TaoMedAI/RareMedData huggingface dataset:
Gene: UQCRC1
Phenotype: Middle age onset (HP:0003596)
Associated disease: PARKINSONISM WITH POLYNEUROPATHY (OMIM:619279)
Gene: UQCRC1
Phenotype: Late onset (HP:0003584)
Associated disease: PARKINSONISM WITH POLYNEUROPATHY (OMIM:619279)
Gene: UQCRC1
Phenotype: Decreased compound muscle action potential amplitude (HP:0033383)
Associated disease: PARKINSONISM WITH POLYNEUROPATHY (OMIM:619279)
Gene: UQCRC1
Phenotype: Decreased amplitude of sensory action potentials (HP:0007078)
Associated disease: PARKINSONISM WITH POLYNEUROPATHY (OMIM:619279)
Gene: UQCRC1
Phenotype: Resting tremor (HP:0002322)
Associated disease: PARKINSONISM WITH POLYNEUROPATHY (OMIM:619279)
Gene: UQCRC1
Phenotype: Anxiety (HP:0000739)
Associated disease: PARKINSONISM WITH POLYNEUROPATHY (OMIM:619279)
Gene: UQCRC1
Phenotype: Depression (HP:0000716)
Associated disease: PARKINSONISM WITH POLYNEUROPATHY (OMIM:619279)
Gene: UQCRC2
Phenotype: Elevated circulating fumarate concentration (HP:0033504)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 (OMIM:615160)
Gene: UQCRC2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 (OMIM:615160)
Gene: UQCRC2
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 (OMIM:615160)
Gene: UQCRC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 (OMIM:615160)
Gene: UQCRC2
Phenotype: Decreased liver function (HP:0001410)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 (OMIM:615160)
Gene: UQCRC2
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 (OMIM:615160)
Gene: UQCRC2
Phenotype: Poor suck (HP:0002033)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 (OMIM:615160)
Gene: UQCRC2
Phenotype: Elevated circulating suberic acid concentration (HP:0033177)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 (OMIM:615160)
Gene: UQCRC2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 (OMIM:615160)
Gene: UQCRC2
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 (OMIM:615160)
Gene: UQCRC2
Phenotype: Elevated circulating sebacic acid concentration (HP:0033325)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 (OMIM:615160)
Gene: UQCRC2
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 (OMIM:615160)
Gene: UQCRC2
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 (OMIM:615160)
Gene: UQCRC2
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 (OMIM:615160)
Gene: UQCRC2
Phenotype: Microcephaly (HP:0000252)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 (OMIM:615160)
Gene: UQCRC2
Phenotype: Episodic tachypnea (HP:0002876)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 (OMIM:615160)
Gene: UQCRC2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 (OMIM:615160)
Gene: UQCRC2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 (OMIM:615160)
Gene: UQCRC2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 (OMIM:615160)
Gene: UQCRFS1
Phenotype: Motor delay (HP:0001270)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618775)
Gene: UQCRFS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618775)
Gene: UQCRFS1
Phenotype: Alopecia totalis (HP:0007418)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618775)
Gene: UQCRFS1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618775)
Gene: UQCRFS1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618775)
Gene: UQCRFS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618775)
Gene: UQCRFS1
Phenotype: Hypothermia (HP:0002045)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618775)
Gene: UQCRFS1
Phenotype: Persistent fetal circulation (HP:0011726)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618775)
Gene: UQCRFS1
Phenotype: Stress/infection-induced lactic acidosis (HP:0004897)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618775)
Gene: UQCRFS1
Phenotype: Papilledema (HP:0001085)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618775)
Gene: UQCRFS1
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618775)
Gene: UQCRFS1
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618775)
Gene: UQCRFS1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618775)
Gene: UQCRFS1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618775)
Gene: UQCRFS1
Phenotype: Hyperventilation (HP:0002883)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618775)
Gene: UQCRFS1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618775)
Gene: UQCRFS1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618775)
Gene: UQCRFS1
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618775)
Gene: UQCRFS1
Phenotype: Bradycardia (HP:0001662)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618775)
Gene: UQCRFS1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618775)
Gene: UQCRFS1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618775)
Gene: UQCRFS1
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618775)
Gene: UQCRFS1
Phenotype: Normochromic anemia (HP:0001895)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618775)
Gene: UQCRFS1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618775)
Gene: UQCRH
Phenotype: Microtia (HP:0008551)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 11 (OMIM:620137)
Gene: UQCRH
Phenotype: Confusion (HP:0001289)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 11 (OMIM:620137)
Gene: UQCRH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 11 (OMIM:620137)
Gene: UQCRH
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 11 (OMIM:620137)
Gene: UQCRH
Phenotype: Abdominal pain (HP:0002027)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 11 (OMIM:620137)
Gene: UQCRH
Phenotype: Diarrhea (HP:0002014)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 11 (OMIM:620137)
Gene: UQCRH
Phenotype: Vomiting (HP:0002013)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 11 (OMIM:620137)
Gene: UQCRH
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 11 (OMIM:620137)
Gene: UQCRH
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 11 (OMIM:620137)
Gene: UQCRH
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 11 (OMIM:620137)
Gene: UQCRH
Phenotype: Fever (HP:0001945)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 11 (OMIM:620137)
Gene: UQCRH
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 11 (OMIM:620137)
Gene: UQCRH
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 11 (OMIM:620137)
Gene: UQCRH
Phenotype: Childhood onset (HP:0011463)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 11 (OMIM:620137)
Gene: UQCRH
Phenotype: Pancreatitis (HP:0001733)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 11 (OMIM:620137)
Gene: UROD
Phenotype: Cirrhosis (HP:0001394)
Associated disease: PORPHYRIA CUTANEA TARDA (OMIM:176100)
Gene: UROD
Phenotype: Severe photosensitivity (HP:0007537)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PORPHYRIA CUTANEA TARDA (OMIM:176100)
Gene: UROD
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PORPHYRIA CUTANEA TARDA (OMIM:176100)
Gene: UROD
Phenotype: Erythroid hyperplasia (HP:0012132)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Osteolysis (HP:0002797)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Seborrhoeic blepharitis (HP:0500046)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: PORPHYRIA CUTANEA TARDA (OMIM:176100)
Gene: UROD
Phenotype: Red urine (HP:0040318)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Purple urine (HP:0040322)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Red-brown urine (HP:0040320)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Scleritis (HP:0100532)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Porphyrinuria (HP:0010473)
Associated disease: PORPHYRIA CUTANEA TARDA (OMIM:176100)
Gene: UROD
Phenotype: Abnormal circulating porphyrin concentration (HP:0010472)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Paresthesia (HP:0003401)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Facial hypertrichosis (HP:0002219)
Associated disease: PORPHYRIA CUTANEA TARDA (OMIM:176100)
Gene: UROD
Phenotype: Facial hypertrichosis (HP:0002219)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Fragile skin (HP:0001030)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Fragile skin (HP:0001030)
Associated disease: PORPHYRIA CUTANEA TARDA (OMIM:176100)
Gene: UROD
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Keratoconjunctivitis (HP:0001096)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Thickened skin (HP:0001072)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Skin erosion (HP:0200041)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Scarring (HP:0100699)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Reduced uroporphyrinogen decarboxylase activity (HP:0034715)
Associated disease: PORPHYRIA CUTANEA TARDA (OMIM:176100)
Gene: UROD
Phenotype: Hyperpigmentation in sun-exposed areas (HP:0005586)
Associated disease: PORPHYRIA CUTANEA TARDA (OMIM:176100)
Gene: UROD
Phenotype: Blindness (HP:0000618)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Ectropion (HP:0000656)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Loss of eyelashes (HP:0011457)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Erythrodontia (HP:0030756)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Scleroderma (HP:0100324)
Associated disease: PORPHYRIA CUTANEA TARDA (OMIM:176100)
Gene: UROD
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Scarring alopecia of scalp (HP:0004552)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: PORPHYRIA CUTANEA TARDA (OMIM:176100)
Gene: UROD
Phenotype: Pruritus (HP:0000989)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Edema (HP:0000969)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Osteoporosis (HP:0000939)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Osteopenia (HP:0000938)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Alopecia (HP:0001596)
Associated disease: PORPHYRIA CUTANEA TARDA (OMIM:176100)
Gene: UROD
Phenotype: Abnormality of the amniotic fluid (HP:0001560)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Recurrent bacterial skin infections (HP:0005406)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Onycholysis (HP:0001806)
Associated disease: PORPHYRIA CUTANEA TARDA (OMIM:176100)
Gene: UROD
Phenotype: Increased fecal porphyrin (HP:0032999)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROD
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: HEP; Hepatoerythropoietic porphyria (ORPHA:95159)
Gene: UROS
Phenotype: Reduced erythrocyte uroporphyrinogen III cosynthase activity (HP:6000514)
Associated disease: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (OMIM:263700)
Gene: UROS
Phenotype: Elevated circulating uroporphyrin concentration (HP:0034905)
Associated disease: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (OMIM:263700)
Gene: UROS
Phenotype: Increased stool urobilinogen concentration (HP:0500115)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Severe photosensitivity (HP:0007537)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (OMIM:263700)
Gene: UROS
Phenotype: Increased erythrocyte protoporphyrin concentration (HP:0012187)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Erythroid hyperplasia (HP:0012132)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Osteolysis (HP:0002797)
Associated disease: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (OMIM:263700)
Gene: UROS
Phenotype: Osteolysis (HP:0002797)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Seborrhoeic blepharitis (HP:0500046)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (OMIM:263700)
Gene: UROS
Phenotype: Red urine (HP:0040318)
Associated disease: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (OMIM:263700)
Gene: UROS
Phenotype: Purple urine (HP:0040322)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Red-brown urine (HP:0040320)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Scleritis (HP:0100532)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Decreased circulating vitamin D concentration (HP:0100512)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Porphyrinuria (HP:0010473)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Abnormal circulating porphyrin concentration (HP:0010472)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (OMIM:263700)
Gene: UROS
Phenotype: Paresthesia (HP:0003401)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Unconjugated hyperbilirubinemia (HP:0008282)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Congenital onset (HP:0003577)
Associated disease: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (OMIM:263700)
Gene: UROS
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (OMIM:263700)
Gene: UROS
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (OMIM:263700)
Gene: UROS
Phenotype: Facial hypertrichosis (HP:0002219)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Pink urine (HP:0032001)
Associated disease: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (OMIM:263700)
Gene: UROS
Phenotype: Fragile skin (HP:0001030)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (OMIM:263700)
Gene: UROS
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Keratoconjunctivitis (HP:0001096)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Thickened skin (HP:0001072)
Associated disease: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (OMIM:263700)
Gene: UROS
Phenotype: Thickened skin (HP:0001072)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Skin erosion (HP:0200041)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (OMIM:263700)
Gene: UROS
Phenotype: Scarring (HP:0100699)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Reduced haptoglobin level (HP:0020181)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Blindness (HP:0000618)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Increased connective tissue (HP:0009025)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Ectropion (HP:0000656)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Short stature (HP:0004322)
Associated disease: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (OMIM:263700)
Gene: UROS
Phenotype: Loss of eyelashes (HP:0011457)
Associated disease: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (OMIM:263700)
Gene: UROS
Phenotype: Loss of eyelashes (HP:0011457)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Poikilocytosis (HP:0004447)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Erythrodontia (HP:0030756)
Associated disease: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (OMIM:263700)
Gene: UROS
Phenotype: Erythrodontia (HP:0030756)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Scleroderma (HP:0100324)
Associated disease: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (OMIM:263700)
Gene: UROS
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Scarring alopecia of scalp (HP:0004552)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (OMIM:263700)
Gene: UROS
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (OMIM:263700)
Gene: UROS
Phenotype: Atypical scarring of skin (HP:0000987)
Associated disease: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (OMIM:263700)
Gene: UROS
Phenotype: Pruritus (HP:0000989)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Increased fecal coproporphyrin 1 (HP:0033009)
Associated disease: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (OMIM:263700)
Gene: UROS
Phenotype: Increased fecal coproporphyrin 1 (HP:0033009)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (OMIM:263700)
Gene: UROS
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Jaundice (HP:0000952)
Associated disease: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (OMIM:263700)
Gene: UROS
Phenotype: Edema (HP:0000969)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Osteoporosis (HP:0000939)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Osteopenia (HP:0000938)
Associated disease: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (OMIM:263700)
Gene: UROS
Phenotype: Osteopenia (HP:0000938)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)