TaoMedAI/RareMedData huggingface dataset:
Gene: TLR4
Phenotype: Abnormal myocardium morphology (HP:0001637)
Associated disease: Behçet disease (ORPHA:117)
Gene: TLR4
Phenotype: Pancreatitis (HP:0001733)
Associated disease: Behçet disease (ORPHA:117)
Gene: TLR4
Phenotype: Pericarditis (HP:0001701)
Associated disease: Behçet disease (ORPHA:117)
Gene: TLR4
Phenotype: Retinopathy (HP:0000488)
Associated disease: Behçet disease (ORPHA:117)
Gene: TLR4
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: Behçet disease (ORPHA:117)
Gene: TLR4
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Behçet disease (ORPHA:117)
Gene: TLR4
Phenotype: Cataract (HP:0000518)
Associated disease: Behçet disease (ORPHA:117)
Gene: TLR4
Phenotype: Weight loss (HP:0001824)
Associated disease: Behçet disease (ORPHA:117)
Gene: TLR4
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Behçet disease (ORPHA:117)
Gene: TSPAN7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED 58 (OMIM:300210)
Gene: TSPAN7
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MENTAL RETARDATION, X-LINKED 58 (OMIM:300210)
Gene: TSPAN7
Phenotype: Nystagmus (HP:0000639)
Associated disease: MENTAL RETARDATION, X-LINKED 58 (OMIM:300210)
Gene: TSPAN7
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: MENTAL RETARDATION, X-LINKED 58 (OMIM:300210)
Gene: TSPAN7
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, X-LINKED 58 (OMIM:300210)
Gene: TSPAN7
Phenotype: Narrow face (HP:0000275)
Associated disease: MENTAL RETARDATION, X-LINKED 58 (OMIM:300210)
Gene: TSPAN7
Phenotype: Long face (HP:0000276)
Associated disease: MENTAL RETARDATION, X-LINKED 58 (OMIM:300210)
Gene: TSPAN7
Phenotype: Short philtrum (HP:0000322)
Associated disease: MENTAL RETARDATION, X-LINKED 58 (OMIM:300210)
Gene: TSPAN7
Phenotype: Small nail (HP:0001792)
Associated disease: MENTAL RETARDATION, X-LINKED 58 (OMIM:300210)
Gene: TSPAN7
Phenotype: Myopia (HP:0000545)
Associated disease: MENTAL RETARDATION, X-LINKED 58 (OMIM:300210)
Gene: TRAPPC10
Phenotype: Poor speech (HP:0002465)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY (OMIM:620027)
Gene: TRAPPC10
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY (OMIM:620027)
Gene: TRAPPC10
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TRAPPC10
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TRAPPC10
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY (OMIM:620027)
Gene: TRAPPC10
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY (OMIM:620027)
Gene: TRAPPC10
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY (OMIM:620027)
Gene: TRAPPC10
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TRAPPC10
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TRAPPC10
Phenotype: Waddling gait (HP:0002515)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY (OMIM:620027)
Gene: TRAPPC10
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TRAPPC10
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TRAPPC10
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY (OMIM:620027)
Gene: TRAPPC10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY (OMIM:620027)
Gene: TRAPPC10
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TRAPPC10
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TRAPPC10
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TRAPPC10
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TRAPPC10
Phenotype: Synophrys (HP:0000664)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY (OMIM:620027)
Gene: TRAPPC10
Phenotype: Short stature (HP:0004322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY (OMIM:620027)
Gene: TRAPPC10
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TRAPPC10
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY (OMIM:620027)
Gene: TRAPPC10
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY (OMIM:620027)
Gene: TRAPPC10
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY (OMIM:620027)
Gene: TRAPPC10
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY (OMIM:620027)
Gene: TRAPPC10
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TRAPPC10
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY (OMIM:620027)
Gene: TRAPPC10
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TRAPPC10
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TRAPPC10
Phenotype: Growth delay (HP:0001510)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TRAPPC10
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TRAPPC10
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY (OMIM:620027)
Gene: TRAPPC10
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TMPO
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TMPO
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TMPO
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TMPO
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TMPO
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TMPO
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TMPO
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TMPO
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TMPO
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TMPO
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TMPO
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TMPO
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TMPO
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CLEC3B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MACULAR DYSTROPHY, RETINAL, 4 (OMIM:619977)
Gene: CLEC3B
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: MACULAR DYSTROPHY, RETINAL, 4 (OMIM:619977)
Gene: CLEC3B
Phenotype: Middle age onset (HP:0003596)
Associated disease: MACULAR DYSTROPHY, RETINAL, 4 (OMIM:619977)
Gene: CLEC3B
Phenotype: Late onset (HP:0003584)
Associated disease: MACULAR DYSTROPHY, RETINAL, 4 (OMIM:619977)
Gene: CLEC3B
Phenotype: Nyctalopia (HP:0000662)
Associated disease: MACULAR DYSTROPHY, RETINAL, 4 (OMIM:619977)
Gene: CLEC3B
Phenotype: Reduced OCT-measured foveal thickness (HP:0030619)
Associated disease: MACULAR DYSTROPHY, RETINAL, 4 (OMIM:619977)
Gene: CLEC3B
Phenotype: Choroidal neovascularization (HP:0011506)
Associated disease: MACULAR DYSTROPHY, RETINAL, 4 (OMIM:619977)
Gene: TNF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: TNF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 (OMIM:157300)
Gene: TNF
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: TNF
Phenotype: Nausea (HP:0002018)
Associated disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 (OMIM:157300)
Gene: TNF
Phenotype: Vomiting (HP:0002013)
Associated disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 (OMIM:157300)
Gene: TNF
Phenotype: Migraine without aura (HP:0002083)
Associated disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 (OMIM:157300)
Gene: TNF
Phenotype: Asthma (HP:0002099)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: TNF
Phenotype: Migraine with aura (HP:0002077)
Associated disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 (OMIM:157300)
Gene: TNF
Phenotype: Phonophobia (HP:0002183)
Associated disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 (OMIM:157300)
Gene: TNF
Phenotype: Bronchoconstriction (HP:4000007)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: TNF
Phenotype: Photophobia (HP:0000613)
Associated disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 (OMIM:157300)
Gene: TNF
Phenotype: Airway hyperresponsiveness (HP:0032933)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: TNNC2
Phenotype: Motor delay (HP:0001270)
Associated disease: CONGENITAL MYOPATHY 15 (OMIM:620161)
Gene: TNNC2
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL MYOPATHY 15 (OMIM:620161)
Gene: TNNC2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CONGENITAL MYOPATHY 15 (OMIM:620161)
Gene: TNNC2
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: CONGENITAL MYOPATHY 15 (OMIM:620161)
Gene: TNNC2
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: CONGENITAL MYOPATHY 15 (OMIM:620161)
Gene: TNNC2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CONGENITAL MYOPATHY 15 (OMIM:620161)
Gene: TNNC2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CONGENITAL MYOPATHY 15 (OMIM:620161)
Gene: TNNC2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONGENITAL MYOPATHY 15 (OMIM:620161)
Gene: TNNC2
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL MYOPATHY 15 (OMIM:620161)
Gene: TNNC2
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: CONGENITAL MYOPATHY 15 (OMIM:620161)
Gene: TNNC2
Phenotype: Osteopenia (HP:0000938)
Associated disease: CONGENITAL MYOPATHY 15 (OMIM:620161)
Gene: TNNC2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: CONGENITAL MYOPATHY 15 (OMIM:620161)
Gene: TNNC2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: CONGENITAL MYOPATHY 15 (OMIM:620161)
Gene: TNNC2
Phenotype: Camptodactyly (HP:0012385)
Associated disease: CONGENITAL MYOPATHY 15 (OMIM:620161)
Gene: TNNC2
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: CONGENITAL MYOPATHY 15 (OMIM:620161)
Gene: TNNC2
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: CONGENITAL MYOPATHY 15 (OMIM:620161)
Gene: TNNC2
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: CONGENITAL MYOPATHY 15 (OMIM:620161)
Gene: TNNC2
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: CONGENITAL MYOPATHY 15 (OMIM:620161)
Gene: TNFAIP3
Phenotype: Anti-La/SS-B antibody positivity (HP:0032235)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Anti-nucleoporin 62 antibody positivity (HP:0033556)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Cheilitis (HP:0100825)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Seizure (HP:0001250)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Colitis (HP:0002583)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE (OMIM:616744)
Gene: TNFAIP3
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Proteinuria (HP:0000093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Lupus anticoagulant (HP:0025343)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE (OMIM:616744)
Gene: TNFAIP3
Phenotype: Arthritis (HP:0001369)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Malaise (HP:0033834)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Pyuria (HP:0012085)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Lupus nephritis (HP:0033726)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Malar rash (HP:0025300)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE (OMIM:616744)
Gene: TNFAIP3
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Oral ulcer (HP:0000155)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE (OMIM:616744)
Gene: TNFAIP3
Phenotype: Anterior uveitis (HP:0012122)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE (OMIM:616744)
Gene: TNFAIP3
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Chorea (HP:0002072)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Chorea (HP:0002072)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE (OMIM:616744)
Gene: TNFAIP3
Phenotype: Anorexia (HP:0002039)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE (OMIM:616744)
Gene: TNFAIP3
Phenotype: Infantile onset (HP:0003593)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE (OMIM:616744)
Gene: TNFAIP3
Phenotype: Anti-titin antibody positivity (HP:5000038)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Abnormality of salivation (HP:0100755)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Ileal ulcer (HP:0032024)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE (OMIM:616744)
Gene: TNFAIP3
Phenotype: Abnormal pigmentation of the oral mucosa (HP:0100669)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE (OMIM:616744)
Gene: TNFAIP3
Phenotype: Anti-dsDNA antibody positivity (HP:0020151)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Anti-ribosome Po antibody positivity (HP:0034076)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Anti-complement component C1q antibody positivity (HP:0034077)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Anti-phosphatidic acid antibody positivity (HP:0034096)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Anti-Ro52/TRIM21 antibody positivity (HP:0034093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Fever (HP:0001945)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Recurrent fever (HP:0001954)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE (OMIM:616744)
Gene: TNFAIP3
Phenotype: Depression (HP:0000716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Childhood onset (HP:0011463)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE (OMIM:616744)
Gene: TNFAIP3
Phenotype: Young adult onset (HP:0011462)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE (OMIM:616744)
Gene: TNFAIP3
Phenotype: Hematuria (HP:0000790)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE (OMIM:616744)
Gene: TNFAIP3
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Hypertension (HP:0000822)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Decreased circulating complement C4 concentration (HP:0045042)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Serositis (HP:0045073)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Genital ulcers (HP:0003249)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE (OMIM:616744)
Gene: TNFAIP3
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Skin rash (HP:0000988)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE (OMIM:616744)
Gene: TNFAIP3
Phenotype: Anti-U1 ribonucleoprotein antibody positivity (HP:0033028)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Anti-Sm antibody positivity (HP:0033040)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Alopecia (HP:0001596)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Fatigue (HP:0012378)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Retinopathy (HP:0000488)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Weight loss (HP:0001824)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE (OMIM:616744)
Gene: TNFAIP3
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFAIP3
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE (OMIM:616744)