TaoMedAI/RareMedData huggingface dataset:
Gene: ACADVL
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (OMIM:201475)
Gene: ACADVL
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (OMIM:201475)
Gene: ACADVL
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Inflammatory abnormality of the skin (HP:0011123)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Pain (HP:0012531)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACAT1
Phenotype: Extrapyramidal dyskinesia (HP:0007308)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Elevated urinary 2-methyl-3-hydroxybutyric acid level (HP:6000603)
Associated disease: ALPHA-METHYLACETOACETIC ACIDURIA (OMIM:203750)
Gene: ACAT1
Phenotype: Motor delay (HP:0001270)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Seizure (HP:0001250)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Ataxia (HP:0001251)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ALPHA-METHYLACETOACETIC ACIDURIA (OMIM:203750)
Gene: ACAT1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Spasticity (HP:0001257)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Coma (HP:0001259)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ALPHA-METHYLACETOACETIC ACIDURIA (OMIM:203750)
Gene: ACAT1
Phenotype: Hypotension (HP:0002615)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Tachypnea (HP:0002789)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Body odor (HP:0500001)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Diarrhea (HP:0002014)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Vomiting (HP:0002013)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Vomiting (HP:0002013)
Associated disease: ALPHA-METHYLACETOACETIC ACIDURIA (OMIM:203750)
Gene: ACAT1
Phenotype: Episodic ketoacidosis (HP:0005974)
Associated disease: ALPHA-METHYLACETOACETIC ACIDURIA (OMIM:203750)
Gene: ACAT1
Phenotype: Anorexia (HP:0002039)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Dehydration (HP:0001944)
Associated disease: ALPHA-METHYLACETOACETIC ACIDURIA (OMIM:203750)
Gene: ACAT1
Phenotype: Dehydration (HP:0001944)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Fever (HP:0001945)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Acidosis (HP:0001941)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Ketoacidosis (HP:0001993)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Reduced consciousness (HP:0004372)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Cough (HP:0012735)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Apathy (HP:0000741)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Abnormal metabolic brain imaging by MRS (HP:0012705)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Agitation (HP:0000713)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Abnormality of mental function (HP:0011446)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Reduced mitochondrial acetyl-CoA acetyltransferase activity in cultured fibroblasts (HP:4000204)
Associated disease: ALPHA-METHYLACETOACETIC ACIDURIA (OMIM:203750)
Gene: ACAT1
Phenotype: Hypertension (HP:0000822)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Pallor (HP:0000980)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Edema (HP:0000969)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Ketonuria (HP:0002919)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Weight loss (HP:0001824)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT1
Phenotype: Oral aversion (HP:0012523)
Associated disease: 3-ketothiolase deficiency; T2 deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; Beta-ketothiolase deficiency; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria (ORPHA:134)
Gene: ACAT2
Phenotype: Sporadic (HP:0003745)
Associated disease: ACETYL-CoA ACETYLTRANSFERASE-2 DEFICIENCY (OMIM:614055)
Gene: ACAT2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ACETYL-CoA ACETYLTRANSFERASE-2 DEFICIENCY (OMIM:614055)
Gene: ACAT2
Phenotype: Hypotonia (HP:0001252)
Associated disease: ACETYL-CoA ACETYLTRANSFERASE-2 DEFICIENCY (OMIM:614055)
Gene: ACAT2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ACETYL-CoA ACETYLTRANSFERASE-2 DEFICIENCY (OMIM:614055)
Gene: ACAT2
Phenotype: Chorea (HP:0002072)
Associated disease: ACETYL-CoA ACETYLTRANSFERASE-2 DEFICIENCY (OMIM:614055)
Gene: ACAT2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: ACETYL-CoA ACETYLTRANSFERASE-2 DEFICIENCY (OMIM:614055)
Gene: ACAT2
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: ACETYL-CoA ACETYLTRANSFERASE-2 DEFICIENCY (OMIM:614055)
Gene: ACR
Phenotype: Ruffled acrosome (HP:6000501)
Associated disease: SPERMATOGENIC FAILURE 87 (OMIM:620500)
Gene: ACR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 87 (OMIM:620500)
Gene: ACR
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 87 (OMIM:620500)
Gene: ACR
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 87 (OMIM:620500)
Gene: ACO2
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ACO2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559)
Gene: ACO2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559)
Gene: ACO2
Phenotype: Areflexia (HP:0001284)
Associated disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559)
Gene: ACO2
Phenotype: Hypotonia (HP:0001252)
Associated disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559)
Gene: ACO2
Phenotype: Ataxia (HP:0001251)
Associated disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559)
Gene: ACO2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559)
Gene: ACO2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559)
Gene: ACO2
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559)
Gene: ACO2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ACO2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559)
Gene: ACO2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OPTIC ATROPHY 9 (OMIM:616289)
Gene: ACO2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ACO2
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ACO2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ACO2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: OPTIC ATROPHY 9 (OMIM:616289)
Gene: ACO2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559)
Gene: ACO2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559)
Gene: ACO2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559)
Gene: ACO2
Phenotype: Infantile onset (HP:0003593)
Associated disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559)
Gene: ACO2
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559)
Gene: ACO2
Phenotype: Athetosis (HP:0002305)
Associated disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559)
Gene: ACO2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ACO2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: OPTIC ATROPHY 9 (OMIM:616289)
Gene: ACO2
Phenotype: Paracentral scotoma (HP:0030528)
Associated disease: OPTIC ATROPHY 9 (OMIM:616289)
Gene: ACO2
Phenotype: Nystagmus (HP:0000639)
Associated disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559)
Gene: ACO2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: OPTIC ATROPHY 9 (OMIM:616289)
Gene: ACO2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559)
Gene: ACO2
Phenotype: Red-green dyschromatopsia (HP:0000642)
Associated disease: OPTIC ATROPHY 9 (OMIM:616289)
Gene: ACO2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559)
Gene: ACO2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ACO2
Phenotype: Decreased body weight (HP:0004325)
Associated disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559)
Gene: ACO2
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ACO2
Phenotype: Childhood onset (HP:0011463)
Associated disease: OPTIC ATROPHY 9 (OMIM:616289)
Gene: ACO2
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ACO2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ACO2
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559)
Gene: ACO2
Phenotype: Microcephaly (HP:0000252)
Associated disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559)
Gene: ACO2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559)
Gene: ACO2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ACO2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559)
Gene: ACO2
Phenotype: Strabismus (HP:0000486)
Associated disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559)
Gene: ACO2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ACO2
Phenotype: Visual impairment (HP:0000505)
Associated disease: OPTIC ATROPHY 9 (OMIM:616289)
Gene: ACO2
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ACO2
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559)
Gene: ACO2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: OPTIC ATROPHY 9 (OMIM:616289)
Gene: ACO2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ACO2
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ACOX1
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Pseudoadrenoleukodystrophy; Pseudo-neonatal adrenoleukodystrophy; Peroxisomal acyl-CoA oxidase deficiency; Pseudo-NALD (ORPHA:2971)
Gene: ACOX1
Phenotype: CNS demyelination (HP:0007305)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Pseudoadrenoleukodystrophy; Pseudo-neonatal adrenoleukodystrophy; Peroxisomal acyl-CoA oxidase deficiency; Pseudo-NALD (ORPHA:2971)
Gene: ACOX1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MITCHELL SYNDROME (OMIM:618960)
Gene: ACOX1
Phenotype: Hypertonia (HP:0001276)
Associated disease: Pseudoadrenoleukodystrophy; Pseudo-neonatal adrenoleukodystrophy; Peroxisomal acyl-CoA oxidase deficiency; Pseudo-NALD (ORPHA:2971)