TaoMedAI/RareMedData huggingface dataset:
Gene: SMAD4
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: SMAD4
Phenotype: Aortic dissection (HP:0002647)
Associated disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (OMIM:175050)
Gene: SMAD4
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
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: SMAD4
Phenotype: Gastrointestinal arteriovenous malformation (HP:0002629)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD4
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Bifid uvula (HP:0000193)
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: 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: SMAD4
Phenotype: Narrow mouth (HP:0000160)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Narrow mouth (HP:0000160)
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: Abnormal lip morphology (HP:0000159)
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: Submucous cleft hard palate (HP:0000176)
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: Cleft palate (HP:0000175)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Cleft palate (HP:0000175)
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: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Hypogonadism (HP:0000135)
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: Increased level of L-fucose in urine (HP:0410067)
Associated disease: PANCREATIC CANCER (OMIM:260350)
Gene: SMAD4
Phenotype: Cleft lip (HP:0410030)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
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: SMAD4
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: PANCREATIC CANCER (OMIM:260350)
Gene: SMAD4
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: SMAD4
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: SMAD4
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: SMAD4
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: SMAD4
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Abdominal pain (HP:0002027)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: SMAD4
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: SMAD4
Phenotype: Diarrhea (HP:0002014)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: SMAD4
Phenotype: Enlarged vertebral pedicles (HP:0004621)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Midface retrusion (HP:0011800)
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: Femoral hernia (HP:0100541)
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: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Migraine (HP:0002076)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Esophageal varix (HP:0002040)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Anorexia (HP:0002039)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: SMAD4
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD4
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Mucosal telangiectasiae (HP:0100579)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Peritoneal abscess (HP:0100592)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: SMAD4
Phenotype: Abnormal epiphysis morphology (HP:0005930)
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: Ischemic stroke (HP:0002140)
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: Subarachnoid hemorrhage (HP:0002138)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Subarachnoid hemorrhage (HP:0002138)
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: Juvenile gastrointestinal polyposis (HP:0004784)
Associated disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (OMIM:175050)
Gene: SMAD4
Phenotype: Duodenal polyposis (HP:0004783)
Associated disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Gene: SMAD4
Phenotype: EMG abnormality (HP:0003457)
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: Pneumothorax (HP:0002107)
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: Hemoptysis (HP:0002105)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Hemoptysis (HP:0002105)
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: Back pain (HP:0003418)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: SMAD4
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Intermittent diarrhea (HP:0002254)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: SMAD4
Phenotype: Adult onset (HP:0003581)
Associated disease: PANCREATIC CANCER (OMIM:260350)
Gene: SMAD4
Phenotype: Abnormality of connective tissue (HP:0003549)
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: Laryngotracheal stenosis (HP:0004894)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Birth length less than 3rd percentile (HP:0003561)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Fine hair (HP:0002213)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Mucoid extracellular matrix accumulation (HP:0200146)
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: Peripheral arteriovenous fistula (HP:0100784)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Dural ectasia (HP:0100775)
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: Chest pain (HP:0100749)
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: Visceral angiomatosis (HP:0100761)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Severe short stature (HP:0003510)
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: Telangiectasia (HP:0001009)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Telangiectasia (HP:0001009)
Associated disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (OMIM:175050)
Gene: SMAD4
Phenotype: Anemic pallor (HP:0001017)
Associated disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Gene: SMAD4
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD4
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Transient ischemic attack (HP:0002326)
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: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Intestinal polyposis (HP:0200008)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Thickened skin (HP:0001072)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Thickened skin (HP:0001072)
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: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: High hypermetropia (HP:0008499)
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: Keratosis pilaris (HP:0032152)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD4
Phenotype: Descending thoracic aorta aneurysm (HP:0004959)
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: Venous thrombosis (HP:0004936)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Ascending aortic dissection (HP:0004933)
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: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD4
Phenotype: Peripheral arterial stenosis (HP:0004950)
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: Dilatation of the cerebral artery (HP:0004944)
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: Aortic aneurysm (HP:0004942)
Associated disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (OMIM:175050)
Gene: SMAD4
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD4
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Short palm (HP:0004279)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Short palm (HP:0004279)
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: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD4
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD4
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Anemia (HP:0001903)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: SMAD4
Phenotype: Anemia (HP:0001903)
Associated disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (OMIM:175050)
Gene: SMAD4
Phenotype: Anemia (HP:0001903)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD4
Phenotype: Anemia (HP:0001903)
Associated disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Gene: SMAD4
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD4
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Short stature (HP:0004322)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: SMAD4
Phenotype: Colon cancer (HP:0003003)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: SMAD4
Phenotype: Colon cancer (HP:0003003)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: SMAD4
Phenotype: Colon cancer (HP:0003003)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: SMAD4
Phenotype: Gingival cleft (HP:0030690)
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: Hypoalbuminemia (HP:0003073)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: SMAD4
Phenotype: Intestinal pseudo-obstruction (HP:0004389)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: SMAD4
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD4
Phenotype: Poor appetite (HP:0004396)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: SMAD4
Phenotype: Multiple gastric polyps (HP:0004394)
Associated disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Gene: SMAD4
Phenotype: Multiple gastric polyps (HP:0004394)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: SMAD4
Phenotype: Hamartomatous polyposis (HP:0004390)
Associated disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (OMIM:175050)
Gene: SMAD4
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD4
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Short long bone (HP:0003026)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Short palpebral fissure (HP:0012745)
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: Hyperactivity (HP:0000752)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Abnormal rib morphology (HP:0000772)
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: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Abnormal sternum morphology (HP:0000766)
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: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)