{"Name":"Autosomal recessive amelia","DiseaseID__c":"GARD:0016554","id":16554,"encodedName":"autosomal-recessive-amelia","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive amelia","Xref_IDs__c":"726735000; C1832432; C563338; MEDGEN:321955; MONDO:0011054; OMIM:601360","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0011054","Disease_Description__c":"A rare disorder characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents.","GARD_Name__c":"Autosomal recessive amelia","GARD_Synonym__c":"amelia, posterior, with pelvic and pulmonary hypoplasia syndrome","Curated_Disease_Description_Source__c":"ORPHA:1027","Curated_Disease_Description__c":"A rare disorder characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:1027","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011054","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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 disorder characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported.","Curated_Disease_Description_Source__c":"ORPHA:1027","GARD_Synonym__c":"amelia, posterior, with pelvic and pulmonary hypoplasia syndrome","Name":"Autosomal recessive amelia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=321955","Source__c":"C1832432","Xref__c":"MEDGEN:321955"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832432","Source__c":"C1832432","Xref__c":"C1832432"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=726735000","Source__c":"C1832432; MONDO:0011054","Xref__c":"726735000"},{"URL__c":"https://www.omim.org/entry/601360","Source__c":"C1832432; MONDO:0011054","Xref__c":"OMIM:601360"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563338","Source__c":"MONDO:0011054","Xref__c":"C563338"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011054","Source__c":"GARD:0016554","Xref__c":"MONDO:0011054"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TBX4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:601360","Feature__r":{"HPO_Description__c":"Congenital absence (aplasia) of one or more limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009827","HPO_Name__c":"Amelia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["amelia, posterior, with pelvic and pulmonary hypoplasia syndrome"]}