TaoMedAI/RareMedData huggingface dataset:
Gene: HYOU1
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA (OMIM:233600)
Gene: HYOU1
Phenotype: High palate (HP:0000218)
Associated disease: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA (OMIM:233600)
Gene: HYOU1
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA (OMIM:233600)
Gene: HYOU1
Phenotype: Micrognathia (HP:0000347)
Associated disease: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA (OMIM:233600)
Gene: HYOU1
Phenotype: Herpes simplex encephalitis (HP:0012302)
Associated disease: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA (OMIM:233600)
Gene: HYOU1
Phenotype: Oval face (HP:0000300)
Associated disease: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA (OMIM:233600)
Gene: HYOU1
Phenotype: Narrow nose (HP:0000460)
Associated disease: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA (OMIM:233600)
Gene: HYOU1
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA (OMIM:233600)
Gene: HYOU1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA (OMIM:233600)
Gene: HYOU1
Phenotype: Decreased class-switched memory B cell proportion (HP:0030388)
Associated disease: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA (OMIM:233600)
Gene: IPO8
Phenotype: Crumpled ear (HP:0009901)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: IPO8
Phenotype: Adducted thumb (HP:0001181)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: IPO8
Phenotype: Fetal distress (HP:0025116)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: IPO8
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: IPO8
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: IPO8
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: IPO8
Phenotype: Eosinophilic infiltration of the esophagus (HP:0410151)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: IPO8
Phenotype: Sporadic (HP:0003745)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: IPO8
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Minimal subcutaneous fat (HP:0003717)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: IPO8
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: IPO8
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: IPO8
Phenotype: Malposition of the stomach (HP:0100802)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Motor delay (HP:0001270)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Motor delay (HP:0001270)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: IPO8
Phenotype: Hypotonia (HP:0001252)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Hypotonia (HP:0001252)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: IPO8
Phenotype: Hypotonia (HP:0001252)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: IPO8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: IPO8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: IPO8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: IPO8
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: IPO8
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Telangiectases of the cheeks (HP:0007421)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: IPO8
Phenotype: Prominent superficial blood vessels (HP:0007394)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Drug allergy (HP:0410323)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Metacarpophalangeal joint hyperextensibility (HP:0006099)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Tall stature (HP:0000098)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Tall stature (HP:0000098)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: IPO8
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: IPO8
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: IPO8
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: IPO8
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: IPO8
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: IPO8
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: IPO8
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: IPO8
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: IPO8
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: IPO8
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: IPO8
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: IPO8
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: IPO8
Phenotype: Hypermobility of distal interphalangeal joints (HP:0006201)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Combined cystic and ground-glass pattern on pulmonary HRCT (HP:0025395)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Nodular pattern on pulmonary HRCT (HP:0025392)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Carotid cavernous fistula (HP:0031157)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: IPO8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: IPO8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: IPO8
Phenotype: Scoliosis (HP:0002650)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Scoliosis (HP:0002650)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: IPO8
Phenotype: Scoliosis (HP:0002650)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: IPO8
Phenotype: Scoliosis (HP:0002650)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: IPO8
Phenotype: Scoliosis (HP:0002650)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: IPO8
Phenotype: Aortic dissection (HP:0002647)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Aortic dissection (HP:0002647)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: IPO8
Phenotype: Varicose veins (HP:0002619)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: IPO8
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: IPO8
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: IPO8
Phenotype: Pulmonary bulla (HP:0032446)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Pulmonary bleb (HP:0032447)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Celiac disease (HP:0002608)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Narrow palate (HP:0000189)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: IPO8
Phenotype: Narrow palate (HP:0000189)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Cleft soft palate (HP:0000185)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Bifid uvula (HP:0000193)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Bifid uvula (HP:0000193)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: IPO8
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: IPO8
Phenotype: Carotid artery dissection (HP:0012158)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: IPO8
Phenotype: Carotid artery dilatation (HP:0012163)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Hemothorax (HP:0012151)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Macroglossia (HP:0000158)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Cleft palate (HP:0000175)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: IPO8
Phenotype: Uterine prolapse (HP:0000139)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Calf muscle hypoplasia (HP:0008962)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: IPO8
Phenotype: High, narrow palate (HP:0002705)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Coronary sinus enlargement (HP:0031298)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Diffuse alveolar hemorrhage (HP:0025420)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: IPO8
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: IPO8
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: IPO8
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Dysphagia (HP:0002015)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: IPO8
Phenotype: Frontal bossing (HP:0002007)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: IPO8
Phenotype: Butterfly vertebrae (HP:0003316)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Spondylolisthesis (HP:0003302)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Submucous cleft soft palate (HP:0011819)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Asthma (HP:0002099)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Asthma (HP:0002099)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: IPO8
Phenotype: Emphysema (HP:0002097)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Emphysema (HP:0002097)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Emphysema (HP:0002097)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Dyspnea (HP:0002094)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Microspherophakia (HP:0030961)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Medial rotation of the medial malleolus (HP:0008132)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: IPO8
Phenotype: Equinus calcaneus (HP:0008138)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Duodenitis (HP:0033117)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Patellar subluxation (HP:0010499)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: IPO8
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: IPO8
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: IPO8
Phenotype: Spontaneous pneumothorax (HP:0002108)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Spontaneous pneumothorax (HP:0002108)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: IPO8
Phenotype: Pneumothorax (HP:0002107)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Pneumothorax (HP:0002107)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Pneumothorax (HP:0002107)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Hemoptysis (HP:0002105)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: IPO8
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: IPO8
Phenotype: Long toe (HP:0010511)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Infantile onset (HP:0003593)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: IPO8
Phenotype: Congenital onset (HP:0003577)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: IPO8
Phenotype: Congenital onset (HP:0003577)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: IPO8
Phenotype: Uterine rupture (HP:0100718)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Uterine rupture (HP:0100718)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: IPO8
Phenotype: Incisional hernia (HP:0004872)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Dural ectasia (HP:0100775)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Chest pain (HP:0100749)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Knee contracture (HP:0034671)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: IPO8
Phenotype: Thoracic lordosis (HP:0430043)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Dermal translucency (HP:0010648)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Severely increased total eosinophil count (HP:0032061)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: IPO8
Phenotype: Arterial rupture (HP:0025019)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Striae distensae (HP:0001065)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Striae distensae (HP:0001065)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: IPO8
Phenotype: Fragile skin (HP:0001030)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Soft, doughy skin (HP:0001027)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: IPO8
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Developmental regression (HP:0002376)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Hirsutism (HP:0001007)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Cystocele (HP:0100645)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Broad uvula (HP:0010809)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Cigarette-paper scars (HP:0001073)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: IPO8
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Congenital kyphoscoliosis (HP:0008453)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: IPO8
Phenotype: C1-C2 vertebral abnormality (HP:0008440)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: IPO8
Phenotype: Osteolytic defects of the phalanges of the hand (HP:0009771)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Generalized arterial tortuosity (HP:0004955)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: IPO8
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: IPO8
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Tortuous cerebral arteries (HP:0004938)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Pulmonary artery aneurysm (HP:0004937)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Ascending aortic dissection (HP:0004933)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: IPO8
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: IPO8
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: IPO8
Phenotype: Pulmonary artery dilatation (HP:0004927)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Recurrent joint dislocation (HP:0031869)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Iliac artery aneurysm (HP:4000067)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Nystagmus (HP:0000639)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Abnormal thrombosis (HP:0001977)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)