TaoMedAI/RareMedData huggingface dataset:
Gene: RIT1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RLBP1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RLBP1
Phenotype: Large central visual field defect (HP:0001129)
Associated disease: Västerbotten dystrophy; Bothnia retinal dystrophy (ORPHA:85128)
Gene: RLBP1
Phenotype: Lenticonus (HP:0001142)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RLBP1
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RLBP1
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RLBP1
Phenotype: Visual field defect (HP:0001123)
Associated disease: Västerbotten dystrophy; Bothnia retinal dystrophy (ORPHA:85128)
Gene: RLBP1
Phenotype: Macular atrophy (HP:0007401)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RLBP1
Phenotype: Retinal flecks (HP:0012045)
Associated disease: FUNDUS ALBIPUNCTATUS (OMIM:136880)
Gene: RLBP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RLBP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FUNDUS ALBIPUNCTATUS (OMIM:136880)
Gene: RLBP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEWFOUNDLAND ROD-CONE DYSTROPHY (OMIM:607476)
Gene: RLBP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BOTHNIA RETINAL DYSTROPHY (OMIM:607475)
Gene: RLBP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RLBP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FUNDUS ALBIPUNCTATUS (OMIM:136880)
Gene: RLBP1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RLBP1
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RLBP1
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RLBP1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RLBP1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: NEWFOUNDLAND ROD-CONE DYSTROPHY (OMIM:607476)
Gene: RLBP1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RLBP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEWFOUNDLAND ROD-CONE DYSTROPHY (OMIM:607476)
Gene: RLBP1
Phenotype: Abnormal light- and dark-adapted electroretinogram (HP:0008323)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RLBP1
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RLBP1
Phenotype: Retinitis (HP:0032118)
Associated disease: Västerbotten dystrophy; Bothnia retinal dystrophy (ORPHA:85128)
Gene: RLBP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RLBP1
Phenotype: Yellow/white lesions of the retina (HP:0030506)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RLBP1
Phenotype: Ring scotoma (HP:0030529)
Associated disease: NEWFOUNDLAND ROD-CONE DYSTROPHY (OMIM:607476)
Gene: RLBP1
Phenotype: Ring scotoma (HP:0030529)
Associated disease: Västerbotten dystrophy; Bothnia retinal dystrophy (ORPHA:85128)
Gene: RLBP1
Phenotype: Paracentral scotoma (HP:0030528)
Associated disease: Västerbotten dystrophy; Bothnia retinal dystrophy (ORPHA:85128)
Gene: RLBP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RLBP1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RLBP1
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RLBP1
Phenotype: Photophobia (HP:0000613)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RLBP1
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RLBP1
Phenotype: Abnormal choroid morphology (HP:0000610)
Associated disease: Västerbotten dystrophy; Bothnia retinal dystrophy (ORPHA:85128)
Gene: RLBP1
Phenotype: Macular degeneration (HP:0000608)
Associated disease: Västerbotten dystrophy; Bothnia retinal dystrophy (ORPHA:85128)
Gene: RLBP1
Phenotype: Macular degeneration (HP:0000608)
Associated disease: BOTHNIA RETINAL DYSTROPHY (OMIM:607475)
Gene: RLBP1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RLBP1
Phenotype: Central scotoma (HP:0000603)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RLBP1
Phenotype: Central scotoma (HP:0000603)
Associated disease: Västerbotten dystrophy; Bothnia retinal dystrophy (ORPHA:85128)
Gene: RLBP1
Phenotype: Central scotoma (HP:0000603)
Associated disease: NEWFOUNDLAND ROD-CONE DYSTROPHY (OMIM:607476)
Gene: RLBP1
Phenotype: Abnormal dark-adapted electroretinogram (HP:0030469)
Associated disease: Västerbotten dystrophy; Bothnia retinal dystrophy (ORPHA:85128)
Gene: RLBP1
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RLBP1
Phenotype: Undetectable dark-adapted electroretinogram (HP:0030474)
Associated disease: Västerbotten dystrophy; Bothnia retinal dystrophy (ORPHA:85128)
Gene: RLBP1
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RLBP1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RLBP1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Västerbotten dystrophy; Bothnia retinal dystrophy (ORPHA:85128)
Gene: RLBP1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RLBP1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RLBP1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: NEWFOUNDLAND ROD-CONE DYSTROPHY (OMIM:607476)
Gene: RLBP1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: BOTHNIA RETINAL DYSTROPHY (OMIM:607475)
Gene: RLBP1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: FUNDUS ALBIPUNCTATUS (OMIM:136880)
Gene: RLBP1
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RLBP1
Phenotype: Increased OCT-measured foveal thickness (HP:0030618)
Associated disease: Västerbotten dystrophy; Bothnia retinal dystrophy (ORPHA:85128)
Gene: RLBP1
Phenotype: Fundus albipunctatus (HP:0030642)
Associated disease: FUNDUS ALBIPUNCTATUS (OMIM:136880)
Gene: RLBP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RLBP1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RLBP1
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RLBP1
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RLBP1
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RLBP1
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RLBP1
Phenotype: Absent foveal reflex (HP:0030825)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RLBP1
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RLBP1
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: Västerbotten dystrophy; Bothnia retinal dystrophy (ORPHA:85128)
Gene: RLBP1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RLBP1
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RLBP1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RLBP1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RLBP1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Västerbotten dystrophy; Bothnia retinal dystrophy (ORPHA:85128)
Gene: RLBP1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: NEWFOUNDLAND ROD-CONE DYSTROPHY (OMIM:607476)
Gene: RLBP1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RLBP1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RLBP1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RLBP1
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RLBP1
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: Västerbotten dystrophy; Bothnia retinal dystrophy (ORPHA:85128)
Gene: RLBP1
Phenotype: Abnormality of fundus pigmentation (HP:0031605)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RLBP1
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RLBP1
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RLBP1
Phenotype: Electronegative electroretinogram (HP:0007984)
Associated disease: Västerbotten dystrophy; Bothnia retinal dystrophy (ORPHA:85128)
Gene: RLBP1
Phenotype: Progressive visual field defects (HP:0007987)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RLBP1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RLBP1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RLBP1
Phenotype: Abnormal foveal morphology (HP:0000493)
Associated disease: Västerbotten dystrophy; Bothnia retinal dystrophy (ORPHA:85128)
Gene: RLBP1
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RLBP1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RLBP1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: Västerbotten dystrophy; Bothnia retinal dystrophy (ORPHA:85128)
Gene: RLBP1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RLBP1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: BOTHNIA RETINAL DYSTROPHY (OMIM:607475)
Gene: RLBP1
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RLBP1
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Västerbotten dystrophy; Bothnia retinal dystrophy (ORPHA:85128)
Gene: RLBP1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RLBP1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RLBP1
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: Västerbotten dystrophy; Bothnia retinal dystrophy (ORPHA:85128)
Gene: RLBP1
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RLBP1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RLBP1
Phenotype: Scotoma (HP:0000575)
Associated disease: NEWFOUNDLAND ROD-CONE DYSTROPHY (OMIM:607476)
Gene: RLBP1
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RLBP1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: NEWFOUNDLAND ROD-CONE DYSTROPHY (OMIM:607476)
Gene: RLBP1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: BOTHNIA RETINAL DYSTROPHY (OMIM:607475)
Gene: RLBP1
Phenotype: Abnormality of refraction (HP:0000539)
Associated disease: Västerbotten dystrophy; Bothnia retinal dystrophy (ORPHA:85128)
Gene: RLBP1
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RLBP1
Phenotype: Color vision defect (HP:0000551)
Associated disease: Västerbotten dystrophy; Bothnia retinal dystrophy (ORPHA:85128)
Gene: RLBP1
Phenotype: Color vision defect (HP:0000551)
Associated disease: NEWFOUNDLAND ROD-CONE DYSTROPHY (OMIM:607476)
Gene: RLBP1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RLBP1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Västerbotten dystrophy; Bothnia retinal dystrophy (ORPHA:85128)
Gene: RLBP1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RLBP1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RLBP1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RMRP
Phenotype: Brachydactyly (HP:0001156)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RMRP
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RMRP
Phenotype: Sepsis (HP:0100806)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RMRP
Phenotype: Hypotonia (HP:0001252)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Hypotonia (HP:0001252)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RMRP
Phenotype: Absent pubertal growth spurt (HP:0031087)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Metaphyseal cupping of metacarpals (HP:0006028)
Associated disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS (OMIM:250460)
Gene: RMRP
Phenotype: Delayed ossification of carpal bones (HP:0001216)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RMRP
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS (OMIM:250460)
Gene: RMRP
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RMRP
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Desquamation of skin soon after birth (HP:0007549)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RMRP
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Sparse facial hair (HP:0007464)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RMRP
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS (OMIM:250460)
Gene: RMRP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Lymphoma (HP:0002665)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Lymphoma (HP:0002665)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RMRP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RMRP
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Scoliosis (HP:0002650)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Scoliosis (HP:0002650)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RMRP
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS (OMIM:250460)
Gene: RMRP
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RMRP
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Neonatal short-limb short stature (HP:0008921)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Rhizomelia (HP:0008905)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Rhizomelia (HP:0008905)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Macroglossia (HP:0000158)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Diaphyseal undertubulation (HP:0005019)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RMRP
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Recurrent infections (HP:0002719)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RMRP
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS (OMIM:250460)
Gene: RMRP
Phenotype: Anal stenosis (HP:0002025)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Malabsorption (HP:0002024)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Malabsorption (HP:0002024)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Constipation (HP:0002019)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Impaired lymphocyte transformation with phytohemagglutinin (HP:0003347)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Esophageal atresia (HP:0002032)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RMRP
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Cervical subluxation (HP:0003308)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)