{"Name":"Kaposiform lymphangiomatosis","DiseaseID__c":"GARD:0013451","id":13451,"encodedName":"kaposiform-lymphangiomatosis","IsDeleted":false,"Disease_Name_Full__c":"Kaposiform lymphangiomatosis","Xref_IDs__c":"1228861004; C5681097; MEDGEN:1807991; MONDO:0018736; ORPHA:464329","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018736","Disease_Description__c":"A generalized lymphatic anomaly characterized by kaposiform spindled lymphatic endothelial cells.","GARD_Name__c":"Kaposiform lymphangiomatosis","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Kaposiform lymphangiomatosis (KLA) is a rare type of tumor and vascular malformation that results from the abnormal development of the lymphatic system. The lymphatic system is part of the immune system made up of vessels that help to protect the body from infection and foreign substances. KLA involves multiple parts of the body, especially the lungs and chest. Symptoms of KLA usually start during childhood, and include shortness of breath (dyspnea) and cough due to the accumulation of fluid around the lungs (pleural effusion) and heart (pericardial effusion). Other common symptoms include chest and body pain, abnormal bleeding and bruising, and soft masses under the skin. Blood collections may form under the skull (epidural hematoma). The cause for KLA is unknown and it is not thought to be inherited in families. KLA is diagnosed based on the symptoms, laboratory testing, and a biopsy of tumor tissue.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:464329","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018736","ORPHANET_ID__c":"ORPHA:464329","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Linfangiomatosis kaposiforme","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"linfangiomatosis kaposiforme","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:250908","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":"Kaposiform lymphangiomatosis (KLA) is a rare type of tumor and vascular malformation that results from the abnormal development of the lymphatic system. The lymphatic system is part of the immune system made up of vessels that help to protect the body from infection and foreign substances. KLA involves multiple parts of the body, especially the lungs and chest. Symptoms of KLA usually start during childhood, and include shortness of breath (dyspnea) and cough due to the accumulation of fluid around the lungs (pleural effusion) and heart (pericardial effusion). Other common symptoms include chest and body pain, abnormal bleeding and bruising, and soft masses under the skin. Blood collections may form under the skull (epidural hematoma). The cause for KLA is unknown and it is not thought to be inherited in families. KLA is diagnosed based on the symptoms, laboratory testing, and a biopsy of tumor tissue.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Name":"Kaposiform lymphangiomatosis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Lymphangiomatosis & Gorham's Disease Alliance","Website__c":"https://www.lgdalliance.org/"}],"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":"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 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":"Childhood","Provided_By__c":"ORPHA:464329"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/464329","Source__c":"C5681097; MONDO:0018736; ORPHA:464329","Xref__c":"ORPHA:464329"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5681097","Source__c":"C5681097","Xref__c":"C5681097"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1807991","Source__c":"C5681097","Xref__c":"MEDGEN:1807991"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1228861004","Source__c":"C5681097","Xref__c":"1228861004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018736","Source__c":"GARD:0013451","Xref__c":"MONDO:0018736"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bleeding beneath the mucous membrane that lines the inner surface of the eyelid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011896","HPO_Name__c":"Subconjunctival hemorrhage","Feature_System__c":"Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any anomaly of the structure of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025408","HPO_Name__c":"Abnormal spleen morphology","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the structure of the humerus (i.e., upper arm bone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031095","HPO_Synonym__c":"Abnormality of the humerus","HPO_Name__c":"Abnormal humerus morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the cervical vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003319","HPO_Synonym__c":"Abnormal cervical spine; Abnormality of cervical vertebra; Abnormality of the cervical vertebrae; Cervical spine abnormalities; Cervical vertebral abnormalities; Disorder of cervical vertebra","HPO_Name__c":"Abnormality of the cervical spine","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001892","HPO_Synonym__c":"Bleeding diathesis; Bleeding tendency; Hemorrhagic diathesis","HPO_Name__c":"Abnormal bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A purpuric lesion that is larger than 1 cm in diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031364","HPO_Synonym__c":"Ecchymoses","HPO_Name__c":"Ecchymosis","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the thoracic vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100711","HPO_Synonym__c":"Abnormality of the thoracic spine","HPO_Name__c":"Abnormal thoracic spine morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100764","HPO_Name__c":"Lymphangioma","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Very frequent (80-99%)","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:464329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003084","HPO_Synonym__c":"Fractures of the long bones; Increased long bone fracture rate","HPO_Name__c":"Recurrent long bone fractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the lung.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002088","HPO_Synonym__c":"Abnormality of lung structure; Abnormality of the lungs; Abnormally shaped lung; Unusual lung shape","HPO_Name__c":"Abnormal lung morphology","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the size of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000105","HPO_Synonym__c":"Enlarged kidney; Large kidneys; Nephromegaly; Renal enlargement","HPO_Name__c":"Enlarged kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A structural anomaly of the vessel that contains or conveys lymph fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100766","HPO_Synonym__c":"Abnormality of the lymphatic vessels","HPO_Name__c":"Abnormal lymphatic vessel morphology","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cyst of the pancreas that possess a lining of mucous epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001737","HPO_Synonym__c":"Pancreatic cysts","HPO_Name__c":"Pancreatic cysts","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040163","HPO_Synonym__c":"Abnormal shape of pelvis bone","HPO_Name__c":"Abnormal pelvis bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the form, structure, or size of the skeletal system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011842","HPO_Synonym__c":"Abnormality of skeletal morphology; Abnormally shaped skeletal","HPO_Name__c":"Abnormal skeletal morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000978","HPO_Synonym__c":"Bruisability; Bruise easily; Bruising susceptibility; Easy bruisability; Easy bruising","HPO_Name__c":"Bruising susceptibility","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any anomaly of the structure of the femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002823","HPO_Synonym__c":"Abnormality of femur morphology; Abnormality of the femora; Abnormality of the thighbone","HPO_Name__c":"Abnormal femur morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002086","HPO_Synonym__c":"Respiratory abnormality","HPO_Name__c":"Abnormality of the respiratory system","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the ischium, which forms the lower and back part of the hip bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003174","HPO_Synonym__c":"Abnormality of the ischial bones; Abnormality of the ischium; Anomaly of the ischium","HPO_Name__c":"Abnormal ischium morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000765","HPO_Synonym__c":"Abnormality of the chest; Abnormality of the thorax; Structural abnormality of the chest wall","HPO_Name__c":"Abnormal thorax morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of many cysts in the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005562","HPO_Synonym__c":"Multiple kidney cysts","HPO_Name__c":"Multiple renal cysts","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000464","HPO_Synonym__c":"Abnormality of the neck; Anomaly of the neck","HPO_Name__c":"Abnormality of the neck","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the number of circulating thrombocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001873","HPO_Synonym__c":"Low platelet count","HPO_Name__c":"Thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Accumulation of fluid within the pericardium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001698","HPO_Synonym__c":"Fluid around heart; Pericardial effusions","HPO_Name__c":"Pericardial effusion","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bleeding at irregular intervals.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100608","HPO_Synonym__c":"Abnormal uterus bleeding; Intermenstrual bleeding; Menstrual spotting","HPO_Name__c":"Metrorrhagia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100749","HPO_Synonym__c":"Chest pain; Thoracic pain","HPO_Name__c":"Chest pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100763","HPO_Name__c":"Abnormality of the lymphatic system","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012735","HPO_Synonym__c":"Cough; Coughing","HPO_Name__c":"Cough","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Simultaneous enlargement of the liver and spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001433","HPO_Synonym__c":"Enlarged liver and spleen","HPO_Name__c":"Hepatosplenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the sacral bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005107","HPO_Synonym__c":"Abnormality of the sacrum","HPO_Name__c":"Abnormal sacrum morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000421","HPO_Synonym__c":"Bloody nose; Frequent nosebleeds; Nasal hemorrhage; Nose bleed; Nose bleeding; Nosebleed","HPO_Name__c":"Epistaxis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of an excessive amount of fluid in the pleural cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002202","HPO_Synonym__c":"Fluid around lungs","HPO_Name__c":"Pleural effusion","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002797","HPO_Synonym__c":"Breakdown of bone; Increased bone resorption; Osteolytic defects of bones","HPO_Name__c":"Osteolysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002094","HPO_Synonym__c":"Abnormal breathing; Breathing difficulty; Difficult to breathe; Difficulty breathing; Shortness of breath; Trouble breathing","HPO_Name__c":"Dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002693","HPO_Synonym__c":"Abnormality of cranial base; Abnormality of the skull base","HPO_Name__c":"Abnormal skull base morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the scapula, also known as the shoulder blade.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000782","HPO_Synonym__c":"Abnormality of the shoulder blade","HPO_Name__c":"Abnormal scapula morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003546","HPO_Synonym__c":"Decreased ability to exercise; Inability to exercise; Low exercise endurance; Poor exercise tolerance","HPO_Name__c":"Exercise intolerance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002105","HPO_Synonym__c":"Coughing up blood","HPO_Name__c":"Hemoptysis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hemorrhage occurring between the dura mater and the skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100310","HPO_Synonym__c":"Epidural haematoma; Epidural hematoma; Extradural haematoma; Extradural hematoma","HPO_Name__c":"Epidural hemorrhage","Feature_System__c":"Nervous System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased concentration of fibrinogen in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011900","HPO_Synonym__c":"Low fibrinogen activity; Low fibrinogen level","HPO_Name__c":"Hypofibrinogenemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A tumor of the skin or mucous membrane with finger-like projections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012740","HPO_Name__c":"Papilloma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal morphology of vertebral body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003312","HPO_Synonym__c":"Abnormal vertebral bodies; Abnormally shaped vertebrae","HPO_Name__c":"Abnormal form of the vertebral bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Cancer","Congenital Abnormality"],"Specialist":["Vascular Medicine","Pediatrics"]},"synonyms":[""]}