{"Name":"Upper limb mesomelic dysplasia","DiseaseID__c":"GARD:0002408","id":2408,"encodedName":"upper-limb-mesomelic-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Upper limb mesomelic dysplasia","Xref_IDs__c":"C538069; C5574958; MEDGEN:1811806; MONDO:0008620; OMIM:191440; ORPHA:2497","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:0008620","Disease_Description__c":"A rare primary bone dysplasia characterized by isolated upper limb mesomelic dysplasia. Patients present with ulnar hypoplasia with severe radial bowing, but normal stature.","GARD_Name__c":"Upper limb mesomelic dysplasia","GARD_Synonym__c":"fryns-hofkens-fabry syndrome; mesomelic dysplasia of upper limb; ulna hypoplasia","Curated_Disease_Description_Source__c":"MONDO:0008620","Curated_Disease_Description__c":"A rare primary bone dysplasia characterized by isolated upper limb mesomelic dysplasia. Patients present with ulnar hypoplasia with severe radial bowing, but normal stature.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2497","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008620","ORPHANET_ID__c":"ORPHA:2497","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia mesomélica de las extremidades superiores tipo fryns","Spanish_Description_Source__c":"ORPHA:2497","Spanish_Description__c":"Es una displasia ósea primaria poco frecuente caracterizada por displasia mesomélica aislada de las extremidades superiores. Los pacientes presentan hipoplasia cubital con incurvación radial grave, pero talla normal.","Spanish_Disease_Name__c":"displasia mesomélica de las extremidades superiores tipo fryns","Spanish_GARD_Synonym__c":"síndrome de fryns-hofkens-fabry","Category_Linearization__c":"ORPHA:93419","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 primary bone dysplasia characterized by isolated upper limb mesomelic dysplasia. Patients present with ulnar hypoplasia with severe radial bowing, but normal stature.","Curated_Disease_Description_Source__c":"MONDO:0008620","GARD_Synonym__c":"fryns-hofkens-fabry syndrome; mesomelic dysplasia of upper limb; ulna hypoplasia","Name":"Upper limb mesomelic dysplasia","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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2497"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1811806","Source__c":"C5574958","Xref__c":"MEDGEN:1811806"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538069","Source__c":"MONDO:0008620","Xref__c":"C538069"},{"URL__c":"https://www.orpha.net/en/disease/detail/2497","Source__c":"C5574958; MONDO:0008620; ORPHA:2497","Xref__c":"ORPHA:2497"},{"URL__c":"https://www.omim.org/entry/191440","Source__c":"MONDO:0008620; ORPHA:2497","Xref__c":"OMIM:191440"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5574958","Source__c":"C5574958","Xref__c":"C5574958"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008620","Source__c":"GARD:0002408","Xref__c":"MONDO:0008620"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1010609002","Source__c":"C5574958","Xref__c":"1010609002"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2497","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009465","HPO_Synonym__c":"Finger bends toward pinky; Ulnar Drift","HPO_Name__c":"Ulnar deviation of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2497","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A bending or abnormal curvature of the radius.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002986","HPO_Synonym__c":"Bowed radii; Bowed radius; Bowing of outer large bone of the forearm; Bowing of radius bone of the forearm","HPO_Name__c":"Radial bowing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2497","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the ulna.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003022","HPO_Synonym__c":"Hypoplastic ulna; Short ulna; Short ulnae; Ulnar hypoplasia; Underdeveloped inner large forearm bone; Underdeveloped ulna","HPO_Name__c":"Hypoplasia of the ulna","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["fryns-hofkens-fabry syndrome"," mesomelic dysplasia of upper limb"," ulna hypoplasia"]}