopathy"}],"tags":{"Disease Category":["Neurology"],"Specialist":["Neurology","Pediatrics"]},"synonyms":["asphyxia - birth"," asphyxia in liveborn infant"," asphyxia neonatorum"," asphyxia, in liveborn infant"," birth asphyxia"," birth depression"," fetal asphyxia"," foetal asphyxia"," hie"," hypoxia neonatorum"," hypoxic and ischemic brain injury in the newborn"," hypoxic-ischemic encephalopathy"," intrapartum asphyxia"," intrapartum fetal asphyxia"," neonatal hypoxic and ischemic brain injury"," perinatal asphyxia"," perinatal depression"," perinatal hypoxia"," postnatal asphyxia"]}