{"Name":"Li-Fraumeni syndrome","DiseaseID__c":"GARD:0006902","id":6902,"encodedName":"li-fraumeni-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Li-Fraumeni syndrome","Xref_IDs__c":"428850001; C0085390; C3476; D016864; DOID:0111503; DOID:3012; MEDGEN:88399; MONDO:0018875; NBK1311; OMIM:151623; ORPHA:524","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018875","Disease_Description__c":"A rare, inherited, cancer predisposition syndrome characterized by the early-onset of multiple primary cancers including breast cancer, soft tissue and bone sarcomas, brain tumors, adrenal cortical carcinoma (ACC), leukemias, and other cancers.","GARD_Name__c":"Li-Fraumeni syndrome","GARD_Synonym__c":"lfs; li fraumeni syndrome; li-fraumeni familial cancer susceptibility syndrome; li-fraumeni familiar cancer susceptibility syndrome; li-fraumeni syndrome caused by mutation in tp53; sarcoma family syndrome of li and fraumeni; sarcoma, breast, leukaemia and adrenal gland syndrome; sarcoma, breast, leukemia and adrenal gland syndrome; sbla syndrome; tp53 li-fraumeni syndrome; tp53-related li-fraumeni syndrome","Curated_Disease_Description_Source__c":"GARD:0006902","Curated_Disease_Description__c":"Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults. The cancers most often associated with Li-Fraumeni syndrome include breast cancer, a form of bone cancer called osteosarcoma, and cancers of soft tissues (such as muscle) called soft tissue sarcomas. Other cancers commonly seen in this syndrome include brain tumors, cancers of blood-forming tissues (leukemias), and a cancer called adrenocortical carcinoma that affects the outer layer of the adrenal glands (small hormone-producing glands on top of each kidney). Several other types of cancer also occur more frequently in people with Li-Fraumeni syndrome. A very similar condition called Li-Fraumeni-like syndrome shares many of the features of classic Li-Fraumeni syndrome. Both conditions significantly increase the chances of developing multiple cancers beginning in childhood; however, the pattern of specific cancers seen in affected family members is different.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:524","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018875","ORPHANET_ID__c":"ORPHA:524","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de li-fraumeni","Spanish_Description_Source__c":"ORPHA:524","Spanish_Description__c":"Es un síndrome de predisposición al cáncer hereditario poco común, que se caracteriza por la aparición temprana de múltiples cánceres primarios que incluyen cáncer de mama, sarcomas de tejidos blandos y huesos, tumores cerebrales, carcinoma de corteza suprarrenal (CCS), leucemias y otros cánceres.","Spanish_Disease_Name__c":"síndrome de li-fraumeni","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:250908","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults. The cancers most often associated with Li-Fraumeni syndrome include breast cancer, a form of bone cancer called osteosarcoma, and cancers of soft tissues (such as muscle) called soft tissue sarcomas. Other cancers commonly seen in this syndrome include brain tumors, cancers of blood-forming tissues (leukemias), and a cancer called adrenocortical carcinoma that affects the outer layer of the adrenal glands (small hormone-producing glands on top of each kidney). Several other types of cancer also occur more frequently in people with Li-Fraumeni syndrome. A very similar condition called Li-Fraumeni-like syndrome shares many of the features of classic Li-Fraumeni syndrome. Both conditions significantly increase the chances of developing multiple cancers beginning in childhood; however, the pattern of specific cancers seen in affected family members is different.","Curated_Disease_Description_Source__c":"GARD:0006902","GARD_Synonym__c":"lfs; li fraumeni syndrome; li-fraumeni familial cancer susceptibility syndrome; li-fraumeni familiar cancer susceptibility syndrome; li-fraumeni syndrome caused by mutation in tp53; sarcoma family syndrome of li and fraumeni; sarcoma, breast, leukaemia and adrenal gland syndrome; sarcoma, breast, leukemia and adrenal gland syndrome; sbla syndrome; tp53 li-fraumeni syndrome; tp53-related li-fraumeni syndrome","Name":"Li-Fraumeni 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":"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":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"CancerCare","Website__c":"https://www.cancercare.org/"},{"Account_Name__c":"Li-Fraumeni Syndrome Association","Website__c":"https://www.lfsassociation.org/"},{"Account_Name__c":"Living LFS","Website__c":"https://livinglfs.org/"}],"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":"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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:524"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0085390"},{"Type__c":"GTR","Curie__c":"MEDGEN:C1835398"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006902","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1311","Source__c":"Gene Review","Xref__c":"NBK1311"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0085390","Source__c":"C0085390","Xref__c":"C0085390"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3476","Source__c":"C0085390; MONDO:0018875","Xref__c":"C3476"},{"URL__c":"https://www.orpha.net/en/disease/detail/524","Source__c":"C0085390; MONDO:0018875; ORPHA:524","Xref__c":"ORPHA:524"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C016864","Source__c":"C0085390; MONDO:0018875","Xref__c":"D016864"},{"URL__c":"https://www.omim.org/entry/151623","Source__c":"C0085390; MONDO:0018875","Xref__c":"OMIM:151623"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111503","Source__c":"MONDO:0018875","Xref__c":"DOID:0111503"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=88399","Source__c":"C0085390","Xref__c":"MEDGEN:88399"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A3012","Source__c":"MONDO:0018875","Xref__c":"DOID:3012"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=428850001","Source__c":"C0085390; MONDO:0018875","Xref__c":"428850001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018875","Source__c":"GARD:0006902","Xref__c":"MONDO:0018875"},{"URL__c":"https://medlineplus.gov/genetics/condition/li-fraumeni-syndrome","Source__c":"GARD:0006902","Xref__c":"https://medlineplus.gov/genetics/condition/li-fraumeni-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TP53","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tp53","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:524","HPO_Frequency__c":"Occasional (5-29%)","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:524","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002665","HPO_Synonym__c":"Cancer of lymphatic system","HPO_Name__c":"Lymphoma","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:524","HPO_Frequency__c":"Uncommon (<1-4%)","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:524","HPO_Frequency__c":"Occasional (5-29%)","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:524","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002861","HPO_Synonym__c":"Malignant melanoma","HPO_Name__c":"Melanoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:524","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Tumor of the lung.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100526","HPO_Synonym__c":"Lung tumor","HPO_Name__c":"Neoplasm of the lung","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:524","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012174","HPO_Synonym__c":"Glioblastoma","HPO_Name__c":"Glioblastoma multiforme","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:524","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A neoplasm of the central nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100006","HPO_Synonym__c":"Neoplasm of the CNS; Tumors of the central nervous system","HPO_Name__c":"Neoplasm of the central nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:524","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002859","HPO_Name__c":"Rhabdomyosarcoma","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:524","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100605","HPO_Name__c":"Neoplasm of the larynx","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:524","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a neoplasm of the testis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010788","HPO_Synonym__c":"Testicular tumor","HPO_Name__c":"Testicular neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:524","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the ovary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100615","HPO_Synonym__c":"Neoplasm of the ovaries; Neoplasm of the ovary; Ovarian tumor","HPO_Name__c":"Ovarian neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:524","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002669","HPO_Synonym__c":"Bone cell cancer; Osteogenic sarcoma","HPO_Name__c":"Osteosarcoma","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:524","HPO_Frequency__c":"Occasional (5-29%)","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:524","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a neoplasm of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009726","HPO_Synonym__c":"Neoplasia of the kidneys; Renal tumors","HPO_Name__c":"Renal neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:524","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012288","HPO_Synonym__c":"Head and neck tumor","HPO_Name__c":"Neoplasm of head and neck","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:524","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006744","HPO_Synonym__c":"Adrenal carcinoma; Adrenal gland carinoma","HPO_Name__c":"Adrenocortical carcinoma","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:524","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A primitive neuroectodermal neoplasm that occurs in the central nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030070","HPO_Name__c":"Central primitive neuroectodermal tumor","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:524","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A cancer of the prostate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012125","HPO_Synonym__c":"Prostatic cancer","HPO_Name__c":"Prostate cancer","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:524","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A form of leukemia characterized by overproduction of an early myeloid cell.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004808","HPO_Synonym__c":"Acute myeloblastic leukemia; Acute myelocytic leukemia; Acute myelogenous leukemia; AML","HPO_Name__c":"Acute myeloid leukemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:524","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100768","HPO_Name__c":"Choriocarcinoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:524","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A form of acute leukemia characterized by excess lympoblasts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006721","HPO_Synonym__c":"Acute lymphatic leukemia; Acute lymphocytic leukemia; Acute lymphoid leukemia","HPO_Name__c":"Acute lymphoblastic leukemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:524","HPO_Frequency__c":"Occasional (5-29%)","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:524","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:524","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030392","HPO_Name__c":"Choroid plexus carcinoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:524","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002863","HPO_Synonym__c":"Myelodysplastic syndrome","HPO_Name__c":"Myelodysplasia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:524","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a carcinoma of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002890","HPO_Name__c":"Thyroid carcinoma","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:524","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100743","HPO_Synonym__c":"Rectal tumor","HPO_Name__c":"Neoplasm of the rectum","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:524","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002664","HPO_Synonym__c":"Neoplasia; Oncological abnormality; Tumor; Tumour","HPO_Name__c":"Neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:524","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001909","HPO_Name__c":"Leukemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:524","HPO_Frequency__c":"Occasional (5-29%)","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:524","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a carcinoma of the breast.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003002","HPO_Synonym__c":"Breast cancer","HPO_Name__c":"Breast carcinoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:524","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012189","HPO_Synonym__c":"Hodgkin disease; Hodgkin's lymphoma","HPO_Name__c":"Hodgkin lymphoma","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:524","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012539","HPO_Name__c":"Non-Hodgkin lymphoma","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:524","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002894","HPO_Synonym__c":"Neoplasia of the pancreas; Pancreatic tumor","HPO_Name__c":"Neoplasm of the pancreas","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Neurology","Endocrine","Pediatrics"],"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Endocrine"]},"synonyms":["lfs"," li fraumeni syndrome"," li-fraumeni familial cancer susceptibility syndrome"," li-fraumeni familiar cancer susceptibility syndrome"," li-fraumeni syndrome caused by mutation in tp53"," sarcoma family syndrome of li and fraumeni"," sarcoma, breast, leukaemia and adrenal gland syndrome"," sarcoma, breast, leukemia and adrenal gland syndrome"," sbla syndrome"," tp53 li-fraumeni syndrome"," tp53-related li-fraumeni syndrome"],"spanishId":11860,"spanishName":"sindrome-de-li-fraumeni"}