TaoMedAI/RareMedData huggingface dataset:
Gene: NDN
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: NDN
Phenotype: Short stature (HP:0004322)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Short stature (HP:0004322)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Short stature (HP:0004322)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: NDN
Phenotype: Short stature (HP:0004322)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Autism (HP:0000717)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Autism (HP:0000717)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Autism (HP:0000717)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Autistic behavior (HP:0000729)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Psychosis (HP:0000709)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Psychosis (HP:0000709)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Psychosis (HP:0000709)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Atypical behavior (HP:0000708)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: NDN
Phenotype: Infertility (HP:0000789)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Infertility (HP:0000789)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Infertility (HP:0000789)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Precocious puberty (HP:0000826)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Delayed puberty (HP:0000823)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: NDN
Phenotype: Osteoporosis (HP:0000939)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Osteopenia (HP:0000938)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Osteopenia (HP:0000938)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Osteopenia (HP:0000938)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: NDN
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: NDN
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Central apnea (HP:0002871)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Central apnea (HP:0002871)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Central apnea (HP:0002871)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Failure to thrive (HP:0001508)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Small for gestational age (HP:0001518)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Obesity (HP:0001513)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Obesity (HP:0001513)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Obesity (HP:0001513)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Obesity (HP:0001513)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: NDN
Phenotype: Decreased circulating T4 concentration (HP:0031507)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Decreased circulating T4 concentration (HP:0031507)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Decreased circulating T4 concentration (HP:0031507)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Abnormal ulnar metaphysis morphology (HP:0004039)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: NDN
Phenotype: Strabismus (HP:0000486)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Strabismus (HP:0000486)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Strabismus (HP:0000486)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Short foot (HP:0001773)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Short foot (HP:0001773)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Short foot (HP:0001773)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: NDN
Phenotype: Short foot (HP:0001773)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Premature pubarche (HP:0012411)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Premature pubarche (HP:0012411)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Premature pubarche (HP:0012411)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Premature adrenarche (HP:0012412)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Premature adrenarche (HP:0012412)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Premature adrenarche (HP:0012412)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Decreased circulating gonadotropin concentration (HP:0030339)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Decreased circulating gonadotropin concentration (HP:0030339)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Decreased circulating gonadotropin concentration (HP:0030339)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDP
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NDP
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: NDP
Phenotype: Retinal arteriolar tortuosity (HP:0001136)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: NDP
Phenotype: Macular hypoplasia (HP:0001104)
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 macular morphology (HP:0001103)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: NDP
Phenotype: Abnormal macular morphology (HP:0001103)
Associated disease: Coats disease; Leber miliary aneurysm; Congenital retinal telangiectasia (ORPHA:190)
Gene: NDP
Phenotype: Epiphora (HP:0009926)
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: Persistent pupillary membrane (HP:0009917)
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: Hypertonia (HP:0001276)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Motor delay (HP:0001270)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: NDP
Phenotype: Vitreous floaters (HP:0100832)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: NDP
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: NDP
Phenotype: Seizure (HP:0001250)
Associated disease: NORRIE DISEASE (OMIM:310600)
Gene: NDP
Phenotype: Seizure (HP:0001250)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Hypotonia (HP:0001252)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NDP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NDP
Phenotype: Scoliosis (HP:0002650)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Falciform retinal fold (HP:0001493)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: NDP
Phenotype: Falciform retinal fold (HP:0001493)
Associated disease: EXUDATIVE VITREORETINOPATHY 2, X-LINKED (OMIM:305390)
Gene: NDP
Phenotype: Peripheral retinal avascularization (HP:0007685)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: NDP
Phenotype: Peripheral retinal avascularization (HP:0007685)
Associated disease: EXUDATIVE VITREORETINOPATHY 2, X-LINKED (OMIM:305390)
Gene: NDP
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NDP
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: NORRIE DISEASE (OMIM:310600)
Gene: NDP
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NDP
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: NDP
Phenotype: Reduced visual acuity (HP:0007663)
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: Reduced visual acuity (HP:0007663)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: NDP
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: EXUDATIVE VITREORETINOPATHY 2, X-LINKED (OMIM:305390)
Gene: NDP
Phenotype: Retinopathy of prematurity (HP:0500049)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: NDP
Phenotype: Angle closure glaucoma (HP:0012109)
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: X-linked recessive inheritance (HP:0001419)
Associated disease: NORRIE DISEASE (OMIM:310600)
Gene: NDP
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: EXUDATIVE VITREORETINOPATHY 2, X-LINKED (OMIM:305390)
Gene: NDP
Phenotype: Migraine (HP:0002076)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Clonus (HP:0002169)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Hemorrhage of the eye (HP:0011885)
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: Infantile onset (HP:0003593)
Associated disease: EXUDATIVE VITREORETINOPATHY 2, X-LINKED (OMIM:305390)
Gene: NDP
Phenotype: Infantile onset (HP:0003593)
Associated disease: NORRIE DISEASE (OMIM:310600)
Gene: NDP
Phenotype: Uterine rupture (HP:0100718)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Vascular neoplasm (HP:0100742)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Abnormal diencephalon morphology (HP:0010662)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Developmental regression (HP:0002376)
Associated disease: Episkopi blindness; Norrie disease; Atrophia bulborum hereditaria; Norrie-Warburg disease (ORPHA:649)
Gene: NDP
Phenotype: Lymphedema (HP:0001004)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)