TaoMedAI/RareMedData huggingface dataset:
Gene: PDE4D
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Gene: PDE4D
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE4D
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE4D
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Abnormal diaphysis morphology (HP:0000940)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Epicanthus (HP:0000286)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Broad face (HP:0000283)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Coarse facial features (HP:0000280)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Malar flattening (HP:0000272)
Associated disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Gene: PDE4D
Phenotype: Malar flattening (HP:0000272)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Abnormal morphology of the radius (HP:0002818)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Abnormal femur morphology (HP:0002823)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Brachycephaly (HP:0000248)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE4D
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE4D
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Gene: PDE4D
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Obesity (HP:0001513)
Associated disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Gene: PDE4D
Phenotype: Obesity (HP:0001513)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE4D
Phenotype: Flat face (HP:0012368)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Flat face (HP:0012368)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE4D
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Long philtrum (HP:0000343)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE4D
Phenotype: Micrognathia (HP:0000347)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Micromelia (HP:0002983)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Hypertelorism (HP:0000316)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Round face (HP:0000311)
Associated disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Gene: PDE4D
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Short philtrum (HP:0000322)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Genu varum (HP:0002970)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE4D
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Gene: PDE4D
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Prominent nasal tip (HP:0005274)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Gene: PDE4D
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Anteverted nares (HP:0000463)
Associated disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Gene: PDE4D
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Broad foot (HP:0001769)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Pes planus (HP:0001763)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Broad metatarsal (HP:0001783)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Prominent nose (HP:0000448)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE4D
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Telecanthus (HP:0000506)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Ptosis (HP:0000508)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Visual impairment (HP:0000505)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Short toe (HP:0001831)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Short toe (HP:0001831)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Esotropia (HP:0000565)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Hypermetropia (HP:0000540)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE6A
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6A
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 43 (OMIM:613810)
Gene: PDE6A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6A
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6A
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6A
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6A
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6A
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6A
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6A
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6A
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6A
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6A
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6A
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6A
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 43 (OMIM:613810)
Gene: PDE6A
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6A
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6A
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6A
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6A
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6A
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6A
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6A
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6A
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6A
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6A
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: RETINITIS PIGMENTOSA 43 (OMIM:613810)
Gene: PDE6A
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6A
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 43 (OMIM:613810)
Gene: PDE6A
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6A
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6A
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 43 (OMIM:613810)
Gene: PDE6A
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6A
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6A
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: RETINITIS PIGMENTOSA 43 (OMIM:613810)
Gene: PDE6A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6A
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6A
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6A
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6A
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 43 (OMIM:613810)
Gene: PDE6A
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6A
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: RETINITIS PIGMENTOSA 43 (OMIM:613810)
Gene: PDE6A
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6A
Phenotype: Visual impairment (HP:0000505)
Associated disease: RETINITIS PIGMENTOSA 43 (OMIM:613810)
Gene: PDE6A
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6A
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: RETINITIS PIGMENTOSA 43 (OMIM:613810)
Gene: PDE6A
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6A
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6A
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6A
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6A
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6A
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 43 (OMIM:613810)
Gene: PDE6A
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6A
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6C
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6C
Phenotype: Abnormal macular morphology (HP:0001103)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: PDE6C
Phenotype: Pendular nystagmus (HP:0012043)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: PDE6C
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6C
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONE DYSTROPHY 4 (OMIM:613093)
Gene: PDE6C
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6C
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6C
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CONE DYSTROPHY 4 (OMIM:613093)
Gene: PDE6C
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6C
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: PDE6C
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: CONE DYSTROPHY 4 (OMIM:613093)
Gene: PDE6C
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6C
Phenotype: Nystagmus (HP:0000639)
Associated disease: CONE DYSTROPHY 4 (OMIM:613093)
Gene: PDE6C
Phenotype: Photophobia (HP:0000613)
Associated disease: Cone dystrophy; Progressive cone dystrophy (ORPHA:1871)
Gene: PDE6C
Phenotype: Photophobia (HP:0000613)
Associated disease: CONE DYSTROPHY 4 (OMIM:613093)
Gene: PDE6C
Phenotype: Photophobia (HP:0000613)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: PDE6C
Phenotype: Central scotoma (HP:0000603)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: PDE6C
Phenotype: Undetectable light-adapted electroretinogram (HP:0030465)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: PDE6C
Phenotype: Undetectable light-adapted electroretinogram (HP:0030465)
Associated disease: CONE DYSTROPHY 4 (OMIM:613093)
Gene: PDE6C
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6C
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: PDE6C
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: PDE6C
Phenotype: Childhood onset (HP:0011463)
Associated disease: CONE DYSTROPHY 4 (OMIM:613093)
Gene: PDE6C
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6C
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)