{"Name":"Radial hemimelia","DiseaseID__c":"GARD:0000225","id":225,"encodedName":"radial-hemimelia","IsDeleted":false,"Disease_Name_Full__c":"Radial hemimelia","Xref_IDs__c":"48008009; C0265581; MEDGEN:539344; MONDO:0019671; ORPHA:93321; Q71.4","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","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":3,"Description_Source__c":"MONDO:0019671","Disease_Description__c":"A rare congenital limb malformation characterized by partial or total absence of the radius.","GARD_Name__c":"Radial hemimelia","GARD_Synonym__c":"congenital longitudinal deficiency of the radius; longitudinal deficiency of radius; longitudinal reduction defect of radius; radial clubhand; radial longitidinal meromelia; radial ray agenesis","Curated_Disease_Description_Source__c":"MONDO:0019671","Curated_Disease_Description__c":"A rare congenital limb malformation characterized by partial or total absence of the radius.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:93321","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019671","ORPHANET_ID__c":"ORPHA:93321","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hemimelia radial aislada","Spanish_Description_Source__c":"ORPHA:93321","Spanish_Description__c":"Es una malformación congénita poco frecuente de las extremidades caracterizada por ausencia parcial o total del radio.","Spanish_Disease_Name__c":"hemimelia radial aislada","Spanish_GARD_Synonym__c":"agenesia aislada del rayo radial; deficiencia longitudinal congénita aislada del radio; mano zamba radial aislada; meromelia longitudinal radial aislada","Category_Linearization__c":"ORPHA:93890","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 congenital limb malformation characterized by partial or total absence of the radius.","Curated_Disease_Description_Source__c":"MONDO:0019671","GARD_Synonym__c":"congenital longitudinal deficiency of the radius; longitudinal deficiency of radius; longitudinal reduction defect of radius; radial clubhand; radial longitidinal meromelia; radial ray agenesis","Name":"Radial hemimelia","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"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":"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":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:93321"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:93321"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:93321"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000225","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=539344","Source__c":"C0265581","Xref__c":"MEDGEN:539344"},{"URL__c":"https://www.orpha.net/en/disease/detail/93321","Source__c":"C0265581; MONDO:0019671","Xref__c":"ORPHA:93321"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=48008009","Source__c":"MONDO:0019671","Xref__c":"48008009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265581","Source__c":"C0265581","Xref__c":"C0265581"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019671","Source__c":"GARD:0000225","Xref__c":"MONDO:0019671"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=61900003","Source__c":"C0265581","Xref__c":"61900003"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q71.4","Source__c":"MONDO:0019671","Xref__c":"Q71.4"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SHH","GHR_URL__c":"https://medlineplus.gov/genetics/gene/shh","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"LMBR1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive","Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:93321","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A small/hypoplastic or absent/aplastic radius.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006501","HPO_Synonym__c":"Absence or underdevelopment of the radius bone of the arm; Absent/small radius; Absent/underdeveloped radius; Radial aplasia/hypoplasia","HPO_Name__c":"Aplasia/Hypoplasia of the radius","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93321","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Displacement of the hand or of fingers of the hand from their normal position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009484","HPO_Synonym__c":"Displaced hand or fingers of the hand","HPO_Name__c":"Deviation of the hand or of fingers of the hand","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93321","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal structure of the first digit of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001172","HPO_Synonym__c":"Abnormality of the thumb; Abnormality of the thumbs; Thumb deformity","HPO_Name__c":"Abnormal thumb morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93321","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the scaphoid. The scaphoid is the largest bone of the proximal row of carpal bones. It is located on the same side as the thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004243","HPO_Synonym__c":"Abnormality of the scaphoid","HPO_Name__c":"Abnormal scaphoid morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93321","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absent first metacarpal (long bone) of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010035","HPO_Synonym__c":"Absent 1st long bone of hand; Absent first metacarpal","HPO_Name__c":"Aplasia of the 1st metacarpal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93321","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the trapezium, which is the carpal bone located at the base of the thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004252","HPO_Name__c":"Abnormal trapezium morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["congenital longitudinal deficiency of the radius"," longitudinal deficiency of radius"," longitudinal reduction defect of radius"," radial clubhand"," radial longitidinal meromelia"," radial ray agenesis"]}