TaoMedAI/RareMedData huggingface dataset:
Gene: NDP
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Erectile dysfunction (HP:0100639)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Ectopic calcification (HP:0010766)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: NDP
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NDP
Phenotype: Macular telangiectasia (HP:0030503)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: NDP
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: NORRIE DISEASE (OMIM:310600)
Gene: NDP
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Nystagmus (HP:0000639)
Associated disease: EXUDATIVE VITREORETINOPATHY 2, X-LINKED (OMIM:305390)
Gene: NDP
Phenotype: Nystagmus (HP:0000639)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Amblyopia (HP:0000646)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: NDP
Phenotype: Amblyopia (HP:0000646)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: NDP
Phenotype: Optic atrophy (HP:0000648)
Associated disease: NORRIE DISEASE (OMIM:310600)
Gene: NDP
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Sclerocornea (HP:0000647)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Blindness (HP:0000618)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: NDP
Phenotype: Blindness (HP:0000618)
Associated disease: NORRIE DISEASE (OMIM:310600)
Gene: NDP
Phenotype: Blindness (HP:0000618)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: NDP
Phenotype: Blindness (HP:0000618)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: NDP
Phenotype: Blindness (HP:0000618)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Abnormal pupil morphology (HP:0000615)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Exudative vitreoretinopathy (HP:0030490)
Associated disease: EXUDATIVE VITREORETINOPATHY 2, X-LINKED (OMIM:305390)
Gene: NDP
Phenotype: Macular exudate (HP:0030496)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: NDP
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: NDP
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NDP
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: NDP
Phenotype: Abnormal vitreous humor morphology (HP:0004327)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Cachexia (HP:0004326)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Retinal neovascularization (HP:0030666)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: NDP
Phenotype: Retinal neovascularization (HP:0030666)
Associated disease: EXUDATIVE VITREORETINOPATHY 2, X-LINKED (OMIM:305390)
Gene: NDP
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: NDP
Phenotype: Epiretinal membrane (HP:0100014)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: NDP
Phenotype: Neoplasm of the eye (HP:0100012)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Hallucinations (HP:0000738)
Associated disease: NORRIE DISEASE (OMIM:310600)
Gene: NDP
Phenotype: Hallucinations (HP:0000738)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Irritability (HP:0000737)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Anxiety (HP:0000739)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: NORRIE DISEASE (OMIM:310600)
Gene: NDP
Phenotype: Autism (HP:0000717)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Dementia (HP:0000726)
Associated disease: NORRIE DISEASE (OMIM:310600)
Gene: NDP
Phenotype: Psychosis (HP:0000709)
Associated disease: NORRIE DISEASE (OMIM:310600)
Gene: NDP
Phenotype: Psychosis (HP:0000709)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Abnormal optic disc morphology (HP:0012795)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: NDP
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NDP
Phenotype: Childhood onset (HP:0011463)
Associated disease: EXUDATIVE VITREORETINOPATHY 2, X-LINKED (OMIM:305390)
Gene: NDP
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NDP
Phenotype: Hyaloid vascular remnant and retrolental mass (HP:0030744)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: NDP
Phenotype: Glial remnants anterior to the optic disc (HP:0030743)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: NDP
Phenotype: Subretinal exudate (HP:0011532)
Associated disease: EXUDATIVE VITREORETINOPATHY 2, X-LINKED (OMIM:305390)
Gene: NDP
Phenotype: Retinal hole (HP:0011530)
Associated disease: EXUDATIVE VITREORETINOPATHY 2, X-LINKED (OMIM:305390)
Gene: NDP
Phenotype: Retinal vascular tortuosity (HP:0012841)
Associated disease: EXUDATIVE VITREORETINOPATHY 2, X-LINKED (OMIM:305390)
Gene: NDP
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Macular edema (HP:0040049)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: NDP
Phenotype: Aplasia/Hypoplasia of the lens (HP:0008063)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Retinal fold (HP:0008052)
Associated disease: NORRIE DISEASE (OMIM:310600)
Gene: NDP
Phenotype: Retinal fold (HP:0008052)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: NDP
Phenotype: Retinal fold (HP:0008052)
Associated disease: EXUDATIVE VITREORETINOPATHY 2, X-LINKED (OMIM:305390)
Gene: NDP
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Coats disease; Leber miliary aneurysm; Congenital retinal telangiectasia (ORPHA:190)
Gene: NDP
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: NDP
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Coats disease; Leber miliary aneurysm; Congenital retinal telangiectasia (ORPHA:190)
Gene: NDP
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Peripheral vitreous opacities (HP:0007710)
Associated disease: EXUDATIVE VITREORETINOPATHY 2, X-LINKED (OMIM:305390)
Gene: NDP
Phenotype: Malar flattening (HP:0000272)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: NDP
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: NORRIE DISEASE (OMIM:310600)
Gene: NDP
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NDP
Phenotype: Rhegmatogenous retinal detachment (HP:0012230)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: NDP
Phenotype: Microcephaly (HP:0000252)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Microcephaly (HP:0000252)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: NDP
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: NDP
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NDP
Phenotype: Anterior chamber synechiae (HP:0007833)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Subretinal fluid (HP:0031526)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: NDP
Phenotype: Abnormal helix morphology (HP:0011039)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: NDP
Phenotype: Abnormal cochlea morphology (HP:0000375)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: High myopia (HP:0011003)
Associated disease: EXUDATIVE VITREORETINOPATHY 2, X-LINKED (OMIM:305390)
Gene: NDP
Phenotype: Premature birth (HP:0001622)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: NDP
Phenotype: Corneal opacity (HP:0007957)
Associated disease: NORRIE DISEASE (OMIM:310600)
Gene: NDP
Phenotype: Corneal opacity (HP:0007957)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: NDP
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Tractional retinal detachment (HP:0007917)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: NDP
Phenotype: Tractional retinal detachment (HP:0007917)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: NDP
Phenotype: Tractional retinal detachment (HP:0007917)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: NDP
Phenotype: Vitreous hemorrhage (HP:0007902)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: NDP
Phenotype: Vitreous hemorrhage (HP:0007902)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: NDP
Phenotype: Intraretinal exudate (HP:0007989)
Associated disease: EXUDATIVE VITREORETINOPATHY 2, X-LINKED (OMIM:305390)
Gene: NDP
Phenotype: Remnants of the hyaloid vascular system (HP:0007968)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: NDP
Phenotype: Remnants of the hyaloid vascular system (HP:0007968)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Retinal dysplasia (HP:0007973)
Associated disease: NORRIE DISEASE (OMIM:310600)
Gene: NDP
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: NORRIE DISEASE (OMIM:310600)
Gene: NDP
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Macrotia (HP:0000400)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Venous insufficiency (HP:0005293)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Strabismus (HP:0000486)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: NDP
Phenotype: Strabismus (HP:0000486)
Associated disease: Coats disease; Leber miliary aneurysm; Congenital retinal telangiectasia (ORPHA:190)
Gene: NDP
Phenotype: Strabismus (HP:0000486)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: NDP
Phenotype: Microcornea (HP:0000482)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: NDP
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Deeply set eye (HP:0000490)
Associated disease: EXUDATIVE VITREORETINOPATHY 2, X-LINKED (OMIM:305390)
Gene: NDP
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Protruding ear (HP:0000411)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Cataract (HP:0000518)
Associated disease: NORRIE DISEASE (OMIM:310600)
Gene: NDP
Phenotype: Cataract (HP:0000518)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: NDP
Phenotype: Cataract (HP:0000518)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Cataract (HP:0000518)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: NDP
Phenotype: Cataract (HP:0000518)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: NDP
Phenotype: Cataract (HP:0000518)
Associated disease: Coats disease; Leber miliary aneurysm; Congenital retinal telangiectasia (ORPHA:190)
Gene: NDP
Phenotype: Developmental cataract (HP:0000519)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: NDP
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NDP
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: NDP
Phenotype: Glaucoma (HP:0000501)
Associated disease: Coats disease; Leber miliary aneurysm; Congenital retinal telangiectasia (ORPHA:190)
Gene: NDP
Phenotype: Glaucoma (HP:0000501)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NDP
Phenotype: Shallow anterior chamber (HP:0000594)
Associated disease: NORRIE DISEASE (OMIM:310600)
Gene: NDP
Phenotype: Shallow anterior chamber (HP:0000594)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: NDP
Phenotype: Shallow anterior chamber (HP:0000594)
Associated disease: EXUDATIVE VITREORETINOPATHY 2, X-LINKED (OMIM:305390)
Gene: NDP
Phenotype: Abnormal anterior chamber morphology (HP:0000593)
Associated disease: Coats disease; Leber miliary aneurysm; Congenital retinal telangiectasia (ORPHA:190)
Gene: NDP
Phenotype: Buphthalmos (HP:0000557)
Associated disease: NORRIE DISEASE (OMIM:310600)
Gene: NDP
Phenotype: Buphthalmos (HP:0000557)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: NDP
Phenotype: Leukocoria (HP:0000555)
Associated disease: NORRIE DISEASE (OMIM:310600)
Gene: NDP
Phenotype: Leukocoria (HP:0000555)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: NDP
Phenotype: Microphthalmia (HP:0000568)
Associated disease: NORRIE DISEASE (OMIM:310600)
Gene: NDP
Phenotype: Microphthalmia (HP:0000568)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: NDP
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: NDP
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Microphthalmia (HP:0000568)
Associated disease: EXUDATIVE VITREORETINOPATHY 2, X-LINKED (OMIM:305390)
Gene: NDP
Phenotype: Retinal detachment (HP:0000541)
Associated disease: NORRIE DISEASE (OMIM:310600)
Gene: NDP
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Coats disease; Leber miliary aneurysm; Congenital retinal telangiectasia (ORPHA:190)
Gene: NDP
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Retinal detachment (HP:0000541)
Associated disease: EXUDATIVE VITREORETINOPATHY 2, X-LINKED (OMIM:305390)
Gene: NDP
Phenotype: Abnormal chorioretinal morphology (HP:0000532)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: NDP
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NDP
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NDP
Phenotype: Myopia (HP:0000545)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: NDUFA1
Phenotype: Fetal distress (HP:0025116)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFA1
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFA1
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFA1
Phenotype: Poor head control (HP:0002421)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)