TaoMedAI/RareMedData huggingface dataset:
Gene: COX10
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619046)
Gene: COX10
Phenotype: Increased hepatocellular lipid droplets (HP:0006565)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619046)
Gene: COX10
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Persistent head lag (HP:0032988)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619046)
Gene: COX10
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619046)
Gene: COX10
Phenotype: Splenomegaly (HP:0001744)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619046)
Gene: COX10
Phenotype: Ptosis (HP:0000508)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Ptosis (HP:0000508)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619046)
Gene: COX10
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX11
Phenotype: Fetal distress (HP:0025116)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 (OMIM:620275)
Gene: COX11
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 (OMIM:620275)
Gene: COX11
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 (OMIM:620275)
Gene: COX11
Phenotype: Clonic seizure (HP:0020221)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 (OMIM:620275)
Gene: COX11
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 (OMIM:620275)
Gene: COX11
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 (OMIM:620275)
Gene: COX11
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 (OMIM:620275)
Gene: COX11
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 (OMIM:620275)
Gene: COX11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 (OMIM:620275)
Gene: COX11
Phenotype: Hypoventilation (HP:0002791)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 (OMIM:620275)
Gene: COX11
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 (OMIM:620275)
Gene: COX11
Phenotype: Rigidity (HP:0002063)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 (OMIM:620275)
Gene: COX11
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 (OMIM:620275)
Gene: COX11
Phenotype: Percussion myotonia (HP:0010548)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 (OMIM:620275)
Gene: COX11
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 (OMIM:620275)
Gene: COX11
Phenotype: Knee contracture (HP:0034671)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 (OMIM:620275)
Gene: COX11
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 (OMIM:620275)
Gene: COX11
Phenotype: Dyskinesia (HP:0100660)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 (OMIM:620275)
Gene: COX11
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 (OMIM:620275)
Gene: COX11
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 (OMIM:620275)
Gene: COX11
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 (OMIM:620275)
Gene: COX11
Phenotype: Elbow contracture (HP:0034391)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 (OMIM:620275)
Gene: COX11
Phenotype: Abdominal distention (HP:0003270)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 (OMIM:620275)
Gene: COX11
Phenotype: Microcephaly (HP:0000252)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 (OMIM:620275)
Gene: COX11
Phenotype: Death in infancy (HP:0001522)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 (OMIM:620275)
Gene: COX11
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 (OMIM:620275)
Gene: COX11
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 (OMIM:620275)
Gene: COX11
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 (OMIM:620275)
Gene: COX11
Phenotype: Brain atrophy (HP:0012444)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 (OMIM:620275)
Gene: COX11
Phenotype: Visual impairment (HP:0000505)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 (OMIM:620275)
Gene: COX15
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615119)
Gene: COX15
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Motor delay (HP:0001270)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615119)
Gene: COX15
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Ataxia (HP:0001251)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Death in childhood (HP:0003819)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Proteinuria (HP:0000093)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615119)
Gene: COX15
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615119)
Gene: COX15
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Renal tubular dysfunction (HP:0000124)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Mitochondrial inheritance (HP:0001427)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Decreased liver function (HP:0001410)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615119)
Gene: COX15
Phenotype: Respiratory distress (HP:0002098)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615119)
Gene: COX15
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Gliosis (HP:0002171)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615119)
Gene: COX15
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615119)
Gene: COX15
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615119)
Gene: COX15
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Developmental regression (HP:0002376)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Bloody diarrhea (HP:0025085)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615119)
Gene: COX15
Phenotype: Bilateral basal ganglia lesions (HP:0007146)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615119)
Gene: COX15
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615119)
Gene: COX15
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Anemia (HP:0001903)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Renal Fanconi syndrome (HP:0001994)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615119)
Gene: COX15
Phenotype: Glycosuria (HP:0003076)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Hyperphosphaturia (HP:0003109)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615119)
Gene: COX15
Phenotype: Motor regression (HP:0033044)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615119)
Gene: COX15
Phenotype: Increased intramyocellular lipid droplets (HP:0012240)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Microcephaly (HP:0000252)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615119)
Gene: COX15
Phenotype: Respiratory failure (HP:0002878)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: High palate (HP:0000218)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615119)
Gene: COX15
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Increased hepatocellular lipid droplets (HP:0006565)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615119)
Gene: COX15
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615119)
Gene: COX15
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Retinopathy (HP:0000488)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615119)
Gene: COX15
Phenotype: Ptosis (HP:0000508)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX15
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: CP
Phenotype: Ataxia (HP:0001251)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Ataxia (HP:0001251)
Associated disease: ACERULOPLASMINEMIA (OMIM:604290)
Gene: CP
Phenotype: Dysarthria (HP:0001260)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Dysarthria (HP:0001260)
Associated disease: ACERULOPLASMINEMIA (OMIM:604290)
Gene: CP
Phenotype: Abnormal corpus striatum morphology (HP:0010994)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Abnormal pancreas morphology (HP:0012090)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Dystonia (HP:0001332)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ACERULOPLASMINEMIA (OMIM:604290)
Gene: CP
Phenotype: Tremor (HP:0001337)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Aceruloplasminemia (HP:0025498)
Associated disease: ACERULOPLASMINEMIA (OMIM:604290)
Gene: CP
Phenotype: Aceruloplasminemia (HP:0025498)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Craniofacial dystonia (HP:0012179)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Decreased circulating iron concentration (HP:0040303)
Associated disease: ACERULOPLASMINEMIA (OMIM:604290)
Gene: CP
Phenotype: Decreased circulating iron concentration (HP:0040303)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Rigidity (HP:0002063)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Chorea (HP:0002072)
Associated disease: ACERULOPLASMINEMIA (OMIM:604290)
Gene: CP
Phenotype: Chorea (HP:0002072)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Limb ataxia (HP:0002070)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: ACERULOPLASMINEMIA (OMIM:604290)
Gene: CP
Phenotype: Scanning speech (HP:0002168)
Associated disease: ACERULOPLASMINEMIA (OMIM:604290)
Gene: CP
Phenotype: Adult onset (HP:0003581)
Associated disease: ACERULOPLASMINEMIA (OMIM:604290)
Gene: CP
Phenotype: Decreased circulating copper concentration (HP:0011967)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Hypochromic microcytic anemia (HP:0004840)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Cogwheel rigidity (HP:0002396)
Associated disease: ACERULOPLASMINEMIA (OMIM:604290)
Gene: CP
Phenotype: Memory impairment (HP:0002354)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Decreased circulating ceruloplasmin concentration (HP:0010837)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Akinesia (HP:0002304)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Refractory anemia (HP:0005505)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Nystagmus (HP:0000639)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Blepharospasm (HP:0000643)
Associated disease: ACERULOPLASMINEMIA (OMIM:604290)
Gene: CP
Phenotype: Blepharospasm (HP:0000643)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Macular degeneration (HP:0000608)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Anemia (HP:0001903)
Associated disease: ACERULOPLASMINEMIA (OMIM:604290)
Gene: CP
Phenotype: Abnormal thalamic MRI signal intensity (HP:0012696)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Iron accumulation in brain (HP:0012675)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Apathy (HP:0000741)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Dementia (HP:0000726)
Associated disease: ACERULOPLASMINEMIA (OMIM:604290)
Gene: CP
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Abnormal dentate nucleus morphology (HP:0100321)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: ACERULOPLASMINEMIA (OMIM:604290)
Gene: CP
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: ACERULOPLASMINEMIA (OMIM:604290)
Gene: CP
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Facial grimacing (HP:0000273)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Elevated hepatic iron concentration (HP:0012465)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Torticollis (HP:0000473)
Associated disease: ACERULOPLASMINEMIA (OMIM:604290)
Gene: CP
Phenotype: Torticollis (HP:0000473)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CP
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: ACERULOPLASMINEMIA (OMIM:604290)
Gene: CP
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Gene: CPA1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: CPA1
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: CPA1
Phenotype: Recurrent pancreatitis (HP:0100027)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: CPA1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: CPA1
Phenotype: Jaundice (HP:0000952)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: CPA1
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: CPA1
Phenotype: Pancreatic calcification (HP:0005213)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: CPA1
Phenotype: Splanchnic vein thrombosis (HP:0030247)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: CPA1
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: CPE
Phenotype: Motor delay (HP:0001270)
Associated disease: BDV SYNDROME (OMIM:619326)