{"Name":"Pseudomyxoma peritonei","DiseaseID__c":"GARD:0007488","id":7488,"encodedName":"pseudomyxoma-peritonei","IsDeleted":false,"Disease_Name_Full__c":"Pseudomyxoma peritonei","Xref_IDs__c":"112679004; 307601000; C0033822; C3345; D011553; DOID:3559; MEDGEN:18726; MONDO:0017048; ORPHA:26790","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":1,"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":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0017048","Disease_Description__c":"Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis.","GARD_Name__c":"Pseudomyxoma peritonei","GARD_Synonym__c":"adenomucinosis; gelatinous ascites; mucinous ascites; myxoma peritonei; peritoneal cavity pseudomyxoma peritonei; pmp; pseudomyxoma peritonei (morphologic abnormality); well differentiated peritoneal mucinous adenocarcinoma","Curated_Disease_Description_Source__c":"GARD:0007488","Curated_Disease_Description__c":"Pseudomyxoma peritonei (PMP) is a rare disease characterized by the presence of mucin in the abdominal (peritoneal) cavity. While the most common cause of PMP is appendix cancer, several types of tumors (including non-cancerous tumors) can cause PMP. Signs and symptoms may include an increase in abdominal size or bloating; inguinal hernia (in men); an ovarian mass that may be felt during a routine pelvic exam (in women); pain or discomfort in the abdomen; and/or appendicitis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:26790","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017048","ORPHANET_ID__c":"ORPHA:26790","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Pseudomixoma peritoneal","Spanish_Description_Source__c":"ORPHA:26790","Spanish_Description__c":"El pseudomixoma peritoneal se caracteriza por la presencia de tumores mucinosos intraperitoneales diseminados y de ascitis mucinosa en el abdomen y la pelvis.","Spanish_Disease_Name__c":"pseudomixoma peritoneal","Spanish_GARD_Synonym__c":"adenomucinosis; ascitis gelatinosa; pmp","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":"Pseudomyxoma peritonei (PMP) is a rare disease characterized by the presence of mucin in the abdominal (peritoneal) cavity. While the most common cause of PMP is appendix cancer, several types of tumors (including non-cancerous tumors) can cause PMP. Signs and symptoms may include an increase in abdominal size or bloating; inguinal hernia (in men); an ovarian mass that may be felt during a routine pelvic exam (in women); pain or discomfort in the abdomen; and/or appendicitis.","Curated_Disease_Description_Source__c":"GARD:0007488","GARD_Synonym__c":"adenomucinosis; gelatinous ascites; mucinous ascites; myxoma peritonei; peritoneal cavity pseudomyxoma peritonei; pmp; pseudomyxoma peritonei (morphologic abnormality); well differentiated peritoneal mucinous adenocarcinoma","Name":"Pseudomyxoma peritonei","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"PMP Pals Network","Website__c":"https://pmppals.net/"},{"Account_Name__c":"Appendix Cancer/Pseudomyxoma Peritonei Research Foundation","Website__c":"https://acpmp.org/"},{"Account_Name__c":"Pseudomyxoma Survivor","Website__c":"https://www.pseudomyxomasurvivor.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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:26790"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/26790","Source__c":"C0033822; MONDO:0017048; ORPHA:26790","Xref__c":"ORPHA:26790"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C011553","Source__c":"C0033822; MONDO:0017048","Xref__c":"D011553"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3345","Source__c":"C0033822; MONDO:0017048","Xref__c":"C3345"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=18726","Source__c":"C0033822","Xref__c":"MEDGEN:18726"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=307601000","Source__c":"C0033822; MONDO:0017048","Xref__c":"307601000"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0033822","Source__c":"C0033822","Xref__c":"C0033822"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A3559","Source__c":"MONDO:0017048","Xref__c":"DOID:3559"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017048","Source__c":"GARD:0007488","Xref__c":"MONDO:0017048"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0040414","Source__c":"C0033822","Xref__c":"HP:0040414"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=112679004","Source__c":"C0033822","Xref__c":"112679004"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:26790","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005214","HPO_Synonym__c":"Bowel obstruction; Intestinal blockage; Intestinal obstruction","HPO_Name__c":"Intestinal obstruction","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:26790","HPO_Frequency__c":"Occasional (5-29%)","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:26790","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002017","HPO_Synonym__c":"Nausea and vomiting","HPO_Name__c":"Nausea and vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:26790","HPO_Frequency__c":"Very frequent (80-99%)","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:26790","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:26790","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation, or an inflammatory state in the large intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002037","HPO_Synonym__c":"Inflammation of the large intestine","HPO_Name__c":"Inflammation of the large intestine","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:26790","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of any abnormality affecting the abdominal wall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004298","HPO_Synonym__c":"Abnormality of external features of the abdomen; Abnormality of the abdominal wall","HPO_Name__c":"Abnormal abdominal wall morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:26790","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:26790","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the peritoneum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002585","HPO_Synonym__c":"Abnormality of the peritoneum","HPO_Name__c":"Abnormal peritoneum morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:26790","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:26790","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100790","HPO_Name__c":"Hernia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:26790","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Infrequent or difficult evacuation of feces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002019","HPO_Synonym__c":"Constipation; Costiveness; Dyschezia","HPO_Name__c":"Constipation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist"],"Disease Category":["Cancer"]},"synonyms":["adenomucinosis"," gelatinous ascites"," mucinous ascites"," myxoma peritonei"," peritoneal cavity pseudomyxoma peritonei"," pmp"," pseudomyxoma peritonei (morphologic abnormality)"," well differentiated peritoneal mucinous adenocarcinoma"],"spanishId":13458,"spanishName":"pseudomixoma-peritoneal"}