TaoMedAI/RareMedData huggingface dataset:
Gene: COL3A1
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Protrusio acetabuli (HP:0003179)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: COL3A1
Phenotype: Thin ribs (HP:0000883)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Hypertension (HP:0000822)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Hypertension (HP:0000822)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Hypertension (HP:0000822)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: COL3A1
Phenotype: Lateral clavicle hook (HP:0000895)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Congenital finger flexion contractures (HP:0005879)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Elbow contracture (HP:0034391)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Hip contracture (HP:0003273)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Gingival recession (HP:0030816)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Molluscoid pseudotumors (HP:0000993)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Soft skin (HP:0000977)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Cutis laxa (HP:0000973)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Atypical scarring of skin (HP:0000987)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: Acrogeria, Gottron type; Acrogeria; Gottron syndrome; Acrometageria (ORPHA:2500)
Gene: COL3A1
Phenotype: Thin skin (HP:0000963)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Thin skin (HP:0000963)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Thin skin (HP:0000963)
Associated disease: Acrogeria, Gottron type; Acrogeria; Gottron syndrome; Acrometageria (ORPHA:2500)
Gene: COL3A1
Phenotype: Osteopenia (HP:0000938)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Osteopenia (HP:0000938)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Supernumerary ribs (HP:0005815)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: Acrogeria, Gottron type; Acrogeria; Gottron syndrome; Acrometageria (ORPHA:2500)
Gene: COL3A1
Phenotype: Encephalomalacia (HP:0040197)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: COL3A1
Phenotype: Inferior oblique muscle overaction (HP:0025599)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Hypertropia (HP:0025586)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Retrognathia (HP:0000278)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Retrognathia (HP:0000278)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Alopecia (HP:0001596)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Oculomotor nerve palsy (HP:0012246)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: COL3A1
Phenotype: Narrow face (HP:0000275)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Long face (HP:0000276)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Long face (HP:0000276)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Long face (HP:0000276)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Malar flattening (HP:0000272)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Malar flattening (HP:0000272)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Mitral annular calcification (HP:0005136)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Brachyturricephaly (HP:0000244)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Microcephaly (HP:0000252)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Redundant skin (HP:0001582)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: High palate (HP:0000218)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: High palate (HP:0000218)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: High palate (HP:0000218)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: High palate (HP:0000218)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Gingivitis (HP:0000230)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Cervical insufficiency (HP:0030009)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Genu valgum (HP:0002857)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Ecchymosis (HP:0031364)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Increased axial length of the globe (HP:0007800)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Absent earlobe (HP:0000387)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Flat face (HP:0012368)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Internal hemorrhage (HP:0011029)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Premature delivery because of cervical insufficiency or membrane fragility (HP:0005267)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Gastrointestinal infarctions (HP:0005244)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Recurrent intrapulmonary hemorrhage (HP:0006535)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Repeated pneumothoraces (HP:0006522)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Low-set ears (HP:0000369)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Long philtrum (HP:0000343)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: COL3A1
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Micrognathia (HP:0000347)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Micrognathia (HP:0000347)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Acrogeria, Gottron type; Acrogeria; Gottron syndrome; Acrometageria (ORPHA:2500)
Gene: COL3A1
Phenotype: Micrognathia (HP:0000347)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Micrognathia (HP:0000347)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Micrognathia (HP:0000347)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Short philtrum (HP:0000322)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Premature birth (HP:0001622)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: COL3A1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Spontaneous cerebrospinal fluid leak (HP:0032934)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Descending aortic dissection (HP:0012499)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Hypoplastic lacrimal duct (HP:0007900)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Typical absence seizure (HP:0011147)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Aortic tortuosity (HP:0006687)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Macrotia (HP:0000400)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Tricuspid valve prolapse (HP:0001704)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Arterial dissection (HP:0005294)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Astigmatism (HP:0000483)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Astigmatism (HP:0000483)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Strabismus (HP:0000486)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Strabismus (HP:0000486)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Narrow foot (HP:0001786)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Premature rupture of membranes (HP:0001788)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Short neck (HP:0000470)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Short foot (HP:0001773)
Associated disease: Acrogeria, Gottron type; Acrogeria; Gottron syndrome; Acrometageria (ORPHA:2500)
Gene: COL3A1
Phenotype: Pes planus (HP:0001763)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Pes planus (HP:0001763)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Hammertoe (HP:0001765)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)