{"Name":"Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome","DiseaseID__c":"GARD:0010467","id":10467,"encodedName":"multifocal-lymphangioendotheliomatosis-thrombocytopenia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome","Xref_IDs__c":"C5575322; C60672; MEDGEN:1804470; MONDO:0018735; ORPHA:464321","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":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018735","Disease_Description__c":"Human MALT1 wild-type allele is located in the vicinity of 18q21 and is approximately 79 kb in length. This allele, which encodes mucosa associated lymphoid tissue lymphoma translocation gene 1 protein, plays a role in the modulation of the nuclear factor kappa B complex signaling cascade. The gene is involved in a chromosomal translocation t(11;18)(q21;q21) with the BIRC2 gene in mucosa-associated lymphoid tissue lymphomas.","GARD_Name__c":"Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome","GARD_Synonym__c":"cutaneovisceral angiomatosis-thrombocytopenia syndrome; cutaneovisceral angiomatosis, thrombocytopenia syndrome; dkfzp434l132; malt1 wt allele; mlt; mlt - multifocal lymphangioendotheliomatosis with thrombocytopenia; mlt1; mucosa associated lymphoid tissue lymphoma translocation gene 1 wt allele; multifocal lymphangioendotheliomatosis with thrombocytopenia; multifocal lymphangioendotheliomatosis, thrombocytopenia syndrome","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome is a rare condition that affects the lymphatic system. It causes abnormal growths in the blood vessels of the skin, digestive system, and sometimes other parts of the body. These growths can be life-threatening because they can cause problems with blood clotting. The growths look like red-brown patches that can be a few centimeters wide.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:464321","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018735","ORPHANET_ID__c":"ORPHA:464321","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de linfangioendoteliomatosis multifocal-trombocitopenia","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de linfangioendoteliomatosis multifocal-trombocitopenia","Spanish_GARD_Synonym__c":"linfangioendoteliomatosis multifocal con trombocitopenia; mlt; síndrome de angiomatosis cutáneo-visceral-trombocitopenia","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":"Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome is a rare condition that affects the lymphatic system. It causes abnormal growths in the blood vessels of the skin, digestive system, and sometimes other parts of the body. These growths can be life-threatening because they can cause problems with blood clotting. The growths look like red-brown patches that can be a few centimeters wide.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"cutaneovisceral angiomatosis-thrombocytopenia syndrome; cutaneovisceral angiomatosis, thrombocytopenia syndrome; dkfzp434l132; malt1 wt allele; mlt; mlt - multifocal lymphangioendotheliomatosis with thrombocytopenia; mlt1; mucosa associated lymphoid tissue lymphoma translocation gene 1 wt allele; multifocal lymphangioendotheliomatosis with thrombocytopenia; multifocal lymphangioendotheliomatosis, thrombocytopenia syndrome","Name":"Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Platelet Disorder Support Association","Website__c":"https://www.pdsa.org/"},{"Account_Name__c":"National Organization of Vascular Anomalies","Website__c":"https://www.novanews.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":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood 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 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":"Infancy","Provided_By__c":"ORPHA:464321"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:464321"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C60672","Source__c":"MONDO:0018735","Xref__c":"C60672"},{"URL__c":"https://www.orpha.net/en/disease/detail/464321","Source__c":"C5575322; MONDO:0018735; ORPHA:464321","Xref__c":"ORPHA:464321"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5575322","Source__c":"C5575322","Xref__c":"C5575322"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1804470","Source__c":"C5575322","Xref__c":"MEDGEN:1804470"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018735","Source__c":"GARD:0010467","Xref__c":"MONDO:0018735"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1208725005","Source__c":"C5575322","Xref__c":"1208725005"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Occasional (5-29%)","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:464321","HPO_Frequency__c":"Frequent (30-79%)","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:464321","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the cortex of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011035","HPO_Synonym__c":"Abnormality of renal cortex morphology","HPO_Name__c":"Abnormal renal cortex morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025420","HPO_Name__c":"Diffuse alveolar hemorrhage","Feature_System__c":"Cardiovascular System; Respiratory system; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009830","HPO_Synonym__c":"Peripheral nerve damage; Peripheral neuritis","HPO_Name__c":"Peripheral neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Occasional (5-29%)","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:464321","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Bleeding occurring within a muscle","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040242","HPO_Synonym__c":"Intramuscular hemorrhage","HPO_Name__c":"Muscle hemorrhage","Feature_System__c":"Musculoskeletal System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001639","HPO_Synonym__c":"Cardiomyopathy, hypertrophic; Enlarged and thickened heart muscle; HCM","HPO_Name__c":"Hypertrophic cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The vomiting of blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002248","HPO_Synonym__c":"Vomiting blood","HPO_Name__c":"Hematemesis","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the eye, including location, spacing, and intraocular abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000478","HPO_Synonym__c":"Abnormal eye; Abnormality of the eye","HPO_Name__c":"Abnormality of the eye","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009139","HPO_Name__c":"Osteolysis involving bones of the lower limbs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045039","HPO_Name__c":"Osteolysis involving bones of the upper limbs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025474","HPO_Name__c":"Erythematous plaque","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Sleep apnea results from a temporary loss of the central drive to the muscles responsible for breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010536","HPO_Synonym__c":"Central sleep apnoea","HPO_Name__c":"Central sleep apnea","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001392","HPO_Synonym__c":"Abnormal liver; Abnormality of the liver; Liver abnormality","HPO_Name__c":"Abnormality of the liver","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hemorrhage occurring within the skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002170","HPO_Synonym__c":"Bleeding within the skull","HPO_Name__c":"Intracranial hemorrhage","Feature_System__c":"Nervous System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030350","HPO_Name__c":"Erythematous papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000759","HPO_Synonym__c":"Abnormal peripheral nervous system structure","HPO_Name__c":"Abnormal peripheral nervous system morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A hole (perforation) in the wall of the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031368","HPO_Name__c":"Intestinal perforation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Occasional (5-29%)","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:464321","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Bleeding in the thalamus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025064","HPO_Synonym__c":"Thalamic hemorrhage","HPO_Name__c":"Thalamic hemorrhage","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Very frequent (80-99%)","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:464321","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003304","HPO_Name__c":"Spondylolysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000077","HPO_Synonym__c":"Abnormal kidney; Abnormality of the kidney; Renal anomalies; Renal anomaly","HPO_Name__c":"Abnormality of the kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002249","HPO_Name__c":"Melena","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Bleeding within the vitreous compartment of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007902","HPO_Name__c":"Vitreous hemorrhage","Feature_System__c":"Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the central nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002011","HPO_Synonym__c":"Abnormality of the central nervous system; Morphological abnormality of the central nervous system; Morphological abnormality of the CNS","HPO_Name__c":"Morphological central nervous system abnormality","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal structure of the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012718","HPO_Synonym__c":"Abnormal shape of the digestive system; Morphological abnormality of the gastrointestinal tract; Morphological abnormality of the GI tract; Morphological anomaly of the digestive system","HPO_Name__c":"Abnormal gastrointestinal tract morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usually between the L1 and L2 lumbar vertebrae).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031938","HPO_Synonym__c":"Abnormal conus medullaris morphology","HPO_Name__c":"Abnormal conus terminalis morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of calcium deposition within the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002514","HPO_Synonym__c":"Abnormal deposits of calcium in the brain","HPO_Name__c":"Cerebral calcification","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hemorrhage into the parenchyma of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001342","HPO_Synonym__c":"Bleeding in brain; Intracerebral hemorrhage","HPO_Name__c":"Cerebral hemorrhage","Feature_System__c":"Nervous System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Passage of many stools containing blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025085","HPO_Synonym__c":"Bloody bowel movement; Bloody diarrhea","HPO_Name__c":"Bloody diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012758","HPO_Synonym__c":"NDD","HPO_Name__c":"Neurodevelopmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Abnormality of the basal ganglia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002134","HPO_Synonym__c":"Abnormality of the basal ganglia; Anomaly of the basal ganglia; Basal ganglia disease","HPO_Name__c":"Abnormal basal ganglia morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Bleeding located within the retina. Retinal hemorrhages range from the smallest dot and blot hemorrhage to massive sub-hyaloid hemorrhage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000573","HPO_Synonym__c":"Retinal bleeding; Retinal hemorrhages","HPO_Name__c":"Retinal hemorrhage","Feature_System__c":"Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001541","HPO_Synonym__c":"Accumulation of fluid in the abdomen; Peritoneal effusion","HPO_Name__c":"Ascites","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hemorrhage affecting the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002239","HPO_Synonym__c":"Gastrointestinal bleeding; GI hemorrhage","HPO_Name__c":"Gastrointestinal hemorrhage","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001627","HPO_Synonym__c":"Abnormality of cardiac morphology; Abnormality of the heart; Abnormally shaped heart; Cardiac abnormality; Cardiac anomalies; Cardiac anomaly; Congenital heart defect; Congenital heart defects; Heart defect","HPO_Name__c":"Abnormal heart morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any morphological abnormality of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011121","HPO_Synonym__c":"Abnormal skin morphology; Abnormal skin structure; Abnormality of skin morphology","HPO_Name__c":"Abnormal skin morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002573","HPO_Synonym__c":"Rectal bleeding","HPO_Name__c":"Hematochezia","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Uncommon (<1-4%)","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:464321","HPO_Frequency__c":"Frequent (30-79%)","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:464321","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003273","HPO_Synonym__c":"Flexion contracture of hips; Flexion contractures of hips; Hip contractures; Hip flexion contractures","HPO_Name__c":"Hip contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025015","HPO_Name__c":"Abnormal vascular morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased amount of bilirubin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002904","HPO_Synonym__c":"High blood bilirubin levels","HPO_Name__c":"Hyperbilirubinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:464321","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Cancer","Hematology","Congenital Abnormality"],"Specialist":["Hematology","Vascular Medicine","Pediatrics"]},"synonyms":["cutaneovisceral angiomatosis-thrombocytopenia syndrome"," cutaneovisceral angiomatosis, thrombocytopenia syndrome"," dkfzp434l132"," malt1 wt allele"," mlt"," mlt - multifocal lymphangioendotheliomatosis with thrombocytopenia"," mlt1"," mucosa associated lymphoid tissue lymphoma translocation gene 1 wt allele"," multifocal lymphangioendotheliomatosis with thrombocytopenia"," multifocal lymphangioendotheliomatosis, thrombocytopenia syndrome"]}