{"Name":"Osteogenesis imperfecta type 9","DiseaseID__c":"GARD:0010619","id":10619,"encodedName":"osteogenesis-imperfecta-type-9","IsDeleted":false,"Disease_Name_Full__c":"Osteogenesis imperfecta type 9","Xref_IDs__c":"C1850169; C564921; DOID:0110349; MEDGEN:376720; MONDO:0009805; OMIM:259440","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":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0009805","Disease_Description__c":"Any osteogenesis imperfecta in which the cause of the disease is a mutation in the PPIB gene.","GARD_Name__c":"Osteogenesis imperfecta type 9","GARD_Synonym__c":"oi 9; oi type ix; oi9; osteogenesis imperfecta caused by mutation in ppib; osteogenesis imperfecta sillence type ii/iii without abnormality of type i collagen; osteogenesis imperfecta type ix; ppib osteogenesis imperfecta; ppib-related osteogenesis imperfecta","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Osteogenesis imperfecta, type IX is a medical condition that affects the body's connective tissue. Connective tissues support and connect other types of tissues. Some specific types of connective tissue include bones, tendons, ligaments, and cartilage. In osteogenesis imperfecta, type IX, the bones are affected, making them fragile and more likely to break. This type of osteogenesis imperfecta is a severe form of the disorder that is inherited from both parents (autosomal recessive inheritance). It is caused by changes in the PPIB gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:259440","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009805","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":"Osteogenesis imperfecta, type IX is a medical condition that affects the body's connective tissue. Connective tissues support and connect other types of tissues. Some specific types of connective tissue include bones, tendons, ligaments, and cartilage. In osteogenesis imperfecta, type IX, the bones are affected, making them fragile and more likely to break. This type of osteogenesis imperfecta is a severe form of the disorder that is inherited from both parents (autosomal recessive inheritance). It is caused by changes in the PPIB gene.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"oi 9; oi type ix; oi9; osteogenesis imperfecta caused by mutation in ppib; osteogenesis imperfecta sillence type ii/iii without abnormality of type i collagen; osteogenesis imperfecta type ix; ppib osteogenesis imperfecta; ppib-related osteogenesis imperfecta","Name":"Osteogenesis imperfecta type 9","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Osteogenesis Imperfecta Foundation","Website__c":"https://oif.org/"},{"Account_Name__c":"Children's Brittle Bone Foundation","Website__c":"https://www.cbbf.org/"},{"Account_Name__c":"Canadian Osteogenesis Imperfecta Society","Website__c":"https://www.cois-scoi.ca/"},{"Account_Name__c":"The Brittle Bone Society","Website__c":"https://brittlebone.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010619","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=376720","Source__c":"C1850169","Xref__c":"MEDGEN:376720"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1850169","Source__c":"C1850169","Xref__c":"C1850169"},{"URL__c":"https://www.omim.org/entry/259440","Source__c":"C1850169; MONDO:0009805","Xref__c":"OMIM:259440"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110349","Source__c":"MONDO:0009805","Xref__c":"DOID:0110349"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564921","Source__c":"MONDO:0009805","Xref__c":"C564921"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009805","Source__c":"GARD:0010619","Xref__c":"MONDO:0009805"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PPIB","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:259440","Feature__r":{"HPO_Description__c":"More than one fracture of the ribs. Callus formation around multiple rib fractures can produce a row of multiple rounded expansions (beadlike prominences) giving the appearance of beaded ribs. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006640","HPO_Synonym__c":"Multiple rib fractures","HPO_Name__c":"Multiple rib fractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259440","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Incapability to ambulate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002540","HPO_Synonym__c":"Inability to walk; Non-ambulatory","HPO_Name__c":"Inability to walk","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259440","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A bending or abnormal curvature of a long bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006487","HPO_Synonym__c":"Bowed long bones; Bowing of long bones; Bowing of the long bones; Camptomelia; Diaphyseal bowing; Diaphyseal bowing of long bones","HPO_Name__c":"Bowing of the long bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259440","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002757","HPO_Synonym__c":"Frequent fractures; Increased fracture rate; Increased fractures; Multiple fractures; Multiple spontaneous fractures; Recurrent fractures; Varying degree of multiple fractures","HPO_Name__c":"Recurrent fractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259440","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259440","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An eye that is protruding anterior to the plane of the face to a greater extent than is typical.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000520","HPO_Synonym__c":"Anterior bulging of the globe; Anterior bulging of the globe of eye; Bulging eye; Exophthalmos; Eyeballs bulging out; Ocular proptosis; Prominent eyes; Prominent globes; Protruding eyes; Protrusio bulbi","HPO_Name__c":"Proptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259440","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Curvature of the shafts of the long bones due to multiple fractures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003023","HPO_Synonym__c":"Bowed limbs due to multiple fractures","HPO_Name__c":"Bowing of limbs due to multiple fractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259440","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of bone fractures in the prenatal period that are diagnosed at birth or before.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005855","HPO_Synonym__c":"Congenital bone fractures; Multiple fractures present at birth; Multiple fractures, present at birth; Numerous multiple fractures present at birth; Numerous multiple fractures that are present at birth","HPO_Name__c":"Multiple prenatal fractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259440","HPO_Frequency__c":"Very frequent (80-99%)","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:259440","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001763","HPO_Synonym__c":"Flat feet; Flat foot","HPO_Name__c":"Pes planus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259440","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006094","HPO_Synonym__c":"Increased mobility in finger joint","HPO_Name__c":"Finger joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259440","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000774","HPO_Synonym__c":"Low chest circumference; Narrow chest; Narrow shoulders; Narrow thorax; Reduced anterior-posterior chest diameter","HPO_Name__c":"Narrow chest","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259440","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:259440","HPO_Frequency__c":"Frequent (30-79%)","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:259440","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Exaggerated anterior convexity of the thoracic vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002808","HPO_Synonym__c":"Gibbus deformity; Hunched back; Hyperkyphosis; Round back","HPO_Name__c":"Kyphosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259440","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Tubulation refers to the size and shape of tubular bones. In children and adolescents, the modeling process regulates normal bone growth. Final shaft (tube) diameter depends on appositional bone growth and the equilibrium between periosteal and endosteal bone resorption and formation. Undertubulation refers to a broad, widened form of the shafts (diaphyses) of long bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005019","HPO_Synonym__c":"Diaphyseal widening; Thickening of shaft or central part of long bones; Undertubulated long bones; Undertubulation of diaphyses","HPO_Name__c":"Diaphyseal undertubulation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259440","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045087","HPO_Name__c":"Hip joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259440","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal bluish coloration of the sclera.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000592","HPO_Synonym__c":"Blue sclera; Bluish sclerae; Gray sclerae; Whites of eyes are a bluish-gray color","HPO_Name__c":"Blue sclerae","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259440","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008873","HPO_Synonym__c":"Brachymelic dwarfism; Disproportionate short limb dwarfism; Dwarfism, short-limbed; Micromelic dwarfism; Short limb dwarfism, disproportionate; Short stature, disproportionate short limb; Short stature, disproportionate short-limb; Short-limb dwarfism; Short-limbed dwarfism","HPO_Name__c":"Disproportionate short-limb short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259440","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002953","HPO_Synonym__c":"Compression fracture of a vertebral body; Fractures of vertebral bodies; Vertebral body compression; Vertebral collapse; Vertebral compression; Vertebral compression fractures; Vertebral compression or collapse","HPO_Name__c":"Vertebral compression fracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259440","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:259440","Feature__r":{"HPO_Description__c":"Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005474","HPO_Synonym__c":"Poorly ossified calvaria; Poorly ossified calvarium; Soft calvaria; Soft skullcap; Undermineralized calvarium","HPO_Name__c":"Decreased calvarial ossification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259440","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced convexity of the occiput (posterior part of skull).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005469","HPO_Synonym__c":"Flat posterior cranium; Posterior flattening of the skull","HPO_Name__c":"Flat occiput","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259440","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002194","HPO_Synonym__c":"Delayed attainment of gross motor milestones; Delayed attainment of gross motor skills; Delayed development of gross motor milestones; Delayed development of gross motor skills; Delayed gross motor milestones; Delayed gross motor skills; Delayed motor skills; Developmental delay, gross motor; Gross motor delay; Limited gross motor development; Limited gross motor skills","HPO_Name__c":"Delayed gross motor development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259440","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000325","HPO_Synonym__c":"Face with broad temples and narrow chin; Inverted triangular face; Triangular face; Triangular facial shape; Triangular facies","HPO_Name__c":"Triangular face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259440","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Enlargement of the anterior fontanelle with respect to age-dependent norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000260","HPO_Synonym__c":"Large anterior fontanel; Large anterior fontanelle; Large open anterior fontanel; Large open anterior fontanelle; Wide anterior fontanelle; Wide open anterior fontanelle; Wider-than-typical soft spot of skull","HPO_Name__c":"Wide anterior fontanel","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259440","Feature__r":{"HPO_Description__c":"A defect of the chest wall characterized by a depression of the sternum, giving the chest (\\\"pectus\\\") a caved-in (\\\"excavatum\\\") appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000767","HPO_Synonym__c":"Funnel chest","HPO_Name__c":"Pectus excavatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259440","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Developmental dysplasia of dentin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000703","HPO_Name__c":"Dentinogenesis imperfecta","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259440","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000939","HPO_Name__c":"Osteoporosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259440","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001537","HPO_Synonym__c":"Umbilical hernias","HPO_Name__c":"Umbilical hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259440","Feature__r":{"HPO_Description__c":"Shortening of the legs related to developmental hypoplasia of the bones of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006385","HPO_Synonym__c":"Short legs; Short lower limbs","HPO_Name__c":"Short lower limbs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["oi 9"," oi type ix"," oi9"," osteogenesis imperfecta caused by mutation in ppib"," osteogenesis imperfecta sillence type ii/iii without abnormality of type i collagen"," osteogenesis imperfecta type ix"," ppib osteogenesis imperfecta"," ppib-related osteogenesis imperfecta"]}