{"Name":"Osteogenesis imperfecta, perinatal lethal","DiseaseID__c":"GARD:0010142","id":10142,"encodedName":"osteogenesis-imperfecta-perinatal-lethal","IsDeleted":false,"Disease_Name_Full__c":"Osteogenesis imperfecta, perinatal lethal","Xref_IDs__c":"205496008; 423022255; 86470003; C0268358; C536042; C99001; DOID:0110341; MEDGEN:75673; MONDO:0008147; OMIM:166210; ORPHA:216804","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008147","Disease_Description__c":"A lethal type of osteogenesis imperfecta (OI) characterized by increased bone fragility, low bone mass and susceptibility to bone fractures and presenting with multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density skull on X-ray, and dark sclera.","GARD_Name__c":"Osteogenesis imperfecta, perinatal lethal","GARD_Synonym__c":"lethal osteogenesis imperfecta; neonatal lethal osteogenesis imperfecta congenita; oi type 2; oi, type ii; oi2; osteogenesis imperfecta congenita; osteogenesis imperfecta congenita neonatal lethal form; osteogenesis imperfecta type 2; osteogenesis imperfecta type ii; osteogenesis imperfecta type ii, dominant form; osteogenesis imperfecta type iia; osteogenesis imperfecta, dominant perinatal lethal; osteogenesis imperfecta, neonatal lethal; osteogenesis imperfecta, type ii; perinatal lethal osteogenesis imperfecta congenita; vrolik type of osteogenesis imperfecta","Curated_Disease_Description_Source__c":"MONDO:0008147","Curated_Disease_Description__c":"A lethal type of osteogenesis imperfecta (OI) characterized by increased bone fragility, low bone mass and susceptibility to bone fractures and presenting with multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density skull on X-ray, and dark sclera.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:216804","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008147","ORPHANET_ID__c":"ORPHA:216804","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Osteogénesis imperfecta tipo 2","Spanish_Description_Source__c":"ORPHA:216804","Spanish_Description__c":"Es un tipo letal de osteogénesis imperfecta (OI) caracterizada por un incremento de la fragilidad ósea, baja masa ósea y susceptibilidad a las fracturas óseas y que se presenta con múltiples fracturas de costillas y huesos largos al nacer, deformidades notables, ensanchamiento de los huesos largos, cráneo de baja densidad en la radiografía, y esclerótica oscura.","Spanish_Disease_Name__c":"osteogénesis imperfecta tipo 2","Spanish_GARD_Synonym__c":"oi tipo 2; osteogénesis imperfecta letal","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 lethal type of osteogenesis imperfecta (OI) characterized by increased bone fragility, low bone mass and susceptibility to bone fractures and presenting with multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density skull on X-ray, and dark sclera.","Curated_Disease_Description_Source__c":"MONDO:0008147","GARD_Synonym__c":"lethal osteogenesis imperfecta; neonatal lethal osteogenesis imperfecta congenita; oi type 2; oi, type ii; oi2; osteogenesis imperfecta congenita; osteogenesis imperfecta congenita neonatal lethal form; osteogenesis imperfecta type 2; osteogenesis imperfecta type ii; osteogenesis imperfecta type ii, dominant form; osteogenesis imperfecta type iia; osteogenesis imperfecta, dominant perinatal lethal; osteogenesis imperfecta, neonatal lethal; osteogenesis imperfecta, type ii; perinatal lethal osteogenesis imperfecta congenita; vrolik type of osteogenesis imperfecta","Name":"Osteogenesis imperfecta, perinatal lethal","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.org/"},{"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:216804"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:216804"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010142","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1295","Source__c":"Gene Review","Xref__c":"NBK1295"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536042","Source__c":"MONDO:0008147","Xref__c":"C536042"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=86470003","Source__c":"MONDO:0008147","Xref__c":"86470003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75673","Source__c":"C0268358","Xref__c":"MEDGEN:75673"},{"URL__c":"https://www.orpha.net/en/disease/detail/216804","Source__c":"C0268358; MONDO:0008147; ORPHA:216804","Xref__c":"ORPHA:216804"},{"URL__c":"https://www.omim.org/entry/166210","Source__c":"C0268358; MONDO:0008147; ORPHA:216804","Xref__c":"OMIM:166210"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268358","Source__c":"C0268358","Xref__c":"C0268358"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110341","Source__c":"MONDO:0008147","Xref__c":"DOID:0110341"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C99001","Source__c":"C0268358; MONDO:0008147","Xref__c":"C99001"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254110009","Source__c":"C0268358","Xref__c":"254110009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008147","Source__c":"GARD:0010142","Xref__c":"MONDO:0008147"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=7134007","Source__c":"C0268358","Xref__c":"7134007"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=205496008","Source__c":"C0268358","Xref__c":"205496008"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022255","Xref__c":"423022255"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"COL1A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col1a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"COL1A2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col1a2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:166210","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Limb shortening because of underdevelopment of one or more bones of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009826","HPO_Synonym__c":"Hypoplasia involving bones of the extremities; limb shortening; Limb undergrowth; Short limb; Short limbs","HPO_Name__c":"Limb undergrowth","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166210","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:166210","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Acalvaria is an extremely rare congenital malformation characterized by an absence of flat bones of skull, dura mater, and associated muscles in the presence of normal cranial contents and facial bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005623","HPO_Synonym__c":"Absent bone maturation of skullcap; Absent ossification of skull vault; Acalvaria","HPO_Name__c":"Absent ossification of calvaria","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166210","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:166210","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:166210","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005257","HPO_Synonym__c":"Small chest; Small thorax","HPO_Name__c":"Thoracic hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166210","Feature__r":{"HPO_Description__c":"In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000239","HPO_Synonym__c":"Enlarged fontanelles; Large fontanel; Large fontanelle; Large fontanels; Persistent wide fontanel; Wide fontanelles","HPO_Name__c":"Large fontanelles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166210","Feature__r":{"HPO_Description__c":"A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens .","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001790","HPO_Synonym__c":"Hydrops fetalis, non-immune; Hydrops fetalis, nonimmune; Non-immune fetal hydrops; Nonimmune hydrops","HPO_Name__c":"Nonimmune hydrops fetalis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166210","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:166210","Feature__r":{"HPO_Description__c":"The birth of a baby of less than 37 weeks of gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001622","HPO_Synonym__c":"Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time","HPO_Name__c":"Premature birth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166210","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006367","HPO_Synonym__c":"Crumpled long bones","HPO_Name__c":"Crumpled long bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166210","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:166210","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:166210","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:166210","Feature__r":{"HPO_Description__c":"Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000963","HPO_Synonym__c":"Thin skin","HPO_Name__c":"Thin skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166210","Feature__r":{"HPO_Description__c":"The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001635","HPO_Synonym__c":"Cardiac failure; Cardiac failures; Cardiac insufficiency; CHF; Chronic heart failure; Heart failure","HPO_Name__c":"Congestive heart failure","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166210","HPO_Frequency__c":"Very frequent (80-99%)","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:166210","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001591","HPO_Synonym__c":"Bell-shaped chest; Constricted, bell-shaped thorax; Narrow, bell-shaped thorax","HPO_Name__c":"Bell-shaped thorax","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166210","Feature__r":{"HPO_Description__c":"An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002644","HPO_Synonym__c":"Abnormal shape of pelvic girdle bone; Abnormality of pelvic girdle bone morphology","HPO_Name__c":"Abnormal pelvic girdle bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166210","Feature__r":{"HPO_Description__c":"Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005622","HPO_Synonym__c":"Broad long bones; Wide long bones; Widened long bones","HPO_Name__c":"Broad long bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166210","Feature__r":{"HPO_Description__c":"Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000444","HPO_Synonym__c":"Beaked nose; Beaklike protrusion; Convex dorsum of nose; Convex nasal dorsum; Hooked nose; Polly beak nasal deformity","HPO_Name__c":"Convex nasal ridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166210","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:166210","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166210","Feature__r":{"HPO_Description__c":"The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010444","HPO_Synonym__c":"Pulmonary incompetence; Pulmonary valve insufficiency; Pulmonary valve regurgitation; Puolmonary valve insufficiency","HPO_Name__c":"Pulmonic regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166210","Feature__r":{"HPO_Description__c":"Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001518","HPO_Synonym__c":"Birth weight less than 10th percentile; Low birth weight; Small for gestational age","HPO_Name__c":"Small for gestational age","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Orthopedics","Pediatrics"]},"synonyms":["lethal osteogenesis imperfecta"," neonatal lethal osteogenesis imperfecta congenita"," oi type 2"," oi, type ii"," oi2"," osteogenesis imperfecta congenita"," osteogenesis imperfecta congenita neonatal lethal form"," osteogenesis imperfecta type 2"," osteogenesis imperfecta type ii"," osteogenesis imperfecta type ii, dominant form"," osteogenesis imperfecta type iia"," osteogenesis imperfecta, dominant perinatal lethal"," osteogenesis imperfecta, neonatal lethal"," osteogenesis imperfecta, type ii"," perinatal lethal osteogenesis imperfecta congenita"," vrolik type of osteogenesis imperfecta"]}