TaoMedAI/RareMedData huggingface dataset:
Gene: RPE65
Phenotype: Photophobia (HP:0000613)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: RPE65
Phenotype: Blurred vision (HP:0000622)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: RPE65
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RPE65
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPE65
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RPE65
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RPE65
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: RPE65
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RPE65
Phenotype: Nyctalopia (HP:0000662)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: RPE65
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RPE65
Phenotype: Nyctalopia (HP:0000662)
Associated disease: LEBER CONGENITAL AMAUROSIS 2 (OMIM:204100)
Gene: RPE65
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 20 (OMIM:613794)
Gene: RPE65
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RPE65
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPE65
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPE65
Phenotype: Abnormal corneal endothelium morphology (HP:0011488)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: RPE65
Phenotype: Posterior synechiae of the anterior chamber (HP:0011484)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: RPE65
Phenotype: Abnormal optic disc morphology (HP:0012795)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPE65
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RPE65
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 20 (OMIM:613794)
Gene: RPE65
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RPE65
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RPE65
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RPE65
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RPE65
Phenotype: Absent foveal reflex (HP:0030825)
Associated disease: LEBER CONGENITAL AMAUROSIS 2 (OMIM:204100)
Gene: RPE65
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RPE65
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: RPE65
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPE65
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RPE65
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: RPE65
Phenotype: Granular macular appearance (HP:0007793)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: RPE65
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RPE65
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: RPE65
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RPE65
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RPE65
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: RPE65
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT (OMIM:618697)
Gene: RPE65
Phenotype: Abnormal pupillary light reflex (HP:0007695)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: RPE65
Phenotype: Rhegmatogenous retinal detachment (HP:0012230)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: RPE65
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RPE65
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: RPE65
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RPE65
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: LEBER CONGENITAL AMAUROSIS 2 (OMIM:204100)
Gene: RPE65
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 20 (OMIM:613794)
Gene: RPE65
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: RPE65
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPE65
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RPE65
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: RPE65
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT (OMIM:618697)
Gene: RPE65
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RPE65
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RPE65
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPE65
Phenotype: Delayed early-childhood social milestone development (HP:0012434)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: RPE65
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPE65
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: RPE65
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RPE65
Phenotype: Cataract (HP:0000518)
Associated disease: LEBER CONGENITAL AMAUROSIS 2 (OMIM:204100)
Gene: RPE65
Phenotype: Cataract (HP:0000518)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPE65
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RPE65
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 20 (OMIM:613794)
Gene: RPE65
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPE65
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RPE65
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RPE65
Phenotype: Visual impairment (HP:0000505)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: RPE65
Phenotype: Visual impairment (HP:0000505)
Associated disease: RETINITIS PIGMENTOSA 20 (OMIM:613794)
Gene: RPE65
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RPE65
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: LEBER CONGENITAL AMAUROSIS 2 (OMIM:204100)
Gene: RPE65
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT (OMIM:618697)
Gene: RPE65
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RPE65
Phenotype: Exotropia (HP:0000577)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: RPE65
Phenotype: Keratoconus (HP:0000563)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPE65
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RPE65
Phenotype: Keratoconus (HP:0000563)
Associated disease: LEBER CONGENITAL AMAUROSIS 2 (OMIM:204100)
Gene: RPE65
Phenotype: Retinal detachment (HP:0000541)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: RPE65
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPE65
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: RPE65
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT (OMIM:618697)
Gene: RPE65
Phenotype: Undetectable electroretinogram (HP:0000550)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: RPE65
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RPE65
Phenotype: Color vision defect (HP:0000551)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: RPE65
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RPE65
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: RPE65
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RPE65
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: RPE65
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPE65
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RPE65
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: LEBER CONGENITAL AMAUROSIS 2 (OMIM:204100)
Gene: RPE65
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RPE65
Phenotype: Myopia (HP:0000545)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: RPL3L
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: RPL3L
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARDIOMYOPATHY, DILATED, 2D (OMIM:619371)
Gene: RPL3L
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: CARDIOMYOPATHY, DILATED, 2D (OMIM:619371)
Gene: RPL3L
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: RPL3L
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: RPL3L
Phenotype: Infantile onset (HP:0003593)
Associated disease: CARDIOMYOPATHY, DILATED, 2D (OMIM:619371)
Gene: RPL3L
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CARDIOMYOPATHY, DILATED, 2D (OMIM:619371)
Gene: RPL3L
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: CARDIOMYOPATHY, DILATED, 2D (OMIM:619371)
Gene: RPL3L
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: RPL3L
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: RPL3L
Phenotype: Right atrial enlargement (HP:0030718)
Associated disease: CARDIOMYOPATHY, DILATED, 2D (OMIM:619371)
Gene: RPL3L
Phenotype: Muscular ventricular septal defect (HP:0011623)
Associated disease: CARDIOMYOPATHY, DILATED, 2D (OMIM:619371)
Gene: RPL3L
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: RPL3L
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: RPL3L
Phenotype: Interstitial cardiac fibrosis (HP:0031329)
Associated disease: CARDIOMYOPATHY, DILATED, 2D (OMIM:619371)
Gene: RPL3L
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: RPL3L
Phenotype: Perinuclear cardiomyocyte vacuolization (HP:0033997)
Associated disease: CARDIOMYOPATHY, DILATED, 2D (OMIM:619371)
Gene: RPL3L
Phenotype: Death in infancy (HP:0001522)
Associated disease: CARDIOMYOPATHY, DILATED, 2D (OMIM:619371)
Gene: RPL3L
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: RPL3L
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: CARDIOMYOPATHY, DILATED, 2D (OMIM:619371)
Gene: RPL3L
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: RPL3L
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 2D (OMIM:619371)
Gene: RPL3L
Phenotype: Cardiogenic shock (HP:0030149)
Associated disease: CARDIOMYOPATHY, DILATED, 2D (OMIM:619371)
Gene: RPL3L
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: CARDIOMYOPATHY, DILATED, 2D (OMIM:619371)
Gene: RPL3L
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: CARDIOMYOPATHY, DILATED, 2D (OMIM:619371)
Gene: RPL3L
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: RPL3L
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: RPL3L
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: RPL5
Phenotype: Partial duplication of thumb phalanx (HP:0009944)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL5
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: DIAMOND-BLACKFAN ANEMIA 6 (OMIM:612561)
Gene: RPL5
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL5
Phenotype: Microtia (HP:0008551)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL5
Phenotype: Lethargy (HP:0001254)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL5
Phenotype: Abnormality of the thenar eminence (HP:0001227)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL5
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL5
Phenotype: Hypospadias (HP:0000047)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL5
Phenotype: Osteosarcoma (HP:0002669)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DIAMOND-BLACKFAN ANEMIA 6 (OMIM:612561)
Gene: RPL5
Phenotype: Cleft soft palate (HP:0000185)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL5
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DIAMOND-BLACKFAN ANEMIA 6 (OMIM:612561)
Gene: RPL5
Phenotype: Cleft palate (HP:0000175)
Associated disease: DIAMOND-BLACKFAN ANEMIA 6 (OMIM:612561)
Gene: RPL5
Phenotype: Erythroid hypoplasia (HP:0012133)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL5
Phenotype: Cleft lip (HP:0410030)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL5
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: DIAMOND-BLACKFAN ANEMIA 6 (OMIM:612561)
Gene: RPL5
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL5
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL5
Phenotype: Adenocarcinoma of the colon (HP:0040276)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL5
Phenotype: Persistence of hemoglobin F (HP:0011904)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL5
Phenotype: Persistence of hemoglobin F (HP:0011904)
Associated disease: DIAMOND-BLACKFAN ANEMIA 6 (OMIM:612561)
Gene: RPL5
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL5
Phenotype: Developmental glaucoma (HP:0001087)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL5
Phenotype: Radial artery aplasia (HP:0020118)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL5
Phenotype: Absent thumb (HP:0009777)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL5
Phenotype: Short thumb (HP:0009778)
Associated disease: DIAMOND-BLACKFAN ANEMIA 6 (OMIM:612561)
Gene: RPL5
Phenotype: Short thumb (HP:0009778)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL5
Phenotype: Macrocytic dyserythropoietic anemia (HP:0005532)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL5
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: DIAMOND-BLACKFAN ANEMIA 6 (OMIM:612561)
Gene: RPL5
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL5
Phenotype: Macrocytic anemia (HP:0001972)
Associated disease: DIAMOND-BLACKFAN ANEMIA 6 (OMIM:612561)
Gene: RPL5
Phenotype: Short stature (HP:0004322)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL5
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL5
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL5
Phenotype: Pallor (HP:0000980)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL5
Phenotype: Epicanthus (HP:0000286)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL5
Phenotype: Retrognathia (HP:0000278)
Associated disease: DIAMOND-BLACKFAN ANEMIA 6 (OMIM:612561)
Gene: RPL5
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL5
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL5
Phenotype: Abnormality of the head (HP:0000234)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL5
Phenotype: Microcephaly (HP:0000252)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)