{"Name":"Familial multiple polyposis syndrome","DiseaseID__c":"GARD:0006408","id":6408,"encodedName":"familial-multiple-polyposis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Familial multiple polyposis syndrome","Xref_IDs__c":"72900001; C0032580; C3339; DOID:0050424; MEDGEN:46010; MONDO:0021055; OMIMPS:175100; ORPHA:733","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0021055","Disease_Description__c":"Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life.","GARD_Name__c":"Familial multiple polyposis syndrome","GARD_Synonym__c":"adenomatous polyposis; adenomatous polyposis coli; adenomatous polyposis of the colon; apc - adenomatous polyposis coli; classic familial adenomatous polyposis; classic fap; colorectal adenomatous polyposis; familial adenomatous polyposis; familial adenomatous polyposis coli; familial adenomatous polyposis syndrome; familial intestinal polyposis; familial polyposis; familial polyposis coli; fap; fap - familial adenomatous polyposis; fpc - familial polyposis coli; hereditary adenomatous polyposis coli; map - myh associated polyposis; myh-associated polyposis; polyposis coli","Curated_Disease_Description_Source__c":"GARD:0006408","Curated_Disease_Description__c":"Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps) in the colon as early as their teenage years. Unless the colon is removed, these polyps will become malignant (cancerous). The average age at which an individual develops colon cancer in classic familial adenomatous polyposis is 39 years. Some people have a variant of the disorder, called attenuated familial adenomatous polyposis, in which polyp growth is delayed. The average age of colorectal cancer onset for attenuated familial adenomatous polyposis is 55 years.  A milder type of familial adenomatous polyposis, called autosomal recessive familial adenomatous polyposis, has also been identified. People with the autosomal recessive type of this disorder have fewer polyps than those with the classic type. Fewer than 100 polyps typically develop, rather than hundreds or thousands. The autosomal recessive type of this disorder is caused by mutations in a different gene than the classic and attenuated types of familial adenomatous polyposis.  In people with classic familial adenomatous polyposis, the number of polyps increases with age, and hundreds to thousands of polyps can develop in the colon. Also of particular significance are noncancerous growths called desmoid tumors. These fibrous tumors usually occur in the tissue covering the intestines and may be provoked by surgery to remove the colon. Desmoid tumors tend to recur after they are surgically removed. In both classic familial adenomatous polyposis and its attenuated variant, benign and malignant tumors are sometimes found in other places in the body, including the duodenum (a section of the small intestine), stomach, bones, skin, and other tissues. People who have colon polyps as well as growths outside the colon are sometimes described as having Gardner syndrome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:733","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0021055","ORPHANET_ID__c":"ORPHA:733","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Poliposis adenomatosa familiar","Spanish_Description_Source__c":"ORPHA:733","Spanish_Description__c":"La poliposis adenomatosa familiar (PAF) se caracteriza por la aparición, en la segunda década de vida, de cientos o miles de adenomas en la zona del recto y del colon.","Spanish_Disease_Name__c":"poliposis adenomatosa familiar","Spanish_GARD_Synonym__c":"paf; poliposis adenomatosa coli; poliposis adenomatosa colorrectal","Category_Linearization__c":"ORPHA:97935","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":"Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps) in the colon as early as their teenage years. Unless the colon is removed, these polyps will become malignant (cancerous). The average age at which an individual develops colon cancer in classic familial adenomatous polyposis is 39 years. Some people have a variant of the disorder, called attenuated familial adenomatous polyposis, in which polyp growth is delayed. The average age of colorectal cancer onset for attenuated familial adenomatous polyposis is 55 years.  A milder type of familial adenomatous polyposis, called autosomal recessive familial adenomatous polyposis, has also been identified. People with the autosomal recessive type of this disorder have fewer polyps than those with the classic type. Fewer than 100 polyps typically develop, rather than hundreds or thousands. The autosomal recessive type of this disorder is caused by mutations in a different gene than the classic and attenuated types of familial adenomatous polyposis.  In people with classic familial adenomatous polyposis, the number of polyps increases with age, and hundreds to thousands of polyps can develop in the colon. Also of particular significance are noncancerous growths called desmoid tumors. These fibrous tumors usually occur in the tissue covering the intestines and may be provoked by surgery to remove the colon. Desmoid tumors tend to recur after they are surgically removed. In both classic familial adenomatous polyposis and its attenuated variant, benign and malignant tumors are sometimes found in other places in the body, including the duodenum (a section of the small intestine), stomach, bones, skin, and other tissues. People who have colon polyps as well as growths outside the colon are sometimes described as having Gardner syndrome.","Curated_Disease_Description_Source__c":"GARD:0006408","GARD_Synonym__c":"adenomatous polyposis; adenomatous polyposis coli; adenomatous polyposis of the colon; apc - adenomatous polyposis coli; classic familial adenomatous polyposis; classic fap; colorectal adenomatous polyposis; familial adenomatous polyposis; familial adenomatous polyposis coli; familial adenomatous polyposis syndrome; familial intestinal polyposis; familial polyposis; familial polyposis coli; fap; fap - familial adenomatous polyposis; fpc - familial polyposis coli; hereditary adenomatous polyposis coli; map - myh associated polyposis; myh-associated polyposis; polyposis coli","Name":"Familial multiple polyposis syndrome","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"FORCE: Facing Our Risk of Cancer Empowered","Website__c":"https://www.facingourrisk.org/"},{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"Fight Colorectal Cancer","Website__c":"https://fightcolorectalcancer.org/"},{"Account_Name__c":"Colon Cancer Alliance","Website__c":"https://www.ccalliance.org/"},{"Account_Name__c":"Cancer Hope Network","Website__c":"https://www.cancerhopenetwork.org/"},{"Account_Name__c":"The J-Pouch Group","Website__c":"https://www.j-pouch.org/home"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:733"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0032580"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1345","Source__c":"Gene Review","Xref__c":"NBK1345"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS175100","Source__c":"MONDO:0021055","Xref__c":"OMIMPS:175100"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=46010","Source__c":"C0032580","Xref__c":"MEDGEN:46010"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050424","Source__c":"MONDO:0021055","Xref__c":"DOID:0050424"},{"URL__c":"https://www.orpha.net/en/disease/detail/733","Source__c":"C0032580; MONDO:0021055; ORPHA:733","Xref__c":"ORPHA:733"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0032580","Source__c":"C0032580","Xref__c":"C0032580"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=72900001","Source__c":"C0032580; MONDO:0021055","Xref__c":"72900001"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3339","Source__c":"C0032580; MONDO:0021055","Xref__c":"C3339"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C011125","Source__c":"C0032580","Xref__c":"D011125"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0021055","Source__c":"GARD:0006408","Xref__c":"MONDO:0021055"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=423471004","Source__c":"C0032580","Xref__c":"423471004"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=70921007","Source__c":"C0032580","Xref__c":"70921007"},{"URL__c":"https://medlineplus.gov/genetics/condition/familial-adenomatous-polyposis"}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A lesion of the skin that is located in a specific region rather than being generalized.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011355","HPO_Synonym__c":"Localized skin lesion","HPO_Name__c":"Localized skin lesion","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Inflammation of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100646","HPO_Synonym__c":"Thyroid gland inflammation","HPO_Name__c":"Thyroiditis","Feature_System__c":"Endocrine System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002884","HPO_Name__c":"Hepatoblastoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an odontoma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011068","HPO_Name__c":"Odontoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of inflammation in the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001733","HPO_Synonym__c":"Pancreatic inflammation","HPO_Name__c":"Pancreatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An enlargement of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000853","HPO_Synonym__c":"Enlarged thyroid gland in neck; Thyroid goiter","HPO_Name__c":"Goiter","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100246","HPO_Name__c":"Osteoma","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A malignant epithelial tumor with a glandular organization that originates in the duodenum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006771","HPO_Name__c":"Duodenal adenocarcinoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of an adenocarcinoma of the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006725","HPO_Name__c":"Pancreatic adenocarcinoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000820","HPO_Synonym__c":"Abnormality of the thyroid gland; Thyroid abnormality","HPO_Name__c":"Abnormality of the thyroid gland","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of one or more teeth additional to the normal number.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011069","HPO_Synonym__c":"Extra teeth; Hyperdontia; Increased number of teeth; Increased tooth count; Supernumerary teeth; Supplemental dentition; Supplemental teeth; Tooth, supernumerary","HPO_Name__c":"Supernumerary tooth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009592","HPO_Name__c":"Astrocytoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031459","HPO_Name__c":"Soft tissue neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presence of multiple polyps in the duodenum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004783","HPO_Synonym__c":"Multiple duodenal polyps","HPO_Name__c":"Duodenal polyposis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A cancer arising in any part of the stomach.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012126","HPO_Synonym__c":"Gastric cancer","HPO_Name__c":"Stomach cancer","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Obstruction affecting the biliary tree.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005230","HPO_Name__c":"Biliary tract obstruction","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A benign or malignant neoplasm that arises from or metastasizes to the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030692","HPO_Synonym__c":"Brain tumor","HPO_Name__c":"Brain neoplasm","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A malignant epithelial tumor with a glandular organization that originates in the small intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040274","HPO_Name__c":"Adenocarcinoma of the small intestine","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Angiofibroma consist of many often dilated vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010615","HPO_Name__c":"Angiofibromas","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the adrenal gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100631","HPO_Synonym__c":"Adrenal neoplasia","HPO_Name__c":"Neoplasm of the adrenal gland","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a papillary adenocarcinoma of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002895","HPO_Synonym__c":"Papillary carcinoma of thyroid; Thyroid papillary carcinoma","HPO_Name__c":"Papillary thyroid carcinoma","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. 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A central, dark comedone opening (punctum) may be present.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200040","HPO_Synonym__c":"Epidermal cyst; Epidermal inclusion cyst; Infundibular cyst; Keratin cyst","HPO_Name__c":"Epidermoid cyst","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a neoplasm of the gallbladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100575","HPO_Name__c":"Neoplasm of the gallbladder","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium. It can be solitary, clustered or multifocal, uni- or bilateral.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007649","HPO_Name__c":"Congenital hypertrophy of retinal pigment epithelium","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003003","HPO_Synonym__c":"Colon cancer","HPO_Name__c":"Colon cancer","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term \\\"fibroblastic\\\" or \\\"fibromatous\\\" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010614","HPO_Name__c":"Fibroma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Uncommon (<1-4%)","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:733","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002885","HPO_Name__c":"Medulloblastoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002893","HPO_Synonym__c":"Noncancerous tumor in pituitary gland; Pituitary gland adenoma","HPO_Name__c":"Pituitary adenoma","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000706","HPO_Synonym__c":"Failure of eruption of tooth; Pseudo-anodontia; Pseudoanodontia; Unerupted tooth","HPO_Name__c":"Eruption failure","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200063","HPO_Synonym__c":"Colorectal polyps","HPO_Name__c":"Colorectal polyposis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of an ependymoma of the central nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002888","HPO_Name__c":"Ependymoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Presence of multiple adenomatous polyps in the colon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005227","HPO_Synonym__c":"Multiple adenomatous colon polyps; Multiple colonic adenomatous polyps","HPO_Name__c":"Adenomatous colonic polyposis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100245","HPO_Synonym__c":"Desmoid tumors","HPO_Name__c":"Gastrointestinal desmoid tumor","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the cementum, which is the mineralized connective tissue covering the dental root. The cementum allows anchoring of the fibers of the periodontal ligament. Cementum is secreted by cementoblasts, which may be, later on, embedded in the cementum. Cementum can be acellular (along the two third coronal portion of the root) and cellular (in the apical and interradicular part of the root).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100717","HPO_Synonym__c":"Abnormality of the cementum","HPO_Name__c":"Abnormal cementum morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030153","HPO_Synonym__c":"Bile duct cancer","HPO_Name__c":"Cholangiocarcinoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000164","HPO_Synonym__c":"Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies","HPO_Name__c":"Abnormality of the dentition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007378","HPO_Synonym__c":"Gastrointestinal tract neoplasia; Gastrointestinal tract neoplasm; Gastrointestinal tract tumor; GI tract tumor; Neoplasm of the GI tract","HPO_Name__c":"Neoplasm of the gastrointestinal tract","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004394","HPO_Name__c":"Multiple gastric polyps","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Frequent (30-79%)","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"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030434","HPO_Name__c":"Pilomatrixoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Adrenocortical adenomas are benign tumors of the adrenal cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008256","HPO_Synonym__c":"Adrenocortical adenomas","HPO_Name__c":"Adrenocortical adenoma","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A nodular lesion that develops in the thyroid gland. The term \\\"thyroid nodule\\\" refers to any abnormal growth that forms a lump in the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025388","HPO_Name__c":"Thyroid nodule","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:733","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Ophthalmology","Gastroenterology","Retinal"],"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"],"Account":["Retinal"]},"synonyms":["adenomatous polyposis"," adenomatous polyposis coli"," adenomatous polyposis of the colon"," apc - adenomatous polyposis coli"," classic familial adenomatous polyposis"," classic fap"," colorectal adenomatous polyposis"," familial adenomatous polyposis"," familial adenomatous polyposis coli"," familial adenomatous polyposis syndrome"," familial intestinal polyposis"," familial polyposis"," familial polyposis coli"," fap"," fap - familial adenomatous polyposis"," fpc - familial polyposis coli"," hereditary adenomatous polyposis coli"," map - myh associated polyposis"," myh-associated polyposis"," polyposis coli"]}