TaoMedAI/RareMedData huggingface dataset:
Gene: COL2A1
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: ACHONDROGENESIS, TYPE II (OMIM:200610)
Gene: COL2A1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Early young adult onset (HP:0025708)
Associated disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 (OMIM:608805)
Gene: COL2A1
Phenotype: Hypoplastic fetal nasal bone (HP:0025707)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Tibial metaphyseal irregularity (HP:0030292)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE (OMIM:184253)
Gene: COL2A1
Phenotype: Unossified sacrum (HP:0030290)
Associated disease: Achondrogenesis type 2; Achondrogenesis, Langer-Saldino type (ORPHA:93296)
Gene: COL2A1
Phenotype: Osteochondroma (HP:0030431)
Associated disease: CZECH DYSPLASIA (OMIM:609162)
Gene: COL2A1
Phenotype: Decreased cranial base ossification (HP:0005451)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Calcification of falx cerebri (HP:0005462)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Cataract (HP:0000518)
Associated disease: Stickler syndrome type 1 (ORPHA:90653)
Gene: COL2A1
Phenotype: Cataract (HP:0000518)
Associated disease: Spondyloperipheral dysplasia-short ulna syndrome (ORPHA:1856)
Gene: COL2A1
Phenotype: Cataract (HP:0000518)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Cataract (HP:0000518)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS (OMIM:132450)
Gene: COL2A1
Phenotype: Cataract (HP:0000518)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Cataract (HP:0000518)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL2A1
Phenotype: Cataract (HP:0000518)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Cataract (HP:0000518)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Cataract (HP:0000518)
Associated disease: Achondrogenesis type 2; Achondrogenesis, Langer-Saldino type (ORPHA:93296)
Gene: COL2A1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL2A1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL2A1
Phenotype: Proptosis (HP:0000520)
Associated disease: Stickler syndrome type 1 (ORPHA:90653)
Gene: COL2A1
Phenotype: Proptosis (HP:0000520)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Proptosis (HP:0000520)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Proptosis (HP:0000520)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Glaucoma (HP:0000501)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Glaucoma (HP:0000501)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL2A1
Phenotype: Short toe (HP:0001831)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Short toe (HP:0001831)
Associated disease: CZECH DYSPLASIA (OMIM:609162)
Gene: COL2A1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL2A1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Iron deficiency anemia (HP:0001891)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Platyspondylic lethal skeletal dysplasia, Torrance type; Platyspondylic dysplasia, Torrance-Luton type; Platyspondylic dysplasia, Torrance type; PLSD-T (ORPHA:85166)
Gene: COL2A1
Phenotype: Visual loss (HP:0000572)
Associated disease: Stickler syndrome type 1 (ORPHA:90653)
Gene: COL2A1
Phenotype: Visual loss (HP:0000572)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL2A1
Phenotype: Esotropia (HP:0000565)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Stickler syndrome type 1 (ORPHA:90653)
Gene: COL2A1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Spondyloperipheral dysplasia-short ulna syndrome (ORPHA:1856)
Gene: COL2A1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Achondrogenesis type 2; Achondrogenesis, Langer-Saldino type (ORPHA:93296)
Gene: COL2A1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL2A1
Phenotype: Talipes (HP:0001883)
Associated disease: Spondyloperipheral dysplasia-short ulna syndrome (ORPHA:1856)
Gene: COL2A1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL2A1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL2A1
Phenotype: Myopia (HP:0000545)
Associated disease: Stickler syndrome type 1 (ORPHA:90653)
Gene: COL2A1
Phenotype: Myopia (HP:0000545)
Associated disease: Spondyloperipheral dysplasia-short ulna syndrome (ORPHA:1856)
Gene: COL2A1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL2A1
Phenotype: Myopia (HP:0000545)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS (OMIM:132450)
Gene: COL2A1
Phenotype: Myopia (HP:0000545)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Myopia (HP:0000545)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Myopia (HP:0000545)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Myopia (HP:0000545)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL2A1
Phenotype: Myopia (HP:0000545)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Myopia (HP:0000545)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE (OMIM:184253)
Gene: COL2A1
Phenotype: Myopia (HP:0000545)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE (OMIM:184250)
Gene: COL2A1
Phenotype: Myopia (HP:0000545)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Myopia (HP:0000545)
Associated disease: Achondrogenesis type 2; Achondrogenesis, Langer-Saldino type (ORPHA:93296)
Gene: COL2A1
Phenotype: Myopia (HP:0000545)
Associated disease: STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR (OMIM:609508)
Gene: COL2A1
Phenotype: Myopia (HP:0000545)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Myopia (HP:0000545)
Associated disease: Spondylometaphyseal dysplasia, Algerian type; Spondylometaphyseal dysplasia with severe genu valgum; Spondylometaphyseal dysplasia, Schmidt type (ORPHA:93316)
Gene: COL2A1
Phenotype: Myopia (HP:0000545)
Associated disease: Spondyloepimetaphyseal dysplasia congenita, Strudwick type (ORPHA:93346)
Gene: COL3A1
Phenotype: Crumpled ear (HP:0009901)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Visual field defect (HP:0001123)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: COL3A1
Phenotype: Aplasia/Hypoplasia of the earlobes (HP:0009906)
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: Sporadic (HP:0003745)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Minimal subcutaneous fat (HP:0003717)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Long fingers (HP:0100807)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Renovascular hypertension (HP:0100817)
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: Motor delay (HP:0001270)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Motor delay (HP:0001270)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: COL3A1
Phenotype: Seizure (HP:0001250)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Seizure (HP:0001250)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: COL3A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Acrogeria, Gottron type; Acrogeria; Gottron syndrome; Acrometageria (ORPHA:2500)
Gene: COL3A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Global developmental delay (HP:0001263)
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: Global developmental delay (HP:0001263)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Slender finger (HP:0001238)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Telangiectases of the cheeks (HP:0007421)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
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: Irregular hyperpigmentation (HP:0007400)
Associated disease: Acrogeria, Gottron type; Acrogeria; Gottron syndrome; Acrometageria (ORPHA:2500)
Gene: COL3A1
Phenotype: Excessive wrinkled skin (HP:0007392)
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: Excessive wrinkled skin (HP:0007392)
Associated disease: Acrogeria, Gottron type; Acrogeria; Gottron syndrome; Acrometageria (ORPHA:2500)
Gene: COL3A1
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Metacarpophalangeal joint hyperextensibility (HP:0006099)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Tall stature (HP:0000098)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Congenital hip dislocation (HP:0001374)
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: Limited elbow extension (HP:0001377)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Joint dislocation (HP:0001373)
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: Delayed ability to sit (HP:0025336)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Joint hypermobility (HP:0001382)
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: Joint hypermobility (HP:0001382)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Acrogeria, Gottron type; Acrogeria; Gottron syndrome; Acrometageria (ORPHA:2500)
Gene: COL3A1
Phenotype: Hypospadias (HP:0000047)
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: Inguinal hernia (HP:0000023)
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: Inguinal hernia (HP:0000023)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Bladder diverticulum (HP:0000015)
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: Craniosynostosis (HP:0001363)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Cryptorchidism (HP:0000028)
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: Cryptorchidism (HP:0000028)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Hypermobility of distal interphalangeal joints (HP:0006201)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Combined cystic and ground-glass pattern on pulmonary HRCT (HP:0025395)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Nodular pattern on pulmonary HRCT (HP:0025392)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Carotid cavernous fistula (HP:0031157)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Prematurely aged appearance (HP:0007495)
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: Prematurely aged appearance (HP:0007495)
Associated disease: Acrogeria, Gottron type; Acrogeria; Gottron syndrome; Acrometageria (ORPHA:2500)
Gene: COL3A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: COL3A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Arteriovenous fistulas of celiac and mesenteric vessels (HP:0002642)
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: Skeletal dysplasia (HP:0002652)
Associated disease: Acrogeria, Gottron type; Acrogeria; Gottron syndrome; Acrometageria (ORPHA:2500)
Gene: COL3A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Acrogeria, Gottron type; Acrogeria; Gottron syndrome; Acrometageria (ORPHA:2500)
Gene: COL3A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Aortic dissection (HP:0002647)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Aortic dissection (HP:0002647)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Aortic dissection (HP:0002647)
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: Aortic dissection (HP:0002647)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: COL3A1
Phenotype: Varicose veins (HP:0002619)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Varicose veins (HP:0002619)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Varicose veins (HP:0002619)
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: Aortic root aneurysm (HP:0002616)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: COL3A1
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Vascular dilatation (HP:0002617)
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: Pulmonary bulla (HP:0032446)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Pulmonary bleb (HP:0032447)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Atherosclerosis (HP:0002621)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)