TaoMedAI/RareMedData huggingface dataset:
Gene: MPL
Phenotype: Poikilocytosis (HP:0004447)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Arterial thrombosis (HP:0004420)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: MPL
Phenotype: Arterial thrombosis (HP:0004420)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Arterial thrombosis (HP:0004420)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: MPL
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Congenital amegakaryocytic thrombocytopenia; CAMT (ORPHA:3319)
Gene: MPL
Phenotype: Pallor (HP:0000980)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Pallor (HP:0000980)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: MPL
Phenotype: Purpura (HP:0000979)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: MPL
Phenotype: Purpura (HP:0000979)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: MPL
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: MPL
Phenotype: Pruritus (HP:0000989)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: MPL
Phenotype: Petechiae (HP:0000967)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Congenital amegakaryocytic thrombocytopenia; CAMT (ORPHA:3319)
Gene: MPL
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Megakaryocyte nucleus hyperlobulation (HP:0031388)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: MPL
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: MPL
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: MPL
Phenotype: Ecchymosis (HP:0031364)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Fatigue (HP:0012378)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Fatigue (HP:0012378)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: MPL
Phenotype: Miscarriage (HP:0005268)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: MPL
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Congenital amegakaryocytic thrombocytopenia; CAMT (ORPHA:3319)
Gene: MPL
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: MPL
Phenotype: Flank pain (HP:0030157)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Low-grade fever (HP:0011134)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Hepatic vein thrombosis (HP:0030243)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: MPL
Phenotype: Short neck (HP:0000470)
Associated disease: Congenital amegakaryocytic thrombocytopenia; CAMT (ORPHA:3319)
Gene: MPL
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: MPL
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Splenomegaly (HP:0001744)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: MPL
Phenotype: Splenomegaly (HP:0001744)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: MPL
Phenotype: Weight loss (HP:0001824)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: MPL
Phenotype: Visual impairment (HP:0000505)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: MPL
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: MPL
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: MPL
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: MPL
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: THROMBOCYTHEMIA 2 (OMIM:601977)
Gene: MPL
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: MPL
Phenotype: Abnormality of thrombocytes (HP:0001872)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: MPL
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Congenital amegakaryocytic thrombocytopenia; CAMT (ORPHA:3319)
Gene: MPL
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL (OMIM:604498)
Gene: MPL
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Pancytopenia (HP:0001876)
Associated disease: AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL (OMIM:604498)
Gene: MPO
Phenotype: Diminished neutrophil myeloperoxidase activity (HP:6000513)
Associated disease: MYELOPEROXIDASE DEFICIENCY (OMIM:254600)
Gene: MPO
Phenotype: Long-tract sign (HP:0002423)
Associated disease: ALZHEIMER DISEASE (OMIM:104300)
Gene: MPO
Phenotype: Alzheimer disease (HP:0002511)
Associated disease: ALZHEIMER DISEASE (OMIM:104300)
Gene: MPO
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYELOPEROXIDASE DEFICIENCY (OMIM:254600)
Gene: MPO
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ALZHEIMER DISEASE (OMIM:104300)
Gene: MPO
Phenotype: Parkinsonism (HP:0001300)
Associated disease: ALZHEIMER DISEASE (OMIM:104300)
Gene: MPO
Phenotype: Decreased circulating GABA concentration (HP:0410054)
Associated disease: ALZHEIMER DISEASE (OMIM:104300)
Gene: MPO
Phenotype: Abnormality of the immune system (HP:0002715)
Associated disease: MYELOPEROXIDASE DEFICIENCY (OMIM:254600)
Gene: MPO
Phenotype: Neurofibrillary tangles (HP:0002185)
Associated disease: ALZHEIMER DISEASE (OMIM:104300)
Gene: MPO
Phenotype: Adult onset (HP:0003581)
Associated disease: ALZHEIMER DISEASE (OMIM:104300)
Gene: MPO
Phenotype: Reduced neutrophil myeloperoxidase activity (HP:6000375)
Associated disease: MYELOPEROXIDASE DEFICIENCY (OMIM:254600)
Gene: MPO
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: MYELOPEROXIDASE DEFICIENCY (OMIM:254600)
Gene: MPO
Phenotype: Dementia (HP:0000726)
Associated disease: ALZHEIMER DISEASE (OMIM:104300)
Gene: MPO
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: MYELOPEROXIDASE DEFICIENCY (OMIM:254600)
Gene: MPV17
Phenotype: Ulnar claw (HP:0001178)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE (OMIM:618400)
Gene: MPV17
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE (OMIM:618400)
Gene: MPV17
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE (OMIM:618400)
Gene: MPV17
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Decreased distal sensory nerve action potential (HP:0007230)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE (OMIM:618400)
Gene: MPV17
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Cytoplasmic antineutrophil antibody positivity (HP:0032230)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Motor delay (HP:0001270)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE (OMIM:618400)
Gene: MPV17
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE (OMIM:618400)
Gene: MPV17
Phenotype: Areflexia (HP:0001284)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Ataxia (HP:0001251)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE (OMIM:618400)
Gene: MPV17
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Dysarthria (HP:0001260)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE (OMIM:618400)
Gene: MPV17
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Cholestasis (HP:0001396)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Hepatic failure (HP:0001399)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Cirrhosis (HP:0001394)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Autoamputation of digits (HP:0007460)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Acral ulceration (HP:0006121)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Painless fractures due to injury (HP:0002661)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Dystonia (HP:0001332)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE (OMIM:618400)
Gene: MPV17
Phenotype: Scoliosis (HP:0002650)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Parkinsonism (HP:0001300)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Increased hepatic echogenicity (HP:0031141)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Osteomyelitis leading to amputation due to slow healing fractures (HP:0005010)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Intrinsic hand muscle atrophy (HP:0008954)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Elevated circulating alpha-fetoprotein concentration (HP:0006254)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Reticular hyperpigmentation (HP:0007588)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Proximal tubulopathy (HP:0000114)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Periportal fibrosis (HP:0001405)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Hepatocellular necrosis (HP:0001404)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Intrahepatic cholestasis (HP:0001406)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Macrovesicular hepatic steatosis (HP:0001403)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Microvesicular hepatic steatosis (HP:0001414)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Micronodular cirrhosis (HP:0001413)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Constipation (HP:0002019)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Poor suck (HP:0002033)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Dark urine (HP:0040319)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Myalgia (HP:0003326)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Diarrhea (HP:0002014)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Dysphagia (HP:0002015)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Vomiting (HP:0002013)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Respiratory distress (HP:0002098)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Upper limb asymmetry (HP:0100560)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Steppage gait (HP:0003376)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE (OMIM:618400)
Gene: MPV17
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE (OMIM:618400)
Gene: MPV17
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Gait imbalance (HP:0002141)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Broad-based gait (HP:0002136)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: EMG: chronic denervation signs (HP:0003444)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE (OMIM:618400)
Gene: MPV17
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)