{"Name":"Perinatal lethal hypophosphatasia","DiseaseID__c":"GARD:0017191","id":17191,"encodedName":"perinatal-lethal-hypophosphatasia","IsDeleted":false,"Disease_Name_Full__c":"Perinatal lethal hypophosphatasia","Xref_IDs__c":"423022770; C2673477; MEDGEN:392928; MONDO:0016605; ORPHA:247623","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016605","Disease_Description__c":"A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization <i>in utero</i> due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.","GARD_Name__c":"Perinatal lethal hypophosphatasia","GARD_Synonym__c":"hppn; perinatal lethal phosphoethanolaminuria; perinatal lethal rathbun disease; perinatal lethal rathburn disease","Curated_Disease_Description_Source__c":"MONDO:0016605","Curated_Disease_Description__c":"A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:247623","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016605","ORPHANET_ID__c":"ORPHA:247623","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipofosfatasia perinatal letal","Spanish_Description_Source__c":"ORPHA:247623","Spanish_Description__c":"Es una forma de hipofosfatasia (HPP) de origen genético y poco frecuente, caracterizada por una mineralización ósea <i>in utero</i> notablemente reducida debido a la disminución de la actividad de la fosfatasa alcalina (ALP) sérica, causando mortinatalidad o insuficiencia respiratoria a los pocos días del nacimiento.","Spanish_Disease_Name__c":"hipofosfatasia perinatal letal","Spanish_GARD_Synonym__c":"enfermedad de rathburn perinatal letal; fosfoetanolaminuria perinatal letal","Category_Linearization__c":"ORPHA:93419","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, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.","Curated_Disease_Description_Source__c":"MONDO:0016605","GARD_Synonym__c":"hppn; perinatal lethal phosphoethanolaminuria; perinatal lethal rathbun disease; perinatal lethal rathburn disease","Name":"Perinatal lethal hypophosphatasia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:247623"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:247623"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1150","Source__c":"Gene Review","Xref__c":"NBK1150"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2673477","Source__c":"C2673477","Xref__c":"C2673477"},{"URL__c":"https://www.orpha.net/en/disease/detail/247623","Source__c":"C2673477; MONDO:0016605; ORPHA:247623","Xref__c":"ORPHA:247623"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=392928","Source__c":"C2673477","Xref__c":"MEDGEN:392928"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016605","Source__c":"GARD:0017191","Xref__c":"MONDO:0016605"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022770","Xref__c":"423022770"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ALPL","GHR_URL__c":"https://medlineplus.gov/genetics/gene/alpl","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["hppn"," perinatal lethal phosphoethanolaminuria"," perinatal lethal rathbun disease"," perinatal lethal rathburn disease"]}