TaoMedAI/RareMedData huggingface dataset:
Gene: APP
Phenotype: Late onset (HP:0003584)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED (OMIM:605714)
Gene: APP
Phenotype: Adult onset (HP:0003581)
Associated disease: ALZHEIMER DISEASE (OMIM:104300)
Gene: APP
Phenotype: Cerebral amyloid angiopathy (HP:0011970)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED (OMIM:605714)
Gene: APP
Phenotype: Cerebral amyloid angiopathy (HP:0011970)
Associated disease: HCHWA, Dutch type; ABeta amyloidosis, Dutch type; ABetaE22Q amyloidosis; HCHWA-D; Hereditary cerebral hemorrhage with amyloidosis, Dutch type (ORPHA:100006)
Gene: APP
Phenotype: Aphasia (HP:0002381)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: APP
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: HCHWA, Arctic type; Hereditary cerebral hemorrhage with amyloidosis, Arctic type; ABetaE22G amyloidosis; ABeta amyloidosis, Arctic type (ORPHA:324723)
Gene: APP
Phenotype: Memory impairment (HP:0002354)
Associated disease: HCHWA, Iowa type; ABetaD23N amyloidosis; ABeta amyloidosis, Iowa type; Hereditary cerebral hemorrhage with amyloidosis, Iowa type (ORPHA:324708)
Gene: APP
Phenotype: Memory impairment (HP:0002354)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: APP
Phenotype: Headache (HP:0002315)
Associated disease: HCHWA, Dutch type; ABeta amyloidosis, Dutch type; ABetaE22Q amyloidosis; HCHWA-D; Hereditary cerebral hemorrhage with amyloidosis, Dutch type (ORPHA:100006)
Gene: APP
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: HCHWA, Piedmont type; ABetaL34V amyloidosis; Hereditary cerebral hemorrhage with amyloidosis, Piedmont type; ABetaL34V-related amyloidosis; ABeta amyloidosis, Piedmont type (ORPHA:324703)
Gene: APP
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: HCHWA, Iowa type; ABetaD23N amyloidosis; ABeta amyloidosis, Iowa type; Hereditary cerebral hemorrhage with amyloidosis, Iowa type (ORPHA:324708)
Gene: APP
Phenotype: Death in early adulthood (HP:0100613)
Associated disease: HCHWA, Dutch type; ABeta amyloidosis, Dutch type; ABetaE22Q amyloidosis; HCHWA-D; Hereditary cerebral hemorrhage with amyloidosis, Dutch type (ORPHA:100006)
Gene: APP
Phenotype: Recurrent cerebral hemorrhage (HP:0004968)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED (OMIM:605714)
Gene: APP
Phenotype: Tortuous cerebral arteries (HP:0004938)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED (OMIM:605714)
Gene: APP
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: APP
Phenotype: Hallucinations (HP:0000738)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: APP
Phenotype: Disinhibition (HP:0000734)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: APP
Phenotype: Agitation (HP:0000713)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: APP
Phenotype: Dementia (HP:0000726)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: APP
Phenotype: Dementia (HP:0000726)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED (OMIM:605714)
Gene: APP
Phenotype: Dementia (HP:0000726)
Associated disease: ALZHEIMER DISEASE (OMIM:104300)
Gene: APP
Phenotype: Dementia (HP:0000726)
Associated disease: Hereditary cerebral hemorrhage with amyloidosis, Italian type; ABetaE22K amyloidosis; ABeta amyloidosis, Italian type; HCHWA, Italian type (ORPHA:324713)
Gene: APP
Phenotype: Dementia (HP:0000726)
Associated disease: HCHWA, Piedmont type; ABetaL34V amyloidosis; Hereditary cerebral hemorrhage with amyloidosis, Piedmont type; ABetaL34V-related amyloidosis; ABeta amyloidosis, Piedmont type (ORPHA:324703)
Gene: APP
Phenotype: Dementia (HP:0000726)
Associated disease: HCHWA, Iowa type; ABetaD23N amyloidosis; ABeta amyloidosis, Iowa type; Hereditary cerebral hemorrhage with amyloidosis, Iowa type (ORPHA:324708)
Gene: APP
Phenotype: Dementia (HP:0000726)
Associated disease: HCHWA, Dutch type; ABeta amyloidosis, Dutch type; ABetaE22Q amyloidosis; HCHWA-D; Hereditary cerebral hemorrhage with amyloidosis, Dutch type (ORPHA:100006)
Gene: APP
Phenotype: Atypical behavior (HP:0000708)
Associated disease: HCHWA, Arctic type; Hereditary cerebral hemorrhage with amyloidosis, Arctic type; ABetaE22G amyloidosis; ABeta amyloidosis, Arctic type (ORPHA:324723)
Gene: APP
Phenotype: Atypical behavior (HP:0000708)
Associated disease: HCHWA, Piedmont type; ABetaL34V amyloidosis; Hereditary cerebral hemorrhage with amyloidosis, Piedmont type; ABetaL34V-related amyloidosis; ABeta amyloidosis, Piedmont type (ORPHA:324703)
Gene: APP
Phenotype: Atypical behavior (HP:0000708)
Associated disease: HCHWA, Iowa type; ABetaD23N amyloidosis; ABeta amyloidosis, Iowa type; Hereditary cerebral hemorrhage with amyloidosis, Iowa type (ORPHA:324708)
Gene: APP
Phenotype: Atypical behavior (HP:0000708)
Associated disease: HCHWA, Dutch type; ABeta amyloidosis, Dutch type; ABetaE22Q amyloidosis; HCHWA-D; Hereditary cerebral hemorrhage with amyloidosis, Dutch type (ORPHA:100006)
Gene: APP
Phenotype: Abnormality of mental function (HP:0011446)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: APP
Phenotype: Neurodevelopmental abnormality (HP:0012759)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: APP
Phenotype: Cerebellar hemorrhage (HP:0011695)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED (OMIM:605714)
Gene: APP
Phenotype: Semantic dementia (HP:0030219)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: APP
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: APP
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: APRT
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: 2,8-dihydroxyadenine urolithiasis; Adenine phosphoribosyltransferase deficiency; APRT deficiency (ORPHA:976)
Gene: APRT
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY (OMIM:614723)
Gene: APRT
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: 2,8-dihydroxyadenine urolithiasis; Adenine phosphoribosyltransferase deficiency; APRT deficiency (ORPHA:976)
Gene: APRT
Phenotype: Proteinuria (HP:0000093)
Associated disease: 2,8-dihydroxyadenine urolithiasis; Adenine phosphoribosyltransferase deficiency; APRT deficiency (ORPHA:976)
Gene: APRT
Phenotype: Urinary hesitancy (HP:0000019)
Associated disease: 2,8-dihydroxyadenine urolithiasis; Adenine phosphoribosyltransferase deficiency; APRT deficiency (ORPHA:976)
Gene: APRT
Phenotype: Urinary retention (HP:0000016)
Associated disease: 2,8-dihydroxyadenine urolithiasis; Adenine phosphoribosyltransferase deficiency; APRT deficiency (ORPHA:976)
Gene: APRT
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: 2,8-dihydroxyadenine urolithiasis; Adenine phosphoribosyltransferase deficiency; APRT deficiency (ORPHA:976)
Gene: APRT
Phenotype: Elevated urinary 2,8-dihydroxyadenine level (HP:6000803)
Associated disease: ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY (OMIM:614723)
Gene: APRT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY (OMIM:614723)
Gene: APRT
Phenotype: Abdominal pain (HP:0002027)
Associated disease: ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY (OMIM:614723)
Gene: APRT
Phenotype: Oliguria (HP:0100520)
Associated disease: ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY (OMIM:614723)
Gene: APRT
Phenotype: Oliguria (HP:0100520)
Associated disease: 2,8-dihydroxyadenine urolithiasis; Adenine phosphoribosyltransferase deficiency; APRT deficiency (ORPHA:976)
Gene: APRT
Phenotype: Dysuria (HP:0100518)
Associated disease: 2,8-dihydroxyadenine urolithiasis; Adenine phosphoribosyltransferase deficiency; APRT deficiency (ORPHA:976)
Gene: APRT
Phenotype: Abdominal colic (HP:0011848)
Associated disease: 2,8-dihydroxyadenine urolithiasis; Adenine phosphoribosyltransferase deficiency; APRT deficiency (ORPHA:976)
Gene: APRT
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY (OMIM:614723)
Gene: APRT
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: 2,8-dihydroxyadenine urolithiasis; Adenine phosphoribosyltransferase deficiency; APRT deficiency (ORPHA:976)
Gene: APRT
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY (OMIM:614723)
Gene: APRT
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: 2,8-dihydroxyadenine urolithiasis; Adenine phosphoribosyltransferase deficiency; APRT deficiency (ORPHA:976)
Gene: APRT
Phenotype: Childhood onset (HP:0011463)
Associated disease: ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY (OMIM:614723)
Gene: APRT
Phenotype: Uric acid nephrolithiasis (HP:0000791)
Associated disease: 2,8-dihydroxyadenine urolithiasis; Adenine phosphoribosyltransferase deficiency; APRT deficiency (ORPHA:976)
Gene: APRT
Phenotype: Hematuria (HP:0000790)
Associated disease: ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY (OMIM:614723)
Gene: APRT
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY (OMIM:614723)
Gene: APRT
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: 2,8-dihydroxyadenine urolithiasis; Adenine phosphoribosyltransferase deficiency; APRT deficiency (ORPHA:976)
Gene: APRT
Phenotype: 2,8-dihydroxyadenine crystalluria (HP:0034279)
Associated disease: ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY (OMIM:614723)
Gene: APRT
Phenotype: Hypertension (HP:0000822)
Associated disease: 2,8-dihydroxyadenine urolithiasis; Adenine phosphoribosyltransferase deficiency; APRT deficiency (ORPHA:976)
Gene: APRT
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY (OMIM:614723)
Gene: APRT
Phenotype: Urolithiasis (HP:0034368)
Associated disease: ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY (OMIM:614723)
Gene: APRT
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: 2,8-dihydroxyadenine urolithiasis; Adenine phosphoribosyltransferase deficiency; APRT deficiency (ORPHA:976)
Gene: APRT
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: 2,8-dihydroxyadenine urolithiasis; Adenine phosphoribosyltransferase deficiency; APRT deficiency (ORPHA:976)
Gene: APRT
Phenotype: Flank pain (HP:0030157)
Associated disease: 2,8-dihydroxyadenine urolithiasis; Adenine phosphoribosyltransferase deficiency; APRT deficiency (ORPHA:976)
Gene: APRT
Phenotype: Macroscopic hematuria (HP:0012587)
Associated disease: 2,8-dihydroxyadenine urolithiasis; Adenine phosphoribosyltransferase deficiency; APRT deficiency (ORPHA:976)
Gene: FAS
Phenotype: Epiphora (HP:0009926)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: FAS
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FAS
Phenotype: Scalp tenderness (HP:0100809)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: FAS
Phenotype: Glomerulopathy (HP:0100820)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Increased total lymphocyte count (HP:0100827)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FAS
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Meningitis (HP:0001287)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Confusion (HP:0001289)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Seizure (HP:0001250)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FAS
Phenotype: Seizure (HP:0001250)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Colitis (HP:0002583)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FAS
Phenotype: Ataxia (HP:0001251)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Dalen Fuchs nodules (HP:6000710)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: FAS
Phenotype: Bone marrow hypercellularity (HP:0031020)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FAS
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FAS
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FAS
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Corneal keratic precipitates (HP:0025341)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: FAS
Phenotype: Arthritis (HP:0001369)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FAS
Phenotype: Arthritis (HP:0001369)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Epididymitis (HP:0000031)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Nuchal rigidity (HP:0031179)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: FAS
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FAS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (OMIM:601859)
Gene: FAS
Phenotype: Superficial thrombophlebitis (HP:0002638)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Vasculitis (HP:0002633)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FAS
Phenotype: Vasculitis (HP:0002633)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (OMIM:601859)
Gene: FAS
Phenotype: Vasculitis (HP:0002633)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: T-cell lymphoma (HP:0012190)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FAS
Phenotype: B-cell lymphoma (HP:0012191)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FAS
Phenotype: Hodgkin lymphoma (HP:0012189)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FAS
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Hepatitis (HP:0012115)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FAS
Phenotype: Panuveitis (HP:0012121)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Decreased T cell apoptosis (HP:0002731)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (OMIM:601859)
Gene: FAS
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FAS
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FAS
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Chronic noninfectious lymphadenopathy (HP:0002730)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FAS
Phenotype: Chronic noninfectious lymphadenopathy (HP:0002730)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (OMIM:601859)
Gene: FAS
Phenotype: Follicular hyperplasia (HP:0002729)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (OMIM:601859)
Gene: FAS
Phenotype: Systemic lupus erythematosus (HP:0002725)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FAS
Phenotype: Malabsorption (HP:0002024)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Nausea (HP:0002018)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: FAS
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Myalgia (HP:0003326)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Diarrhea (HP:0002014)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: FAS
Phenotype: Increased circulating interleukin 10 concentration (HP:0033199)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FAS
Phenotype: Migraine (HP:0002076)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Conjunctival hyperemia (HP:0030953)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: FAS
Phenotype: Anorexia (HP:0002039)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Increased circulating interleukin 18 concentration (HP:0034447)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FAS
Phenotype: Endocarditis (HP:0100584)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FAS
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (OMIM:601859)
Gene: FAS
Phenotype: Platelet antibody positive (HP:0003454)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (OMIM:601859)
Gene: FAS
Phenotype: Pleuritis (HP:0002102)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FAS
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Increased circulating IgM level (HP:0003496)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (OMIM:601859)
Gene: FAS
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FAS
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (OMIM:601859)
Gene: FAS
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FAS
Phenotype: Paresthesia (HP:0003401)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FAS
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (OMIM:601859)
Gene: FAS
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: FAS
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: FAS
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FAS
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Increased circulating immunoglobulin concentration (HP:0010702)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FAS
Phenotype: Orchitis (HP:0100796)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Poliosis (HP:0002290)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: FAS
Phenotype: Gangrene (HP:0100758)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Fibroadenoma of the breast (HP:0010619)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FAS
Phenotype: Coombs-positive hemolytic anemia (HP:0004844)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FAS
Phenotype: Coombs-positive hemolytic anemia (HP:0004844)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (OMIM:601859)
Gene: FAS
Phenotype: Infectious encephalitis (HP:0002383)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: FAS
Phenotype: Aphasia (HP:0002381)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: FAS
Phenotype: Acne (HP:0001061)
Associated disease: Behçet disease (ORPHA:117)
Gene: FAS
Phenotype: Vitiligo (HP:0001045)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)