TaoMedAI/RareMedData huggingface dataset:
Gene: ABCB7
Phenotype: Basal ganglia gliosis (HP:0006999)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia with ataxia; X-linked sideroblastic anemia and spinocerebellar ataxia; XLSA-A (ORPHA:2802)
Gene: ABCB7
Phenotype: Abnormal basal ganglia MRI signal intensity (HP:0012751)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia with ataxia; X-linked sideroblastic anemia and spinocerebellar ataxia; XLSA-A (ORPHA:2802)
Gene: ABCB7
Phenotype: Depression (HP:0000716)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Depression (HP:0000716)
Associated disease: Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia with ataxia; X-linked sideroblastic anemia and spinocerebellar ataxia; XLSA-A (ORPHA:2802)
Gene: ABCB7
Phenotype: Autism (HP:0000717)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Autism (HP:0000717)
Associated disease: Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia with ataxia; X-linked sideroblastic anemia and spinocerebellar ataxia; XLSA-A (ORPHA:2802)
Gene: ABCB7
Phenotype: Dementia (HP:0000726)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Childhood onset (HP:0011463)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Poikilocytosis (HP:0004447)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Poikilocytosis (HP:0004447)
Associated disease: Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia with ataxia; X-linked sideroblastic anemia and spinocerebellar ataxia; XLSA-A (ORPHA:2802)
Gene: ABCB7
Phenotype: Target cells (HP:0034280)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Pallor (HP:0000980)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Growth delay (HP:0001510)
Associated disease: Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia with ataxia; X-linked sideroblastic anemia and spinocerebellar ataxia; XLSA-A (ORPHA:2802)
Gene: ABCB7
Phenotype: Dysphonia (HP:0001618)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Strabismus (HP:0000486)
Associated disease: Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia with ataxia; X-linked sideroblastic anemia and spinocerebellar ataxia; XLSA-A (ORPHA:2802)
Gene: ABCB7
Phenotype: Strabismus (HP:0000486)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Anisocytosis (HP:0011273)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Anisocytosis (HP:0011273)
Associated disease: Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia with ataxia; X-linked sideroblastic anemia and spinocerebellar ataxia; XLSA-A (ORPHA:2802)
Gene: ABCB7
Phenotype: Weight loss (HP:0001824)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCA4
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCA4
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 19 (OMIM:601718)
Gene: ABCA4
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ABCA4
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ABCA4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCA4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: STARGARDT DISEASE 1 (OMIM:248200)
Gene: ABCA4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONE-ROD DYSTROPHY 3 (OMIM:604116)
Gene: ABCA4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 19 (OMIM:601718)
Gene: ABCA4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCA4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 2 (OMIM:153800)
Gene: ABCA4
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCA4
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ABCA4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: ABCA4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 19 (OMIM:601718)
Gene: ABCA4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCA4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ABCA4
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ABCA4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCA4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CONE-ROD DYSTROPHY 3 (OMIM:604116)
Gene: ABCA4
Phenotype: Yellow/white lesions of the macula (HP:0030500)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: ABCA4
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ABCA4
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ABCA4
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: ABCA4
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ABCA4
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ABCA4
Phenotype: Photophobia (HP:0000613)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ABCA4
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ABCA4
Phenotype: Abnormal choroid morphology (HP:0000610)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: ABCA4
Phenotype: Macular degeneration (HP:0000608)
Associated disease: STARGARDT DISEASE 1 (OMIM:248200)
Gene: ABCA4
Phenotype: Macular degeneration (HP:0000608)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: ABCA4
Phenotype: Macular degeneration (HP:0000608)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 2 (OMIM:153800)
Gene: ABCA4
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ABCA4
Phenotype: Central scotoma (HP:0000603)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: ABCA4
Phenotype: Central scotoma (HP:0000603)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ABCA4
Phenotype: Central scotoma (HP:0000603)
Associated disease: CONE-ROD DYSTROPHY 3 (OMIM:604116)
Gene: ABCA4
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ABCA4
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ABCA4
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ABCA4
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ABCA4
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: ABCA4
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ABCA4
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 19 (OMIM:601718)
Gene: ABCA4
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCA4
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ABCA4
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCA4
Phenotype: Childhood onset (HP:0011463)
Associated disease: CONE-ROD DYSTROPHY 3 (OMIM:604116)
Gene: ABCA4
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCA4
Phenotype: Young adult onset (HP:0011462)
Associated disease: CONE-ROD DYSTROPHY 3 (OMIM:604116)
Gene: ABCA4
Phenotype: Photopsia (HP:0030786)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: ABCA4
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ABCA4
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ABCA4
Phenotype: Bull's eye maculopathy (HP:0011504)
Associated disease: CONE-ROD DYSTROPHY 3 (OMIM:604116)
Gene: ABCA4
Phenotype: Bull's eye maculopathy (HP:0011504)
Associated disease: STARGARDT DISEASE 1 (OMIM:248200)
Gene: ABCA4
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ABCA4
Phenotype: Abnormality of macular pigmentation (HP:0008002)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: ABCA4
Phenotype: Aplasia/Hypoplasia of the macula (HP:0008059)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: ABCA4
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ABCA4
Phenotype: Retinitis pigmentosa inversa (HP:0008035)
Associated disease: STARGARDT DISEASE 1 (OMIM:248200)
Gene: ABCA4
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: ABCA4
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: RETINITIS PIGMENTOSA 19 (OMIM:601718)
Gene: ABCA4
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ABCA4
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ABCA4
Phenotype: Paroxysmal involuntary eye movements (HP:0007704)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: ABCA4
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ABCA4
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ABCA4
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCA4
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ABCA4
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 19 (OMIM:601718)
Gene: ABCA4
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ABCA4
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ABCA4
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 19 (OMIM:601718)
Gene: ABCA4
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCA4
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: CONE-ROD DYSTROPHY 3 (OMIM:604116)
Gene: ABCA4
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: ABCA4
Phenotype: Retinal thinning (HP:0030329)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: ABCA4
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ABCA4
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: CONE-ROD DYSTROPHY 3 (OMIM:604116)
Gene: ABCA4
Phenotype: Electronegative electroretinogram (HP:0007984)
Associated disease: CONE-ROD DYSTROPHY 3 (OMIM:604116)
Gene: ABCA4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ABCA4
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ABCA4
Phenotype: Abnormal foveal morphology (HP:0000493)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: ABCA4
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ABCA4
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ABCA4
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 19 (OMIM:601718)
Gene: ABCA4
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCA4
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ABCA4
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: RETINITIS PIGMENTOSA 19 (OMIM:601718)
Gene: ABCA4
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ABCA4
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ABCA4
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ABCA4
Phenotype: Visual impairment (HP:0000505)
Associated disease: RETINITIS PIGMENTOSA 19 (OMIM:601718)
Gene: ABCA4
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ABCA4
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: CONE-ROD DYSTROPHY 3 (OMIM:604116)
Gene: ABCA4
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCA4
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ABCA4
Phenotype: Visual loss (HP:0000572)
Associated disease: CONE-ROD DYSTROPHY 3 (OMIM:604116)
Gene: ABCA4
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ABCA4
Phenotype: Color vision defect (HP:0000551)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: ABCA4
Phenotype: Color vision defect (HP:0000551)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ABCA4
Phenotype: Color vision defect (HP:0000551)
Associated disease: CONE-ROD DYSTROPHY 3 (OMIM:604116)
Gene: ABCA4
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ABCA4
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: CONE-ROD DYSTROPHY 3 (OMIM:604116)
Gene: ABCA4
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ABCA4
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ABCA4
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 19 (OMIM:601718)
Gene: ABCA4
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCA4
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: CONE-ROD DYSTROPHY 3 (OMIM:604116)
Gene: ABCA4
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABL1
Phenotype: Crumpled ear (HP:0009901)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ABL1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ABL1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ABL1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ABL1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME (OMIM:617602)
Gene: ABL1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ABL1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ABL1
Phenotype: Sporadic (HP:0003745)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ABL1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ABL1
Phenotype: Minimal subcutaneous fat (HP:0003717)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ABL1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ABL1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ABL1
Phenotype: Motor delay (HP:0001270)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ABL1
Phenotype: Hypotonia (HP:0001252)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ABL1
Phenotype: Hypotonia (HP:0001252)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ABL1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ABL1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ABL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME (OMIM:617602)
Gene: ABL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ABL1
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ABL1
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME (OMIM:617602)
Gene: ABL1
Phenotype: Telangiectases of the cheeks (HP:0007421)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ABL1
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ABL1
Phenotype: Metacarpophalangeal joint hyperextensibility (HP:0006099)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ABL1
Phenotype: Tall stature (HP:0000098)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ABL1
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ABL1
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ABL1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ABL1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ABL1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ABL1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ABL1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ABL1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME (OMIM:617602)
Gene: ABL1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ABL1
Phenotype: Hypospadias (HP:0000047)
Associated disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME (OMIM:617602)
Gene: ABL1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ABL1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ABL1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ABL1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ABL1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ABL1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME (OMIM:617602)
Gene: ABL1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ABL1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ABL1
Phenotype: Hypermobility of distal interphalangeal joints (HP:0006201)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ABL1
Phenotype: Combined cystic and ground-glass pattern on pulmonary HRCT (HP:0025395)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ABL1
Phenotype: Nodular pattern on pulmonary HRCT (HP:0025392)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ABL1
Phenotype: Carotid cavernous fistula (HP:0031157)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ABL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ABL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ABL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME (OMIM:617602)
Gene: ABL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ABL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ABL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ABL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ABL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ABL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME (OMIM:617602)
Gene: ABL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ABL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ABL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)