TaoMedAI/RareMedData huggingface dataset:
Gene: MID1
Phenotype: Short attention span (HP:0000736)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Unilateral cleft lip (HP:0100333)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Ankyloglossia (HP:0010296)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Stridor (HP:0010307)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Microcephaly (HP:0000252)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: High palate (HP:0000218)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: High palate (HP:0000218)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Omphalocele (HP:0001539)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Aspiration (HP:0002835)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Growth delay (HP:0001510)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Hoarse voice (HP:0001609)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Low-set ears (HP:0000369)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Long philtrum (HP:0000343)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Widow's peak (HP:0000349)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Widow's peak (HP:0000349)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Abnormal nasopharynx morphology (HP:0001739)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Strabismus (HP:0000486)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Posterior pharyngeal cleft (HP:0006783)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Telecanthus (HP:0000506)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Telecanthus (HP:0000506)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Ptosis (HP:0000508)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Abnormality of refraction (HP:0000539)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MIF
Phenotype: Nontuberculous mycobacterial pulmonary infection (HP:0032261)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Steatorrhea (HP:0002570)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Reduced forced expiratory volume in one second (HP:0032342)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: MIF
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Arthritis (HP:0001369)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: MIF
Phenotype: Joint swelling (HP:0001386)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: MIF
Phenotype: Anterior uveitis (HP:0012122)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: MIF
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: MIF
Phenotype: Recurrent Staphylococcus aureus infections (HP:0002726)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Recurrent Aspergillus infections (HP:0002724)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Malabsorption (HP:0002024)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: MIF
Phenotype: Asthma (HP:0002099)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: MIF
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: MIF
Phenotype: Elevated pulmonary artery pressure (HP:0004890)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: MIF
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: MIF
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Non-infectious meningitis (HP:0033430)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: MIF
Phenotype: Fever (HP:0001945)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: MIF
Phenotype: Juvenile rheumatoid arthritis (HP:0005681)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: MIF
Phenotype: Anxiety (HP:0000739)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Depression (HP:0000716)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Meconium ileus (HP:0004401)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Absent vas deferens (HP:0012873)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Decreased body mass index (HP:0045082)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: MIF
Phenotype: Male infertility (HP:0003251)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Skin rash (HP:0000988)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: MIF
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Osteopenia (HP:0000938)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: MIF
Phenotype: Osteopenia (HP:0000938)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Elevated sweat chloride (HP:0012236)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Arthralgia (HP:0002829)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: MIF
Phenotype: Sinusitis (HP:0000246)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Growth delay (HP:0001510)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: MIF
Phenotype: Recurrent Burkholderia cepacia infections (HP:0002842)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Airway obstruction (HP:0006536)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: MIF
Phenotype: Recurrent Haemophilus influenzae infections (HP:0005376)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MIF
Phenotype: Pericarditis (HP:0001701)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: MIF
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: MIF
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: MIP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CATARACT 15, MULTIPLE TYPES (OMIM:615274)
Gene: MIP
Phenotype: Congenital onset (HP:0003577)
Associated disease: CATARACT 15, MULTIPLE TYPES (OMIM:615274)
Gene: MIP
Phenotype: Nuclear cataract (HP:0100018)
Associated disease: CATARACT 15, MULTIPLE TYPES (OMIM:615274)
Gene: MIP
Phenotype: Cortical cataract (HP:0100019)
Associated disease: CATARACT 15, MULTIPLE TYPES (OMIM:615274)
Gene: MIP
Phenotype: Lamellar cataract (HP:0007971)
Associated disease: CATARACT 15, MULTIPLE TYPES (OMIM:615274)
Gene: MIPEP
Phenotype: Hypertonia (HP:0001276)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 (OMIM:617228)
Gene: MIPEP
Phenotype: Seizure (HP:0001250)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 (OMIM:617228)
Gene: MIPEP
Phenotype: Hypotonia (HP:0001252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 (OMIM:617228)
Gene: MIPEP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 (OMIM:617228)
Gene: MIPEP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 (OMIM:617228)
Gene: MIPEP
Phenotype: Wide mouth (HP:0000154)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 (OMIM:617228)
Gene: MIPEP
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 (OMIM:617228)
Gene: MIPEP
Phenotype: Midface retrusion (HP:0011800)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 (OMIM:617228)
Gene: MIPEP
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 (OMIM:617228)