TaoMedAI/RareMedData huggingface dataset:
Gene: EFEMP2
Phenotype: Lack of skin elasticity (HP:0100679)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: EFEMP2
Phenotype: Cigarette-paper scars (HP:0001073)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Joint subluxation (HP:0032153)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: EFEMP2
Phenotype: Congenital kyphoscoliosis (HP:0008453)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Prominence of the premaxilla (HP:0010759)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Dermatochalasis (HP:0010750)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: EFEMP2
Phenotype: Scarring (HP:0100699)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: C1-C2 vertebral abnormality (HP:0008440)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Osteolytic defects of the phalanges of the hand (HP:0009771)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
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: EFEMP2
Phenotype: Generalized arterial tortuosity (HP:0004955)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Generalized arterial tortuosity (HP:0004955)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Peripheral pulmonary artery stenosis (HP:0004969)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: EFEMP2
Phenotype: Pulmonary artery aneurysm (HP:0004937)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Ascending aortic dissection (HP:0004933)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
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: EFEMP2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
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: EFEMP2
Phenotype: Vascular tortuosity (HP:0004948)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
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: EFEMP2
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Pulmonary artery dilatation (HP:0004927)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Pulmonary artery dilatation (HP:0004927)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Multiple bladder diverticula (HP:0012619)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: EFEMP2
Phenotype: Abnormal thrombosis (HP:0001977)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Anemia (HP:0001903)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Abdominal wall muscle weakness (HP:0009023)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Dental crowding (HP:0000678)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: EFEMP2
Phenotype: Short stature (HP:0004322)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Hypermobility of interphalangeal joints (HP:0005620)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: EFEMP2
Phenotype: Premature osteoarthritis (HP:0003088)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Supravalvular aortic stenosis (HP:0004381)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: EFEMP2
Phenotype: Limited knee extension (HP:0003066)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
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: EFEMP2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Periodontitis (HP:0000704)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Childhood onset (HP:0011463)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Young adult onset (HP:0011462)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Increased upper to lower segment ratio (HP:0012774)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
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: EFEMP2
Phenotype: Reduced upper to lower segment ratio (HP:0012773)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Abnormal cheek morphology (HP:0004426)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: EFEMP2
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: EFEMP2
Phenotype: Protrusio acetabuli (HP:0003179)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Thin ribs (HP:0000883)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Hypertension (HP:0000822)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
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: EFEMP2
Phenotype: Hypoplasia of the diaphragm (HP:0040044)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Lateral clavicle hook (HP:0000895)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Abnormal cardiac ventricular function (HP:0030872)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: EFEMP2
Phenotype: Congenital finger flexion contractures (HP:0005879)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Abnormality of the thoracic cavity (HP:0045027)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: EFEMP2
Phenotype: Elbow contracture (HP:0034391)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Hip contracture (HP:0003273)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Molluscoid pseudotumors (HP:0000993)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
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: EFEMP2
Phenotype: Soft skin (HP:0000977)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Soft skin (HP:0000977)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Cutis laxa (HP:0000973)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Cutis laxa (HP:0000973)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Cutis laxa (HP:0000973)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: EFEMP2
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: EFEMP2
Phenotype: Thin skin (HP:0000963)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Osteopenia (HP:0000938)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Osteopenia (HP:0000938)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Supernumerary ribs (HP:0005815)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Inferior oblique muscle overaction (HP:0025599)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Hypertropia (HP:0025586)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Retrognathia (HP:0000278)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Retrognathia (HP:0000278)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
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: EFEMP2
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Narrow face (HP:0000275)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Long face (HP:0000276)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Long face (HP:0000276)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: EFEMP2
Phenotype: Malar flattening (HP:0000272)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Malar flattening (HP:0000272)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Mitral annular calcification (HP:0005136)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Right ventricular dilatation (HP:0005133)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Arterial tortuosity (HP:0005116)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
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: EFEMP2
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: EFEMP2
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Brachyturricephaly (HP:0000244)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Microcephaly (HP:0000252)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Microcephaly (HP:0000252)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Redundant skin (HP:0001582)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: EFEMP2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Overgrowth (HP:0001548)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: High palate (HP:0000218)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: High palate (HP:0000218)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: High palate (HP:0000218)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: High palate (HP:0000218)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: High palate (HP:0000218)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
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: EFEMP2
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Cervical insufficiency (HP:0030009)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Genu valgum (HP:0002857)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Ecchymosis (HP:0031364)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: EFEMP2
Phenotype: Increased axial length of the globe (HP:0007800)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Camptodactyly (HP:0012385)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Camptodactyly (HP:0012385)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Camptodactyly (HP:0012385)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Absent earlobe (HP:0000387)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Flat face (HP:0012368)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Premature delivery because of cervical insufficiency or membrane fragility (HP:0005267)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: EFEMP2
Phenotype: Recurrent intrapulmonary hemorrhage (HP:0006535)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Repeated pneumothoraces (HP:0006522)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
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)