TaoMedAI/RareMedData huggingface dataset:
Gene: PRPH2
Phenotype: Photophobia (HP:0000613)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PRPH2
Phenotype: Photophobia (HP:0000613)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: PRPH2
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPH2
Phenotype: Photophobia (HP:0000613)
Associated disease: CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 (OMIM:613105)
Gene: PRPH2
Phenotype: Photophobia (HP:0000613)
Associated disease: MACULAR DYSTROPHY, PATTERNED, 1 (OMIM:169150)
Gene: PRPH2
Phenotype: Photophobia (HP:0000613)
Associated disease: MACULAR DYSTROPHY, VITELLIFORM, 3 (OMIM:608161)
Gene: PRPH2
Phenotype: Abnormal choroid morphology (HP:0000610)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: PRPH2
Phenotype: Macular degeneration (HP:0000608)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: PRPH2
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPH2
Phenotype: Central scotoma (HP:0000603)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: PRPH2
Phenotype: Central scotoma (HP:0000603)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: PRPH2
Phenotype: Central scotoma (HP:0000603)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PRPH2
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PRPH2
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPH2
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPH2
Phenotype: Choriocapillaris atrophy (HP:0030491)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: PRPH2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPH2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: PRPH2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 7 (OMIM:608133)
Gene: PRPH2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PRPH2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPH2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: PRPH2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: MACULAR DYSTROPHY, PATTERNED, 1 (OMIM:169150)
Gene: PRPH2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: PRPH2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: FUNDUS ALBIPUNCTATUS (OMIM:136880)
Gene: PRPH2
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPH2
Phenotype: Foveal photoreceptor outer segment loss on macular OCT (HP:0030615)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: PRPH2
Phenotype: Perifoveal ring of hyperautofluorescence (HP:0030629)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: PRPH2
Phenotype: Hyperautofluorescent macular lesion (HP:0030631)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: PRPH2
Phenotype: Fundus albipunctatus (HP:0030642)
Associated disease: FUNDUS ALBIPUNCTATUS (OMIM:136880)
Gene: PRPH2
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPH2
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPH2
Phenotype: Photopsia (HP:0030786)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: PRPH2
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPH2
Phenotype: Drusen (HP:0011510)
Associated disease: MACULAR DYSTROPHY, VITELLIFORM, 3 (OMIM:608161)
Gene: PRPH2
Phenotype: Drusen (HP:0011510)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: PRPH2
Phenotype: Choroidal neovascularization (HP:0011506)
Associated disease: MACULAR DYSTROPHY, PATTERNED, 1 (OMIM:169150)
Gene: PRPH2
Phenotype: Choroidal neovascularization (HP:0011506)
Associated disease: MACULAR DYSTROPHY, VITELLIFORM, 3 (OMIM:608161)
Gene: PRPH2
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPH2
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: PRPH2
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPH2
Phenotype: Absent foveal reflex (HP:0030825)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: PRPH2
Phenotype: Absent foveal reflex (HP:0030825)
Associated disease: MACULAR DYSTROPHY, PATTERNED, 1 (OMIM:169150)
Gene: PRPH2
Phenotype: Abnormality of macular pigmentation (HP:0008002)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: PRPH2
Phenotype: Aplasia/Hypoplasia of the macula (HP:0008059)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: PRPH2
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPH2
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: PRPH2
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPH2
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PRPH2
Phenotype: Paroxysmal involuntary eye movements (HP:0007704)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: PRPH2
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPH2
Phenotype: Macular dystrophy (HP:0007754)
Associated disease: MACULAR DYSTROPHY, PATTERNED, 1 (OMIM:169150)
Gene: PRPH2
Phenotype: Macular dystrophy (HP:0007754)
Associated disease: MACULAR DYSTROPHY, VITELLIFORM, 3 (OMIM:608161)
Gene: PRPH2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPH2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPH2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PRPH2
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: AVMD; Adult-onset foveomacular dystrophy; Adult-onset vitelliform macular dystrophy; AOFMD; Pseudo-Best disease; Gass disease; Adult-onset foveomacular vitelliform dystrophy; Pseudo-vitelliform macular dystrophy; Adult-onset foveomacular dystrophy with choroidal neovascularization (ORPHA:99000)
Gene: PRPH2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPH2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 7 (OMIM:608133)
Gene: PRPH2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PRPH2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPH2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: PRPH2
Phenotype: Adult-onset night blindness (HP:0007830)
Associated disease: RETINITIS PIGMENTOSA 7 (OMIM:608133)
Gene: PRPH2
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: PRPH2
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: PRPH2
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: PRPH2
Phenotype: Hypopigmentation of the fundus (HP:0007894)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: PRPH2
Phenotype: Retinal nonattachment (HP:0007899)
Associated disease: AVMD; Adult-onset foveomacular dystrophy; Adult-onset vitelliform macular dystrophy; AOFMD; Pseudo-Best disease; Gass disease; Adult-onset foveomacular vitelliform dystrophy; Pseudo-vitelliform macular dystrophy; Adult-onset foveomacular dystrophy with choroidal neovascularization (ORPHA:99000)
Gene: PRPH2
Phenotype: Pattern dystrophy of the retina (HP:0007963)
Associated disease: MACULAR DYSTROPHY, PATTERNED, 1 (OMIM:169150)
Gene: PRPH2
Phenotype: Abnormality of fundus pigmentation (HP:0031605)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: PRPH2
Phenotype: Slow decrease in visual acuity (HP:0007924)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: PRPH2
Phenotype: Reticular retinal dystrophy (HP:0007913)
Associated disease: MACULAR DYSTROPHY, PATTERNED, 1 (OMIM:169150)
Gene: PRPH2
Phenotype: Retinal thinning (HP:0030329)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: PRPH2
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPH2
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: PRPH2
Phenotype: Absent retinal pigment epithelium (HP:0007980)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: PRPH2
Phenotype: Progressive visual field defects (HP:0007987)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: PRPH2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPH2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPH2
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: AVMD; Adult-onset foveomacular dystrophy; Adult-onset vitelliform macular dystrophy; AOFMD; Pseudo-Best disease; Gass disease; Adult-onset foveomacular vitelliform dystrophy; Pseudo-vitelliform macular dystrophy; Adult-onset foveomacular dystrophy with choroidal neovascularization (ORPHA:99000)
Gene: PRPH2
Phenotype: Abnormal foveal morphology (HP:0000493)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: PRPH2
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPH2
Phenotype: Late young adult onset (HP:0025710)
Associated disease: MACULAR DYSTROPHY, VITELLIFORM, 3 (OMIM:608161)
Gene: PRPH2
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PRPH2
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: MACULAR DYSTROPHY, VITELLIFORM, 3 (OMIM:608161)
Gene: PRPH2
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: MACULAR DYSTROPHY, PATTERNED, 1 (OMIM:169150)
Gene: PRPH2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 7 (OMIM:608133)
Gene: PRPH2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPH2
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPH2
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: RETINITIS PIGMENTOSA 7 (OMIM:608133)
Gene: PRPH2
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: PRPH2
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PRPH2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PRPH2
Phenotype: Visual impairment (HP:0000505)
Associated disease: AVMD; Adult-onset foveomacular dystrophy; Adult-onset vitelliform macular dystrophy; AOFMD; Pseudo-Best disease; Gass disease; Adult-onset foveomacular vitelliform dystrophy; Pseudo-vitelliform macular dystrophy; Adult-onset foveomacular dystrophy with choroidal neovascularization (ORPHA:99000)
Gene: PRPH2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPH2
Phenotype: Visual impairment (HP:0000505)
Associated disease: MACULAR DYSTROPHY, VITELLIFORM, 3 (OMIM:608161)
Gene: PRPH2
Phenotype: Visual impairment (HP:0000505)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: PRPH2
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: AVMD; Adult-onset foveomacular dystrophy; Adult-onset vitelliform macular dystrophy; AOFMD; Pseudo-Best disease; Gass disease; Adult-onset foveomacular vitelliform dystrophy; Pseudo-vitelliform macular dystrophy; Adult-onset foveomacular dystrophy with choroidal neovascularization (ORPHA:99000)
Gene: PRPH2
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPH2
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: RETINITIS PIGMENTOSA 7 (OMIM:608133)
Gene: PRPH2
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: PRPH2
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPH2
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPH2
Phenotype: Visual loss (HP:0000572)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: PRPH2
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: RETINITIS PIGMENTOSA 7 (OMIM:608133)
Gene: PRPH2
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 (OMIM:613105)
Gene: PRPH2
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: PRPH2
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPH2
Phenotype: Color vision defect (HP:0000551)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: PRPH2
Phenotype: Color vision defect (HP:0000551)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PRPH2
Phenotype: Color vision defect (HP:0000551)
Associated disease: MACULAR DYSTROPHY, VITELLIFORM, 3 (OMIM:608161)
Gene: PRPH2
Phenotype: Color vision defect (HP:0000551)
Associated disease: AVMD; Adult-onset foveomacular dystrophy; Adult-onset vitelliform macular dystrophy; AOFMD; Pseudo-Best disease; Gass disease; Adult-onset foveomacular vitelliform dystrophy; Pseudo-vitelliform macular dystrophy; Adult-onset foveomacular dystrophy with choroidal neovascularization (ORPHA:99000)
Gene: PRPH2
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPH2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPH2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PRPH2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPH2
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDX
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 24 (OMIM:611022)
Gene: RDX
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 24 (OMIM:611022)
Gene: RDX
Phenotype: Profound sensorineural hearing impairment (HP:0011476)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 24 (OMIM:611022)
Gene: RECQL
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Attached earlobe (HP:0009907)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Microtia (HP:0008551)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Livedo reticularis (HP:0033505)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Red eye (HP:0025337)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Absent lower eyelashes (HP:0007646)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Long thumb (HP:0032524)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Recurrent infections (HP:0002719)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Infantile onset (HP:0003593)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Hyperconvex thumb nails (HP:0008407)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Hirsutism (HP:0001007)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Prominence of the premaxilla (HP:0010759)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Anemia (HP:0001903)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Delayed eruption of permanent teeth (HP:0000696)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Dental crowding (HP:0000678)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Short stature (HP:0004322)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Dry skin (HP:0000958)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Thin skin (HP:0000963)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Scaling skin (HP:0040189)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Microcephaly (HP:0000252)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Growth delay (HP:0001510)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Round face (HP:0000311)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Deeply set eye (HP:0000490)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Anteverted nares (HP:0000463)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: RECQL
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: RECON PROGEROID SYNDROME (OMIM:620370)
Gene: REL
Phenotype: Persistent CMV viremia (HP:0032247)
Associated disease: IMMUNODEFICIENCY 92 (OMIM:619652)
Gene: REL
Phenotype: Increased total lymphocyte count (HP:0100827)
Associated disease: IMMUNODEFICIENCY 92 (OMIM:619652)
Gene: REL
Phenotype: Partial absence of specific antibody response to tetanus vaccine (HP:0410297)
Associated disease: IMMUNODEFICIENCY 92 (OMIM:619652)
Gene: REL
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: IMMUNODEFICIENCY 92 (OMIM:619652)
Gene: REL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 92 (OMIM:619652)
Gene: REL
Phenotype: Recurrent oral herpes (HP:0410028)
Associated disease: IMMUNODEFICIENCY 92 (OMIM:619652)
Gene: REL
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: IMMUNODEFICIENCY 92 (OMIM:619652)
Gene: REL
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNODEFICIENCY 92 (OMIM:619652)
Gene: REL
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: IMMUNODEFICIENCY 92 (OMIM:619652)
Gene: REL
Phenotype: Sclerosing cholangitis (HP:0030991)
Associated disease: IMMUNODEFICIENCY 92 (OMIM:619652)
Gene: REL
Phenotype: Pneumonia (HP:0002090)
Associated disease: IMMUNODEFICIENCY 92 (OMIM:619652)
Gene: REL
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: IMMUNODEFICIENCY 92 (OMIM:619652)
Gene: REL
Phenotype: BCGosis (HP:0020087)
Associated disease: IMMUNODEFICIENCY 92 (OMIM:619652)
Gene: REL
Phenotype: Esophagitis (HP:0100633)
Associated disease: IMMUNODEFICIENCY 92 (OMIM:619652)
Gene: REL
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: IMMUNODEFICIENCY 92 (OMIM:619652)
Gene: REL
Phenotype: Recurrent fever (HP:0001954)
Associated disease: IMMUNODEFICIENCY 92 (OMIM:619652)
Gene: REL
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY 92 (OMIM:619652)
Gene: REL
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNODEFICIENCY 92 (OMIM:619652)
Gene: REL
Phenotype: Abnormal B cell proliferation (HP:0031380)
Associated disease: IMMUNODEFICIENCY 92 (OMIM:619652)
Gene: REL
Phenotype: Cholangitis (HP:0030151)
Associated disease: IMMUNODEFICIENCY 92 (OMIM:619652)
Gene: REL
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: IMMUNODEFICIENCY 92 (OMIM:619652)
Gene: REL
Phenotype: Decreased class-switched memory B cell proportion (HP:0030388)
Associated disease: IMMUNODEFICIENCY 92 (OMIM:619652)
Gene: RELA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MUCOCUTANEOUS ULCERATION, CHRONIC (OMIM:618287)
Gene: RELA
Phenotype: Oral ulcer (HP:0000155)
Associated disease: MUCOCUTANEOUS ULCERATION, CHRONIC (OMIM:618287)
Gene: RELA
Phenotype: Ileitis (HP:0032564)
Associated disease: MUCOCUTANEOUS ULCERATION, CHRONIC (OMIM:618287)