TaoMedAI/RareMedData huggingface dataset:
Gene: MPV17
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Postural instability (HP:0002172)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Muscle flaccidity (HP:0010547)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Congenital onset (HP:0003577)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Brittle hair (HP:0002299)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Pain insensitivity (HP:0007021)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Fasciculations (HP:0002380)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE (OMIM:618400)
Gene: MPV17
Phenotype: Multiple mitochondrial DNA deletions (HP:0003689)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Developmental regression (HP:0002376)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Progressive (HP:0003676)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE (OMIM:618400)
Gene: MPV17
Phenotype: Progressive (HP:0003676)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Memory impairment (HP:0002354)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Lacticaciduria (HP:0003648)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Unsteady gait (HP:0002317)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Incoordination (HP:0002311)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE (OMIM:618400)
Gene: MPV17
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Impaired distal proprioception (HP:0006858)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Decreased Achilles reflex (HP:0009072)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Progressive proximal muscle weakness (HP:0009073)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Nystagmus (HP:0000639)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Dehydration (HP:0001944)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE (OMIM:618400)
Gene: MPV17
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Weakness of the intrinsic hand muscles (HP:0009005)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Recurrent hypoglycemia (HP:0001988)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Short stature (HP:0004322)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Diffuse leukoencephalopathy (HP:0006994)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Impaired distal tactile sensation (HP:0006937)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE (OMIM:618400)
Gene: MPV17
Phenotype: Impaired distal tactile sensation (HP:0006937)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Depression (HP:0000716)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Depletion of mitochondrial DNA in muscle tissue (HP:0009141)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Childhood onset (HP:0011463)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Young adult onset (HP:0011462)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Hypertyrosinemia (HP:0003231)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Impaired executive functioning (HP:0033051)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Claw toe deformity (HP:0034397)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Abdominal distention (HP:0003270)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Abnormality of the coagulation cascade (HP:0003256)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Reduced circulating growth hormone concentration (HP:0034323)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Jaundice (HP:0000952)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Scaling skin (HP:0040189)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Mitochondrial depletion (HP:0030059)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Microcephaly (HP:0000252)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Elevated lactate:pyruvate ratio (HP:0032653)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Increased serum bile acid concentration (HP:0012202)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Ascites (HP:0001541)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Ankle weakness (HP:0031374)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Growth delay (HP:0001510)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Appendicular hypotonia (HP:0012389)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Depletion of mitochondrial DNA in liver (HP:0006581)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Reye syndrome-like episodes (HP:0006582)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Acute hepatic failure (HP:0006554)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Weak cry (HP:0001612)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE (OMIM:618400)
Gene: MPV17
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Bradycardia (HP:0001662)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Pancreatitis (HP:0001733)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Pes planus (HP:0001763)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Hammertoe (HP:0001765)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE (OMIM:618400)
Gene: MPV17
Phenotype: Hammertoe (HP:0001765)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Splenomegaly (HP:0001744)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE (OMIM:618400)
Gene: MPV17
Phenotype: Pes cavus (HP:0001761)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Ptosis (HP:0000508)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Global proximal tubulopathy (HP:0012573)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Corneal scarring (HP:0000559)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPV17
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Gene: MPZ
Phenotype: Ulnar claw (HP:0001178)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B (OMIM:118200)
Gene: MPZ
Phenotype: Ulnar claw (HP:0001178)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Split hand (HP:0001171)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B (OMIM:118200)
Gene: MPZ
Phenotype: Split hand (HP:0001171)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: MPZ
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: MPZ
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B (OMIM:118200)
Gene: MPZ
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I (OMIM:607677)
Gene: MPZ
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D (OMIM:607791)
Gene: MPZ
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J (OMIM:607736)
Gene: MPZ
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: MPZ
Phenotype: Sensory ataxia (HP:0010871)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 (OMIM:618184)
Gene: MPZ
Phenotype: Sensory ataxia (HP:0010871)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Poor head control (HP:0002421)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 (OMIM:618184)
Gene: MPZ
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: CMT1B; Charcot-Marie-Tooth disease type 1B (ORPHA:101082)
Gene: MPZ
Phenotype: Motor delay (HP:0001270)
Associated disease: CMT1B; Charcot-Marie-Tooth disease type 1B (ORPHA:101082)
Gene: MPZ
Phenotype: Motor delay (HP:0001270)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: MPZ
Phenotype: Motor delay (HP:0001270)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 (OMIM:618184)
Gene: MPZ
Phenotype: Motor delay (HP:0001270)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: MPZ
Phenotype: Areflexia (HP:0001284)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 (OMIM:618184)
Gene: MPZ
Phenotype: Areflexia (HP:0001284)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: MPZ
Phenotype: Areflexia (HP:0001284)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: MPZ
Phenotype: Areflexia (HP:0001284)
Associated disease: CMT1B; Charcot-Marie-Tooth disease type 1B (ORPHA:101082)
Gene: MPZ
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B (OMIM:118200)
Gene: MPZ
Phenotype: Areflexia (HP:0001284)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I (OMIM:607677)
Gene: MPZ
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D (OMIM:607791)
Gene: MPZ
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J (OMIM:607736)
Gene: MPZ
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 (OMIM:618184)
Gene: MPZ
Phenotype: Hypotonia (HP:0001252)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 (OMIM:618184)
Gene: MPZ
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: MPZ
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B (OMIM:118200)
Gene: MPZ
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I (OMIM:607677)
Gene: MPZ
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D (OMIM:607791)
Gene: MPZ
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J (OMIM:607736)
Gene: MPZ
Phenotype: Upper limb postural tremor (HP:0007351)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: MPZ
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: MPZ
Phenotype: Inability to walk (HP:0002540)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 (OMIM:618184)
Gene: MPZ
Phenotype: Tonic pupil (HP:0012074)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B (OMIM:118200)
Gene: MPZ
Phenotype: Delayed ability to stand (HP:0025335)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 (OMIM:618184)
Gene: MPZ
Phenotype: Facial diplegia (HP:0001349)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 (OMIM:618184)
Gene: MPZ
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CMT1B; Charcot-Marie-Tooth disease type 1B (ORPHA:101082)
Gene: MPZ
Phenotype: Muscle weakness (HP:0001324)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 (OMIM:618184)
Gene: MPZ
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: MPZ
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I (OMIM:607677)
Gene: MPZ
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 (OMIM:618184)