TaoMedAI/RareMedData huggingface dataset:
Gene: CPT2
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED (OMIM:255110)
Gene: CPT2
Phenotype: Elevated circulating acylcarnitine concentration (HP:0045045)
Associated disease: Carnitine palmitoyl transferase deficiency type 2, myopathic form; Carnitine palmitoyl transferase II deficiency, adult-onset form; Carnitine palmitoyl transferase II deficiency, myopathic form; CPT2, myopathic form; CPTII, adult-onset form; Carnitine palmitoyl transferase deficiency type 2, adult-onset form; CPT2, adult-onset form; CPTII, myopathic form (ORPHA:228302)
Gene: CPT2
Phenotype: Elevated circulating acylcarnitine concentration (HP:0045045)
Associated disease: CPT2, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, severe infantile form; CPT2, severe infantile form; Carnitine palmitoyl transferase II deficiency, severe infantile form; CPTII, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form; Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form; CPTII, severe infantile form (ORPHA:228305)
Gene: CPT2
Phenotype: Elevated circulating acylcarnitine concentration (HP:0045045)
Associated disease: CPTII, lethal systemic form; CPT2, neonatal form; CPT2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, lethal systemic form; Carnitine palmitoyl transferase deficiency type 2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, neonatal form; CPTII, neonatal form; Carnitine palmitoyl transferase deficiency type 2, neonatal form (ORPHA:228308)
Gene: CPT2
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: Carnitine palmitoyl transferase deficiency type 2, myopathic form; Carnitine palmitoyl transferase II deficiency, adult-onset form; Carnitine palmitoyl transferase II deficiency, myopathic form; CPT2, myopathic form; CPTII, adult-onset form; Carnitine palmitoyl transferase deficiency type 2, adult-onset form; CPT2, adult-onset form; CPTII, myopathic form (ORPHA:228302)
Gene: CPT2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: CPT2, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, severe infantile form; CPT2, severe infantile form; Carnitine palmitoyl transferase II deficiency, severe infantile form; CPTII, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form; Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form; CPTII, severe infantile form (ORPHA:228305)
Gene: CPT2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: CPTII, lethal systemic form; CPT2, neonatal form; CPT2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, lethal systemic form; Carnitine palmitoyl transferase deficiency type 2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, neonatal form; CPTII, neonatal form; Carnitine palmitoyl transferase deficiency type 2, neonatal form (ORPHA:228308)
Gene: CPT2
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: CPTII, lethal systemic form; CPT2, neonatal form; CPT2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, lethal systemic form; Carnitine palmitoyl transferase deficiency type 2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, neonatal form; CPTII, neonatal form; Carnitine palmitoyl transferase deficiency type 2, neonatal form (ORPHA:228308)
Gene: CPT2
Phenotype: Microcephaly (HP:0000252)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: High palate (HP:0000218)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Death in infancy (HP:0001522)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Reduced tissue carnitine O-palmitoyltransferase 2 activity (HP:0012380)
Associated disease: Carnitine palmitoyl transferase deficiency type 2, myopathic form; Carnitine palmitoyl transferase II deficiency, adult-onset form; Carnitine palmitoyl transferase II deficiency, myopathic form; CPT2, myopathic form; CPTII, adult-onset form; Carnitine palmitoyl transferase deficiency type 2, adult-onset form; CPT2, adult-onset form; CPTII, myopathic form (ORPHA:228302)
Gene: CPT2
Phenotype: Reduced tissue carnitine O-palmitoyltransferase 2 activity (HP:0012380)
Associated disease: CPT2, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, severe infantile form; CPT2, severe infantile form; Carnitine palmitoyl transferase II deficiency, severe infantile form; CPTII, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form; Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form; CPTII, severe infantile form (ORPHA:228305)
Gene: CPT2
Phenotype: Reduced tissue carnitine O-palmitoyltransferase 2 activity (HP:0012380)
Associated disease: CPTII, lethal systemic form; CPT2, neonatal form; CPT2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, lethal systemic form; Carnitine palmitoyl transferase deficiency type 2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, neonatal form; CPTII, neonatal form; Carnitine palmitoyl transferase deficiency type 2, neonatal form (ORPHA:228308)
Gene: CPT2
Phenotype: Overfolded helix (HP:0000396)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Hepatic calcification (HP:0006559)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Hepatic calcification (HP:0006559)
Associated disease: CPTII, lethal systemic form; CPT2, neonatal form; CPT2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, lethal systemic form; Carnitine palmitoyl transferase deficiency type 2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, neonatal form; CPTII, neonatal form; Carnitine palmitoyl transferase deficiency type 2, neonatal form (ORPHA:228308)
Gene: CPT2
Phenotype: Lipid accumulation in hepatocytes (HP:0006561)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Myoglobinuria (HP:0002913)
Associated disease: Carnitine palmitoyl transferase deficiency type 2, myopathic form; Carnitine palmitoyl transferase II deficiency, adult-onset form; Carnitine palmitoyl transferase II deficiency, myopathic form; CPT2, myopathic form; CPTII, adult-onset form; Carnitine palmitoyl transferase deficiency type 2, adult-onset form; CPT2, adult-onset form; CPTII, myopathic form (ORPHA:228302)
Gene: CPT2
Phenotype: Myoglobinuria (HP:0002913)
Associated disease: CPT2, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, severe infantile form; CPT2, severe infantile form; Carnitine palmitoyl transferase II deficiency, severe infantile form; CPTII, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form; Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form; CPTII, severe infantile form (ORPHA:228305)
Gene: CPT2
Phenotype: Myoglobinuria (HP:0002913)
Associated disease: CPTII, lethal systemic form; CPT2, neonatal form; CPT2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, lethal systemic form; Carnitine palmitoyl transferase deficiency type 2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, neonatal form; CPTII, neonatal form; Carnitine palmitoyl transferase deficiency type 2, neonatal form (ORPHA:228308)
Gene: CPT2
Phenotype: Myoglobinuria (HP:0002913)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED (OMIM:255110)
Gene: CPT2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE (OMIM:600649)
Gene: CPT2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CPT2, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, severe infantile form; CPT2, severe infantile form; Carnitine palmitoyl transferase II deficiency, severe infantile form; CPTII, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form; Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form; CPTII, severe infantile form (ORPHA:228305)
Gene: CPT2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Low-set ears (HP:0000369)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Sloping forehead (HP:0000340)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: High forehead (HP:0000348)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE (OMIM:600649)
Gene: CPT2
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE (OMIM:600649)
Gene: CPT2
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: CPTII, lethal systemic form; CPT2, neonatal form; CPT2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, lethal systemic form; Carnitine palmitoyl transferase deficiency type 2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, neonatal form; CPTII, neonatal form; Carnitine palmitoyl transferase deficiency type 2, neonatal form (ORPHA:228308)
Gene: CPT2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: CPT2, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, severe infantile form; CPT2, severe infantile form; Carnitine palmitoyl transferase II deficiency, severe infantile form; CPTII, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form; Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form; CPTII, severe infantile form (ORPHA:228305)
Gene: CPT2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: CPTII, lethal systemic form; CPT2, neonatal form; CPT2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, lethal systemic form; Carnitine palmitoyl transferase deficiency type 2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, neonatal form; CPTII, neonatal form; Carnitine palmitoyl transferase deficiency type 2, neonatal form (ORPHA:228308)
Gene: CPT2
Phenotype: Abnormal myocardium morphology (HP:0001637)
Associated disease: CPTII, lethal systemic form; CPT2, neonatal form; CPT2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, lethal systemic form; Carnitine palmitoyl transferase deficiency type 2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, neonatal form; CPTII, neonatal form; Carnitine palmitoyl transferase deficiency type 2, neonatal form (ORPHA:228308)
Gene: CPT2
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: CPT2, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, severe infantile form; CPT2, severe infantile form; Carnitine palmitoyl transferase II deficiency, severe infantile form; CPTII, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form; Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form; CPTII, severe infantile form (ORPHA:228305)
Gene: CPT2
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: CPTII, lethal systemic form; CPT2, neonatal form; CPT2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, lethal systemic form; Carnitine palmitoyl transferase deficiency type 2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, neonatal form; CPTII, neonatal form; Carnitine palmitoyl transferase deficiency type 2, neonatal form (ORPHA:228308)
Gene: CPT2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Nasal congestion (HP:0001742)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Basal ganglia cysts (HP:0006799)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Cataract (HP:0000518)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CR2
Phenotype: Anti-La/SS-B antibody positivity (HP:0032235)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Anti-nucleoporin 62 antibody positivity (HP:0033556)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Cheilitis (HP:0100825)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Meningitis (HP:0001287)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: CR2
Phenotype: Seizure (HP:0001250)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Partial absence of specific antibody response to unconjugated pneumococcus vaccine (HP:0410301)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: CR2
Phenotype: Proteinuria (HP:0000093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Arthritis (HP:0001369)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Malaise (HP:0033834)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Pyuria (HP:0012085)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Lupus nephritis (HP:0033726)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Neoplasm (HP:0002664)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: CR2
Phenotype: Malar rash (HP:0025300)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 7 (OMIM:614699)
Gene: CR2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 7 (OMIM:614699)
Gene: CR2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: CR2
Phenotype: Lymphoma (HP:0002665)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: CR2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: CR2
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Recurrent infections (HP:0002719)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 7 (OMIM:614699)
Gene: CR2
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: CR2
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: CR2
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Follicular hyperplasia (HP:0002729)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: CR2
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: CR2
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 7 (OMIM:614699)
Gene: CR2
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 7 (OMIM:614699)
Gene: CR2
Phenotype: Myalgia (HP:0003326)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 7 (OMIM:614699)
Gene: CR2
Phenotype: Diarrhea (HP:0002014)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: CR2
Phenotype: Chorea (HP:0002072)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Anorexia (HP:0002039)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: CR2
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Abnormality of T cell physiology (HP:0011840)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: CR2
Phenotype: Abnormal T cell count (HP:0011839)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: CR2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: CR2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 7 (OMIM:614699)
Gene: CR2
Phenotype: Anti-titin antibody positivity (HP:5000038)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Abnormality of salivation (HP:0100755)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Abnormal pigmentation of the oral mucosa (HP:0100669)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Decreased circulating total IgG concentration (HP:0032132)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 7 (OMIM:614699)
Gene: CR2
Phenotype: Reduced isohemagglutinin level (HP:0032139)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 7 (OMIM:614699)
Gene: CR2
Phenotype: Anti-dsDNA antibody positivity (HP:0020151)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Anti-ribosome Po antibody positivity (HP:0034076)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Anti-complement component C1q antibody positivity (HP:0034077)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Anti-phosphatidic acid antibody positivity (HP:0034096)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Anti-Ro52/TRIM21 antibody positivity (HP:0034093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Fever (HP:0001945)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Fever (HP:0001945)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 7 (OMIM:614699)
Gene: CR2
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: CR2
Phenotype: Depression (HP:0000716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Hematuria (HP:0000790)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Hypertension (HP:0000822)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Pharyngalgia (HP:0033050)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 7 (OMIM:614699)
Gene: CR2
Phenotype: Decreased circulating complement C4 concentration (HP:0045042)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Serositis (HP:0045073)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Anti-U1 ribonucleoprotein antibody positivity (HP:0033028)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Anti-Sm antibody positivity (HP:0033040)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Alopecia (HP:0001596)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)