TaoMedAI/RareMedData huggingface dataset:
Gene: DNAH8
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 46 (OMIM:619095)
Gene: DNAH8
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE 46 (OMIM:619095)
Gene: DNAH9
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Reduced forced expiratory volume in one second (HP:0032342)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 40 (OMIM:618300)
Gene: DNAH9
Phenotype: Right aortic arch (HP:0012020)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 40 (OMIM:618300)
Gene: DNAH9
Phenotype: Azoospermia (HP:0000027)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 40 (OMIM:618300)
Gene: DNAH9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 40 (OMIM:618300)
Gene: DNAH9
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Reduced respiratory ciliary beating frequency (HP:0033158)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 40 (OMIM:618300)
Gene: DNAH9
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Congenital onset (HP:0003577)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 40 (OMIM:618300)
Gene: DNAH9
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 40 (OMIM:618300)
Gene: DNAH9
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 40 (OMIM:618300)
Gene: DNAH9
Phenotype: Left Isomerism (HP:0031854)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 40 (OMIM:618300)
Gene: DNAH9
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Cough (HP:0012735)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 40 (OMIM:618300)
Gene: DNAH9
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Childhood onset (HP:0011463)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 40 (OMIM:618300)
Gene: DNAH9
Phenotype: Infertility (HP:0000789)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 40 (OMIM:618300)
Gene: DNAH9
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Congenitally corrected transposition of the great arteries (HP:0011540)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 40 (OMIM:618300)
Gene: DNAH9
Phenotype: Unbalanced atrioventricular canal defect (HP:0011579)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 40 (OMIM:618300)
Gene: DNAH9
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Decreased nasal nitric oxide (HP:0033036)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 40 (OMIM:618300)
Gene: DNAH9
Phenotype: Interrupted inferior vena cava with azygous continuation (HP:0011671)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 40 (OMIM:618300)
Gene: DNAH9
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Absent outer dynein arms (HP:0012256)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 40 (OMIM:618300)
Gene: DNAH9
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 40 (OMIM:618300)
Gene: DNAH9
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 40 (OMIM:618300)
Gene: DNAH9
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 40 (OMIM:618300)
Gene: DNAH9
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 40 (OMIM:618300)
Gene: DNAH9
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH9
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNASE1
Phenotype: Anti-La/SS-B antibody positivity (HP:0032235)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Anti-nucleoporin 62 antibody positivity (HP:0033556)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Cheilitis (HP:0100825)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Seizure (HP:0001250)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: DNASE1
Phenotype: Seizure (HP:0001250)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Proteinuria (HP:0000093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Arthritis (HP:0001369)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Arthritis (HP:0001369)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: DNASE1
Phenotype: Malaise (HP:0033834)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Pyuria (HP:0012085)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Lupus nephritis (HP:0033726)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: DNASE1
Phenotype: Lupus nephritis (HP:0033726)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Malar rash (HP:0025300)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: DNASE1
Phenotype: Malar rash (HP:0025300)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: DNASE1
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Nephritis (HP:0000123)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: DNASE1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Systemic lupus erythematosus (HP:0002725)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: DNASE1
Phenotype: Chorea (HP:0002072)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Anorexia (HP:0002039)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Pleuritis (HP:0002102)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: DNASE1
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: DNASE1
Phenotype: Anti-titin antibody positivity (HP:5000038)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Abnormality of salivation (HP:0100755)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Abnormal pigmentation of the oral mucosa (HP:0100669)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Antiphospholipid antibody positivity (HP:0003613)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: DNASE1
Phenotype: Anti-dsDNA antibody positivity (HP:0020151)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Anti-ribosome Po antibody positivity (HP:0034076)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Anti-complement component C1q antibody positivity (HP:0034077)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Anti-phosphatidic acid antibody positivity (HP:0034096)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Anti-Ro52/TRIM21 antibody positivity (HP:0034093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Fever (HP:0001945)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Depression (HP:0000716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Psychosis (HP:0000709)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: DNASE1
Phenotype: Hematuria (HP:0000790)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Hypertension (HP:0000822)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Decreased circulating complement C4 concentration (HP:0045042)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Serositis (HP:0045073)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: DNASE1
Phenotype: Anti-U1 ribonucleoprotein antibody positivity (HP:0033028)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Anti-Sm antibody positivity (HP:0033040)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Alopecia (HP:0001596)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Fatigue (HP:0012378)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Pericarditis (HP:0001701)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: DNASE1
Phenotype: Retinopathy (HP:0000488)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Weight loss (HP:0001824)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: DNASE1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: DNASE1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: DNASE1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: DNASE1L3
Phenotype: Perinuclear antineutrophil antibody positivity (HP:0032229)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 16 (OMIM:614420)
Gene: DNASE1L3
Phenotype: Glomerulopathy (HP:0100820)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Meningitis (HP:0001287)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Seizure (HP:0001250)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Ataxia (HP:0001251)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Proteinuria (HP:0000093)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Arthritis (HP:0001369)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Lupus nephritis (HP:0033726)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 16 (OMIM:614420)
Gene: DNASE1L3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 16 (OMIM:614420)
Gene: DNASE1L3
Phenotype: Lymphoma (HP:0002665)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Systemic lupus erythematosus (HP:0002725)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 16 (OMIM:614420)
Gene: DNASE1L3
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Myalgia (HP:0003326)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Diarrhea (HP:0002014)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Episcleritis (HP:0100534)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Inflammatory abnormality of the eye (HP:0100533)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Emphysema (HP:0002097)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Dyspnea (HP:0002094)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)