TaoMedAI/RareMedData huggingface dataset:
Gene: OCRL
Phenotype: Aminoaciduria (HP:0003355)
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: Malabsorption (HP:0002024)
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: Gastroesophageal reflux (HP:0002020)
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: Constipation (HP:0002019)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Constipation (HP:0002019)
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: Deep philtrum (HP:0002002)
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: Frontal bossing (HP:0002007)
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: Elevated amniotic fluid alpha-fetoprotein (HP:0004639)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Abnormal circulating calcium-phosphate regulating hormone concentration (HP:0100530)
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: Cognitive impairment (HP:0100543)
Associated disease: DENT DISEASE 2 (OMIM:300555)
Gene: OCRL
Phenotype: Respiratory insufficiency (HP:0002093)
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: Decreased circulating vitamin D concentration (HP:0100512)
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: Proximal renal tubular acidosis (HP:0002049)
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: Proximal renal tubular acidosis (HP:0002049)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Urogenital fistula (HP:0100589)
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 epiphysis morphology (HP:0005930)
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: Oligosacchariduria (HP:0010471)
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 contracture of the hand (HP:0009473)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Increased circulating lactate concentration (HP:0002151)
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: Hypercalciuria (HP:0002150)
Associated disease: DENT DISEASE 2 (OMIM:300555)
Gene: OCRL
Phenotype: Hypercalciuria (HP:0002150)
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: Hypophosphatemia (HP:0002148)
Associated disease: DENT DISEASE 2 (OMIM:300555)
Gene: OCRL
Phenotype: Hypophosphatemia (HP:0002148)
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: Ventriculomegaly (HP:0002119)
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: Ventriculomegaly (HP:0002119)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Clonus (HP:0002169)
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: Camptodactyly of finger (HP:0100490)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Hypoammonemia (HP:0100493)
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: Keloids (HP:0010562)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Congenital onset (HP:0003577)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Self-injurious behavior (HP:0100716)
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: Fine hair (HP:0002213)
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: Sparse scalp hair (HP:0002209)
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: Recurrent respiratory infections (HP:0002205)
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: Atelectasis (HP:0100750)
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: Attention deficit hyperactivity disorder (HP:0007018)
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: Aphasia (HP:0002381)
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: EEG abnormality (HP:0002353)
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: Bicarbonaturia (HP:0003646)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Open bite (HP:0010807)
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: Tooth agenesis (HP:0009804)
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: Odontogenic neoplasm (HP:0100612)
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: Skin ulcer (HP:0200042)
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: Periventricular cysts (HP:0007109)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Multiple renal cysts (HP:0005562)
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: Chronic kidney disease (HP:0012622)
Associated disease: DENT DISEASE 2 (OMIM:300555)
Gene: OCRL
Phenotype: Nystagmus (HP:0000639)
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: Lacrimation abnormality (HP:0000632)
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: Amblyopia (HP:0000646)
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: Dehydration (HP:0001944)
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 pupil morphology (HP:0000615)
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: Anemia (HP:0001903)
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 dental enamel morphology (HP:0000682)
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: Delayed eruption of teeth (HP:0000684)
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: Mild global developmental delay (HP:0011342)
Associated disease: DENT DISEASE 2 (OMIM:300555)
Gene: OCRL
Phenotype: Taurodontia (HP:0000679)
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: Dental crowding (HP:0000678)
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: Carious teeth (HP:0000670)
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: Renal Fanconi syndrome (HP:0001994)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Short stature (HP:0004322)
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: Short stature (HP:0004322)
Associated disease: DENT DISEASE 2 (OMIM:300555)
Gene: OCRL
Phenotype: Short stature (HP:0004322)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: DENT DISEASE 2 (OMIM:300555)
Gene: OCRL
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: DENT DISEASE 2 (OMIM:300555)
Gene: OCRL
Phenotype: Abnormal rib morphology (HP:0000772)
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: Anxiety (HP:0000739)
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: Motor stereotypy (HP:0000733)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Motor stereotypy (HP:0000733)
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: Depression (HP:0000716)
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: Aggressive behavior (HP:0000718)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Compulsive behaviors (HP:0000722)
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: Periodontitis (HP:0000704)
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: Childhood onset (HP:0011463)
Associated disease: DENT DISEASE 2 (OMIM:300555)
Gene: OCRL
Phenotype: Elevated maternal circulating alpha-fetoprotein concentration (HP:0011432)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Hematuria (HP:0000790)
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: Nephrolithiasis (HP:0000787)
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: Hyperphosphaturia (HP:0003109)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Low-molecular-weight proteinuria (HP:0003126)
Associated disease: DENT DISEASE 2 (OMIM:300555)
Gene: OCRL
Phenotype: Low-molecular-weight proteinuria (HP:0003126)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Hypercholesterolemia (HP:0003124)
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: Platyspondyly (HP:0000926)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Platyspondyly (HP:0000926)
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: Elevated serum acid phosphatase (HP:0003148)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Diabetes insipidus (HP:0000873)
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: Lentiglobus (HP:0011527)
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 aldosterone concentration (HP:0000859)
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: Hyperparathyroidism (HP:0000843)
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: Delayed puberty (HP:0000823)
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: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: DENT DISEASE 2 (OMIM:300555)
Gene: OCRL
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Atypical scarring of skin (HP:0000987)
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 metaphysis morphology (HP:0000944)
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: Neoplasm of the skin (HP:0008069)
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: Full cheeks (HP:0000293)
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)