{"Name":"POEMS syndrome","DiseaseID__c":"GARD:0007411","id":7411,"encodedName":"poems-syndrome","IsDeleted":false,"Disease_Name_Full__c":"POEMS syndrome","Xref_IDs__c":"79268002; C0085404; C80303; D016878; DOID:14039; MEDGEN:39276; MONDO:0017364; ORPHA:2905","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017364","Disease_Description__c":"POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels.","GARD_Name__c":"POEMS syndrome","GARD_Synonym__c":"crow-fukase syndrome; osteosclerotic myeloma; pep syndrome; poems - polyneuropathy organomegaly endocrinopathy monoclonal and skin changes; polyneuropathy organomegaly endocrinopathy monoclonal gammopathy and skin changes; polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome; polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes (poems) syndrome; polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes syndrome; takatsuki syndrome","Curated_Disease_Description_Source__c":"GARD:0007411","Curated_Disease_Description__c":"POEMS syndrome is a rare, mulitisystem disorder. POEMS stands for the disorder's features, which may include Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal gammopathy, and Skin changes. Signs and symptoms may include progressive sensorimotor polyneuropathy; enlarged liver, spleen, and/or lymph nodes; a disorder of the endocrine glands (often with multiple abnormalities); a monoclonal plasma cell proliferative disorder; and darkening of the skin (hyperpigmentation). Various other symptoms may also occur and may vary among affected people. The underlying cause of the disorder is not well understood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:2905","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017364","ORPHANET_ID__c":"ORPHA:2905","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de poems","Spanish_Description_Source__c":"ORPHA:2905","Spanish_Description__c":"Es un síndrome paraneoplásico caracterizado por polirradiculoneuropatía (P), organomegalia (O), endocrinopatía (E), trastorno de proliferación clonal de células plasmáticas (M) y cambios cutáneos (S). Otros hallazgos adicionales incluyen papiledema, sobrecarga de volumen extravascular, lesiones óseas escleróticas, trombocitosis/eritrocitosis y niveles elevados de VEGF.","Spanish_Disease_Name__c":"síndrome de poems","Spanish_GARD_Synonym__c":"síndrome de crow-fukase","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":"POEMS syndrome is a rare, mulitisystem disorder. POEMS stands for the disorder's features, which may include Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal gammopathy, and Skin changes. Signs and symptoms may include progressive sensorimotor polyneuropathy; enlarged liver, spleen, and/or lymph nodes; a disorder of the endocrine glands (often with multiple abnormalities); a monoclonal plasma cell proliferative disorder; and darkening of the skin (hyperpigmentation). Various other symptoms may also occur and may vary among affected people. The underlying cause of the disorder is not well understood.","Curated_Disease_Description_Source__c":"GARD:0007411","GARD_Synonym__c":"crow-fukase syndrome; osteosclerotic myeloma; pep syndrome; poems - polyneuropathy organomegaly endocrinopathy monoclonal and skin changes; polyneuropathy organomegaly endocrinopathy monoclonal gammopathy and skin changes; polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome; polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes (poems) syndrome; polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes syndrome; takatsuki syndrome","Name":"POEMS syndrome","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Autoimmune Registry","Website__c":"https://www.autoimmuneregistry.org/"},{"Account_Name__c":"Global Autoimmune Institute","Website__c":"https://www.autoimmuneinstitute.org/"},{"Account_Name__c":"Smart Patients","Website__c":"https://www.smartpatients.com/"},{"Account_Name__c":"Autoimmune Association","Website__c":"https://autoimmune.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"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":"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":"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":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:2905"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:2905"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2905","Source__c":"C0085404; MONDO:0017364; ORPHA:2905","Xref__c":"ORPHA:2905"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=79268002","Source__c":"C0085404; MONDO:0017364","Xref__c":"79268002"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C80303","Source__c":"C0085404; MONDO:0017364","Xref__c":"C80303"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C016878","Source__c":"C0085404; MONDO:0017364","Xref__c":"D016878"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14039","Source__c":"MONDO:0017364","Xref__c":"DOID:14039"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=39276","Source__c":"C0085404","Xref__c":"MEDGEN:39276"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0085404","Source__c":"C0085404","Xref__c":"C0085404"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017364","Source__c":"GARD:0007411","Xref__c":"MONDO:0017364"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002091","HPO_Synonym__c":"Restrictive deficit on pulmonary function testing; Restrictive deficit on pulmonary function tests; Restrictive respiratory disease; Restrictive respiratory insufficiency; Restrictive respiratory syndrome; Spirometric restriction; Stiff lung or chest wall causing decreased lung volume","HPO_Name__c":"Restrictive ventilatory defect","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A histologically distinctive, cutaneous, benign vascular tumor that is characterized by a solitary or multiple blue-red papules and histologically resembles renal glomeruli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031357","HPO_Name__c":"Glomeruloid hemangioma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Laminar thickening of skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001072","HPO_Synonym__c":"Pachydermia; Thick skin; Thickened skin","HPO_Name__c":"Thickened skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased blood concentration of vascular endothelial growth factor (VEGF).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031052","HPO_Synonym__c":"Elevated circulating VEGF concentration","HPO_Name__c":"Elevated vascular endothelial growth factor level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Frequent (30-79%)","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:2905","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001901","HPO_Synonym__c":"Abnormally shaped erythrocytes; Erythrocytosis; Increased red blood cells; Polyglobulia","HPO_Name__c":"Polycythemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003401","HPO_Synonym__c":"Paresthesias; Pins and needles feeling; Tingling","HPO_Name__c":"Paresthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Degenerative changes of the fat tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009125","HPO_Synonym__c":"Inability to make and keep healthy fat tissue","HPO_Name__c":"Lipodystrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased bone density of the skull base without significant changes in bony contour.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002694","HPO_Synonym__c":"Dense bone of skull base; Hyperossification of skull base; Hyperostosis of skull base; Marked sclerosis of skull base; Sclerosis of cranial base; Sclerosis of the skull base; Sclerotic skull base","HPO_Name__c":"Sclerosis of skull base","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the endocrine system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000818","HPO_Name__c":"Abnormality of the endocrine system","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002747","HPO_Synonym__c":"Decreased lung function due to weak breathing muscles; Decreased respiratory function due to muscle weakness; Respiratory distress due to muscle weakness; Respiratory failure due to muscle weakness; Respiratory muscle weakness","HPO_Name__c":"Respiratory insufficiency due to muscle weakness","Feature_System__c":"Musculoskeletal System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000969","HPO_Synonym__c":"Dropsy; Fluid retention; Hydrops; Oedema; Water retention","HPO_Name__c":"Edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Enlargement (swelling) of a lymph node.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002716","HPO_Synonym__c":"Lymph node hyperplasia; Swollen lymph nodes","HPO_Name__c":"Lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"White discoloration of the nails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001820","HPO_Synonym__c":"White discoloration of nails","HPO_Name__c":"Leukonychia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased numbers of platelets in the peripheral blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001894","HPO_Synonym__c":"Increased number of platelets in blood; Increased platelet count","HPO_Name__c":"Thrombocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the physiological function of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011122","HPO_Synonym__c":"Abnormality of skin physiology","HPO_Name__c":"Abnormality of skin physiology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal development of large mammary glands in males resulting in breast enlargement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000771","HPO_Synonym__c":"Enlarged male breast; Gynaecomastia","HPO_Name__c":"Gynecomastia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the viscera of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003271","HPO_Name__c":"Visceromegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001028","HPO_Synonym__c":"Strawberry mark","HPO_Name__c":"Hemangioma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004936","HPO_Synonym__c":"Blood clot in vein","HPO_Name__c":"Venous thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bluish discoloration of the skin of the hands or feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001063","HPO_Synonym__c":"Persistent blue color of hands or feet","HPO_Name__c":"Acrocyanosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The formation of a blood clot inside an artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004420","HPO_Synonym__c":"Blood clot in artery","HPO_Name__c":"Arterial thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100639","HPO_Synonym__c":"Abnormal erection; Erectile abnormalities","HPO_Name__c":"Erectile dysfunction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Deficiency of thyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000821","HPO_Synonym__c":"Low T4; Underactive thyroid","HPO_Name__c":"Hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002092","HPO_Synonym__c":"Increased blood pressure in blood vessels of lungs; Pulmonary artery hypertension","HPO_Name__c":"Pulmonary arterial hypertension","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001284","HPO_Synonym__c":"Absent deep tendon reflexes; Absent tendon reflexes; Deep tendon reflexes absent; Loss of deep tendon reflexes; Lost deep tendon reflexes","HPO_Name__c":"Areflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100963","HPO_Synonym__c":"Hyperaesthesia","HPO_Name__c":"Hyperesthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A darkening of the skin related to an increase in melanin production and deposition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000953","HPO_Synonym__c":"Cutaneous hyperpigmentation; Hyperpigmented lesion; Increased skin pigmentation; Patchy darkened skin; Skin hyperpigmentation","HPO_Name__c":"Hyperpigmentation of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased functionality of the gonad.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000135","HPO_Synonym__c":"Decreased activity of gonads","HPO_Name__c":"Hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005523","HPO_Name__c":"Lymphoproliferative disorder","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased density of metaphyseal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004979","HPO_Synonym__c":"Increased bone density in wide portion of long bone; Sclerotic metaphyses","HPO_Name__c":"Metaphyseal sclerosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","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:2905","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008207","HPO_Synonym__c":"Adrenocortical insufficiency; Primary adrenocortical failure","HPO_Name__c":"Primary adrenal insufficiency","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100925","HPO_Synonym__c":"Increased bone density in foot bone; Sclerosis of bones of the feet","HPO_Name__c":"Sclerosis of foot bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypertrichosis is increased hair growth that is abnormal in quantity or location.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000998","HPO_Name__c":"Hypertrichosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Frequent (30-79%)","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:2905","HPO_Frequency__c":"Frequent (30-79%)","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; 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Clubbing (hands); Clubbing of fingers; Finger clubbing","HPO_Name__c":"Clubbing of fingers","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased level of gamma globulin (immunoglobulin) in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010702","HPO_Synonym__c":"Elevated immunoglobulin levels; Hypergammaglobulinaemia; Hypergammaglobulinemia; Increased antibody level in blood; Increased circulating antibody concentration; Increased circulating antibody level; Increased gamma globulin; Increased immunoglobulin level; Increased serum gamma globulin; Raised immunoglobulin levels","HPO_Name__c":"Increased circulating immunoglobulin concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A group of abnormalities characterized by hyperglycemia and glucose intolerance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000819","HPO_Name__c":"Diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001085","HPO_Name__c":"Papilledema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Osteosclerosis affecting one or more bones of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004054","HPO_Synonym__c":"Generalized sclerosis of hand bones; Hand bone sclerosis; Increased bone density in hand bone; Increased bone density in hand bones","HPO_Name__c":"Sclerosis of hand bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A generalized disorder of peripheral nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001271","HPO_Synonym__c":"Peripheral nerve disease","HPO_Name__c":"Polyneuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001050","HPO_Name__c":"Plethora","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2905","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000870","HPO_Synonym__c":"Hyperprolactinaemia; Hyperprolactinemia; Prolactin excess","HPO_Name__c":"Increased circulating prolactin concentration","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Neurology","Hematology","Neuromuscular medicine"],"Disease Category":["Cancer","Neurology","Hematology"],"Account":["Peripheral Neuropathy"]},"synonyms":["crow-fukase syndrome"," osteosclerotic myeloma"," pep syndrome"," poems - polyneuropathy organomegaly endocrinopathy monoclonal and skin changes"," polyneuropathy organomegaly endocrinopathy monoclonal gammopathy and skin changes"," polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome"," polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes (poems) syndrome"," polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes syndrome"," takatsuki syndrome"]}