{"Name":"Bruck syndrome 2","DiseaseID__c":"GARD:0010023","id":10023,"encodedName":"bruck-syndrome-2","IsDeleted":false,"Disease_Name_Full__c":"Bruck syndrome 2","Xref_IDs__c":"C1836602; C537407; MEDGEN:373129; MONDO:0012217; OMIM:609220","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":3,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0012217","Disease_Description__c":"Any Bruck syndrome in which the cause of the disease is a mutation in the PLOD2 gene.","GARD_Name__c":"Bruck syndrome 2","GARD_Synonym__c":"brks2; bruck syndrome caused by mutation in plod2; bruck syndrome type 2; plod2 bruck syndrome","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Bruck syndrome 2 is a condition caused by a change in a gene called PLOD2. This gene provides instructions for making an enzyme called telopeptide lysyl hydroxylase, which is important for the formation of strong bones and joints. When this gene is changed, it can cause problems with bone and joint development, leading to joint stiffness and skeletal abnormalities.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:609220","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012217","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Bruck syndrome 2 is a condition caused by a change in a gene called PLOD2. This gene provides instructions for making an enzyme called telopeptide lysyl hydroxylase, which is important for the formation of strong bones and joints. When this gene is changed, it can cause problems with bone and joint development, leading to joint stiffness and skeletal abnormalities.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"brks2; bruck syndrome caused by mutation in plod2; bruck syndrome type 2; plod2 bruck syndrome","Name":"Bruck syndrome 2","estimateUsa":""}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1836602"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010023","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537407","Source__c":"MONDO:0012217","Xref__c":"C537407"},{"URL__c":"https://www.omim.org/entry/609220","Source__c":"C1836602; MONDO:0012217","Xref__c":"OMIM:609220"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=373129","Source__c":"C1836602","Xref__c":"MEDGEN:373129"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1836602","Source__c":"C1836602","Xref__c":"C1836602"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012217","Source__c":"GARD:0010023","Xref__c":"MONDO:0012217"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PLOD2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:609220","Feature__r":{"HPO_Description__c":"An increased concentration of 4-hydroxy-L-proline in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003080","HPO_Synonym__c":"Elevated urinary hydroxyproline","HPO_Name__c":"Hydroxyprolinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:609220","Feature__r":{"HPO_Description__c":"Lack of the normal diaphyseal constriction (thinning of long bones toward the midshaft area) giving the submetaphyseal areas an abnormally wide appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6001098","HPO_Synonym__c":"Metaphyseal modeling defect; Undermodelled metaphyses","HPO_Name__c":"Metaphyseal undermodelling","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609220","Feature__r":{"HPO_Description__c":"Bowing (abnormal curvature) of the femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002980","HPO_Synonym__c":"Bowed femur; Bowed femura; Bowed femurs; Bowed thighbone","HPO_Name__c":"Femoral bowing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609220","Feature__r":{"HPO_Description__c":"A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000768","HPO_Synonym__c":"Pigeon chest","HPO_Name__c":"Pectus carinatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609220","Feature__r":{"HPO_Description__c":"The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002645","HPO_Synonym__c":"Extra bones within cranial sutures; Intra sutural bones; Intrasutural bones; Islands of bone within cranial sutures","HPO_Name__c":"Wormian bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609220","Feature__r":{"HPO_Description__c":"A flattened vertebral body shape with reduced distance between the vertebral endplates.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000926","HPO_Synonym__c":"Flat vertebral bodies; Flattened vertebrae; Flattened vertebral bodies","HPO_Name__c":"Platyspondyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609220","Feature__r":{"HPO_Description__c":"Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000938","HPO_Synonym__c":"Generalized osteopenia","HPO_Name__c":"Osteopenia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609220","Feature__r":{"HPO_Description__c":"An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002987","HPO_Synonym__c":"Elbow flexion contractures; Elbow flexion deformity; Fixed flexion at the elbow joint","HPO_Name__c":"Elbow flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609220","Feature__r":{"HPO_Description__c":"An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002659","HPO_Synonym__c":"Abnormal susceptibility to fractures; Bone fragility; Frequent broken bones; Increased bone fragility; Increased susceptibility to fractures; Increased tendency to fractures","HPO_Name__c":"Increased susceptibility to fractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609220","Feature__r":{"HPO_Description__c":"A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006380","HPO_Synonym__c":"Flexion contracture of knees; Flexion contractures at both knees; Flexion contractures of knees; Flexion deformity of the knee; Knee flexion contractures; Knee flexion deformity","HPO_Name__c":"Knee flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609220","Feature__r":{"HPO_Description__c":"A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001371","HPO_Synonym__c":"Flexed joint that cannot be straightened; Flexion contractures; Flexion contractures of joints","HPO_Name__c":"Flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609220","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Fusion of cervical vertebrae at C6 and C7, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000807","HPO_Name__c":"Cervical C6/C7 vertebrae fusion","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609220","Feature__r":{"HPO_Description__c":"Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001762","HPO_Synonym__c":"Club feet; Club foot; Clubbing of feet; Clubfeet; Clubfoot; Equinovarus; Foot, talipes equinovarus; Pes equinovarus; Pes equinus","HPO_Name__c":"Talipes equinovarus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609220","Feature__r":{"HPO_Description__c":"Protrusion of the contents of the abdominal cavity through the inguinal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000023","HPO_Name__c":"Inguinal hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609220","Feature__r":{"HPO_Description__c":"Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001059","HPO_Synonym__c":"Pterygia","HPO_Name__c":"Pterygium","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609220","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["brks2"," bruck syndrome caused by mutation in plod2"," bruck syndrome type 2"," plod2 bruck syndrome"]}