TaoMedAI/RareMedData huggingface dataset:
Gene: LTBP3
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LTBP3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: LTBP3
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LTBP3
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP3
Phenotype: Round face (HP:0000311)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: LTBP3
Phenotype: Round face (HP:0000311)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: LTBP3
Phenotype: Round face (HP:0000311)
Associated disease: GELEOPHYSIC DYSPLASIA 3 (OMIM:617809)
Gene: LTBP3
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: DENTAL ANOMALIES AND SHORT STATURE (OMIM:601216)
Gene: LTBP3
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LTBP3
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LTBP3
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LTBP3
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: LTBP3
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: GELEOPHYSIC DYSPLASIA 3 (OMIM:617809)
Gene: LTBP3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LTBP3
Phenotype: Premature birth (HP:0001622)
Associated disease: GELEOPHYSIC DYSPLASIA 3 (OMIM:617809)
Gene: LTBP3
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP3
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LTBP3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: DENTAL ANOMALIES AND SHORT STATURE (OMIM:601216)
Gene: LTBP3
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: DENTAL ANOMALIES AND SHORT STATURE (OMIM:601216)
Gene: LTBP3
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LTBP3
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Spontaneous cerebrospinal fluid leak (HP:0032934)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Descending aortic dissection (HP:0012499)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: LTBP3
Phenotype: Aortic tortuosity (HP:0006687)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LTBP3
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LTBP3
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: LTBP3
Phenotype: Macrotia (HP:0000400)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LTBP3
Phenotype: Tricuspid valve prolapse (HP:0001704)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: LTBP3
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LTBP3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: GELEOPHYSIC DYSPLASIA 3 (OMIM:617809)
Gene: LTBP3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP3
Phenotype: Astigmatism (HP:0000483)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Astigmatism (HP:0000483)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LTBP3
Phenotype: Astigmatism (HP:0000483)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: LTBP3
Phenotype: Strabismus (HP:0000486)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Strabismus (HP:0000486)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: GELEOPHYSIC DYSPLASIA 3 (OMIM:617809)
Gene: LTBP3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LTBP3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: LTBP3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: GELEOPHYSIC DYSPLASIA 3 (OMIM:617809)
Gene: LTBP3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: LTBP3
Phenotype: Narrow foot (HP:0001786)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Short neck (HP:0000470)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LTBP3
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP3
Phenotype: Short foot (HP:0001773)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: LTBP3
Phenotype: Short foot (HP:0001773)
Associated disease: GELEOPHYSIC DYSPLASIA 3 (OMIM:617809)
Gene: LTBP3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP3
Phenotype: Pes planus (HP:0001763)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP3
Phenotype: Pes planus (HP:0001763)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Hammertoe (HP:0001765)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LTBP3
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: LTBP3
Phenotype: Bulbous nose (HP:0000414)
Associated disease: GELEOPHYSIC DYSPLASIA 3 (OMIM:617809)
Gene: LTBP3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LTBP3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: GELEOPHYSIC DYSPLASIA 3 (OMIM:617809)
Gene: LTBP3
Phenotype: Pes cavus (HP:0001761)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Cataract (HP:0000518)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LTBP3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP3
Phenotype: Foot acroosteolysis (HP:0001842)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: LTBP3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP3
Phenotype: Proptosis (HP:0000520)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Telecanthus (HP:0000506)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Ptosis (HP:0000508)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LTBP3
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Glaucoma (HP:0000501)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: LTBP3
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LTBP3
Phenotype: Exotropia (HP:0000577)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP3
Phenotype: Shallow orbits (HP:0000586)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Keratoconus (HP:0000563)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Keratoconus (HP:0000563)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LTBP3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Esotropia (HP:0000565)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: LTBP3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP3
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: LTBP3
Phenotype: Talipes (HP:0001883)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP3
Phenotype: Myopia (HP:0000545)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LTBP3
Phenotype: Myopia (HP:0000545)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LTBP3
Phenotype: Myopia (HP:0000545)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Myopia (HP:0000545)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Myopia (HP:0000545)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: LTC4S
Phenotype: Hypotonia (HP:0001252)
Associated disease: LEUKOTRIENE C4 SYNTHASE DEFICIENCY (OMIM:614037)
Gene: LTC4S
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LEUKOTRIENE C4 SYNTHASE DEFICIENCY (OMIM:614037)
Gene: LTC4S
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKOTRIENE C4 SYNTHASE DEFICIENCY (OMIM:614037)
Gene: LTC4S
Phenotype: Microcephaly (HP:0000252)
Associated disease: LEUKOTRIENE C4 SYNTHASE DEFICIENCY (OMIM:614037)
Gene: LTC4S
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: LEUKOTRIENE C4 SYNTHASE DEFICIENCY (OMIM:614037)
Gene: LTC4S
Phenotype: Death in infancy (HP:0001522)
Associated disease: LEUKOTRIENE C4 SYNTHASE DEFICIENCY (OMIM:614037)
Gene: LTC4S
Phenotype: Reduced circulating leukotriene C4 concentration (HP:0030390)
Associated disease: LEUKOTRIENE C4 SYNTHASE DEFICIENCY (OMIM:614037)
Gene: LYN
Phenotype: Abnormal circulating IgG concentration (HP:0410242)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Increased total T cell count (HP:0100828)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Colitis (HP:0002583)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Anti-thyroid peroxidase antibody positivity (HP:0025379)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Cholestasis (HP:0001396)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Lupus anticoagulant (HP:0025343)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Arthritis (HP:0001369)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Epididymitis (HP:0000031)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Oral ulcer (HP:0000155)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Abdominal pain (HP:0002027)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Diarrhea (HP:0002014)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Frontal bossing (HP:0002007)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Periorbital edema (HP:0100539)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Asthma (HP:0002099)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Parotitis (HP:0011850)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Small vessel vasculitis (HP:0011944)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Urticaria (HP:0001025)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Headache (HP:0002315)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Erythema (HP:0010783)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Neonatal onset (HP:0003623)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Congenital hydrocele (HP:4000037)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Fever (HP:0001945)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Anemia (HP:0001903)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Increased circulating interleukin 6 concentration (HP:0030783)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Purpura (HP:0000979)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Jaundice (HP:0000952)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Anti-Sm antibody positivity (HP:0033040)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Arthralgia (HP:0002829)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Failure to thrive (HP:0001508)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Fatigue (HP:0012378)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Hepatic calcification (HP:0006559)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Rheumatoid factor positive (HP:0002923)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Hypertelorism (HP:0000316)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Premature birth (HP:0001622)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Antimitochondrial antibody positivity (HP:0030167)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Splenomegaly (HP:0001744)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Increased total B cell count (HP:0005404)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: LYN
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Gene: SH2D1A
Phenotype: Hepatic encephalopathy (HP:0002480)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: SH2D1A
Phenotype: Increased total lymphocyte count (HP:0100827)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: SH2D1A
Phenotype: Meningitis (HP:0001287)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: SH2D1A
Phenotype: Abnormal B cell count (HP:0010975)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: SH2D1A
Phenotype: Hepatic failure (HP:0001399)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: SH2D1A
Phenotype: Lymphoma (HP:0002665)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: SH2D1A
Phenotype: Vasculitis (HP:0002633)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: SH2D1A
Phenotype: Abnormal natural killer cell physiology (HP:0012177)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: SH2D1A
Phenotype: Hemophagocytosis (HP:0012156)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: SH2D1A
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: SH2D1A
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: SH2D1A
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: SH2D1A
Phenotype: Fulminant hepatitis (HP:0004787)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: SH2D1A
Phenotype: Increased circulating IgM level (HP:0003496)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: SH2D1A
Phenotype: Abnormal T cell count (HP:0011839)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: SH2D1A
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: SH2D1A
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: SH2D1A
Phenotype: Recurrent pharyngitis (HP:0100776)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: SH2D1A
Phenotype: Infectious encephalitis (HP:0002383)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)