TaoMedAI/RareMedData huggingface dataset:
Gene: IRF5
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: IRF5
Phenotype: Arthritis (HP:0001369)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Arthritis (HP:0001369)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: IRF5
Phenotype: Malaise (HP:0033834)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Pyuria (HP:0012085)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Lupus nephritis (HP:0033726)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Malar rash (HP:0025300)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: IRF5
Phenotype: Biliary cirrhosis (HP:0002613)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Celiac disease (HP:0002608)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Osteolysis (HP:0002797)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: IRF5
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Hepatitis (HP:0012115)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Malabsorption (HP:0002024)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: IRF5
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: IRF5
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: IRF5
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: IRF5
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: IRF5
Phenotype: Dysphagia (HP:0002015)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: IRF5
Phenotype: Dysphagia (HP:0002015)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: IRF5
Phenotype: Dyspnea (HP:0002094)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: IRF5
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: IRF5
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: IRF5
Phenotype: Chorea (HP:0002072)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Esophageal varix (HP:0002040)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Anorexia (HP:0002039)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Oliguria (HP:0100520)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: IRF5
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: IRF5
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: IRF5
Phenotype: Mucosal telangiectasiae (HP:0100579)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: IRF5
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: IRF5
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: IRF5
Phenotype: Increased circulating IgM level (HP:0003496)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: IRF5
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: IRF5
Phenotype: Hypertensive crisis (HP:0100735)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: IRF5
Phenotype: Anti-titin antibody positivity (HP:5000038)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Abnormality of salivation (HP:0100755)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Foot joint contracture (HP:0008366)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: IRF5
Phenotype: Dermatographic urticaria (HP:0011971)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: IRF5
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: IRF5
Phenotype: Abnormal pigmentation of the oral mucosa (HP:0100669)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: IRF5
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: IRF5
Phenotype: Anti-dsDNA antibody positivity (HP:0020151)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Anti-ribosome Po antibody positivity (HP:0034076)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Anti-complement component C1q antibody positivity (HP:0034077)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Anti-phosphatidic acid antibody positivity (HP:0034096)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Anti-Ro52/TRIM21 antibody positivity (HP:0034093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Fever (HP:0001945)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Carious teeth (HP:0000670)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: IRF5
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Gastrointestinal inflammation (HP:0004386)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Depression (HP:0000716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Hematuria (HP:0000790)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Abnormal circulating lipid concentration (HP:0003119)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Hypertension (HP:0000822)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Abnormality of the thyroid gland (HP:0000820)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Decreased circulating complement C4 concentration (HP:0045042)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Serositis (HP:0045073)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Increased circulating IgA concentration (HP:0003261)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Pruritus (HP:0000989)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Jaundice (HP:0000952)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: IRF5
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: IRF5
Phenotype: Anti-U1 ribonucleoprotein antibody positivity (HP:0033028)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Anti-Sm antibody positivity (HP:0033040)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Alopecia (HP:0001596)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Arthralgia (HP:0002829)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: IRF5
Phenotype: Onychomycosis (HP:0012203)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Xerostomia (HP:0000217)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: IRF5
Phenotype: Dyspareunia (HP:0030016)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: IRF5
Phenotype: Ascites (HP:0001541)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Fatigue (HP:0012378)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Fatigue (HP:0012378)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Abnormal intrahepatic bile duct morphology (HP:0011040)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Abnormal bowel sounds (HP:0030142)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: IRF5
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: IRF5
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: IRF5
Phenotype: Antimitochondrial antibody positivity (HP:0030167)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: IRF5
Phenotype: Retinopathy (HP:0000488)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Weight loss (HP:0001824)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF6
Phenotype: Split hand (HP:0001171)
Associated disease: Autosomal dominant popliteal pterygium syndrome; Popliteal web syndrome; Facio-genito-popliteal syndrome (ORPHA:1300)
Gene: IRF6
Phenotype: Sporadic (HP:0003745)
Associated disease: OROFACIAL CLEFT 6, SUSCEPTIBILITY TO (OMIM:608864)
Gene: IRF6
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Autosomal dominant popliteal pterygium syndrome; Popliteal web syndrome; Facio-genito-popliteal syndrome (ORPHA:1300)
Gene: IRF6
Phenotype: Hypoplasia of the vagina (HP:0008726)
Associated disease: POPLITEAL PTERYGIUM SYNDROME (OMIM:119500)
Gene: IRF6
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: OROFACIAL CLEFT 6, SUSCEPTIBILITY TO (OMIM:608864)
Gene: IRF6
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Autosomal dominant popliteal pterygium syndrome; Popliteal web syndrome; Facio-genito-popliteal syndrome (ORPHA:1300)
Gene: IRF6
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: Autosomal dominant popliteal pterygium syndrome; Popliteal web syndrome; Facio-genito-popliteal syndrome (ORPHA:1300)
Gene: IRF6
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: POPLITEAL PTERYGIUM SYNDROME (OMIM:119500)
Gene: IRF6
Phenotype: Small scrotum (HP:0000046)
Associated disease: POPLITEAL PTERYGIUM SYNDROME (OMIM:119500)
Gene: IRF6
Phenotype: Small scrotum (HP:0000046)
Associated disease: Autosomal dominant popliteal pterygium syndrome; Popliteal web syndrome; Facio-genito-popliteal syndrome (ORPHA:1300)
Gene: IRF6
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Autosomal dominant popliteal pterygium syndrome; Popliteal web syndrome; Facio-genito-popliteal syndrome (ORPHA:1300)
Gene: IRF6
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: POPLITEAL PTERYGIUM SYNDROME (OMIM:119500)
Gene: IRF6
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: Autosomal dominant popliteal pterygium syndrome; Popliteal web syndrome; Facio-genito-popliteal syndrome (ORPHA:1300)
Gene: IRF6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: POPLITEAL PTERYGIUM SYNDROME (OMIM:119500)
Gene: IRF6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Autosomal dominant popliteal pterygium syndrome; Popliteal web syndrome; Facio-genito-popliteal syndrome (ORPHA:1300)
Gene: IRF6
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: IRF6
Phenotype: Abnormality of masticatory muscle (HP:0410011)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: IRF6
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: IRF6
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Autosomal dominant popliteal pterygium syndrome; Popliteal web syndrome; Facio-genito-popliteal syndrome (ORPHA:1300)
Gene: IRF6
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: POPLITEAL PTERYGIUM SYNDROME (OMIM:119500)
Gene: IRF6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VAN DER WOUDE SYNDROME 1 (OMIM:119300)
Gene: IRF6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OROFACIAL CLEFT 6, SUSCEPTIBILITY TO (OMIM:608864)
Gene: IRF6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: POPLITEAL PTERYGIUM SYNDROME (OMIM:119500)
Gene: IRF6
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal dominant popliteal pterygium syndrome; Popliteal web syndrome; Facio-genito-popliteal syndrome (ORPHA:1300)
Gene: IRF6
Phenotype: Bifid uvula (HP:0000193)
Associated disease: POPLITEAL PTERYGIUM SYNDROME (OMIM:119500)
Gene: IRF6
Phenotype: Bifid uvula (HP:0000193)
Associated disease: VAN DER WOUDE SYNDROME 1 (OMIM:119300)
Gene: IRF6
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Cleft lip/palate with mucous cysts of lower lip; VWS; Van der Woude syndrome; Lip-pit syndrome (ORPHA:888)
Gene: IRF6
Phenotype: Lower lip pit (HP:0000196)
Associated disease: VAN DER WOUDE SYNDROME 1 (OMIM:119300)
Gene: IRF6
Phenotype: Lower lip pit (HP:0000196)
Associated disease: Cleft lip/palate with mucous cysts of lower lip; VWS; Van der Woude syndrome; Lip-pit syndrome (ORPHA:888)
Gene: IRF6
Phenotype: Lower lip pit (HP:0000196)
Associated disease: POPLITEAL PTERYGIUM SYNDROME (OMIM:119500)