TaoMedAI/RareMedData huggingface dataset:
Gene: ROBO1
Phenotype: Broad philtrum (HP:0000289)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Death in infancy (HP:0001522)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: ROBO1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: ROBO1
Phenotype: Subglottic stenosis (HP:0001607)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Decreased circulating ACTH concentration (HP:0002920)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Decreased circulating ACTH concentration (HP:0002920)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 8 (OMIM:620303)
Gene: ROBO1
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Broad forehead (HP:0000337)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Micrognathia (HP:0000347)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Dextrocardia (HP:0001651)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Hypoplasia of the bladder (HP:0005343)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Strabismus (HP:0000486)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Strabismus (HP:0000486)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 8 (OMIM:620303)
Gene: ROBO1
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Anhydramnios (HP:0025700)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Ptosis (HP:0000508)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 8 (OMIM:620303)
Gene: ROBO1
Phenotype: Decreased circulating luteinizing hormone level (HP:0030344)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 8 (OMIM:620303)
Gene: ROBO1
Phenotype: Decreased circulating follicle stimulating hormone concentration (HP:0030341)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 8 (OMIM:620303)
Gene: ROBO1
Phenotype: Decreased serum insulin-like growth factor 1 (HP:0030353)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 8 (OMIM:620303)
Gene: ROBO1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Gene: ROBO1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 8 (OMIM:620303)
Gene: ROBO2
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: VESICOURETERAL REFLUX 2 (OMIM:610878)
Gene: ROBO2
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: VESICOURETERAL REFLUX 2 (OMIM:610878)
Gene: ROBO2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VESICOURETERAL REFLUX 2 (OMIM:610878)
Gene: ROM1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 7 (OMIM:608133)
Gene: ROM1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: ROM1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ROM1
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ROM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 7 (OMIM:608133)
Gene: ROM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ROM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: ROM1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 7 (OMIM:608133)
Gene: ROM1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ROM1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: ROM1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ROM1
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ROM1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ROM1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ROM1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: ROM1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ROM1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ROM1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ROM1
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ROM1
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ROM1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ROM1
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ROM1
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ROM1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ROM1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 7 (OMIM:608133)
Gene: ROM1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: ROM1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ROM1
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ROM1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ROM1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ROM1
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ROM1
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ROM1
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ROM1
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ROM1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ROM1
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ROM1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ROM1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ROM1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ROM1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 7 (OMIM:608133)
Gene: ROM1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ROM1
Phenotype: Adult-onset night blindness (HP:0007830)
Associated disease: RETINITIS PIGMENTOSA 7 (OMIM:608133)
Gene: ROM1
Phenotype: Abnormality of fundus pigmentation (HP:0031605)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: ROM1
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ROM1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ROM1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ROM1
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ROM1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 7 (OMIM:608133)
Gene: ROM1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ROM1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: ROM1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ROM1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: RETINITIS PIGMENTOSA 7 (OMIM:608133)
Gene: ROM1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ROM1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ROM1
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: RETINITIS PIGMENTOSA 7 (OMIM:608133)
Gene: ROM1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ROM1
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ROM1
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: RETINITIS PIGMENTOSA 7 (OMIM:608133)
Gene: ROM1
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ROM1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ROM1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ROM1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ROM1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RORA
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA (OMIM:618060)
Gene: RORA
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA (OMIM:618060)
Gene: RORA
Phenotype: Motor delay (HP:0001270)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA (OMIM:618060)
Gene: RORA
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA (OMIM:618060)
Gene: RORA
Phenotype: Ataxia (HP:0001251)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA (OMIM:618060)
Gene: RORA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA (OMIM:618060)
Gene: RORA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA (OMIM:618060)
Gene: RORA
Phenotype: Borderline personality disorder (HP:0012076)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA (OMIM:618060)
Gene: RORA
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA (OMIM:618060)
Gene: RORA
Phenotype: Tremor (HP:0001337)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA (OMIM:618060)
Gene: RORA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA (OMIM:618060)
Gene: RORA
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA (OMIM:618060)
Gene: RORA
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA (OMIM:618060)
Gene: RORA
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA (OMIM:618060)
Gene: RORA
Phenotype: Eyelid myoclonus (HP:0025097)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA (OMIM:618060)
Gene: RORA
Phenotype: Incoordination (HP:0002311)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA (OMIM:618060)
Gene: RORA
Phenotype: Pontocerebellar atrophy (HP:0006879)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA (OMIM:618060)
Gene: RORA
Phenotype: Nystagmus (HP:0000639)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA (OMIM:618060)
Gene: RORA
Phenotype: Amblyopia (HP:0000646)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA (OMIM:618060)
Gene: RORA
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA (OMIM:618060)
Gene: RORA
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA (OMIM:618060)
Gene: RORA
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA (OMIM:618060)
Gene: RORA
Phenotype: Autistic behavior (HP:0000729)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA (OMIM:618060)
Gene: RORA
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA (OMIM:618060)
Gene: RORA
Phenotype: Strabismus (HP:0000486)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA (OMIM:618060)
Gene: RORA
Phenotype: Chronic constipation (HP:0012450)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA (OMIM:618060)
Gene: RORA
Phenotype: Esotropia (HP:0000565)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA (OMIM:618060)
Gene: RORA
Phenotype: Hypermetropia (HP:0000540)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA (OMIM:618060)
Gene: RORB
Phenotype: Seizure (HP:0001250)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15 (OMIM:618357)
Gene: RORB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15 (OMIM:618357)
Gene: RORB
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15 (OMIM:618357)
Gene: RORB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15 (OMIM:618357)
Gene: RORB
Phenotype: Myoclonus (HP:0001336)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15 (OMIM:618357)
Gene: RORB
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15 (OMIM:618357)
Gene: RORB
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15 (OMIM:618357)
Gene: RORB
Phenotype: Infantile onset (HP:0003593)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15 (OMIM:618357)
Gene: RORB
Phenotype: Eyelid myoclonus (HP:0025097)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15 (OMIM:618357)
Gene: RORB
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15 (OMIM:618357)
Gene: RORB
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15 (OMIM:618357)
Gene: RORB
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15 (OMIM:618357)
Gene: RORB
Phenotype: Atypical behavior (HP:0000708)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15 (OMIM:618357)
Gene: RORB
Phenotype: Childhood onset (HP:0011463)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15 (OMIM:618357)
Gene: RORB
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15 (OMIM:618357)
Gene: RORC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 42 (OMIM:616622)
Gene: RORC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RORC
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RORC
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RORC
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 42 (OMIM:616622)
Gene: RORC
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: IMMUNODEFICIENCY 42 (OMIM:616622)
Gene: RORC
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RORC
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RORC
Phenotype: BCGosis (HP:0020087)
Associated disease: IMMUNODEFICIENCY 42 (OMIM:616622)
Gene: RORC
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RORC
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RORC
Phenotype: Chronic oral candidiasis (HP:0009098)
Associated disease: IMMUNODEFICIENCY 42 (OMIM:616622)
Gene: RORC
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RORC
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RORC
Phenotype: Recurrent cutaneous fungal infections (HP:0011370)
Associated disease: IMMUNODEFICIENCY 42 (OMIM:616622)
Gene: RORC
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RORC
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RORC
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNODEFICIENCY 42 (OMIM:616622)
Gene: RORC
Phenotype: Hypoplasia of the thymus (HP:0000778)
Associated disease: IMMUNODEFICIENCY 42 (OMIM:616622)
Gene: RORC
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RORC
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RORC
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RORC
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RORC
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RORC
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RORC
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RORC
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RORC
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RORC
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RORC
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RORC
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RORC
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: IMMUNODEFICIENCY 42 (OMIM:616622)
Gene: RORC
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RORC
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY 42 (OMIM:616622)
Gene: RORC
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RORC
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RORC
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ROS1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: CCA; Cholangiocarcinoma; Bile duct cancer (ORPHA:70567)
Gene: ROS1
Phenotype: Anorexia (HP:0002039)
Associated disease: CCA; Cholangiocarcinoma; Bile duct cancer (ORPHA:70567)
Gene: ROS1
Phenotype: Biliary tract neoplasm (HP:0100574)
Associated disease: CCA; Cholangiocarcinoma; Bile duct cancer (ORPHA:70567)
Gene: ROS1
Phenotype: Acholic stools (HP:0011985)
Associated disease: CCA; Cholangiocarcinoma; Bile duct cancer (ORPHA:70567)
Gene: ROS1
Phenotype: Fever (HP:0001945)
Associated disease: CCA; Cholangiocarcinoma; Bile duct cancer (ORPHA:70567)
Gene: ROS1
Phenotype: Pruritus (HP:0000989)
Associated disease: CCA; Cholangiocarcinoma; Bile duct cancer (ORPHA:70567)
Gene: ROS1
Phenotype: Jaundice (HP:0000952)
Associated disease: CCA; Cholangiocarcinoma; Bile duct cancer (ORPHA:70567)
Gene: ROS1
Phenotype: Fatigue (HP:0012378)
Associated disease: CCA; Cholangiocarcinoma; Bile duct cancer (ORPHA:70567)
Gene: RP9
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RP9
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 9 (OMIM:180104)
Gene: RP9
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RP9
Phenotype: Macular atrophy (HP:0007401)
Associated disease: RETINITIS PIGMENTOSA 9 (OMIM:180104)
Gene: RP9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RP9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 9 (OMIM:180104)
Gene: RP9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RP9
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)