TaoMedAI/RareMedData huggingface dataset:
Gene: ABL1
Phenotype: Absent earlobe (HP:0000387)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ABL1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ABL1
Phenotype: Premature delivery because of cervical insufficiency or membrane fragility (HP:0005267)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ABL1
Phenotype: Recurrent intrapulmonary hemorrhage (HP:0006535)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ABL1
Phenotype: Repeated pneumothoraces (HP:0006522)
Associated disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME (OMIM:617602)
Gene: ABL1
Phenotype: Repeated pneumothoraces (HP:0006522)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ABL1
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ABL1
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ABL1
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ABL1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ABL1
Phenotype: Low-set ears (HP:0000369)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ABL1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME (OMIM:617602)
Gene: ABL1
Phenotype: Long philtrum (HP:0000343)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ABL1
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ABL1
Phenotype: Broad forehead (HP:0000337)
Associated disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME (OMIM:617602)
Gene: ABL1
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ABL1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME (OMIM:617602)
Gene: ABL1
Phenotype: Micrognathia (HP:0000347)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ABL1
Phenotype: Micrognathia (HP:0000347)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ABL1
Phenotype: Micrognathia (HP:0000347)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ABL1
Phenotype: Micrognathia (HP:0000347)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ABL1
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ABL1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME (OMIM:617602)
Gene: ABL1
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ABL1
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ABL1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ABL1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ABL1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ABL1
Phenotype: Short chin (HP:0000331)
Associated disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME (OMIM:617602)
Gene: ABL1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ABL1
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ABL1
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ABL1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ABL1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ABL1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ABL1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ABL1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME (OMIM:617602)
Gene: ABL1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ABL1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ABL1
Phenotype: Pointed chin (HP:0000307)
Associated disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME (OMIM:617602)
Gene: ABL1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ABL1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME (OMIM:617602)
Gene: ABL1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ABL1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ABL1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ABL1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ABL1
Phenotype: Spontaneous cerebrospinal fluid leak (HP:0032934)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ABL1
Phenotype: Descending aortic dissection (HP:0012499)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ABL1
Phenotype: Aortic tortuosity (HP:0006687)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ABL1
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ABL1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ABL1
Phenotype: Macrotia (HP:0000400)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ABL1
Phenotype: Tricuspid valve prolapse (HP:0001704)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ABL1
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ABL1
Phenotype: Astigmatism (HP:0000483)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ABL1
Phenotype: Astigmatism (HP:0000483)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ABL1
Phenotype: Strabismus (HP:0000486)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ABL1
Phenotype: Strabismus (HP:0000486)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ABL1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ABL1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ABL1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ABL1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ABL1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME (OMIM:617602)
Gene: ABL1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ABL1
Phenotype: Narrow nose (HP:0000460)
Associated disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME (OMIM:617602)
Gene: ABL1
Phenotype: Chronic constipation (HP:0012450)
Associated disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME (OMIM:617602)
Gene: ABL1
Phenotype: Narrow foot (HP:0001786)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ABL1
Phenotype: Short neck (HP:0000470)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ABL1
Phenotype: Pes planus (HP:0001763)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ABL1
Phenotype: Pes planus (HP:0001763)
Associated disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME (OMIM:617602)
Gene: ABL1
Phenotype: Pes planus (HP:0001763)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ABL1
Phenotype: Hammertoe (HP:0001765)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ABL1
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ABL1
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ABL1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Chronic myelogenous leukemia; CML; Chronic granulocytic leukemia; Chronic myeloid leukemia (ORPHA:521)
Gene: ABL1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ABL1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ABL1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ABL1
Phenotype: Pes cavus (HP:0001761)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ABL1
Phenotype: Cataract (HP:0000518)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ABL1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ABL1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ABL1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ABL1
Phenotype: Foot acroosteolysis (HP:0001842)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ABL1
Phenotype: Sandal gap (HP:0001852)
Associated disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME (OMIM:617602)
Gene: ABL1
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ABL1
Phenotype: Proptosis (HP:0000520)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ABL1
Phenotype: Telecanthus (HP:0000506)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ABL1
Phenotype: Ptosis (HP:0000508)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ABL1
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ABL1
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ABL1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME (OMIM:617602)
Gene: ABL1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ABL1
Phenotype: Exotropia (HP:0000577)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ABL1
Phenotype: Shallow orbits (HP:0000586)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ABL1
Phenotype: Keratoconus (HP:0000563)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ABL1
Phenotype: Keratoconus (HP:0000563)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ABL1
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: Chronic myelogenous leukemia; CML; Chronic granulocytic leukemia; Chronic myeloid leukemia (ORPHA:521)
Gene: ABL1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ABL1
Phenotype: Esotropia (HP:0000565)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ABL1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ABL1
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: Chronic myelogenous leukemia; CML; Chronic granulocytic leukemia; Chronic myeloid leukemia (ORPHA:521)
Gene: ABL1
Phenotype: Talipes (HP:0001883)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ABL1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Chronic myelogenous leukemia; CML; Chronic granulocytic leukemia; Chronic myeloid leukemia (ORPHA:521)
Gene: ABL1
Phenotype: Myopia (HP:0000545)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ABL1
Phenotype: Myopia (HP:0000545)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ABL1
Phenotype: Myopia (HP:0000545)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ABL1
Phenotype: Myopia (HP:0000545)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ACACA
Phenotype: Hypotonia (HP:0001252)
Associated disease: ACETYL-CoA CARBOXYLASE DEFICIENCY (OMIM:613933)
Gene: ACACA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ACETYL-CoA CARBOXYLASE DEFICIENCY (OMIM:613933)
Gene: ACACA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ACETYL-CoA CARBOXYLASE DEFICIENCY (OMIM:613933)
Gene: ACACA
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: ACETYL-CoA CARBOXYLASE DEFICIENCY (OMIM:613933)
Gene: ACACA
Phenotype: Reduced tissue acetyl-CoA carboxylase activity (HP:6000430)
Associated disease: ACETYL-CoA CARBOXYLASE DEFICIENCY (OMIM:613933)
Gene: ACACA
Phenotype: Myopathy (HP:0003198)
Associated disease: ACETYL-CoA CARBOXYLASE DEFICIENCY (OMIM:613933)
Gene: ACACA
Phenotype: Growth delay (HP:0001510)
Associated disease: ACETYL-CoA CARBOXYLASE DEFICIENCY (OMIM:613933)
Gene: ACADM
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Elevated urinary 7-hydroxyoctanoic acid level (HP:6000605)
Associated disease: ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (OMIM:201450)
Gene: ACADM
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (OMIM:201450)
Gene: ACADM
Phenotype: Lethargy (HP:0001254)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Lethargy (HP:0001254)
Associated disease: ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (OMIM:201450)
Gene: ACADM
Phenotype: Seizure (HP:0001250)
Associated disease: ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (OMIM:201450)
Gene: ACADM
Phenotype: Hypotonia (HP:0001252)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Hypotonia (HP:0001252)
Associated disease: ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (OMIM:201450)
Gene: ACADM
Phenotype: Ataxia (HP:0001251)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (OMIM:201450)
Gene: ACADM
Phenotype: Coma (HP:0001259)
Associated disease: ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (OMIM:201450)
Gene: ACADM
Phenotype: Coma (HP:0001259)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (OMIM:201450)
Gene: ACADM
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (OMIM:201450)
Gene: ACADM
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Decreased liver function (HP:0001410)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Diarrhea (HP:0002014)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Vomiting (HP:0002013)
Associated disease: ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (OMIM:201450)
Gene: ACADM
Phenotype: Vomiting (HP:0002013)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Decreased plasma total carnitine (HP:0011936)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Cerebral edema (HP:0002181)
Associated disease: ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (OMIM:201450)
Gene: ACADM
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (OMIM:201450)
Gene: ACADM
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Reduced tissue medium-chain acyl-CoA dehydrogenase activity (HP:6000356)
Associated disease: ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (OMIM:201450)
Gene: ACADM
Phenotype: Medium chain dicarboxylic aciduria (HP:0008309)
Associated disease: ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (OMIM:201450)
Gene: ACADM
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Loss of consciousness (HP:0007185)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (OMIM:201450)
Gene: ACADM
Phenotype: Ketosis (HP:0001946)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (OMIM:201450)
Gene: ACADM
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Cachexia (HP:0004326)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Hyperglycinuria (HP:0003108)
Associated disease: ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (OMIM:201450)