TaoMedAI/RareMedData huggingface dataset:
Gene: EFEMP2
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Abnormal systemic arterial morphology (HP:0011004)
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: Low-set ears (HP:0000369)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Low-set ears (HP:0000369)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Long philtrum (HP:0000343)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Pyelonephritis (HP:0012330)
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: Patellar dislocation (HP:0002999)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Micrognathia (HP:0000347)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Micrognathia (HP:0000347)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Micrognathia (HP:0000347)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Micrognathia (HP:0000347)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Micrognathia (HP:0000347)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
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: EFEMP2
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
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: EFEMP2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
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: EFEMP2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
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: EFEMP2
Phenotype: Bradycardia (HP:0001662)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
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: EFEMP2
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
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: EFEMP2
Phenotype: Congestive heart failure (HP:0001635)
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: Congestive heart failure (HP:0001635)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Spontaneous cerebrospinal fluid leak (HP:0032934)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Descending aortic dissection (HP:0012499)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
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: EFEMP2
Phenotype: Dilatation of the ventricular cavity (HP:0006698)
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: Aortic tortuosity (HP:0006687)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Macrotia (HP:0000400)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Tricuspid valve prolapse (HP:0001704)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Astigmatism (HP:0000483)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Astigmatism (HP:0000483)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Strabismus (HP:0000486)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Strabismus (HP:0000486)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Narrow foot (HP:0001786)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Short neck (HP:0000470)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
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: EFEMP2
Phenotype: Pes planus (HP:0001763)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Pes planus (HP:0001763)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
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: EFEMP2
Phenotype: Hammertoe (HP:0001765)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Pes cavus (HP:0001761)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Cataract (HP:0000518)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Foot acroosteolysis (HP:0001842)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
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: EFEMP2
Phenotype: Proptosis (HP:0000520)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Proptosis (HP:0000520)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Telecanthus (HP:0000506)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Ptosis (HP:0000508)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Exotropia (HP:0000577)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Shallow orbits (HP:0000586)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Keratoconus (HP:0000563)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Keratoconus (HP:0000563)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Esotropia (HP:0000565)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Talipes (HP:0001883)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Myopia (HP:0000545)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Myopia (HP:0000545)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Myopia (HP:0000545)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Myopia (HP:0000545)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TBX21
Phenotype: Aspirin-induced asthma (HP:0012042)
Associated disease: ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE (OMIM:208550)
Gene: TBX21
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 88 (OMIM:619630)
Gene: TBX21
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE (OMIM:208550)
Gene: TBX21
Phenotype: Asthma (HP:0002099)
Associated disease: IMMUNODEFICIENCY 88 (OMIM:619630)
Gene: TBX21
Phenotype: Asthma (HP:0002099)
Associated disease: ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE (OMIM:208550)
Gene: TBX21
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE (OMIM:208550)
Gene: TBX21
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 88 (OMIM:619630)
Gene: TBX21
Phenotype: BCGosis (HP:0020087)
Associated disease: IMMUNODEFICIENCY 88 (OMIM:619630)
Gene: TBX21
Phenotype: Bronchoconstriction (HP:4000007)
Associated disease: ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE (OMIM:208550)
Gene: TBX21
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: IMMUNODEFICIENCY 88 (OMIM:619630)
Gene: SH3KBP1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: IMMUNODEFICIENCY 61 (OMIM:300310)
Gene: SH3KBP1
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: IMMUNODEFICIENCY 61 (OMIM:300310)
Gene: SH3KBP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 61 (OMIM:300310)
Gene: SH3KBP1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: IMMUNODEFICIENCY 61 (OMIM:300310)
Gene: SH3KBP1
Phenotype: Decreased circulating IgG2 concentration (HP:0008348)
Associated disease: IMMUNODEFICIENCY 61 (OMIM:300310)
Gene: SH3KBP1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: IMMUNODEFICIENCY 61 (OMIM:300310)
Gene: SH3KBP1
Phenotype: Decreased circulating IgG4 concentration (HP:0032138)
Associated disease: IMMUNODEFICIENCY 61 (OMIM:300310)
Gene: SH3KBP1
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: IMMUNODEFICIENCY 61 (OMIM:300310)
Gene: SH3KBP1
Phenotype: Obesity (HP:0001513)
Associated disease: IMMUNODEFICIENCY 61 (OMIM:300310)
Gene: SH3KBP1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: IMMUNODEFICIENCY 61 (OMIM:300310)
Gene: SH3KBP1
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: IMMUNODEFICIENCY 61 (OMIM:300310)
Gene: SLC40A1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: HEMOCHROMATOSIS, TYPE 4 (OMIM:606069)
Gene: SLC40A1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: HEMOCHROMATOSIS, TYPE 4 (OMIM:606069)
Gene: SLC40A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HEMOCHROMATOSIS, TYPE 4 (OMIM:606069)
Gene: SLC40A1
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: HEMOCHROMATOSIS, TYPE 4 (OMIM:606069)
Gene: SLC40A1
Phenotype: Impaired glucose tolerance (HP:0040270)
Associated disease: HEMOCHROMATOSIS, TYPE 4 (OMIM:606069)
Gene: SLC40A1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: HEMOCHROMATOSIS, TYPE 4 (OMIM:606069)
Gene: SLC40A1
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: HEMOCHROMATOSIS, TYPE 4 (OMIM:606069)
Gene: SLC40A1
Phenotype: Anemia (HP:0001903)
Associated disease: HEMOCHROMATOSIS, TYPE 4 (OMIM:606069)
Gene: SLC40A1
Phenotype: Impotence (HP:0000802)
Associated disease: HEMOCHROMATOSIS, TYPE 4 (OMIM:606069)
Gene: SLC40A1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: HEMOCHROMATOSIS, TYPE 4 (OMIM:606069)
Gene: SLC40A1
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: HEMOCHROMATOSIS, TYPE 4 (OMIM:606069)
Gene: SLC40A1
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: HEMOCHROMATOSIS, TYPE 4 (OMIM:606069)
Gene: SLC40A1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: HEMOCHROMATOSIS, TYPE 4 (OMIM:606069)
Gene: SLC40A1
Phenotype: Arthralgia (HP:0002829)
Associated disease: HEMOCHROMATOSIS, TYPE 4 (OMIM:606069)
Gene: SLC40A1
Phenotype: Fatigue (HP:0012378)
Associated disease: HEMOCHROMATOSIS, TYPE 4 (OMIM:606069)
Gene: SLC40A1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: HEMOCHROMATOSIS, TYPE 4 (OMIM:606069)
Gene: SLC40A1
Phenotype: Elevated transferrin saturation (HP:0012463)
Associated disease: HEMOCHROMATOSIS, TYPE 4 (OMIM:606069)
Gene: SLC40A1
Phenotype: Cataract (HP:0000518)
Associated disease: HEMOCHROMATOSIS, TYPE 4 (OMIM:606069)
Gene: RAX
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROPHTHALMIA, ISOLATED 3 (OMIM:611038)
Gene: RAX
Phenotype: High hypermetropia (HP:0008499)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: RAX
Phenotype: Ankyloblepharon (HP:0009755)
Associated disease: MICROPHTHALMIA, ISOLATED 3 (OMIM:611038)
Gene: RAX
Phenotype: Sclerocornea (HP:0000647)
Associated disease: MICROPHTHALMIA, ISOLATED 3 (OMIM:611038)
Gene: RAX
Phenotype: Abnormal choroid morphology (HP:0000610)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: RAX
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: RAX
Phenotype: Strabismus (HP:0000486)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: RAX
Phenotype: Anophthalmia (HP:0000528)
Associated disease: MICROPHTHALMIA, ISOLATED 3 (OMIM:611038)
Gene: RAX
Phenotype: Glaucoma (HP:0000501)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: RAX
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: RAX
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MICROPHTHALMIA, ISOLATED 3 (OMIM:611038)
Gene: VSX1
Phenotype: Severe sensorineural hearing impairment (HP:0008625)
Associated disease: CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME (OMIM:614195)
Gene: VSX1
Phenotype: Ectopia pupillae (HP:0009918)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: VSX1
Phenotype: Posterior fossa cyst (HP:0007291)
Associated disease: CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME (OMIM:614195)
Gene: VSX1
Phenotype: Uveal ectropion (HP:0025358)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: VSX1
Phenotype: Corneal stromal edema (HP:0012040)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: VSX1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME (OMIM:614195)
Gene: VSX1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KERATOCONUS 1 (OMIM:148300)
Gene: VSX1
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME (OMIM:614195)
Gene: VSX1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME (OMIM:614195)
Gene: VSX1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: VSX1
Phenotype: Nasofrontal encephalocele (HP:0011818)
Associated disease: CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME (OMIM:614195)
Gene: VSX1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME (OMIM:614195)
Gene: VSX1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME (OMIM:614195)
Gene: VSX1
Phenotype: Vertigo (HP:0002321)
Associated disease: CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME (OMIM:614195)
Gene: VSX1
Phenotype: Headache (HP:0002315)
Associated disease: CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME (OMIM:614195)
Gene: VSX1
Phenotype: Ocular pain (HP:0200026)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: VSX1
Phenotype: Chorioretinal degeneration (HP:0200065)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: VSX1
Phenotype: Very low visual acuity (HP:0032122)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: VSX1
Phenotype: Increased corneal curvature (HP:0100692)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: VSX1
Phenotype: Lacrimation abnormality (HP:0000632)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: VSX1
Phenotype: Amblyopia (HP:0000646)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: VSX1
Phenotype: Photophobia (HP:0000613)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: VSX1
Phenotype: Blurred vision (HP:0000622)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)