{"Name":"Glomuvenous malformation","DiseaseID__c":"GARD:0016728","id":16728,"encodedName":"glomuvenous-malformation","IsDeleted":false,"Disease_Name_Full__c":"Glomuvenous malformation","Xref_IDs__c":"715644000; C1841984; C5350; C536827; DOID:7996; MEDGEN:374834; MONDO:0007672; OMIM:138000; ORPHA:83454","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":5,"Description_Source__c":"MONDO:0007672","Disease_Description__c":"A rare vascular anomaly or angioma characterized by the presence of small, multifocal bluish-purple venous lesions mainly involving the skin.","GARD_Name__c":"Glomuvenous malformation","GARD_Synonym__c":"familial glomangioma; glomangiomas, multiple; glomangiomatosis; glomus tumors, multiple; hereditary glomangioma; hereditary multiple glomangioma; hereditary multiple glomangiomas; multiple glomus tumors; multiple glomus tumours; venous malformations with glomus cells; vmglom","Curated_Disease_Description_Source__c":"MONDO:0007672","Curated_Disease_Description__c":"A rare vascular anomaly or angioma characterized by the presence of small, multifocal bluish-purple venous lesions mainly involving the skin.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:83454","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007672","ORPHANET_ID__c":"ORPHA:83454","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Malformación glomuvenosa","Spanish_Description_Source__c":"ORPHA:83454","Spanish_Description__c":"Es una anomalía vascular o angioma poco frecuente caracterizado por la presencia de pequeñas lesiones venosas multifocales de color azulado-púrpura que afectan principalmente a la piel.","Spanish_Disease_Name__c":"malformación glomuvenosa","Spanish_GARD_Synonym__c":"células glómicas con malformaciones venosas; glomangiomas múltiples hereditarios; glomangiomatosis; tumores glómicos múltiples; vmglom","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":"A rare vascular anomaly or angioma characterized by the presence of small, multifocal bluish-purple venous lesions mainly involving the skin.","Curated_Disease_Description_Source__c":"MONDO:0007672","GARD_Synonym__c":"familial glomangioma; glomangiomas, multiple; glomangiomatosis; glomus tumors, multiple; hereditary glomangioma; hereditary multiple glomangioma; hereditary multiple glomangiomas; multiple glomus tumors; multiple glomus tumours; venous malformations with glomus cells; vmglom","Name":"Glomuvenous malformation","estimateUsa":""}],"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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Vascular Neurology","Tag_Category__c":"Specialist","curated_tag_name":"Vascular neurology"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:83454"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:83454"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:83454"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:83454"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:83454"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A7996","Source__c":"MONDO:0007672","Xref__c":"DOID:7996"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1841984","Source__c":"C1841984","Xref__c":"C1841984"},{"URL__c":"https://www.orpha.net/en/disease/detail/83454","Source__c":"C1841984; MONDO:0007672; ORPHA:83454","Xref__c":"ORPHA:83454"},{"URL__c":"https://www.omim.org/entry/138000","Source__c":"C1841984; MONDO:0007672; ORPHA:83454","Xref__c":"OMIM:138000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=374834","Source__c":"C1841984","Xref__c":"MEDGEN:374834"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C5350","Source__c":"MONDO:0007672","Xref__c":"C5350"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715644000","Source__c":"C1841984; MONDO:0007672","Xref__c":"715644000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536827","Source__c":"MONDO:0007672","Xref__c":"C536827"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007672","Source__c":"GARD:0016728","Xref__c":"MONDO:0007672"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GLMN","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:83454","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200034","HPO_Synonym__c":"Papules","HPO_Name__c":"Papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83454","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A structural anomaly of the trachea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002778","HPO_Synonym__c":"Abnormal trachea morphology; Abnormality of the trachea","HPO_Name__c":"Abnormal tracheal morphology","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83454","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the arm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002817","HPO_Synonym__c":"Abnormality of the arm; Abnormality of the upper limb","HPO_Name__c":"Abnormality of the upper limb","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83454","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002814","HPO_Synonym__c":"Abnormality of the leg; Abnormality of the lower limb; Lower limb deformities","HPO_Name__c":"Abnormality of the lower limb","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83454","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the central compartment of the thoracic cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045026","HPO_Synonym__c":"Abnormality of the mediastinum","HPO_Name__c":"Abnormal mediastinum morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83454","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200036","HPO_Synonym__c":"Growth of abnormal tissue on or under the skin","HPO_Name__c":"Skin nodule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83454","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A lesion of the skin that is located in a specific region rather than being generalized.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011355","HPO_Synonym__c":"Localized skin lesion","HPO_Name__c":"Localized skin lesion","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83454","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A morphological abnormality of a digit, i.e., of a finger or toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011297","HPO_Synonym__c":"Abnormality of digit; Abnormality of fingers or toes; Digital anomalies","HPO_Name__c":"Abnormal digit morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83454","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin that is not localized to any one particular region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011354","HPO_Synonym__c":"Generalised abnormality of skin; Generalized abnormality of skin","HPO_Name__c":"Generalized abnormality of skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83454","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A palpable, solid lesion greater than 5mm in diameter that is located in the mucosa of the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031445","HPO_Name__c":"Oral mucosa nodule","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83454","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012210","HPO_Synonym__c":"Abnormal kidney morphology; Abnormally shaped kidney; Kidney malformation; Kidney structure issue; Renal malformation; Structural anomalies of the renal tract; Structural kidney abnormalities; Structural renal anomalies","HPO_Name__c":"Abnormal renal morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83454","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200035","HPO_Name__c":"Skin plaque","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83454","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002629","HPO_Synonym__c":"GI arteriovenous malformation","HPO_Name__c":"Gastrointestinal arteriovenous malformation","Feature_System__c":"Cardiovascular System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83454","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100026","HPO_Name__c":"Arteriovenous malformation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83454","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012721","HPO_Synonym__c":"Venous malformations","HPO_Name__c":"Venous malformation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83454","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010640","HPO_Synonym__c":"Abnormality of the nasal cavity","HPO_Name__c":"Abnormal nasal cavity morphology","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Vascular Neurology","Vascular Medicine","Pediatrics"]},"synonyms":["familial glomangioma"," glomangiomas, multiple"," glomangiomatosis"," glomus tumors, multiple"," hereditary glomangioma"," hereditary multiple glomangioma"," hereditary multiple glomangiomas"," multiple glomus tumors"," multiple glomus tumours"," venous malformations with glomus cells"," vmglom"]}