TaoMedAI/RareMedData huggingface dataset:
Gene: CNGA3
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CNGA3
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGA3
Phenotype: Nyctalopia (HP:0000662)
Associated disease: ACHROMATOPSIA 2 (OMIM:216900)
Gene: CNGA3
Phenotype: Inner retinal layer loss on macular OCT (HP:0030620)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGA3
Phenotype: Color vision test abnormality (HP:0030584)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGA3
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGA3
Phenotype: Childhood onset (HP:0011463)
Associated disease: ACHROMATOPSIA 2 (OMIM:216900)
Gene: CNGA3
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGA3
Phenotype: Achromatopsia (HP:0011516)
Associated disease: ACHROMATOPSIA 2 (OMIM:216900)
Gene: CNGA3
Phenotype: Absent foveal reflex (HP:0030825)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGA3
Phenotype: Absent foveal reflex (HP:0030825)
Associated disease: ACHROMATOPSIA 2 (OMIM:216900)
Gene: CNGA3
Phenotype: Dull foveal reflex (HP:0034362)
Associated disease: ACHROMATOPSIA 2 (OMIM:216900)
Gene: CNGA3
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGA3
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CNGA3
Phenotype: Eccentric visual fixation (HP:0025549)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGA3
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGA3
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: ACHROMATOPSIA 2 (OMIM:216900)
Gene: CNGA3
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGA3
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CNGA3
Phenotype: Abnormal pupillary light reflex (HP:0007695)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGA3
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CNGA3
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGA3
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGA3
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGA3
Phenotype: Monochromacy (HP:0007803)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGA3
Phenotype: Retinal thinning (HP:0030329)
Associated disease: ACHROMATOPSIA 2 (OMIM:216900)
Gene: CNGA3
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CNGA3
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGA3
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CNGA3
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CNGA3
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGA3
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGA3
Phenotype: Abnormality of refraction (HP:0000539)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGA3
Phenotype: Color vision defect (HP:0000551)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CNGA3
Phenotype: Color vision defect (HP:0000551)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGA3
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CNGA3
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGA3
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGA3
Phenotype: Myopia (HP:0000545)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNP
Phenotype: Hypertonia (HP:0001276)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 20 (OMIM:619071)
Gene: CNP
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 20 (OMIM:619071)
Gene: CNP
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 20 (OMIM:619071)
Gene: CNP
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 20 (OMIM:619071)
Gene: CNP
Phenotype: Dystonia (HP:0001332)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 20 (OMIM:619071)
Gene: CNP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 20 (OMIM:619071)
Gene: CNP
Phenotype: Scoliosis (HP:0002650)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 20 (OMIM:619071)
Gene: CNP
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 20 (OMIM:619071)
Gene: CNP
Phenotype: Babinski sign (HP:0003487)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 20 (OMIM:619071)
Gene: CNP
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 20 (OMIM:619071)
Gene: CNP
Phenotype: Developmental regression (HP:0002376)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 20 (OMIM:619071)
Gene: CNP
Phenotype: Hirsutism (HP:0001007)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 20 (OMIM:619071)
Gene: CNP
Phenotype: Irritability (HP:0000737)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 20 (OMIM:619071)
Gene: CNP
Phenotype: Elevated brain choline level by MRS (HP:0012706)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 20 (OMIM:619071)
Gene: CNP
Phenotype: Reduced brain N-acetyl aspartate level by MRS (HP:0012708)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 20 (OMIM:619071)
Gene: CNP
Phenotype: Childhood onset (HP:0011463)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 20 (OMIM:619071)
Gene: CNP
Phenotype: Coarse facial features (HP:0000280)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 20 (OMIM:619071)
Gene: CNP
Phenotype: Punctate periventricular T2 hyperintense foci (HP:0030081)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 20 (OMIM:619071)
Gene: CNP
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 20 (OMIM:619071)
Gene: CNP
Phenotype: Chronic constipation (HP:0012450)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 20 (OMIM:619071)
Gene: CNP
Phenotype: Torticollis (HP:0000473)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 20 (OMIM:619071)
Gene: CNP
Phenotype: Ptosis (HP:0000508)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 20 (OMIM:619071)
Gene: CNTN1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: MYOPATHY, CONGENITAL, COMPTON-NORTH (OMIM:612540)
Gene: CNTN1
Phenotype: Areflexia (HP:0001284)
Associated disease: MYOPATHY, CONGENITAL, COMPTON-NORTH (OMIM:612540)
Gene: CNTN1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MYOPATHY, CONGENITAL, COMPTON-NORTH (OMIM:612540)
Gene: CNTN1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MYOPATHY, CONGENITAL, COMPTON-NORTH (OMIM:612540)
Gene: CNTN1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYOPATHY, CONGENITAL, COMPTON-NORTH (OMIM:612540)
Gene: CNTN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOPATHY, CONGENITAL, COMPTON-NORTH (OMIM:612540)
Gene: CNTN1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: MYOPATHY, CONGENITAL, COMPTON-NORTH (OMIM:612540)
Gene: CNTN1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: MYOPATHY, CONGENITAL, COMPTON-NORTH (OMIM:612540)
Gene: CNTN1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MYOPATHY, CONGENITAL, COMPTON-NORTH (OMIM:612540)
Gene: CNTN1
Phenotype: Poor suck (HP:0002033)
Associated disease: MYOPATHY, CONGENITAL, COMPTON-NORTH (OMIM:612540)
Gene: CNTN1
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: MYOPATHY, CONGENITAL, COMPTON-NORTH (OMIM:612540)
Gene: CNTN1
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: MYOPATHY, CONGENITAL, COMPTON-NORTH (OMIM:612540)
Gene: CNTN1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MYOPATHY, CONGENITAL, COMPTON-NORTH (OMIM:612540)
Gene: CNTN1
Phenotype: Jaw contracture (HP:0033333)
Associated disease: MYOPATHY, CONGENITAL, COMPTON-NORTH (OMIM:612540)
Gene: CNTN1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MYOPATHY, CONGENITAL, COMPTON-NORTH (OMIM:612540)
Gene: CNTN1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MYOPATHY, CONGENITAL, COMPTON-NORTH (OMIM:612540)
Gene: CNTN1
Phenotype: Akinesia (HP:0002304)
Associated disease: MYOPATHY, CONGENITAL, COMPTON-NORTH (OMIM:612540)
Gene: CNTN1
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: MYOPATHY, CONGENITAL, COMPTON-NORTH (OMIM:612540)
Gene: CNTN1
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: MYOPATHY, CONGENITAL, COMPTON-NORTH (OMIM:612540)
Gene: CNTN1
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: MYOPATHY, CONGENITAL, COMPTON-NORTH (OMIM:612540)
Gene: CNTN1
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: MYOPATHY, CONGENITAL, COMPTON-NORTH (OMIM:612540)
Gene: CNTN1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: MYOPATHY, CONGENITAL, COMPTON-NORTH (OMIM:612540)
Gene: CNTN1
Phenotype: High palate (HP:0000218)
Associated disease: MYOPATHY, CONGENITAL, COMPTON-NORTH (OMIM:612540)
Gene: CNTN1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: MYOPATHY, CONGENITAL, COMPTON-NORTH (OMIM:612540)
Gene: CNTN1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: MYOPATHY, CONGENITAL, COMPTON-NORTH (OMIM:612540)
Gene: CNTN1
Phenotype: Death in infancy (HP:0001522)
Associated disease: MYOPATHY, CONGENITAL, COMPTON-NORTH (OMIM:612540)
Gene: CNTN1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MYOPATHY, CONGENITAL, COMPTON-NORTH (OMIM:612540)
Gene: CNTN1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: MYOPATHY, CONGENITAL, COMPTON-NORTH (OMIM:612540)
Gene: CNTN1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MYOPATHY, CONGENITAL, COMPTON-NORTH (OMIM:612540)
Gene: CNTN1
Phenotype: Premature birth (HP:0001622)
Associated disease: MYOPATHY, CONGENITAL, COMPTON-NORTH (OMIM:612540)
Gene: CNTN1
Phenotype: Oval face (HP:0000300)
Associated disease: MYOPATHY, CONGENITAL, COMPTON-NORTH (OMIM:612540)
Gene: COL1A1
Phenotype: Pulp calcification (HP:0003771)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Hyperesthesia (HP:0100963)
Associated disease: Caffey disease; Infantile cortical hyperostosis (ORPHA:1310)
Gene: COL1A1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 (OMIM:130060)
Gene: COL1A1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1 (OMIM:619115)
Gene: COL1A1
Phenotype: Orthostatic hypotension (HP:0001278)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Motor delay (HP:0001270)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 (OMIM:130060)
Gene: COL1A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Ehlers-Danlos syndrome, arthrochalasia type; Arthrochalasia EDS; Ehlers-Danlos syndrome type 7; aEDS; Arthrochalasis multiplex congenita; EDS VII; Arthrochalasia Ehlers-Danlos syndrome (ORPHA:1899)
Gene: COL1A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A1
Phenotype: Shoulder dislocation (HP:0003834)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE I (OMIM:166200)
Gene: COL1A1
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Ehlers-Danlos syndrome, arthrochalasia type; Arthrochalasia EDS; Ehlers-Danlos syndrome type 7; aEDS; Arthrochalasis multiplex congenita; EDS VII; Arthrochalasia Ehlers-Danlos syndrome (ORPHA:1899)
Gene: COL1A1
Phenotype: Joint swelling (HP:0001386)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE I (OMIM:166200)
Gene: COL1A1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Ehlers-Danlos syndrome, arthrochalasia type; Arthrochalasia EDS; Ehlers-Danlos syndrome type 7; aEDS; Arthrochalasis multiplex congenita; EDS VII; Arthrochalasia Ehlers-Danlos syndrome (ORPHA:1899)
Gene: COL1A1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Ehlers-Danlos syndrome, arthrochalasia type; Arthrochalasia EDS; Ehlers-Danlos syndrome type 7; aEDS; Arthrochalasis multiplex congenita; EDS VII; Arthrochalasia Ehlers-Danlos syndrome (ORPHA:1899)
Gene: COL1A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 (OMIM:130060)
Gene: COL1A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1 (OMIM:619115)
Gene: COL1A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE I (OMIM:166200)
Gene: COL1A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CAFFEY DISEASE (OMIM:114000)
Gene: COL1A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Ehlers-Danlos syndrome, arthrochalasia type; Arthrochalasia EDS; Ehlers-Danlos syndrome type 7; aEDS; Arthrochalasis multiplex congenita; EDS VII; Arthrochalasia Ehlers-Danlos syndrome (ORPHA:1899)
Gene: COL1A1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1 (OMIM:619115)
Gene: COL1A1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Ehlers-Danlos syndrome, arthrochalasia type; Arthrochalasia EDS; Ehlers-Danlos syndrome type 7; aEDS; Arthrochalasis multiplex congenita; EDS VII; Arthrochalasia Ehlers-Danlos syndrome (ORPHA:1899)
Gene: COL1A1
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Bladder diverticulum (HP:0000015)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A1
Phenotype: Platybasia (HP:0002691)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A1
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Caffey disease; Infantile cortical hyperostosis (ORPHA:1310)
Gene: COL1A1
Phenotype: Decreased palmar creases (HP:0006184)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Congenital bilateral hip dislocation (HP:0008780)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 (OMIM:130060)
Gene: COL1A1
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE I (OMIM:166200)
Gene: COL1A1
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 (OMIM:130060)
Gene: COL1A1
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Gene: COL1A1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Coxa valga (HP:0002673)
Associated disease: Ehlers-Danlos syndrome, arthrochalasia type; Arthrochalasia EDS; Ehlers-Danlos syndrome type 7; aEDS; Arthrochalasis multiplex congenita; EDS VII; Arthrochalasia Ehlers-Danlos syndrome (ORPHA:1899)
Gene: COL1A1
Phenotype: Thickened tibial cortex (HP:6000809)
Associated disease: CAFFEY DISEASE (OMIM:114000)
Gene: COL1A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OSTEOPOROSIS (OMIM:166710)
Gene: COL1A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 (OMIM:130060)
Gene: COL1A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAFFEY DISEASE (OMIM:114000)
Gene: COL1A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1 (OMIM:619115)
Gene: COL1A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Gene: COL1A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE I (OMIM:166200)
Gene: COL1A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 (OMIM:130060)
Gene: COL1A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Gene: COL1A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Ehlers-Danlos syndrome, arthrochalasia type; Arthrochalasia EDS; Ehlers-Danlos syndrome type 7; aEDS; Arthrochalasis multiplex congenita; EDS VII; Arthrochalasia Ehlers-Danlos syndrome (ORPHA:1899)
Gene: COL1A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1 (OMIM:619115)
Gene: COL1A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Caffey disease; Infantile cortical hyperostosis (ORPHA:1310)