{"Name":"Amyotonia congenita","DiseaseID__c":"GARD:0005798","id":5798,"encodedName":"amyotonia-congenita","IsDeleted":false,"Disease_Name_Full__c":"Amyotonia congenita","Xref_IDs__c":"63135006; C0002735; MEDGEN:8042; MONDO:0056822; OMIM:205000","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":null,"Disease_Description__c":null,"GARD_Name__c":"Amyotonia congenita","GARD_Synonym__c":"benign congenital hypotonia; congenital atonic pseudoparalysis; oppenheim disease; oppenheim's amyotonia; oppenheim's disease","Curated_Disease_Description_Source__c":null,"Curated_Disease_Description__c":"This rare infant muscle disease is marked by very low muscle tone in muscles supplied by the spinal nerves. It is described as congenital atonic pseudoparalysis, which means that from birth the baby appears weak or unable to move some parts of the body, even though the nerves and muscles are present.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0056822","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":"This rare infant muscle disease is marked by very low muscle tone in muscles supplied by the spinal nerves. It is described as congenital atonic pseudoparalysis, which means that from birth the baby appears weak or unable to move some parts of the body, even though the nerves and muscles are present.","GARD_Synonym__c":"benign congenital hypotonia; congenital atonic pseudoparalysis; oppenheim disease; oppenheim's amyotonia; oppenheim's disease","Name":"Amyotonia congenita","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0002735","Source__c":"C0002735","Xref__c":"C0002735"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=8042","Source__c":"C0002735","Xref__c":"MEDGEN:8042"},{"URL__c":"https://www.omim.org/entry/205000","Source__c":"C0002735; MONDO:0056822","Xref__c":"OMIM:205000"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=63135006","Source__c":"C0002735","Xref__c":"63135006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0056822","Source__c":"GARD:0005798","Xref__c":"MONDO:0056822"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:205000","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["benign congenital hypotonia"," congenital atonic pseudoparalysis"," oppenheim disease"," oppenheim's amyotonia"," oppenheim's disease"]}