{"Name":"Humerus trochlea aplasia","DiseaseID__c":"GARD:0002750","id":2750,"encodedName":"humerus-trochlea-aplasia","IsDeleted":false,"Disease_Name_Full__c":"Humerus trochlea aplasia","Xref_IDs__c":"732928005; C1860773; C566022; MEDGEN:348185; MONDO:0008611; OMIM:191000; ORPHA:3383","USA_Estimate__c":"1,000","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":"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:0008611","Disease_Description__c":"An extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.","GARD_Name__c":"Humerus trochlea aplasia","GARD_Synonym__c":"aplasia of trochlea of humerus","Curated_Disease_Description_Source__c":"MONDO:0008611","Curated_Disease_Description__c":"An extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:3383","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008611","ORPHANET_ID__c":"ORPHA:3383","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Aplasia de la tróclea del húmero","Spanish_Description_Source__c":"ORPHA:3383","Spanish_Description__c":"Es una deformidad ósea familiar extremadamente poco frecuente, descrita sólo en pacientes japoneses hasta la fecha. La deformidad es bilateral en casi la mitad de los pacientes (con afectación bilateral, la enfermedad es simétrica) y a veces causa parálisis del nervio cubital o cúbito varo.","Spanish_Disease_Name__c":"aplasia de la tróclea del húmero","Spanish_GARD_Synonym__c":null,"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":"An extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.","Curated_Disease_Description_Source__c":"MONDO:0008611","GARD_Synonym__c":"aplasia of trochlea of humerus","Name":"Humerus trochlea aplasia","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":"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":"Neonatal","Provided_By__c":"ORPHA:3383"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1860773","Source__c":"C1860773","Xref__c":"C1860773"},{"URL__c":"https://www.orpha.net/en/disease/detail/3383","Source__c":"C1860773; MONDO:0008611; ORPHA:3383","Xref__c":"ORPHA:3383"},{"URL__c":"https://www.omim.org/entry/191000","Source__c":"C1860773; MONDO:0008611; ORPHA:3383","Xref__c":"OMIM:191000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=348185","Source__c":"C1860773","Xref__c":"MEDGEN:348185"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=732928005","Source__c":"C1860773; MONDO:0008611","Xref__c":"732928005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566022","Source__c":"MONDO:0008611","Xref__c":"C566022"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008611","Source__c":"GARD:0002750","Xref__c":"MONDO:0008611"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:191000","Feature__r":{"HPO_Description__c":"Underdevelopment of the humerus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005792","HPO_Synonym__c":"Humeral hypoplasia; Humeral shortening; Hypoplastic humerus; Short humeri; Short humerus; Short long bone of upper arm; Short upper arms","HPO_Name__c":"Short humerus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:191000","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["aplasia of trochlea of humerus"]}