TaoMedAI/RareMedData huggingface dataset:
Gene: TGFB3
Phenotype: Talipes (HP:0001883)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB3
Phenotype: Myopia (HP:0000545)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFB3
Phenotype: Myopia (HP:0000545)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFB3
Phenotype: Myopia (HP:0000545)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFB3
Phenotype: Myopia (HP:0000545)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB3
Phenotype: Myopia (HP:0000545)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LEFTY2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: LEFTY2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: LEFTY2
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: LEFTY2
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: LEFTY2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: LEFTY2
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TGFBI
Phenotype: Lattice corneal dystrophy (HP:0001149)
Associated disease: CORNEAL DYSTROPHY, LATTICE TYPE IIIA (OMIM:608471)
Gene: TGFBI
Phenotype: Lattice corneal dystrophy (HP:0001149)
Associated disease: CORNEAL DYSTROPHY, AVELLINO TYPE (OMIM:607541)
Gene: TGFBI
Phenotype: Lattice corneal dystrophy (HP:0001149)
Associated disease: CORNEAL DYSTROPHY, LATTICE TYPE I (OMIM:122200)
Gene: TGFBI
Phenotype: Lattice corneal dystrophy (HP:0001149)
Associated disease: Lattice corneal dystrophy type 1; LCDI; Biber-Haab-Dimmer dystrophy; LCD1; Classic lattice corneal dystrophy; Lattice corneal dystrophy type I (ORPHA:98964)
Gene: TGFBI
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE (OMIM:608470)
Gene: TGFBI
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE (OMIM:121820)
Gene: TGFBI
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE (OMIM:602082)
Gene: TGFBI
Phenotype: Corneal stromal edema (HP:0012040)
Associated disease: Lattice corneal dystrophy type 1; LCDI; Biber-Haab-Dimmer dystrophy; LCD1; Classic lattice corneal dystrophy; Lattice corneal dystrophy type I (ORPHA:98964)
Gene: TGFBI
Phenotype: Red eye (HP:0025337)
Associated disease: Lattice corneal dystrophy type 1; LCDI; Biber-Haab-Dimmer dystrophy; LCD1; Classic lattice corneal dystrophy; Lattice corneal dystrophy type I (ORPHA:98964)
Gene: TGFBI
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORNEAL DYSTROPHY, AVELLINO TYPE (OMIM:607541)
Gene: TGFBI
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORNEAL DYSTROPHY, LATTICE TYPE I (OMIM:122200)
Gene: TGFBI
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE (OMIM:121820)
Gene: TGFBI
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE (OMIM:608470)
Gene: TGFBI
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORNEAL DYSTROPHY, LATTICE TYPE IIIA (OMIM:608471)
Gene: TGFBI
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORNEAL DYSTROPHY, GROENOUW TYPE I (OMIM:121900)
Gene: TGFBI
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE (OMIM:602082)
Gene: TGFBI
Phenotype: Decreased corneal sensation (HP:0012155)
Associated disease: Lattice corneal dystrophy type 1; LCDI; Biber-Haab-Dimmer dystrophy; LCD1; Classic lattice corneal dystrophy; Lattice corneal dystrophy type I (ORPHA:98964)
Gene: TGFBI
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Corneal dystrophy Groenouw type I; Classic GCD; Classic granular corneal dystrophy; GCD1; GCDI; Granular corneal dystrophy type 1; Granular corneal dystrophy type I (ORPHA:98962)
Gene: TGFBI
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Granular-lattice corneal dystrophy; Granular corneal dystrophy type II; GCD2; Granular corneal dystrophy type 2; Avellino corneal dystrophy; GCDII (ORPHA:98963)
Gene: TGFBI
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE (OMIM:608470)
Gene: TGFBI
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CORNEAL DYSTROPHY, LATTICE TYPE IIIA (OMIM:608471)
Gene: TGFBI
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE (OMIM:121820)
Gene: TGFBI
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CORNEAL DYSTROPHY, AVELLINO TYPE (OMIM:607541)
Gene: TGFBI
Phenotype: Palpebral edema (HP:0100540)
Associated disease: CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE (OMIM:608470)
Gene: TGFBI
Phenotype: Middle age onset (HP:0003596)
Associated disease: CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE (OMIM:121820)
Gene: TGFBI
Phenotype: Infantile onset (HP:0003593)
Associated disease: CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE (OMIM:608470)
Gene: TGFBI
Phenotype: Late onset (HP:0003584)
Associated disease: CORNEAL DYSTROPHY, LATTICE TYPE IIIA (OMIM:608471)
Gene: TGFBI
Phenotype: Ocular pain (HP:0200026)
Associated disease: Corneal dystrophy Groenouw type I; Classic GCD; Classic granular corneal dystrophy; GCD1; GCDI; Granular corneal dystrophy type 1; Granular corneal dystrophy type I (ORPHA:98962)
Gene: TGFBI
Phenotype: Ocular pain (HP:0200026)
Associated disease: Lattice corneal dystrophy type 1; LCDI; Biber-Haab-Dimmer dystrophy; LCD1; Classic lattice corneal dystrophy; Lattice corneal dystrophy type I (ORPHA:98964)
Gene: TGFBI
Phenotype: Ocular pain (HP:0200026)
Associated disease: Corneal dystrophy of Bowman layer type 2; Thiel-Behnke corneal dystrophy; Anterior limiting membrane dystrophy type 2; Curly fiber corneal dystrophy; Honeycomb corneal dystrophy; Corneal dystrophy of Bowman layer type II; Waardenburg-Jonker corneal dystrophy; TBCD; Anterior limiting membrane dystrophy type II (ORPHA:98960)
Gene: TGFBI
Phenotype: Corneal erosion (HP:0200020)
Associated disease: CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE (OMIM:608470)
Gene: TGFBI
Phenotype: Corneal erosion (HP:0200020)
Associated disease: CORNEAL DYSTROPHY, LATTICE TYPE IIIA (OMIM:608471)
Gene: TGFBI
Phenotype: Central posterior corneal opacity (HP:0008511)
Associated disease: Lattice corneal dystrophy type 1; LCDI; Biber-Haab-Dimmer dystrophy; LCD1; Classic lattice corneal dystrophy; Lattice corneal dystrophy type I (ORPHA:98964)
Gene: TGFBI
Phenotype: Episodic pain (HP:0032148)
Associated disease: Corneal dystrophy of Bowman layer type 2; Thiel-Behnke corneal dystrophy; Anterior limiting membrane dystrophy type 2; Curly fiber corneal dystrophy; Honeycomb corneal dystrophy; Corneal dystrophy of Bowman layer type II; Waardenburg-Jonker corneal dystrophy; TBCD; Anterior limiting membrane dystrophy type II (ORPHA:98960)
Gene: TGFBI
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE (OMIM:121820)
Gene: TGFBI
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CORNEAL DYSTROPHY, AVELLINO TYPE (OMIM:607541)
Gene: TGFBI
Phenotype: Photophobia (HP:0000613)
Associated disease: Corneal dystrophy Groenouw type I; Classic GCD; Classic granular corneal dystrophy; GCD1; GCDI; Granular corneal dystrophy type 1; Granular corneal dystrophy type I (ORPHA:98962)
Gene: TGFBI
Phenotype: Photophobia (HP:0000613)
Associated disease: Lattice corneal dystrophy type 1; LCDI; Biber-Haab-Dimmer dystrophy; LCD1; Classic lattice corneal dystrophy; Lattice corneal dystrophy type I (ORPHA:98964)
Gene: TGFBI
Phenotype: Photophobia (HP:0000613)
Associated disease: Corneal dystrophy of Bowman layer type 2; Thiel-Behnke corneal dystrophy; Anterior limiting membrane dystrophy type 2; Curly fiber corneal dystrophy; Honeycomb corneal dystrophy; Corneal dystrophy of Bowman layer type II; Waardenburg-Jonker corneal dystrophy; TBCD; Anterior limiting membrane dystrophy type II (ORPHA:98960)
Gene: TGFBI
Phenotype: Photophobia (HP:0000613)
Associated disease: CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE (OMIM:608470)
Gene: TGFBI
Phenotype: Photophobia (HP:0000613)
Associated disease: CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE (OMIM:602082)
Gene: TGFBI
Phenotype: Blurred vision (HP:0000622)
Associated disease: Granular-lattice corneal dystrophy; Granular corneal dystrophy type II; GCD2; Granular corneal dystrophy type 2; Avellino corneal dystrophy; GCDII (ORPHA:98963)
Gene: TGFBI
Phenotype: Central opacification of the cornea (HP:0011493)
Associated disease: Corneal dystrophy Groenouw type I; Classic GCD; Classic granular corneal dystrophy; GCD1; GCDI; Granular corneal dystrophy type 1; Granular corneal dystrophy type I (ORPHA:98962)
Gene: TGFBI
Phenotype: Central opacification of the cornea (HP:0011493)
Associated disease: Granular-lattice corneal dystrophy; Granular corneal dystrophy type II; GCD2; Granular corneal dystrophy type 2; Avellino corneal dystrophy; GCDII (ORPHA:98963)
Gene: TGFBI
Phenotype: Central opacification of the cornea (HP:0011493)
Associated disease: Lattice corneal dystrophy type 1; LCDI; Biber-Haab-Dimmer dystrophy; LCD1; Classic lattice corneal dystrophy; Lattice corneal dystrophy type I (ORPHA:98964)
Gene: TGFBI
Phenotype: Abnormal corneal epithelium morphology (HP:0011495)
Associated disease: Corneal dystrophy Groenouw type I; Classic GCD; Classic granular corneal dystrophy; GCD1; GCDI; Granular corneal dystrophy type 1; Granular corneal dystrophy type I (ORPHA:98962)
Gene: TGFBI
Phenotype: Childhood onset (HP:0011463)
Associated disease: CORNEAL DYSTROPHY, AVELLINO TYPE (OMIM:607541)
Gene: TGFBI
Phenotype: Young adult onset (HP:0011462)
Associated disease: CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE (OMIM:121820)
Gene: TGFBI
Phenotype: Subepithelial corneal opacities (HP:0008039)
Associated disease: Corneal dystrophy of Bowman layer type 2; Thiel-Behnke corneal dystrophy; Anterior limiting membrane dystrophy type 2; Curly fiber corneal dystrophy; Honeycomb corneal dystrophy; Corneal dystrophy of Bowman layer type II; Waardenburg-Jonker corneal dystrophy; TBCD; Anterior limiting membrane dystrophy type II (ORPHA:98960)
Gene: TGFBI
Phenotype: Subepithelial corneal opacities (HP:0008039)
Associated disease: Corneal dystrophy Groenouw type I; Classic GCD; Classic granular corneal dystrophy; GCD1; GCDI; Granular corneal dystrophy type 1; Granular corneal dystrophy type I (ORPHA:98962)
Gene: TGFBI
Phenotype: Subepithelial corneal opacities (HP:0008039)
Associated disease: Granular-lattice corneal dystrophy; Granular corneal dystrophy type II; GCD2; Granular corneal dystrophy type 2; Avellino corneal dystrophy; GCDII (ORPHA:98963)
Gene: TGFBI
Phenotype: Subepithelial corneal opacities (HP:0008039)
Associated disease: Lattice corneal dystrophy type 1; LCDI; Biber-Haab-Dimmer dystrophy; LCD1; Classic lattice corneal dystrophy; Lattice corneal dystrophy type I (ORPHA:98964)
Gene: TGFBI
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: Granular-lattice corneal dystrophy; Granular corneal dystrophy type II; GCD2; Granular corneal dystrophy type 2; Avellino corneal dystrophy; GCDII (ORPHA:98963)
Gene: TGFBI
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: Corneal dystrophy of Bowman layer type 2; Thiel-Behnke corneal dystrophy; Anterior limiting membrane dystrophy type 2; Curly fiber corneal dystrophy; Honeycomb corneal dystrophy; Corneal dystrophy of Bowman layer type II; Waardenburg-Jonker corneal dystrophy; TBCD; Anterior limiting membrane dystrophy type II (ORPHA:98960)
Gene: TGFBI
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE (OMIM:608470)
Gene: TGFBI
Phenotype: Juvenile epithelial corneal dystrophy (HP:0007755)
Associated disease: CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE (OMIM:602082)
Gene: TGFBI
Phenotype: Map-dot-fingerprint corneal dystrophy (HP:0007690)
Associated disease: CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE (OMIM:121820)
Gene: TGFBI
Phenotype: Nodular corneal dystrophy (HP:0007827)
Associated disease: CORNEAL DYSTROPHY, GROENOUW TYPE I (OMIM:121900)
Gene: TGFBI
Phenotype: Granular corneal dystrophy (HP:0007802)
Associated disease: CORNEAL DYSTROPHY, GROENOUW TYPE I (OMIM:121900)
Gene: TGFBI
Phenotype: Granular corneal dystrophy (HP:0007802)
Associated disease: Granular-lattice corneal dystrophy; Granular corneal dystrophy type II; GCD2; Granular corneal dystrophy type 2; Avellino corneal dystrophy; GCDII (ORPHA:98963)
Gene: TGFBI
Phenotype: Punctate corneal dystrophy (HP:0007809)
Associated disease: CORNEAL DYSTROPHY, GROENOUW TYPE I (OMIM:121900)
Gene: TGFBI
Phenotype: Central corneal dystrophy (HP:0007881)
Associated disease: Corneal dystrophy of Bowman layer type 2; Thiel-Behnke corneal dystrophy; Anterior limiting membrane dystrophy type 2; Curly fiber corneal dystrophy; Honeycomb corneal dystrophy; Corneal dystrophy of Bowman layer type II; Waardenburg-Jonker corneal dystrophy; TBCD; Anterior limiting membrane dystrophy type II (ORPHA:98960)
Gene: TGFBI
Phenotype: Central corneal dystrophy (HP:0007881)
Associated disease: Corneal dystrophy Groenouw type I; Classic GCD; Classic granular corneal dystrophy; GCD1; GCDI; Granular corneal dystrophy type 1; Granular corneal dystrophy type I (ORPHA:98962)
Gene: TGFBI
Phenotype: High myopia (HP:0011003)
Associated disease: Lattice corneal dystrophy type 1; LCDI; Biber-Haab-Dimmer dystrophy; LCD1; Classic lattice corneal dystrophy; Lattice corneal dystrophy type I (ORPHA:98964)
Gene: TGFBI
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Lattice corneal dystrophy type 1; LCDI; Biber-Haab-Dimmer dystrophy; LCD1; Classic lattice corneal dystrophy; Lattice corneal dystrophy type I (ORPHA:98964)
Gene: TGFBI
Phenotype: Corneal opacity (HP:0007957)
Associated disease: CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE (OMIM:608470)
Gene: TGFBI
Phenotype: Slow decrease in visual acuity (HP:0007924)
Associated disease: Corneal dystrophy of Bowman layer type 2; Thiel-Behnke corneal dystrophy; Anterior limiting membrane dystrophy type 2; Curly fiber corneal dystrophy; Honeycomb corneal dystrophy; Corneal dystrophy of Bowman layer type II; Waardenburg-Jonker corneal dystrophy; TBCD; Anterior limiting membrane dystrophy type II (ORPHA:98960)
Gene: TGFBI
Phenotype: Slow decrease in visual acuity (HP:0007924)
Associated disease: Lattice corneal dystrophy type 1; LCDI; Biber-Haab-Dimmer dystrophy; LCD1; Classic lattice corneal dystrophy; Lattice corneal dystrophy type I (ORPHA:98964)
Gene: TGFBI
Phenotype: Astigmatism (HP:0000483)
Associated disease: Lattice corneal dystrophy type 1; LCDI; Biber-Haab-Dimmer dystrophy; LCD1; Classic lattice corneal dystrophy; Lattice corneal dystrophy type I (ORPHA:98964)
Gene: TGFBI
Phenotype: Astigmatism (HP:0000483)
Associated disease: Corneal dystrophy of Bowman layer type 2; Thiel-Behnke corneal dystrophy; Anterior limiting membrane dystrophy type 2; Curly fiber corneal dystrophy; Honeycomb corneal dystrophy; Corneal dystrophy of Bowman layer type II; Waardenburg-Jonker corneal dystrophy; TBCD; Anterior limiting membrane dystrophy type II (ORPHA:98960)
Gene: TGFBI
Phenotype: Strabismus (HP:0000486)
Associated disease: CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE (OMIM:608470)
Gene: TGFBI
Phenotype: Strabismus (HP:0000486)
Associated disease: CORNEAL DYSTROPHY, GROENOUW TYPE I (OMIM:121900)
Gene: TGFBI
Phenotype: Abnormal cornea morphology (HP:0000481)
Associated disease: Lattice corneal dystrophy type 1; LCDI; Biber-Haab-Dimmer dystrophy; LCD1; Classic lattice corneal dystrophy; Lattice corneal dystrophy type I (ORPHA:98964)
Gene: TGFBI
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: Corneal dystrophy of Bowman layer type 2; Thiel-Behnke corneal dystrophy; Anterior limiting membrane dystrophy type 2; Curly fiber corneal dystrophy; Honeycomb corneal dystrophy; Corneal dystrophy of Bowman layer type II; Waardenburg-Jonker corneal dystrophy; TBCD; Anterior limiting membrane dystrophy type II (ORPHA:98960)
Gene: TGFBI
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE (OMIM:121820)
Gene: TGFBI
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: Corneal dystrophy Groenouw type I; Classic GCD; Classic granular corneal dystrophy; GCD1; GCDI; Granular corneal dystrophy type 1; Granular corneal dystrophy type I (ORPHA:98962)
Gene: TGFBI
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: Granular-lattice corneal dystrophy; Granular corneal dystrophy type II; GCD2; Granular corneal dystrophy type 2; Avellino corneal dystrophy; GCDII (ORPHA:98963)
Gene: TGFBI
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: CORNEAL DYSTROPHY, LATTICE TYPE I (OMIM:122200)
Gene: TGFBI
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: Lattice corneal dystrophy type 1; LCDI; Biber-Haab-Dimmer dystrophy; LCD1; Classic lattice corneal dystrophy; Lattice corneal dystrophy type I (ORPHA:98964)
Gene: TGFBI
Phenotype: Cataract (HP:0000518)
Associated disease: CORNEAL DYSTROPHY, GROENOUW TYPE I (OMIM:121900)
Gene: TGFBI
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: CORNEAL DYSTROPHY, LATTICE TYPE I (OMIM:122200)
Gene: TGFBI
Phenotype: Visual impairment (HP:0000505)
Associated disease: Corneal dystrophy Groenouw type I; Classic GCD; Classic granular corneal dystrophy; GCD1; GCDI; Granular corneal dystrophy type 1; Granular corneal dystrophy type I (ORPHA:98962)
Gene: TGFBI
Phenotype: Visual impairment (HP:0000505)
Associated disease: Granular-lattice corneal dystrophy; Granular corneal dystrophy type II; GCD2; Granular corneal dystrophy type 2; Avellino corneal dystrophy; GCDII (ORPHA:98963)
Gene: TGFBI
Phenotype: Visual impairment (HP:0000505)
Associated disease: CORNEAL DYSTROPHY, LATTICE TYPE IIIA (OMIM:608471)
Gene: TGFBI
Phenotype: Visual impairment (HP:0000505)
Associated disease: CORNEAL DYSTROPHY, AVELLINO TYPE (OMIM:607541)
Gene: TGFBI
Phenotype: Corneal scarring (HP:0000559)
Associated disease: Lattice corneal dystrophy type 1; LCDI; Biber-Haab-Dimmer dystrophy; LCD1; Classic lattice corneal dystrophy; Lattice corneal dystrophy type I (ORPHA:98964)
Gene: TGFBI
Phenotype: Corneal scarring (HP:0000559)
Associated disease: CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE (OMIM:602082)
Gene: TGFBI
Phenotype: Visual loss (HP:0000572)
Associated disease: Lattice corneal dystrophy type 1; LCDI; Biber-Haab-Dimmer dystrophy; LCD1; Classic lattice corneal dystrophy; Lattice corneal dystrophy type I (ORPHA:98964)
Gene: TGFBI
Phenotype: Corneal crystals (HP:0000531)
Associated disease: Corneal dystrophy Groenouw type I; Classic GCD; Classic granular corneal dystrophy; GCD1; GCDI; Granular corneal dystrophy type 1; Granular corneal dystrophy type I (ORPHA:98962)
Gene: TGFBI
Phenotype: Corneal crystals (HP:0000531)
Associated disease: Granular-lattice corneal dystrophy; Granular corneal dystrophy type II; GCD2; Granular corneal dystrophy type 2; Avellino corneal dystrophy; GCDII (ORPHA:98963)
Gene: TGFBR1
Phenotype: Crumpled ear (HP:0009901)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: TGFBR1
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Eosinophilic infiltration of the esophagus (HP:0410151)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR1
Phenotype: Eosinophilic infiltration of the esophagus (HP:0410151)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Sporadic (HP:0003745)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR1
Phenotype: Minimal subcutaneous fat (HP:0003717)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Stroke (HP:0001297)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: TGFBR1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Motor delay (HP:0001270)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Hypotonia (HP:0001252)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Hypotonia (HP:0001252)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Telangiectases of the cheeks (HP:0007421)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO (OMIM:132800)