{"Name":"Fingerprint body myopathy","DiseaseID__c":"GARD:0012720","id":12720,"encodedName":"fingerprint-body-myopathy","IsDeleted":false,"Disease_Name_Full__c":"Fingerprint body myopathy","Xref_IDs__c":"C1844560; C564425; MEDGEN:337026; MONDO:0010591; OMIM:305550; ORPHA:97232","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010591","Disease_Description__c":"Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission.","GARD_Name__c":"Fingerprint body myopathy","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0010591","Curated_Disease_Description__c":"Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:97232","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010591","ORPHANET_ID__c":"ORPHA:97232","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miopatía con inclusiones en huella dactilar","Spanish_Description_Source__c":"ORPHA:97232","Spanish_Description__c":"Es un trastorno muscular benigno congénito caracterizado por hipotonía y debilidad congénitas y por la presencia de numerosos cuerpos en \"huella dactilar\" localizados en la periferia de las fibras musculares. La prevalencia es desconocida y ha sido descrito menos de 20 pacientes. Se han observado pocos casos esporádicos, así como casos de transmisión recesiva.","Spanish_Disease_Name__c":"miopatía con inclusiones en huella dactilar","Spanish_GARD_Synonym__c":null,"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":"Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission.","Curated_Disease_Description_Source__c":"MONDO:0010591","Name":"Fingerprint body myopathy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:97232"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=337026","Source__c":"C1844560","Xref__c":"MEDGEN:337026"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564425","Source__c":"MONDO:0010591","Xref__c":"C564425"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1844560","Source__c":"C1844560","Xref__c":"C1844560"},{"URL__c":"https://www.omim.org/entry/305550","Source__c":"C1844560; MONDO:0010591; ORPHA:97232","Xref__c":"OMIM:305550"},{"URL__c":"https://www.orpha.net/en/disease/detail/97232","Source__c":"C1844560; MONDO:0010591; ORPHA:97232","Xref__c":"ORPHA:97232"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010591","Source__c":"GARD:0012720","Xref__c":"MONDO:0010591"}],"Inheritance__c":["X-linked"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:305550","Feature__r":{"HPO_Description__c":"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003198","HPO_Synonym__c":"Muscle tissue disease; Myopathic changes","HPO_Name__c":"Myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:305550","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001939","HPO_Synonym__c":"Laboratory abnormality; Metabolism abnormality","HPO_Name__c":"Abnormality of metabolism/homeostasis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"]},"synonyms":[""]}