TaoMedAI/RareMedData huggingface dataset:
Gene: SMAD3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SMAD3
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Aneurysm-osteoarthritis syndrome (ORPHA:284984)
Gene: SMAD3
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: SMAD3
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD3
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD3
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SMAD3
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: LOEYS-DIETZ SYNDROME 3 (OMIM:613795)
Gene: SMAD3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD3
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SMAD3
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD3
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD3
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD3
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: LOEYS-DIETZ SYNDROME 3 (OMIM:613795)
Gene: SMAD3
Phenotype: Spontaneous cerebrospinal fluid leak (HP:0032934)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD3
Phenotype: Descending aortic dissection (HP:0012499)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD3
Phenotype: Descending aortic dissection (HP:0012499)
Associated disease: LOEYS-DIETZ SYNDROME 3 (OMIM:613795)
Gene: SMAD3
Phenotype: Descending aortic dissection (HP:0012499)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: SMAD3
Phenotype: Aortic tortuosity (HP:0006687)
Associated disease: LOEYS-DIETZ SYNDROME 3 (OMIM:613795)
Gene: SMAD3
Phenotype: Aortic tortuosity (HP:0006687)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD3
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD3
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD3
Phenotype: Macrotia (HP:0000400)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD3
Phenotype: Tricuspid valve prolapse (HP:0001704)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD3
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: Aneurysm-osteoarthritis syndrome (ORPHA:284984)
Gene: SMAD3
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: LOEYS-DIETZ SYNDROME 3 (OMIM:613795)
Gene: SMAD3
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD3
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: LOEYS-DIETZ SYNDROME 3 (OMIM:613795)
Gene: SMAD3
Phenotype: Arterial dissection (HP:0005294)
Associated disease: Aneurysm-osteoarthritis syndrome (ORPHA:284984)
Gene: SMAD3
Phenotype: Arterial dissection (HP:0005294)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: SMAD3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD3
Phenotype: Astigmatism (HP:0000483)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD3
Phenotype: Astigmatism (HP:0000483)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD3
Phenotype: Strabismus (HP:0000486)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD3
Phenotype: Strabismus (HP:0000486)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD3
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD3
Phenotype: Narrow foot (HP:0001786)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD3
Phenotype: Short neck (HP:0000470)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SMAD3
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD3
Phenotype: Hypovolemia (HP:0011106)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: SMAD3
Phenotype: Chronic fatigue (HP:0012432)
Associated disease: Aneurysm-osteoarthritis syndrome (ORPHA:284984)
Gene: SMAD3
Phenotype: Chronic fatigue (HP:0012432)
Associated disease: LOEYS-DIETZ SYNDROME 3 (OMIM:613795)
Gene: SMAD3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD3
Phenotype: Pes planus (HP:0001763)
Associated disease: LOEYS-DIETZ SYNDROME 3 (OMIM:613795)
Gene: SMAD3
Phenotype: Pes planus (HP:0001763)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: SMAD3
Phenotype: Pes planus (HP:0001763)
Associated disease: Aneurysm-osteoarthritis syndrome (ORPHA:284984)
Gene: SMAD3
Phenotype: Pes planus (HP:0001763)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD3
Phenotype: Pes planus (HP:0001763)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD3
Phenotype: Pes planus (HP:0001763)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: SMAD3
Phenotype: Hammertoe (HP:0001765)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD3
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD3
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SMAD3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: LOEYS-DIETZ SYNDROME 3 (OMIM:613795)
Gene: SMAD3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: SMAD3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD3
Phenotype: Pes cavus (HP:0001761)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD3
Phenotype: Cataract (HP:0000518)
Associated disease: LOEYS-DIETZ SYNDROME 3 (OMIM:613795)
Gene: SMAD3
Phenotype: Cataract (HP:0000518)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SMAD3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD3
Phenotype: Foot acroosteolysis (HP:0001842)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD3
Phenotype: Abnormality iris morphology (HP:0000525)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: SMAD3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD3
Phenotype: Proptosis (HP:0000520)
Associated disease: LOEYS-DIETZ SYNDROME 3 (OMIM:613795)
Gene: SMAD3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD3
Phenotype: Proptosis (HP:0000520)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD3
Phenotype: Telecanthus (HP:0000506)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD3
Phenotype: Ptosis (HP:0000508)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD3
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SMAD3
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD3
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD3
Phenotype: Exotropia (HP:0000577)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD3
Phenotype: Exotropia (HP:0000577)
Associated disease: LOEYS-DIETZ SYNDROME 3 (OMIM:613795)
Gene: SMAD3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: LOEYS-DIETZ SYNDROME 3 (OMIM:613795)
Gene: SMAD3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: SMAD3
Phenotype: Shallow orbits (HP:0000586)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD3
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: SMAD3
Phenotype: Keratoconus (HP:0000563)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD3
Phenotype: Keratoconus (HP:0000563)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD3
Phenotype: Esotropia (HP:0000565)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD3
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD3
Phenotype: Talipes (HP:0001883)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD3
Phenotype: Myopia (HP:0000545)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SMAD3
Phenotype: Myopia (HP:0000545)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD3
Phenotype: Myopia (HP:0000545)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: SMAD3
Phenotype: Myopia (HP:0000545)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD3
Phenotype: Myopia (HP:0000545)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD4
Phenotype: Brachydactyly (HP:0001156)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome; Facial dysmorphism-intellectual disability-short stature-deafness syndrome; Myhre-LAPS syndrome; Myhre syndrome; Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome (ORPHA:2588)
Gene: SMAD4
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: SMAD4
Phenotype: Microtia (HP:0008551)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD4
Phenotype: Cerebral arteriovenous malformation (HP:0002408)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Cerebral arteriovenous malformation (HP:0002408)
Associated disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (OMIM:175050)
Gene: SMAD4
Phenotype: Generalized muscle hypertrophy (HP:0003720)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome; Facial dysmorphism-intellectual disability-short stature-deafness syndrome; Myhre-LAPS syndrome; Myhre syndrome; Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome (ORPHA:2588)
Gene: SMAD4
Phenotype: Stroke (HP:0001297)
Associated disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (OMIM:175050)
Gene: SMAD4
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: SMAD4
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD4
Phenotype: Hypertonia (HP:0001276)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Seizure (HP:0001250)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Seizure (HP:0001250)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Ataxia (HP:0001251)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome; Facial dysmorphism-intellectual disability-short stature-deafness syndrome; Myhre-LAPS syndrome; Myhre syndrome; Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome (ORPHA:2588)
Gene: SMAD4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome; Facial dysmorphism-intellectual disability-short stature-deafness syndrome; Myhre-LAPS syndrome; Myhre syndrome; Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome (ORPHA:2588)
Gene: SMAD4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Intussusception (HP:0002576)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: SMAD4
Phenotype: Hematochezia (HP:0002573)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: SMAD4
Phenotype: Hematochezia (HP:0002573)
Associated disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Gene: SMAD4
Phenotype: Hematochezia (HP:0002573)
Associated disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (OMIM:175050)
Gene: SMAD4
Phenotype: Rectal polyposis (HP:0100896)
Associated disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Gene: SMAD4
Phenotype: Duodenal stenosis (HP:0100867)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Clubbing (HP:0001217)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: SMAD4
Phenotype: Clubbing (HP:0001217)
Associated disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (OMIM:175050)
Gene: SMAD4
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD4
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: SMAD4
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Abnormal penis morphology (HP:0000036)
Associated disease: Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome; Facial dysmorphism-intellectual disability-short stature-deafness syndrome; Myhre-LAPS syndrome; Myhre syndrome; Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome (ORPHA:2588)
Gene: SMAD4
Phenotype: Epispadias (HP:0000039)
Associated disease: Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome; Facial dysmorphism-intellectual disability-short stature-deafness syndrome; Myhre-LAPS syndrome; Myhre syndrome; Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome (ORPHA:2588)
Gene: SMAD4
Phenotype: Joint stiffness (HP:0001387)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome; Facial dysmorphism-intellectual disability-short stature-deafness syndrome; Myhre-LAPS syndrome; Myhre syndrome; Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome (ORPHA:2588)
Gene: SMAD4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Hypospadias (HP:0000047)
Associated disease: Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome; Facial dysmorphism-intellectual disability-short stature-deafness syndrome; Myhre-LAPS syndrome; Myhre syndrome; Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome (ORPHA:2588)
Gene: SMAD4
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: SMAD4
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome; Facial dysmorphism-intellectual disability-short stature-deafness syndrome; Myhre-LAPS syndrome; Myhre syndrome; Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome (ORPHA:2588)
Gene: SMAD4
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: SMAD4
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Ovarian carcinoma (HP:0025318)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: SMAD4
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome; Facial dysmorphism-intellectual disability-short stature-deafness syndrome; Myhre-LAPS syndrome; Myhre syndrome; Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome (ORPHA:2588)
Gene: SMAD4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Large iliac wing (HP:0008818)
Associated disease: Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome; Facial dysmorphism-intellectual disability-short stature-deafness syndrome; Myhre-LAPS syndrome; Myhre syndrome; Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome (ORPHA:2588)
Gene: SMAD4
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome; Facial dysmorphism-intellectual disability-short stature-deafness syndrome; Myhre-LAPS syndrome; Myhre syndrome; Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome (ORPHA:2588)
Gene: SMAD4
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD4
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Gastrointestinal carcinoma (HP:0002672)
Associated disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (OMIM:175050)
Gene: SMAD4
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: SMAD4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: SMAD4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PANCREATIC CANCER (OMIM:260350)
Gene: SMAD4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (OMIM:175050)
Gene: SMAD4
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD4
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)