{"Name":"Humeral agenesis/hypoplasia","DiseaseID__c":"GARD:0021192","id":21192,"encodedName":"humeral-agenesishypoplasia","IsDeleted":false,"Disease_Name_Full__c":"Humeral agenesis/hypoplasia","Xref_IDs__c":"C0685375; MEDGEN:672328; MONDO:0017440; ORPHA:294973","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":"MONDO:0017440","Disease_Description__c":"Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist.","GARD_Name__c":"Humeral agenesis/hypoplasia","GARD_Synonym__c":"congenital absence of humerus; congenital hypoplasia of humerus; congenital short humerus; humeral intercalary meromelia","Curated_Disease_Description_Source__c":"MONDO:0017440","Curated_Disease_Description__c":"Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:294973","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017440","ORPHANET_ID__c":"ORPHA:294973","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Agenesia/hipoplasia humeral aislada","Spanish_Description_Source__c":"ORPHA:294973","Spanish_Description__c":"La agenesia/hipoplasia humeral es un defecto no sindrómico de reducción de las extremidades, poco frecuente, que se caracteriza por la presencia uni- o bilateral de un brazo corto con húmero completamente ausente o poco desarrollado, asociado con frecuencia con malformaciones cubitales y/o radiales. Los afectados pueden presentar el antebrazo directamente unido al hombro, sin articulación en la unión con el hombro, sin extensión pasiva del brazo más allá de la línea media axilar, sin articulaciones del codo, con arqueamiento del radio, cúbito corto y/o desviación cubital/radial de las manos a la altura de las muñecas.","Spanish_Disease_Name__c":"agenesia/hipoplasia humeral aislada","Spanish_GARD_Synonym__c":"ausencia congénita aislada de húmero; deficiencia congénita aislada de húmero; hipoplasia congénita aislada de húmero; meromelia intercalar humeral 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":"Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist.","Curated_Disease_Description_Source__c":"MONDO:0017440","GARD_Synonym__c":"congenital absence of humerus; congenital hypoplasia of humerus; congenital short humerus; humeral intercalary meromelia","Name":"Humeral agenesis/hypoplasia","estimateUsa":""}],"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0685375","Source__c":"C0685375","Xref__c":"C0685375"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=672328","Source__c":"C0685375","Xref__c":"MEDGEN:672328"},{"URL__c":"https://www.orpha.net/en/disease/detail/294973","Source__c":"C0685375; MONDO:0017440","Xref__c":"ORPHA:294973"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017440","Source__c":"GARD:0021192","Xref__c":"MONDO:0017440"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=93264003","Source__c":"C0685375","Xref__c":"93264003"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics"],"Account":["Congenital limb malformation"]},"synonyms":["congenital absence of humerus"," congenital hypoplasia of humerus"," congenital short humerus"," humeral intercalary meromelia"]}