TaoMedAI/RareMedData huggingface dataset:
Gene: SMAD4
Phenotype: Arteriovenous malformation (HP:0100026)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Autism (HP:0000717)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Psychosis (HP:0000709)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Atypical behavior (HP:0000708)
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: Childhood onset (HP:0011463)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Paroxysmal dyspnea (HP:0012763)
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 chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Spontaneous, recurrent epistaxis (HP:0004406)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Platyspondyly (HP:0000926)
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: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Abnormal pubic bone morphology (HP:0003172)
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: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Craniofacial hyperostosis (HP:0004493)
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: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD4
Phenotype: Broad ribs (HP:0000885)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Unilateral cleft lip (HP:0100333)
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: Diabetes mellitus (HP:0000819)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: SMAD4
Phenotype: Precocious puberty (HP:0000826)
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: Hypertension (HP:0000822)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Hypertension (HP:0000822)
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: Hypertension (HP:0000822)
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: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD4
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: External genital hypoplasia (HP:0003241)
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: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD4
Phenotype: Bruising susceptibility (HP:0000978)
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: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Jaundice (HP:0000952)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: SMAD4
Phenotype: Edema (HP:0000969)
Associated disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Gene: SMAD4
Phenotype: Cutis marmorata (HP:0000965)
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: Sacral dimple (HP:0000960)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Abnormal metaphysis morphology (HP:0000944)
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: Sparse hair (HP:0008070)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Short finger (HP:0009381)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Retrognathia (HP:0000278)
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: Macrocephaly (HP:0000256)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Malar flattening (HP:0000272)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Abdominal aortic aneurysm (HP:0005112)
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: Retinal telangiectasia (HP:0007763)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Kyphosis (HP:0002808)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Neoplasm of the liver (HP:0002896)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: SMAD4
Phenotype: Microcephaly (HP:0000252)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Respiratory failure (HP:0002878)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Lip telangiectasia (HP:0000214)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Exertional dyspnea (HP:0002875)
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: Neoplasm of the pancreas (HP:0002894)
Associated disease: PANCREATIC CANCER (OMIM:260350)
Gene: SMAD4
Phenotype: Thin vermilion border (HP:0000233)
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: Tongue telangiectasia (HP:0000227)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Melanoma (HP:0002861)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: SMAD4
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD4
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD4
Phenotype: Hypoplastic iliac wing (HP:0002866)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: SMAD4
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Stiff skin (HP:0030053)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Intrauterine growth retardation (HP:0001511)
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: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Growth delay (HP:0001510)
Associated disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Gene: SMAD4
Phenotype: Obesity (HP:0001513)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD4
Phenotype: Camptodactyly (HP:0012385)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Small earlobe (HP:0000385)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Abnormal cardiovascular system physiology (HP:0011025)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Hepatic arteriovenous malformation (HP:0006574)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Hepatic arteriovenous malformation (HP:0006574)
Associated disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (OMIM:175050)
Gene: SMAD4
Phenotype: Functional intestinal obstruction (HP:0005249)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: SMAD4
Phenotype: Pulmonary arteriovenous malformation (HP:0006548)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Pulmonary arteriovenous malformation (HP:0006548)
Associated disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (OMIM:175050)
Gene: SMAD4
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Gene: SMAD4
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: SMAD4
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: SMAD4
Phenotype: Hypokalemia (HP:0002900)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: SMAD4
Phenotype: Abnormal left ventricular function (HP:0005162)
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: Hearing impairment (HP:0000365)
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: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Extrahepatic cholestasis (HP:0012334)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: SMAD4
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Low-set ears (HP:0000369)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
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: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD4
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Coronary artery atherosclerosis (HP:0001677)
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 valve stenosis (HP:0001650)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Bicuspid aortic valve (HP:0001647)
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: Hypertelorism (HP:0000316)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Hypertelorism (HP:0000316)
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: Patent ductus arteriosus (HP:0001643)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Patent ductus arteriosus (HP:0001643)
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: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Hypoplasia of the maxilla (HP:0000327)
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: Aortic regurgitation (HP:0001659)
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: Short philtrum (HP:0000322)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (OMIM:175050)
Gene: SMAD4
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
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: SMAD4
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD4
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Mandibular prognathia (HP:0000303)
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: Mitral valve prolapse (HP:0001634)
Associated disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (OMIM:175050)
Gene: SMAD4
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: SMAD4
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: SMAD4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Strabismus (HP:0000486)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Short neck (HP:0000470)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
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: SMAD4
Phenotype: Short foot (HP:0001773)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Small intestinal polyposis (HP:0030256)
Associated disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Gene: SMAD4
Phenotype: Chronic fatigue (HP:0012432)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: SMAD4
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
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: SMAD4
Phenotype: Nasal mucosa telangiectasia (HP:0000434)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Epistaxis (HP:0000421)
Associated disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (OMIM:175050)
Gene: SMAD4
Phenotype: Epistaxis (HP:0000421)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: SMAD4
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: SMAD4
Phenotype: Duodenal adenocarcinoma (HP:0006771)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: SMAD4
Phenotype: Cataract (HP:0000518)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Cataract (HP:0000518)
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: Overlapping toe (HP:0001845)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
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: SMAD4
Phenotype: Conjunctival telangiectasia (HP:0000524)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: SMAD4
Phenotype: Long eyelashes (HP:0000527)
Associated disease: MYHRE SYNDROME (OMIM:139210)