TaoMedAI/RareMedData huggingface dataset:
Gene: ITGA2B
Phenotype: Impaired ristocetin-induced platelet aggregation (HP:0011871)
Associated disease: GLANZMANN THROMBASTHENIA 1 (OMIM:273800)
Gene: ITGA2B
Phenotype: Impaired ristocetin-induced platelet aggregation (HP:0011871)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGA2B
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGA2B
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: GLANZMANN THROMBASTHENIA 1 (OMIM:273800)
Gene: ITGA2B
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2B
Phenotype: Melena (HP:0002249)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2B
Phenotype: Impaired platelet aggregation (HP:0003540)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 16 (OMIM:187800)
Gene: ITGA2B
Phenotype: Impaired platelet aggregation (HP:0003540)
Associated disease: GLANZMANN THROMBASTHENIA 1 (OMIM:273800)
Gene: ITGA2B
Phenotype: Impaired ADP-induced platelet aggregation (HP:0004866)
Associated disease: GLANZMANN THROMBASTHENIA 1 (OMIM:273800)
Gene: ITGA2B
Phenotype: Impaired ADP-induced platelet aggregation (HP:0004866)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGA2B
Phenotype: Impaired collagen-induced platelet aggregation (HP:0008320)
Associated disease: GLANZMANN THROMBASTHENIA 1 (OMIM:273800)
Gene: ITGA2B
Phenotype: Prolonged bleeding after surgery (HP:0004846)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGA2B
Phenotype: Neonatal alloimmune thrombocytopenia (HP:0004809)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2B
Phenotype: Neonatal onset (HP:0003623)
Associated disease: GLANZMANN THROMBASTHENIA 1 (OMIM:273800)
Gene: ITGA2B
Phenotype: Decreased platelet glycoprotein IIb-IIIa (HP:0001975)
Associated disease: GLANZMANN THROMBASTHENIA 1 (OMIM:273800)
Gene: ITGA2B
Phenotype: Blindness (HP:0000618)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2B
Phenotype: Anemia (HP:0001903)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 16 (OMIM:187800)
Gene: ITGA2B
Phenotype: Giant platelets (HP:0001902)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 16 (OMIM:187800)
Gene: ITGA2B
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: GLANZMANN THROMBASTHENIA 1 (OMIM:273800)
Gene: ITGA2B
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGA2B
Phenotype: Menometrorrhagia (HP:0400008)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGA2B
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2B
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2B
Phenotype: Hematuria (HP:0000790)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2B
Phenotype: Spontaneous, recurrent epistaxis (HP:0004406)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGA2B
Phenotype: Subdural hemorrhage (HP:0100309)
Associated disease: GLANZMANN THROMBASTHENIA 1 (OMIM:273800)
Gene: ITGA2B
Phenotype: Purpura (HP:0000979)
Associated disease: GLANZMANN THROMBASTHENIA 1 (OMIM:273800)
Gene: ITGA2B
Phenotype: Purpura (HP:0000979)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2B
Phenotype: Purpura (HP:0000979)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGA2B
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGA2B
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: GLANZMANN THROMBASTHENIA 1 (OMIM:273800)
Gene: ITGA2B
Phenotype: Petechiae (HP:0000967)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 16 (OMIM:187800)
Gene: ITGA2B
Phenotype: Petechiae (HP:0000967)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2B
Phenotype: Macrothrombocytopenia (HP:0040185)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 16 (OMIM:187800)
Gene: ITGA2B
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: GLANZMANN THROMBASTHENIA 1 (OMIM:273800)
Gene: ITGA2B
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGA2B
Phenotype: Ecchymosis (HP:0031364)
Associated disease: GLANZMANN THROMBASTHENIA 1 (OMIM:273800)
Gene: ITGA2B
Phenotype: Ecchymosis (HP:0031364)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGA2B
Phenotype: Ecchymosis (HP:0031364)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2B
Phenotype: Excessive bleeding from superficial cuts (HP:0030138)
Associated disease: GLANZMANN THROMBASTHENIA 1 (OMIM:273800)
Gene: ITGA2B
Phenotype: Prolonged bleeding following circumcision (HP:0030137)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGA2B
Phenotype: Epistaxis (HP:0000421)
Associated disease: GLANZMANN THROMBASTHENIA 1 (OMIM:273800)
Gene: ITGA2B
Phenotype: Macroscopic hematuria (HP:0012587)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGA2B
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 16 (OMIM:187800)
Gene: ITGA2B
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2B
Phenotype: Cephalohematoma (HP:0012541)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2B
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 16 (OMIM:187800)
Gene: ITGA3
Phenotype: Hypotonia (HP:0001252)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Proteinuria (HP:0000093)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Renal tubular atrophy (HP:0000092)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Narrow mouth (HP:0000160)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Respiratory acidosis (HP:0005972)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Respiratory distress (HP:0002098)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Congenital onset (HP:0003577)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Fine hair (HP:0002213)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Fragile skin (HP:0001030)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Erythema (HP:0010783)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Neonatal onset (HP:0003623)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Gynecomastia (HP:0000771)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Narrow chest (HP:0000774)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Microcephaly (HP:0000252)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Decreased glomerular filtration rate (HP:0012213)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Round face (HP:0000311)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Macrotia (HP:0000400)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Prominent nose (HP:0000448)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Onycholysis (HP:0001806)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Gene: ITGA7
Phenotype: Poor head control (HP:0002421)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Pelvic girdle muscle weakness (HP:0003749)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Motor delay (HP:0001270)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY (OMIM:613204)
Gene: ITGA7
Phenotype: Motor delay (HP:0001270)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Areflexia (HP:0001284)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Hypotonia (HP:0001252)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Hypotonia (HP:0001252)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY (OMIM:613204)
Gene: ITGA7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY (OMIM:613204)
Gene: ITGA7
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Flexion contracture (HP:0001371)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY (OMIM:613204)
Gene: ITGA7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY (OMIM:613204)
Gene: ITGA7
Phenotype: Scoliosis (HP:0002650)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY (OMIM:613204)
Gene: ITGA7
Phenotype: Scoliosis (HP:0002650)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Dysphagia (HP:0002015)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Type 1 muscle fiber atrophy (HP:0011807)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Gowers sign (HP:0003391)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY (OMIM:613204)
Gene: ITGA7
Phenotype: Myopathic facies (HP:0002058)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Abnormal skeletal morphology (HP:0011842)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Infantile onset (HP:0003593)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY (OMIM:613204)
Gene: ITGA7
Phenotype: Congenital onset (HP:0003577)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY (OMIM:613204)
Gene: ITGA7
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Intercostal muscle weakness (HP:0004878)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY (OMIM:613204)
Gene: ITGA7
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY (OMIM:613204)
Gene: ITGA7
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Headache (HP:0002315)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Dental crowding (HP:0000678)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Hypoplasia of the musculature (HP:0009004)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Poor appetite (HP:0004396)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Weakness of muscles of respiration (HP:0004347)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Flexion contracture of finger (HP:0012785)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY (OMIM:613204)
Gene: ITGA7
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY (OMIM:613204)
Gene: ITGA7
Phenotype: Hip contracture (HP:0003273)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Long face (HP:0000276)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Respiratory failure (HP:0002878)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: High palate (HP:0000218)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Fatigue (HP:0012378)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Impaired mastication (HP:0005216)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Hoarse voice (HP:0001609)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Micrognathia (HP:0000347)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Cor pulmonale (HP:0001648)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Torticollis (HP:0000473)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY (OMIM:613204)
Gene: ITGA7
Phenotype: Hypercapnia (HP:0012416)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Hypoxemia (HP:0012418)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Pes cavus (HP:0001761)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Weight loss (HP:0001824)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ITGA7
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY (OMIM:613204)
Gene: ITGAM
Phenotype: Anti-La/SS-B antibody positivity (HP:0032235)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Anti-nucleoporin 62 antibody positivity (HP:0033556)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Cheilitis (HP:0100825)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Seizure (HP:0001250)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Proteinuria (HP:0000093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Arthritis (HP:0001369)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Malaise (HP:0033834)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Pyuria (HP:0012085)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Lupus nephritis (HP:0033726)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)