TaoMedAI/RareMedData huggingface dataset:
Gene: MTRR
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE (OMIM:236270)
Gene: MTRR
Phenotype: Homocystinuria (HP:0002156)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE (OMIM:236270)
Gene: MTRR
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE (OMIM:236270)
Gene: MTRR
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Hyperhomocystinemia (HP:0002160)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE (OMIM:236270)
Gene: MTRR
Phenotype: Hyperhomocystinemia (HP:0002160)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Infantile onset (HP:0003593)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE (OMIM:236270)
Gene: MTRR
Phenotype: Decreased methionine synthase activity (HP:0003524)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE (OMIM:236270)
Gene: MTRR
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Drowsiness (HP:0002329)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Hypomethioninemia (HP:0003658)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE (OMIM:236270)
Gene: MTRR
Phenotype: Hypomethioninemia (HP:0003658)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Neonatal onset (HP:0003623)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE (OMIM:236270)
Gene: MTRR
Phenotype: Loss of consciousness (HP:0007185)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Hemolytic-uremic syndrome (HP:0005575)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE (OMIM:236270)
Gene: MTRR
Phenotype: Nystagmus (HP:0000639)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE (OMIM:236270)
Gene: MTRR
Phenotype: Nystagmus (HP:0000639)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Megaloblastic bone marrow (HP:0001980)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Macrocytic anemia (HP:0001972)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Blindness (HP:0000618)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE (OMIM:236270)
Gene: MTRR
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: NEURAL TUBE DEFECTS, FOLATE-SENSITIVE (OMIM:601634)
Gene: MTRR
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Widened subarachnoid space (HP:0012704)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Hypertension (HP:0000822)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Decreased circulating methylcobalamin concentration (HP:0003223)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE (OMIM:236270)
Gene: MTRR
Phenotype: Spinal dysraphism (HP:0010301)
Associated disease: NEURAL TUBE DEFECTS, FOLATE-SENSITIVE (OMIM:601634)
Gene: MTRR
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Microcephaly (HP:0000252)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Failure to thrive (HP:0001508)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE (OMIM:236270)
Gene: MTRR
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Methylmalonic acidemia (HP:0002912)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE (OMIM:236270)
Gene: MTRR
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Delayed myelination (HP:0012448)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Visual impairment (HP:0000505)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Megaloblastic anemia (HP:0001889)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE (OMIM:236270)
Gene: MTRR
Phenotype: Normocytic anemia (HP:0001897)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE (OMIM:236270)
Gene: MTRR
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MT-TE
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: Myopathy and diabetes mellitus (ORPHA:2596)
Gene: MT-TE
Phenotype: Pelvic girdle muscle weakness (HP:0003749)
Associated disease: Myopathy and diabetes mellitus (ORPHA:2596)
Gene: MT-TE
Phenotype: Skeletal myopathy (HP:0003756)
Associated disease: Myopathy and diabetes mellitus (ORPHA:2596)
Gene: MT-TE
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: MT-TE
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: MT-TE
Phenotype: Dysarthria (HP:0001260)
Associated disease: Myopathy and diabetes mellitus (ORPHA:2596)
Gene: MT-TE
Phenotype: Inability to walk (HP:0002540)
Associated disease: Myopathy and diabetes mellitus (ORPHA:2596)
Gene: MT-TE
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: MT-TE
Phenotype: Sternocleidomastoid amyotrophy (HP:0012036)
Associated disease: Myopathy and diabetes mellitus (ORPHA:2596)
Gene: MT-TE
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: MT-TE
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Myopathy and diabetes mellitus (ORPHA:2596)
Gene: MT-TE
Phenotype: Macroglossia (HP:0000158)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: MT-TE
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: Myopathy and diabetes mellitus (ORPHA:2596)
Gene: MT-TE
Phenotype: Delirium (HP:0031258)
Associated disease: Myopathy and diabetes mellitus (ORPHA:2596)
Gene: MT-TE
Phenotype: Poor suck (HP:0002033)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: MT-TE
Phenotype: Myalgia (HP:0003326)
Associated disease: Myopathy and diabetes mellitus (ORPHA:2596)
Gene: MT-TE
Phenotype: Ventilator dependence with inability to wean (HP:0005946)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: MT-TE
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Myopathy and diabetes mellitus (ORPHA:2596)
Gene: MT-TE
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: MT-TE
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: Myopathy and diabetes mellitus (ORPHA:2596)
Gene: MT-TE
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: MT-TE
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Myopathy and diabetes mellitus (ORPHA:2596)
Gene: MT-TE
Phenotype: Babinski sign (HP:0003487)
Associated disease: Myopathy and diabetes mellitus (ORPHA:2596)
Gene: MT-TE
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: MT-TE
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: MT-TE
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: MT-TE
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Myopathy and diabetes mellitus (ORPHA:2596)
Gene: MT-TE
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: Myopathy and diabetes mellitus (ORPHA:2596)
Gene: MT-TE
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Myopathy and diabetes mellitus (ORPHA:2596)
Gene: MT-TE
Phenotype: Respiratory failure requiring assisted ventilation (HP:0004887)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: MT-TE
Phenotype: Schizophrenia (HP:0100753)
Associated disease: Myopathy and diabetes mellitus (ORPHA:2596)
Gene: MT-TE
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: Myopathy and diabetes mellitus (ORPHA:2596)
Gene: MT-TE
Phenotype: Frequent falls (HP:0002359)
Associated disease: Myopathy and diabetes mellitus (ORPHA:2596)
Gene: MT-TE
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: MT-TE
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Myopathy and diabetes mellitus (ORPHA:2596)
Gene: MT-TE
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: Myopathy and diabetes mellitus (ORPHA:2596)
Gene: MT-TE
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: Myopathy and diabetes mellitus (ORPHA:2596)
Gene: MT-TE
Phenotype: Severe lactic acidosis (HP:0004900)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: MT-TE
Phenotype: Progressive proximal muscle weakness (HP:0009073)
Associated disease: Myopathy and diabetes mellitus (ORPHA:2596)
Gene: MT-TE
Phenotype: Increased muscle glycogen content (HP:0009051)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: MT-TE
Phenotype: Increased muscle lipid content (HP:0009058)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: MT-TE
Phenotype: Difficulty running (HP:0009046)
Associated disease: Myopathy and diabetes mellitus (ORPHA:2596)
Gene: MT-TE
Phenotype: Dementia (HP:0000726)
Associated disease: Myopathy and diabetes mellitus (ORPHA:2596)
Gene: MT-TE
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: MT-TE
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: MT-TE
Phenotype: Myopathy (HP:0003198)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: MT-TE
Phenotype: Decreased circulating carnitine concentration (HP:0003234)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: MT-TE
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: MT-TE
Phenotype: High palate (HP:0000218)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: MT-TE
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Myopathy and diabetes mellitus (ORPHA:2596)
Gene: MT-TE
Phenotype: Hyporeflexia of upper limbs (HP:0012391)
Associated disease: Myopathy and diabetes mellitus (ORPHA:2596)
Gene: MT-TE
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: MT-TE
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: Myopathy and diabetes mellitus (ORPHA:2596)
Gene: MT-TE
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Myopathy and diabetes mellitus (ORPHA:2596)
Gene: MT-TE
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: Myopathy and diabetes mellitus (ORPHA:2596)