{"Name":"Familial colorectal cancer type X","DiseaseID__c":"GARD:0021840","id":21840,"encodedName":"familial-colorectal-cancer-type-x","IsDeleted":false,"Disease_Name_Full__c":"Familial colorectal cancer type X","Xref_IDs__c":"1197359006; C120084; C3896578; MEDGEN:856172; MONDO:0018604; ORPHA:440437","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018604","Disease_Description__c":"Hereditary nonpolyposis colorectal cancer characterized by the absence of germline mutations in DNA mismatch-repair genes.","GARD_Name__c":"Familial colorectal cancer type X","GARD_Synonym__c":"fcctx; fcctx - familial colorectal cancer type x","Curated_Disease_Description_Source__c":"ORPHA:440437","Curated_Disease_Description__c":"A rare, hereditary nonpolyposis colon cancer defined in individuals meeting the Amsterdam criteria for Lynch syndrome, but lacking germline mutations in the mismatch repair genes. It is characterized by a later onset, preferential involvement of distal colon and rectum, lower risk of developing extracolonic cancer, a higher adenoma/carcinoma ratio, a higher differentiation of tumor cells, a more heterogeneous tumor architecture and an infiltrative growth pattern, when compared to Lynch syndrome cases.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:440437","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018604","ORPHANET_ID__c":"ORPHA:440437","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Cáncer colorrectal familiar tipo x","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"cáncer colorrectal familiar tipo x","Spanish_GARD_Synonym__c":"ccrfx; fcctx","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":"A rare, hereditary nonpolyposis colon cancer defined in individuals meeting the Amsterdam criteria for Lynch syndrome, but lacking germline mutations in the mismatch repair genes. It is characterized by a later onset, preferential involvement of distal colon and rectum, lower risk of developing extracolonic cancer, a higher adenoma/carcinoma ratio, a higher differentiation of tumor cells, a more heterogeneous tumor architecture and an infiltrative growth pattern, when compared to Lynch syndrome cases.","Curated_Disease_Description_Source__c":"ORPHA:440437","GARD_Synonym__c":"fcctx; fcctx - familial colorectal cancer type x","Name":"Familial colorectal cancer type X","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Fight Colorectal Cancer","Website__c":"https://fightcolorectalcancer.org/"},{"Account_Name__c":"FORCE: Facing Our Risk of Cancer Empowered","Website__c":"https://www.facingourrisk.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":"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":"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:440437"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:440437"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3896578","Source__c":"C3896578","Xref__c":"C3896578"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C120084","Source__c":"C3896578; MONDO:0018604","Xref__c":"C120084"},{"URL__c":"https://www.orpha.net/en/disease/detail/440437","Source__c":"C3896578; MONDO:0018604; ORPHA:440437","Xref__c":"ORPHA:440437"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=856172","Source__c":"C3896578","Xref__c":"MEDGEN:856172"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1197359006","Source__c":"C3896578","Xref__c":"1197359006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018604","Source__c":"GARD:0021840","Xref__c":"MONDO:0018604"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"BMPR1A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/bmpr1a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ATM","GHR_URL__c":"https://medlineplus.gov/genetics/gene/atm","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"POLE","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MUTYH","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mutyh","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"RPS20","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SEMA4A","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CHEK2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"POLD1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"BRCA2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/brca2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NPAT","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of developmental skills, as manifested by loss of developmental milestones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002376","HPO_Synonym__c":"Loss of acquired milestones; Loss of developmental milestones; Loss of milestones; Mental deterioration in childhood; Neurodevelopmental regression; Psychomotor regression; Psychomotor regression beginning in infancy; Psychomotor regression in infants; Psychomotor regression, progressive","HPO_Name__c":"Developmental regression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Very frequent (80-99%)","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:440437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100031","HPO_Name__c":"Neoplasm of the thyroid gland","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the uterus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010784","HPO_Synonym__c":"Uterine tumor","HPO_Name__c":"Uterine neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000738","HPO_Synonym__c":"Hallucination; Hallucinations; Sensory hallucination","HPO_Name__c":"Hallucinations","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002516","HPO_Synonym__c":"Intracranial hypertension; Intracranial pressure elevation; Rise in pressure inside skull","HPO_Name__c":"Increased intracranial pressure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100571","HPO_Synonym__c":"Ventricular diverticulum","HPO_Name__c":"Cardiac diverticulum","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","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:440437","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003006","HPO_Synonym__c":"Cancer of early nerve cells","HPO_Name__c":"Neuroblastoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Alteration or impairment in the processing or interpretation of sensory information can lead to abnormal perceptions or experiences.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010524","HPO_Synonym__c":"Agnosia","HPO_Name__c":"Disturbed sensory perception","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the skeleton.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010622","HPO_Synonym__c":"Skeletal tumor","HPO_Name__c":"Neoplasm of the skeletal system","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a neoplasm of the urinary system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010786","HPO_Name__c":"Urinary tract neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000739","HPO_Synonym__c":"Anxiety; Anxiousness; Excessive, persistent worry and fear","HPO_Name__c":"Anxiety","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100576","HPO_Name__c":"Amaurosis fugax","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Very frequent (80-99%)","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:440437","HPO_Frequency__c":"Very frequent (80-99%)","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:440437","HPO_Frequency__c":"Very frequent (80-99%)","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:440437","HPO_Frequency__c":"Frequent (30-79%)","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:440437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001260","HPO_Synonym__c":"Difficulty articulating speech; Dysarthric speech","HPO_Name__c":"Dysarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality in the sound (volume) or cadence (rate) of speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002167","HPO_Synonym__c":"Abnormal speech; Abnormal vocalization; Abnormality of speech or vocalization","HPO_Name__c":"Abnormal speech pattern","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000716","HPO_Synonym__c":"Depression; Depressive episode; Depressivity","HPO_Name__c":"Depression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100660","HPO_Synonym__c":"Disorder of involuntary muscle movements; Dyskinesis","HPO_Name__c":"Dyskinesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001402","HPO_Name__c":"Hepatocellular carcinoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the breast.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100013","HPO_Synonym__c":"Breast tumor; Tumours of the breast","HPO_Name__c":"Neoplasm of the breast","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000737","HPO_Synonym__c":"Cranky; Easily annoyed; Easily bothered; Easily upset; Grumpy; Hot-temper; Irritability; Irritable; Irritable mood; On edge; Quick-temper; Short fuse; Short tempered","HPO_Name__c":"Irritability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002354","HPO_Synonym__c":"Amnesia; Forgetfulness; Memory impairment; Memory loss; Memory problems; Poor memory","HPO_Name__c":"Memory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Occasional (5-29%)","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:440437","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007018","HPO_Synonym__c":"ADHD; Attention deficit; Attention deficit disorder; Attention deficit-hyperactivity disorder; Attention deficits; Childhood attention deficit/hyperactivity disorder","HPO_Name__c":"Attention deficit hyperactivity disorder","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Occasional (5-29%)","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:440437","HPO_Frequency__c":"Excluded (0%)","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:440437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001371","HPO_Synonym__c":"Flexed joint that cannot be straightened; Flexion contractures; Flexion contractures of joints","HPO_Name__c":"Flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hemorrhage affecting the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002239","HPO_Synonym__c":"Gastrointestinal bleeding; GI hemorrhage","HPO_Name__c":"Gastrointestinal hemorrhage","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004374","HPO_Synonym__c":"Paralysis or weakness of one side of body","HPO_Name__c":"Hemiplegia/hemiparesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Occasional (5-29%)","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"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100835","HPO_Synonym__c":"Benign neoplasm of the CNS","HPO_Name__c":"Benign neoplasm of the central nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Occasional (5-29%)","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:440437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Functional neurological abnormalities related to dysfunction of the pyramidal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007256","HPO_Synonym__c":"Corticospinal signs; Pyramidal signs; Pyramidal tract signs","HPO_Name__c":"Abnormal pyramidal sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Excluded (0%)","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:440437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a basal cell carcinoma of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002671","HPO_Synonym__c":"Basal cell carcinomas; Basal cell epithelioma; Basal cell nevus; Basalioma","HPO_Name__c":"Basal cell carcinoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001276","HPO_Synonym__c":"Hypertonicity; Increased muscle tone","HPO_Name__c":"Hypertonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002076","HPO_Synonym__c":"Intermittent migraine headaches; Migraine; Migraine headache; Migraine headaches","HPO_Name__c":"Migraine","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100273","HPO_Synonym__c":"Colon tumor","HPO_Name__c":"Neoplasm of the colon","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Very frequent (80-99%)","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:440437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010526","HPO_Name__c":"Dysgraphia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001123","HPO_Synonym__c":"Partial loss of field of vision; Visual field defects","HPO_Name__c":"Visual field defect","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Frequent (30-79%)","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:440437","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarily for muscle cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012113","HPO_Synonym__c":"Abnormality of creatine metabolism","HPO_Name__c":"Abnormal circulating creatine concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:440437","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Impaired ability to absorb one or more nutrients from the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002024","HPO_Synonym__c":"Intestinal malabsorption; Malabsorption","HPO_Name__c":"Malabsorption","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Gastroenterology"],"Disease Category":["Cancer","Genetics","Gastroenterology"],"Cause":["Genetics"]},"synonyms":["fcctx"," fcctx - familial colorectal cancer type x"]}