TaoMedAI/RareMedData huggingface dataset:
Gene: GUCA1A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCA1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCA1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONE DYSTROPHY 3 (OMIM:602093)
Gene: GUCA1A
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCA1A
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCA1A
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CONE DYSTROPHY 3 (OMIM:602093)
Gene: GUCA1A
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: GUCA1A
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: GUCA1A
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: GUCA1A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCA1A
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: GUCA1A
Phenotype: Photophobia (HP:0000613)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: GUCA1A
Phenotype: Photophobia (HP:0000613)
Associated disease: Cone dystrophy; Progressive cone dystrophy (ORPHA:1871)
Gene: GUCA1A
Phenotype: Photophobia (HP:0000613)
Associated disease: CONE DYSTROPHY 3 (OMIM:602093)
Gene: GUCA1A
Phenotype: Central scotoma (HP:0000603)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: GUCA1A
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: GUCA1A
Phenotype: Choriocapillaris atrophy (HP:0030491)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: GUCA1A
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: GUCA1A
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCA1A
Phenotype: Nyctalopia (HP:0000662)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: GUCA1A
Phenotype: Foveal photoreceptor outer segment loss on macular OCT (HP:0030615)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: GUCA1A
Phenotype: Perifoveal ring of hyperautofluorescence (HP:0030629)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: GUCA1A
Phenotype: Hyperautofluorescent macular lesion (HP:0030631)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: GUCA1A
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCA1A
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCA1A
Phenotype: Drusen (HP:0011510)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: GUCA1A
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: GUCA1A
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cone dystrophy; Progressive cone dystrophy (ORPHA:1871)
Gene: GUCA1A
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCA1A
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: GUCA1A
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: GUCA1A
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCA1A
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: GUCA1A
Phenotype: Hypopigmentation of the fundus (HP:0007894)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: GUCA1A
Phenotype: Slow decrease in visual acuity (HP:0007924)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: GUCA1A
Phenotype: Absent retinal pigment epithelium (HP:0007980)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: GUCA1A
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: GUCA1A
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCA1A
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Cone dystrophy; Progressive cone dystrophy (ORPHA:1871)
Gene: GUCA1A
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: GUCA1A
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: CONE DYSTROPHY 3 (OMIM:602093)
Gene: GUCA1A
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: GUCA1A
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cone dystrophy; Progressive cone dystrophy (ORPHA:1871)
Gene: GUCA1A
Phenotype: Visual impairment (HP:0000505)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: GUCA1A
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCA1A
Phenotype: Visual loss (HP:0000572)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: GUCA1A
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: GUCA1A
Phenotype: Color vision defect (HP:0000551)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: GUCA1A
Phenotype: Color vision defect (HP:0000551)
Associated disease: Cone dystrophy; Progressive cone dystrophy (ORPHA:1871)
Gene: GUCA1A
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: CONE DYSTROPHY 3 (OMIM:602093)
Gene: GUCA1A
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: GUCA1A
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCA1A
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCA1B
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCA1B
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: GUCA1B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCA1B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCA1B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 48 (OMIM:613827)
Gene: GUCA1B
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCA1B
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: GUCA1B
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCA1B
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: GUCA1B
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCA1B
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: GUCA1B
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: GUCA1B
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: GUCA1B
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: GUCA1B
Phenotype: Macular degeneration (HP:0000608)
Associated disease: RETINITIS PIGMENTOSA 48 (OMIM:613827)
Gene: GUCA1B
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: GUCA1B
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: GUCA1B
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: GUCA1B
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: GUCA1B
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCA1B
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: GUCA1B
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCA1B
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCA1B
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: GUCA1B
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: GUCA1B
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: GUCA1B
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: GUCA1B
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: GUCA1B
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: GUCA1B
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: GUCA1B
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCA1B
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: GUCA1B
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCA1B
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: GUCA1B
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: GUCA1B
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: GUCA1B
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: GUCA1B
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCA1B
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 48 (OMIM:613827)
Gene: GUCA1B
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: GUCA1B
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: GUCA1B
Phenotype: Visual impairment (HP:0000505)
Associated disease: RETINITIS PIGMENTOSA 48 (OMIM:613827)
Gene: GUCA1B
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: GUCA1B
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCA1B
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: GUCA1B
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: GUCA1B
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: GUCA1B
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: GUCA1B
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCA1B
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCY1A1
Phenotype: Livedo reticularis (HP:0033505)
Associated disease: MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA (OMIM:615750)
Gene: GUCY1A1
Phenotype: Stroke (HP:0001297)
Associated disease: Moyamoya disease with early-onset achalasia (ORPHA:401945)
Gene: GUCY1A1
Phenotype: Hemiparesis (HP:0001269)
Associated disease: MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA (OMIM:615750)
Gene: GUCY1A1
Phenotype: Achalasia (HP:0002571)
Associated disease: MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA (OMIM:615750)
Gene: GUCY1A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA (OMIM:615750)
Gene: GUCY1A1
Phenotype: Dysphagia (HP:0002015)
Associated disease: MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA (OMIM:615750)
Gene: GUCY1A1
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA (OMIM:615750)
Gene: GUCY1A1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA (OMIM:615750)
Gene: GUCY1A1
Phenotype: Moyamoya phenomenon (HP:0011834)
Associated disease: Moyamoya disease with early-onset achalasia (ORPHA:401945)
Gene: GUCY1A1
Phenotype: Moyamoya phenomenon (HP:0011834)
Associated disease: MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA (OMIM:615750)
Gene: GUCY1A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA (OMIM:615750)
Gene: GUCY1A1
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: Moyamoya disease with early-onset achalasia (ORPHA:401945)
Gene: GUCY1A1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA (OMIM:615750)
Gene: GUCY1A1
Phenotype: Impotence (HP:0000802)
Associated disease: MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA (OMIM:615750)
Gene: GUCY1A1
Phenotype: Childhood onset (HP:0011463)
Associated disease: MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA (OMIM:615750)
Gene: GUCY1A1
Phenotype: Hypertension (HP:0000822)
Associated disease: MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA (OMIM:615750)
Gene: GUCY1A1
Phenotype: Hypertension (HP:0000822)
Associated disease: Moyamoya disease with early-onset achalasia (ORPHA:401945)
Gene: GUCY1A1
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA (OMIM:615750)
Gene: GUCY1A1
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Moyamoya disease with early-onset achalasia (ORPHA:401945)
Gene: GUCY1A1
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA (OMIM:615750)
Gene: GUCY1A1
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: Moyamoya disease with early-onset achalasia (ORPHA:401945)
Gene: GUCY1A1
Phenotype: Abnormal platelet aggregation (HP:0030402)
Associated disease: Moyamoya disease with early-onset achalasia (ORPHA:401945)
Gene: GUCY1A1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA (OMIM:615750)
Gene: GUCY1A1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Moyamoya disease with early-onset achalasia (ORPHA:401945)
Gene: GUCY2C
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MECONIUM ILEUS (OMIM:614665)
Gene: GUCY2C
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DIARRHEA 6 (OMIM:614616)
Gene: GUCY2C
Phenotype: Abdominal pain (HP:0002027)
Associated disease: DIARRHEA 6 (OMIM:614616)
Gene: GUCY2C
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: MECONIUM ILEUS (OMIM:614665)
Gene: GUCY2C
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: DIARRHEA 6 (OMIM:614616)
Gene: GUCY2C
Phenotype: Decreased circulating vitamin B12 concentration (HP:0100502)
Associated disease: DIARRHEA 6 (OMIM:614616)
Gene: GUCY2C
Phenotype: Infantile onset (HP:0003593)
Associated disease: DIARRHEA 6 (OMIM:614616)
Gene: GUCY2C
Phenotype: Congenital onset (HP:0003577)
Associated disease: MECONIUM ILEUS (OMIM:614665)
Gene: GUCY2C
Phenotype: Meteorism (HP:6000319)
Associated disease: DIARRHEA 6 (OMIM:614616)
Gene: GUCY2C
Phenotype: Microcolon (HP:0004388)
Associated disease: MECONIUM ILEUS (OMIM:614665)
Gene: GUCY2C
Phenotype: Meconium ileus (HP:0004401)
Associated disease: MECONIUM ILEUS (OMIM:614665)
Gene: GUCY2C
Phenotype: Abnormal sweat electrolytes (HP:0040128)
Associated disease: MECONIUM ILEUS (OMIM:614665)
Gene: GUCY2C
Phenotype: Crohn's disease (HP:0100280)
Associated disease: DIARRHEA 6 (OMIM:614616)
Gene: GUSB
Phenotype: Poor speech (HP:0002465)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GUSB
Phenotype: Reduced tissue beta-glucuronidase activity (HP:0034859)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GUSB
Phenotype: Motor delay (HP:0001270)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Hypotonia (HP:0001252)
Associated disease: Beta-glucuronidase deficiency; Sly disease; MPS7; MPSVII; Mucopolysaccharidosis type VII; Mucopolysaccharidosis type 7 (ORPHA:584)
Gene: GUSB
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Beta-glucuronidase deficiency; Sly disease; MPS7; MPSVII; Mucopolysaccharidosis type VII; Mucopolysaccharidosis type 7 (ORPHA:584)
Gene: GUSB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GUSB
Phenotype: Acetabular dysplasia (HP:0008807)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Loud snoring (HP:0025372)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Beta-glucuronidase deficiency; Sly disease; MPS7; MPSVII; Mucopolysaccharidosis type VII; Mucopolysaccharidosis type 7 (ORPHA:584)
Gene: GUSB
Phenotype: Joint stiffness (HP:0001387)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Beta-glucuronidase deficiency; Sly disease; MPS7; MPSVII; Mucopolysaccharidosis type VII; Mucopolysaccharidosis type 7 (ORPHA:584)
Gene: GUSB
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GUSB
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Large iliac wing (HP:0008818)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Proximal tapering of metacarpals (HP:0006119)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GUSB
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GUSB
Phenotype: Scoliosis (HP:0002650)
Associated disease: Beta-glucuronidase deficiency; Sly disease; MPS7; MPSVII; Mucopolysaccharidosis type VII; Mucopolysaccharidosis type 7 (ORPHA:584)
Gene: GUSB
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GUSB
Phenotype: Scoliosis (HP:0002650)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GUSB
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Macroglossia (HP:0000158)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Hepatitis (HP:0012115)
Associated disease: Beta-glucuronidase deficiency; Sly disease; MPS7; MPSVII; Mucopolysaccharidosis type VII; Mucopolysaccharidosis type 7 (ORPHA:584)
Gene: GUSB
Phenotype: Diaphyseal undertubulation (HP:0005019)
Associated disease: Beta-glucuronidase deficiency; Sly disease; MPS7; MPSVII; Mucopolysaccharidosis type VII; Mucopolysaccharidosis type 7 (ORPHA:584)
Gene: GUSB
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Narrow greater sciatic notch (HP:0003375)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GUSB
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Anterior beaking of lower thoracic vertebrae (HP:0004607)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)