TaoMedAI/RareMedData huggingface dataset:
Gene: MAB21L1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Low-set ears (HP:0000369)
Associated disease: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME (OMIM:618479)
Gene: MAB21L1
Phenotype: Long philtrum (HP:0000343)
Associated disease: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME (OMIM:618479)
Gene: MAB21L1
Phenotype: Long philtrum (HP:0000343)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Small forehead (HP:0000350)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME (OMIM:618479)
Gene: MAB21L1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME (OMIM:618479)
Gene: MAB21L1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Strabismus (HP:0000486)
Associated disease: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME (OMIM:618479)
Gene: MAB21L1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME (OMIM:618479)
Gene: MAB21L1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Short neck (HP:0000470)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Protruding ear (HP:0000411)
Associated disease: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME (OMIM:618479)
Gene: MAB21L1
Phenotype: Long eyelashes (HP:0000527)
Associated disease: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME (OMIM:618479)
Gene: MAB21L1
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Visual impairment (HP:0000505)
Associated disease: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME (OMIM:618479)
Gene: MAB21L1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Broad eyebrow (HP:0011229)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Laterally extended eyebrow (HP:0011230)
Associated disease: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME (OMIM:618479)
Gene: MAB21L1
Phenotype: Buphthalmos (HP:0000557)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Buphthalmos (HP:0000557)
Associated disease: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME (OMIM:618479)
Gene: MAB21L1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME (OMIM:618479)
Gene: SMAD2
Phenotype: Crumpled ear (HP:0009901)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SMAD2
Phenotype: Adducted thumb (HP:0001181)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SMAD2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SMAD2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Gene: SMAD2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: SMAD2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: SMAD2
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: SMAD2
Phenotype: Pulmonary valve atresia (HP:0010882)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY (OMIM:619657)
Gene: SMAD2
Phenotype: Osteochondritis dissecans (HP:0010886)
Associated disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Gene: SMAD2
Phenotype: Sporadic (HP:0003745)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD2
Phenotype: Minimal subcutaneous fat (HP:0003717)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD2
Phenotype: Stroke (HP:0001297)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: SMAD2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD2
Phenotype: Motor delay (HP:0001270)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SMAD2
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY (OMIM:619657)
Gene: SMAD2
Phenotype: Hypotonia (HP:0001252)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Hypotonia (HP:0001252)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY (OMIM:619657)
Gene: SMAD2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD2
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SMAD2
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY (OMIM:619657)
Gene: SMAD2
Phenotype: Telangiectases of the cheeks (HP:0007421)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD2
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Metacarpophalangeal joint hyperextensibility (HP:0006099)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Tall stature (HP:0000098)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD2
Phenotype: Tall stature (HP:0000098)
Associated disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Gene: SMAD2
Phenotype: Tall stature (HP:0000098)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: SMAD2
Phenotype: Tall stature (HP:0000098)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: SMAD2
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SMAD2
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD2
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: SMAD2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Gene: SMAD2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: SMAD2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD2
Phenotype: Pregnancy history (HP:0002686)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: SMAD2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Gene: SMAD2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: SMAD2
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: SMAD2
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD2
Phenotype: Hypermobility of distal interphalangeal joints (HP:0006201)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Hip osteoarthritis (HP:0008843)
Associated disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Gene: SMAD2
Phenotype: Combined cystic and ground-glass pattern on pulmonary HRCT (HP:0025395)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Nodular pattern on pulmonary HRCT (HP:0025392)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Carotid cavernous fistula (HP:0031157)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY (OMIM:619657)
Gene: SMAD2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Gene: SMAD2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY (OMIM:619657)
Gene: SMAD2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SMAD2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD2
Phenotype: Scoliosis (HP:0002650)
Associated disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Gene: SMAD2
Phenotype: Scoliosis (HP:0002650)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SMAD2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD2
Phenotype: Scoliosis (HP:0002650)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: SMAD2
Phenotype: Scoliosis (HP:0002650)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: SMAD2
Phenotype: Aortic dissection (HP:0002647)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD2
Phenotype: Aortic dissection (HP:0002647)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: SMAD2
Phenotype: Aortic dissection (HP:0002647)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: SMAD2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Varicose veins (HP:0002619)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Varicose veins (HP:0002619)
Associated disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Gene: SMAD2
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SMAD2
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD2
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD2
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: SMAD2
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: SMAD2
Phenotype: Pulmonary bulla (HP:0032446)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Pulmonary bleb (HP:0032447)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Narrow palate (HP:0000189)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD2
Phenotype: Narrow palate (HP:0000189)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Gene: SMAD2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: SMAD2
Phenotype: Carotid artery dissection (HP:0012158)
Associated disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Gene: SMAD2
Phenotype: Carotid artery dissection (HP:0012158)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD2
Phenotype: Carotid artery dilatation (HP:0012163)
Associated disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Gene: SMAD2
Phenotype: Carotid artery dilatation (HP:0012163)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: SMAD2
Phenotype: Hemothorax (HP:0012151)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: SMAD2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Uterine prolapse (HP:0000139)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD2
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY (OMIM:619657)
Gene: SMAD2
Phenotype: Calf muscle hypoplasia (HP:0008962)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SMAD2
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: SMAD2
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY (OMIM:619657)
Gene: SMAD2
Phenotype: Diffuse alveolar hemorrhage (HP:0025420)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Gene: SMAD2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)