{"Name":"Osteogenesis imperfecta type 8","DiseaseID__c":"GARD:0010152","id":10152,"encodedName":"osteogenesis-imperfecta-type-8","IsDeleted":false,"Disease_Name_Full__c":"Osteogenesis imperfecta type 8","Xref_IDs__c":"C1970458; C536049; DOID:0110336; MEDGEN:410075; MONDO:0012581; OMIM:610915","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:0012581","Disease_Description__c":"Any osteogenesis imperfecta in which the cause of the disease is a mutation in the P3H1 gene.","GARD_Name__c":"Osteogenesis imperfecta type 8","GARD_Synonym__c":"lepre1-related osteogenesis imperfecta; oi8; osteogenesis imperfecta caused by mutation in p3h1; osteogenesis imperfecta type viii; p3h1 osteogenesis imperfecta","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Osteogenesis imperfecta (OI) is a disease that affects the bones and makes them fragile and weak. There are different types of OI, which are classified based on how severe the disease is and the symptoms that patients have. OI type VIII is is a rare form of OI that is inherited in an autosomal recessive manner. It is caused by changes in the LEPRE1 gene. OI type VIII is characterized by white sclerae, severe growth deficiency, extremely weak bones, and rounded ends on the long bones (bulbous metaphyses).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:610915","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012581","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 (OI) is a disease that affects the bones and makes them fragile and weak. There are different types of OI, which are classified based on how severe the disease is and the symptoms that patients have. OI type VIII is is a rare form of OI that is inherited in an autosomal recessive manner. It is caused by changes in the LEPRE1 gene. OI type VIII is characterized by white sclerae, severe growth deficiency, extremely weak bones, and rounded ends on the long bones (bulbous metaphyses).","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"lepre1-related osteogenesis imperfecta; oi8; osteogenesis imperfecta caused by mutation in p3h1; osteogenesis imperfecta type viii; p3h1 osteogenesis imperfecta","Name":"Osteogenesis imperfecta type 8","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/0010152","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110336","Source__c":"MONDO:0012581","Xref__c":"DOID:0110336"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1970458","Source__c":"C1970458","Xref__c":"C1970458"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536049","Source__c":"MONDO:0012581","Xref__c":"C536049"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=410075","Source__c":"C1970458","Xref__c":"MEDGEN:410075"},{"URL__c":"https://www.omim.org/entry/610915","Source__c":"C1970458; MONDO:0012581","Xref__c":"OMIM:610915"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012581","Source__c":"GARD:0010152","Xref__c":"MONDO:0012581"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"P3H1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:610915","Feature__r":{"HPO_Description__c":"Reduced diameter of a long bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003100","HPO_Synonym__c":"Gracile long bones; Long bones slender; Slender long bone; Slender, gracile long tubular bones; Thin long bones; Thin, gracile long bones","HPO_Name__c":"Slender long bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610915","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:610915","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610915","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001552","HPO_Synonym__c":"Barrel chest; Barrel-shaped chest","HPO_Name__c":"Barrel-shaped chest","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610915","HPO_Frequency__c":"Occasional (5-29%)","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:610915","Feature__r":{"HPO_Description__c":"A reduction in the magnitude or amount of ossification of the skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004331","HPO_Synonym__c":"Decreased bone formation of skull; Deficient skull ossification; Hypoossification of skull; Ossification defect of skull; Poorly mineralized skull; Poorly ossified skull; Poorly ossified skull bones","HPO_Name__c":"Decreased skull ossification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610915","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:610915","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Ribs with a reduced diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000883","HPO_Synonym__c":"Slender ribs; Thin ribs","HPO_Name__c":"Thin ribs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610915","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001382","HPO_Synonym__c":"Double-Jointed; Extensible joints; Flexible joints; Hyperextensible joints; Increased joint mobility; Increased mobility of joints; Joint hyperextensibility; Joint hyperflexibility; Joint hyperlaxity; Joint laxity; Joints move beyond expected range of motion; Lax joints; Loose-jointedness","HPO_Name__c":"Joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610915","HPO_Frequency__c":"Occasional (5-29%)","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:610915","HPO_Frequency__c":"Occasional (5-29%)","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:610915","Feature__r":{"HPO_Description__c":"A bending or abnormal curvature of the tibia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002982","HPO_Synonym__c":"Bowed shankbone; Bowed shinbone; Bowed tibia; Bowing of the tibia","HPO_Name__c":"Tibial bowing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610915","HPO_Frequency__c":"Frequent (30-79%)","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:610915","HPO_Frequency__c":"Frequent (30-79%)","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:610915","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:610915","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:610915","HPO_Frequency__c":"Very frequent (80-99%)","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:610915","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010049","HPO_Synonym__c":"Brachymetacarpalia; Hypoplastic metacarpal; Metacarpal hypoplasia; Short metacarpals; Shortened long bone of hand; Shortened long bones of hand; Shortened metacarpals; Shortening of metacarpals","HPO_Name__c":"Short metacarpal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610915","HPO_Frequency__c":"Very frequent (80-99%)","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:610915","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003784","HPO_Name__c":"Type 1 collagen overmodification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610915","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":"OMIM:610915","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:610915","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The facial appearance is more circular than usual as viewed from the front.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000311","HPO_Synonym__c":"Circular face; Round face; Round facial appearance; Round facial shape; Round facies","HPO_Name__c":"Round face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610915","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:610915","HPO_Frequency__c":"Frequent (30-79%)","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:610915","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal backward rotation of the hip relative to the knee such that the hips are externally rotated with the foot pointed outward instead of straight ahead (out-toeing).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008796","HPO_Synonym__c":"Decreased femoral torsion; Externally rotated hips","HPO_Name__c":"Femoral retroversion","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["lepre1-related osteogenesis imperfecta"," oi8"," osteogenesis imperfecta caused by mutation in p3h1"," osteogenesis imperfecta type viii"," p3h1 osteogenesis imperfecta"]}