{"Name":"Primary intraosseous venous malformation","DiseaseID__c":"GARD:0016961","id":16961,"encodedName":"primary-intraosseous-venous-malformation","IsDeleted":false,"Disease_Name_Full__c":"Primary intraosseous venous malformation","Xref_IDs__c":"764100007; C1847197; C564648; MEDGEN:376071; MONDO:0011744; OMIM:606893; ORPHA:140436","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0011744","Disease_Description__c":"Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.","GARD_Name__c":"Primary intraosseous venous malformation","GARD_Synonym__c":"hemangioma, intraosseous; intraosseous hemangioma; osseous venous malformation; vascular malformation osseous; vascular malformation, primary intraosseous","Curated_Disease_Description_Source__c":"MONDO:0011744","Curated_Disease_Description__c":"Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:140436","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011744","ORPHANET_ID__c":"ORPHA:140436","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Malformación venosa intraósea primaria","Spanish_Description_Source__c":"ORPHA:140436","Spanish_Description__c":"La malformación venosa intraósea primaria es una anomalía vascular genética poco frecuente caracterizada por una expansión grave de los vasos sanguíneos (con frecuencia dentro de los huesos craneofaciales) con agrandamiento óseo indoloro (generalmente de la mandíbula, el maxilar y / o los huesos orbitales, nasales y frontales), que generalmente resulta en asimetría facial y deformación del contorno. Suelen asociarse anomalías de la línea media, tales como diástasis de los rectos, rafe supraumbilical y hernia de hiato. Las características adicionales notificadas incluyen sangrado gingival, erupción dental ectópica, exoftalmos, pérdida de visión, náuseas y vómitos.","Spanish_Disease_Name__c":"malformación venosa intraósea primaria","Spanish_GARD_Synonym__c":"hemangioma intraóseo; malformación venosa ósea","Category_Linearization__c":"ORPHA:93890","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":"Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.","Curated_Disease_Description_Source__c":"MONDO:0011744","GARD_Synonym__c":"hemangioma, intraosseous; intraosseous hemangioma; osseous venous malformation; vascular malformation osseous; vascular malformation, primary intraosseous","Name":"Primary intraosseous venous malformation","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"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":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=376071","Source__c":"C1847197","Xref__c":"MEDGEN:376071"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564648","Source__c":"MONDO:0011744","Xref__c":"C564648"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1847197","Source__c":"C1847197","Xref__c":"C1847197"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764100007","Source__c":"C1847197; MONDO:0011744","Xref__c":"764100007"},{"URL__c":"https://www.omim.org/entry/606893","Source__c":"C1847197; MONDO:0011744; ORPHA:140436","Xref__c":"OMIM:606893"},{"URL__c":"https://www.orpha.net/en/disease/detail/140436","Source__c":"C1847197; MONDO:0011744; ORPHA:140436","Xref__c":"ORPHA:140436"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011744","Source__c":"GARD:0016961","Xref__c":"MONDO:0011744"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ELMO2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:606893","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001540","HPO_Synonym__c":"Gap between large left and right abdominal muscles","HPO_Name__c":"Diastasis recti","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606893","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002516","HPO_Synonym__c":"Intracranial hypertension; Intracranial pressure elevation; Rise in pressure inside skull","HPO_Name__c":"Increased intracranial pressure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606893","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000572","HPO_Synonym__c":"Loss of vision; Vision loss; Visual loss","HPO_Name__c":"Visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606893","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410276","HPO_Synonym__c":"Midline supraumbilical raphe","HPO_Name__c":"Supraumbilical raphe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606893","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased serum levels of alkaline phosphatase activity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003155","HPO_Synonym__c":"Elevated alkaline phosphatase; Elevated ALP; Greatly elevated alkaline phosphatase; High serum alkaline phosphatase; Hyperphosphatasemia; Hyperphosphatasia; Increased alkaline phosphatase; Increased serum alkaline phosphatase","HPO_Name__c":"Elevated circulating alkaline phosphatase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:606893","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:606893","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal difference between the left and right sides of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000324","HPO_Synonym__c":"Asymmetric facies; Asymmetry of face; Asymmetry of right and left side of face; Crooked face; Facial asymmetry; Unsymmetrical face","HPO_Name__c":"Facial asymmetry","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606893","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hemorrhage affecting the gingiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000225","HPO_Synonym__c":"Bleeding gums; Gingival hemorrhage; Gingivorrhagia","HPO_Name__c":"Gingival bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606893","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition in which the permanent teeth, because of deficiency of growth in the jaw or segment of jaw, assume a path of eruption that intercepts a primary tooth, causes its premature loss and produces a consequent malposition of the permanent tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:4000093","HPO_Name__c":"Ectopic tooth eruption","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606893","HPO_Frequency__c":"Very frequent (80-99%)","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:606893","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001931","HPO_Synonym__c":"Hypochromic anemia","HPO_Name__c":"Hypochromic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Cancer","Genetics","Congenital Abnormality"],"Cause":["Genetics"],"Specialist":["Genetics","Orthopedics","Vascular Medicine"]},"synonyms":["hemangioma, intraosseous"," intraosseous hemangioma"," osseous venous malformation"," vascular malformation osseous"," vascular malformation, primary intraosseous"]}