{"Name":"Osteogenesis imperfecta type III","DiseaseID__c":"GARD:0008695","id":8695,"encodedName":"osteogenesis-imperfecta-type-iii","IsDeleted":false,"Disease_Name_Full__c":"Osteogenesis imperfecta type III","Xref_IDs__c":"385483009; C0268362; C536044; C99002; DOID:0110339; MEDGEN:78664; MONDO:0009804; OMIM:259420; ORPHA:216812","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009804","Disease_Description__c":"A severe type form osteogenesis imperfecta characterized by increased bone fragility and low bone mass clinically manifesting as susceptibility to bone fractures, severe short stature, a triangular face, moderate to severe scoliosis, blue or blue-grey sclera, and dentinogenesis imperfecta.","GARD_Name__c":"Osteogenesis imperfecta type III","GARD_Synonym__c":"oi type 3; oi type iii; oi3; osteogenesis imperfecta type 3; osteogenesis imperfecta, progressively deforming with normal sclerae; progressive deforming osteogenesis imperfecta; progressively deforming osteogenesis imperfecta; progressively deforming osteogenesis imperfecta with normal sclera; severe osteogenesis imperfecta","Curated_Disease_Description_Source__c":"GARD:0008695","Curated_Disease_Description__c":"Osteogenesis imperfecta type III (OI type III) is a form of osteogenesis imperfecta, a group of genetic conditions that primarily affect the bones. In OI type III, specifically, a diagnosis can often be made shortly after birth as fractures (broken bones) during the newborn period simply from handling the infant are common. Other symptoms vary significantly but may include severe bone fragility, bone malformations, short stature, dental problems (dentinogenesis imperfect), macrocephaly (unusually large head), hearing loss, and blue sclerae (whites of the eyes). OI type III is caused by changes in the COL1A1 or COL1A2 genes and is inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:216812","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009804","ORPHANET_ID__c":"ORPHA:216812","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Osteogénesis imperfecta tipo 3","Spanish_Description_Source__c":"ORPHA:216812","Spanish_Description__c":"Es un tipo grave de osteogénesis imperfecta que se caracteriza por un aumento de la fragilidad ósea y baja masa ósea que se manifiesta clínicamente como susceptibilidad a las fracturas óseas, talla baja extrema, cara triangular, escoliosis de moderada a grave, esclerótica azul o azul-grisáceo y dentinogénesis imperfecta.","Spanish_Disease_Name__c":"osteogénesis imperfecta tipo 3","Spanish_GARD_Synonym__c":"oi tipo 3; osteogénesis imperfecta deformante progresiva; osteogénesis imperfecta grave","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":"Osteogenesis imperfecta type III (OI type III) is a form of osteogenesis imperfecta, a group of genetic conditions that primarily affect the bones. In OI type III, specifically, a diagnosis can often be made shortly after birth as fractures (broken bones) during the newborn period simply from handling the infant are common. Other symptoms vary significantly but may include severe bone fragility, bone malformations, short stature, dental problems (dentinogenesis imperfect), macrocephaly (unusually large head), hearing loss, and blue sclerae (whites of the eyes). OI type III is caused by changes in the COL1A1 or COL1A2 genes and is inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0008695","GARD_Synonym__c":"oi type 3; oi type iii; oi3; osteogenesis imperfecta type 3; osteogenesis imperfecta, progressively deforming with normal sclerae; progressive deforming osteogenesis imperfecta; progressively deforming osteogenesis imperfecta; progressively deforming osteogenesis imperfecta with normal sclera; severe osteogenesis imperfecta","Name":"Osteogenesis imperfecta type III","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"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/"}],"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Odontology","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:216812"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:216812"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0268362"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008695","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1295","Source__c":"Gene Review","Xref__c":"NBK1295"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110339","Source__c":"MONDO:0009804","Xref__c":"DOID:0110339"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C99002","Source__c":"C0268362; MONDO:0009804","Xref__c":"C99002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78664","Source__c":"C0268362","Xref__c":"MEDGEN:78664"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=385483009","Source__c":"C0268362; MONDO:0009804","Xref__c":"385483009"},{"URL__c":"https://www.omim.org/entry/259420","Source__c":"C0268362; MONDO:0009804; ORPHA:216812","Xref__c":"OMIM:259420"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536044","Source__c":"MONDO:0009804","Xref__c":"C536044"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268362","Source__c":"C0268362","Xref__c":"C0268362"},{"URL__c":"https://www.orpha.net/en/disease/detail/216812","Source__c":"C0268362; MONDO:0009804; ORPHA:216812","Xref__c":"ORPHA:216812"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009804","Source__c":"GARD:0008695","Xref__c":"MONDO:0009804"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"COL1A2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col1a2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"COL1A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col1a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant","X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:259420","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:259420","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:259420","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:259420","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:259420","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:259420","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:259420","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:259420","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000347","HPO_Synonym__c":"Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible","HPO_Name__c":"Micrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259420","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:259420","Feature__r":{"HPO_Description__c":"Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005758","HPO_Name__c":"Basilar impression","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259420","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259420","Feature__r":{"HPO_Description__c":"Severe degree of osteoporosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005897","HPO_Synonym__c":"Severe, generalized osteoporosis","HPO_Name__c":"Severe generalized osteoporosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259420","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:259420","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Popcorn calcifications are areas of amorphous calcifications often with rings and arcs that resemble popped corn kernels in the metaphysis and epiphysis around the growth plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000871","HPO_Name__c":"Popcorn calcification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259420","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:259420","Feature__r":{"HPO_Description__c":"Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002007","HPO_Synonym__c":"Frontal protuberance; Skull bossing","HPO_Name__c":"Frontal bossing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259420","Feature__r":{"HPO_Description__c":"Intrapelvic bulging of the medial acetabular wall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003179","HPO_Synonym__c":"Abnormally indented hip sockets; Acetabular protrusion; Protrusio acetabulae","HPO_Name__c":"Protrusio acetabuli","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259420","Feature__r":{"HPO_Description__c":"A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002691","HPO_Synonym__c":"Increased basal angle of skull base; Obtuse basal angle of skull base","HPO_Name__c":"Platybasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259420","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:259420","Feature__r":{"HPO_Description__c":"Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004586","HPO_Synonym__c":"Biconcave 'codfish' vertebrae; Biconcave vertebrae; Codfish vertebrae; Fish vertebrae; Scalloping of vertebral bodies","HPO_Name__c":"Biconcave vertebral bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259420","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:259420","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:259420","Feature__r":{"HPO_Description__c":"Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002092","HPO_Synonym__c":"Increased blood pressure in blood vessels of lungs; Pulmonary artery hypertension","HPO_Name__c":"Pulmonary arterial hypertension","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259420","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:259420","Feature__r":{"HPO_Description__c":"A type of short-limbed dwarfism that is manifest beginning in the neonatal period.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008921","HPO_Synonym__c":"Dwarfism, neonatal short-limbed; Neonatal short-limbed dwarfism; Short limb dwarfism recognizable at birth; Short-limb dwarfism identifiable at birth; Short-limb dwarfism identifiable neonatally; Short-limbed dwarfism identifiable at birth","HPO_Name__c":"Neonatal short-limb short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259420","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Orthopedics","Odontology","Pediatrics"]},"synonyms":["oi type 3"," oi type iii"," oi3"," osteogenesis imperfecta type 3"," osteogenesis imperfecta, progressively deforming with normal sclerae"," progressive deforming osteogenesis imperfecta"," progressively deforming osteogenesis imperfecta"," progressively deforming osteogenesis imperfecta with normal sclera"," severe osteogenesis imperfecta"]}