TaoMedAI/RareMedData huggingface dataset:
Gene: OCA2
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: OCA2
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Shortened sleep phase (HP:0033063)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Osteopenia (HP:0000938)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Osteopenia (HP:0000938)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Osteopenia (HP:0000938)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Mild microcephaly (HP:0040196)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: OCA2
Phenotype: Optic nerve misrouting (HP:0025551)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: OCA2
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE II (OMIM:203200)
Gene: OCA2
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: OCA2
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: OCA2
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
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: OCA2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
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: OCA2
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Central apnea (HP:0002871)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Central apnea (HP:0002871)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Central apnea (HP:0002871)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
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: OCA2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
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: OCA2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Obesity (HP:0001513)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Obesity (HP:0001513)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Obesity (HP:0001513)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Obesity (HP:0001513)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Decreased circulating T4 concentration (HP:0031507)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Decreased circulating T4 concentration (HP:0031507)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
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: OCA2
Phenotype: Hypopigmentation of the fundus (HP:0007894)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE II (OMIM:203200)
Gene: OCA2
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
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: OCA2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Macular hypopigmentation (HP:0007988)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: OCA2
Phenotype: Strabismus (HP:0000486)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Strabismus (HP:0000486)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Strabismus (HP:0000486)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Strabismus (HP:0000486)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Strabismus (HP:0000486)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE II (OMIM:203200)
Gene: OCA2
Phenotype: Delayed myelination (HP:0012448)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Short foot (HP:0001773)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Short foot (HP:0001773)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Short foot (HP:0001773)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Premature pubarche (HP:0012411)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Premature pubarche (HP:0012411)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Premature pubarche (HP:0012411)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Premature adrenarche (HP:0012412)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Premature adrenarche (HP:0012412)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Premature adrenarche (HP:0012412)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Squamous cell carcinoma of the skin (HP:0006739)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: OCA2
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Flat occiput (HP:0005469)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Visual impairment (HP:0000505)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE II (OMIM:203200)
Gene: OCA2
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Decreased circulating gonadotropin concentration (HP:0030339)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Decreased circulating gonadotropin concentration (HP:0030339)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
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: OCA2
Phenotype: Exotropia (HP:0000577)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE II (OMIM:203200)
Gene: OCA2
Phenotype: EEG with abnormally slow frequencies (HP:0011203)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Abnormality of refraction (HP:0000539)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: OCA2
Phenotype: Myopia (HP:0000545)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE II (OMIM:203200)
Gene: OCRL
Phenotype: Finger swelling (HP:0025131)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Reduced Inositol polyphosphate 5-phosphatase OCRL-1 activity in cultured fibroblasts (HP:6000615)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Glomerulopathy (HP:0100820)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Cheilitis (HP:0100825)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Areflexia (HP:0001284)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Areflexia (HP:0001284)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Benign neoplasm of the central nervous system (HP:0100835)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Seizure (HP:0001250)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Seizure (HP:0001250)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Hypotonia (HP:0001252)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Wrist swelling (HP:0001225)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Abnormal renal tubule morphology (HP:0000091)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Proteinuria (HP:0000093)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Arthritis (HP:0001369)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Joint swelling (HP:0001386)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Azoospermia (HP:0000027)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Generalized hypopigmentation (HP:0007513)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Scoliosis (HP:0002650)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Scoliosis (HP:0002650)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Narrow palate (HP:0000189)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Open mouth (HP:0000194)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: DENT DISEASE 2 (OMIM:300555)
Gene: OCRL
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: DENT DISEASE 2 (OMIM:300555)
Gene: OCRL
Phenotype: Proximal tubulopathy (HP:0000114)
Associated disease: DENT DISEASE 2 (OMIM:300555)
Gene: OCRL
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: DENT DISEASE 2 (OMIM:300555)
Gene: OCRL
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Rickets (HP:0002748)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Osteomalacia (HP:0002749)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Osteomalacia (HP:0002749)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: DENT DISEASE 2 (OMIM:300555)
Gene: OCRL
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)