TaoMedAI/RareMedData huggingface dataset:
Gene: MYBPC3
Phenotype: Stroke (HP:0001297)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 (OMIM:115197)
Gene: MYBPC3
Phenotype: Syncope (HP:0001279)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 (OMIM:115197)
Gene: MYBPC3
Phenotype: Syncope (HP:0001279)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 10 (OMIM:615396)
Gene: MYBPC3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 (OMIM:115197)
Gene: MYBPC3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 (OMIM:115197)
Gene: MYBPC3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 10 (OMIM:615396)
Gene: MYBPC3
Phenotype: Increased left ventricular end-diastolic volume (HP:0033755)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 10 (OMIM:615396)
Gene: MYBPC3
Phenotype: Respiratory distress (HP:0002098)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 (OMIM:115197)
Gene: MYBPC3
Phenotype: Dyspnea (HP:0002094)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 (OMIM:115197)
Gene: MYBPC3
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 10 (OMIM:615396)
Gene: MYBPC3
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYBPC3
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 (OMIM:115197)
Gene: MYBPC3
Phenotype: Left bundle branch block (HP:0011713)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 (OMIM:115197)
Gene: MYBPC3
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 (OMIM:115197)
Gene: MYBPC3
Phenotype: Pulmonary edema (HP:0100598)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 (OMIM:115197)
Gene: MYBPC3
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYBPC3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 (OMIM:115197)
Gene: MYBPC3
Phenotype: Late onset (HP:0003584)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 10 (OMIM:615396)
Gene: MYBPC3
Phenotype: Adult onset (HP:0003581)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 (OMIM:115197)
Gene: MYBPC3
Phenotype: Chest pain (HP:0100749)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 (OMIM:115197)
Gene: MYBPC3
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 (OMIM:115197)
Gene: MYBPC3
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 (OMIM:115197)
Gene: MYBPC3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 (OMIM:115197)
Gene: MYBPC3
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 (OMIM:115197)
Gene: MYBPC3
Phenotype: Left ventricular noncompaction (HP:0030682)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 10 (OMIM:615396)
Gene: MYBPC3
Phenotype: Young adult onset (HP:0011462)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 10 (OMIM:615396)
Gene: MYBPC3
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYBPC3
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYBPC3
Phenotype: Myopathy (HP:0003198)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 (OMIM:115197)
Gene: MYBPC3
Phenotype: Right atrial enlargement (HP:0030718)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 (OMIM:115197)
Gene: MYBPC3
Phenotype: Muscular ventricular septal defect (HP:0011623)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 (OMIM:115197)
Gene: MYBPC3
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYBPC3
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYBPC3
Phenotype: Ventricular septal hypertrophy (HP:0005144)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 (OMIM:115197)
Gene: MYBPC3
Phenotype: Myofiber disarray (HP:0031318)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 (OMIM:115197)
Gene: MYBPC3
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYBPC3
Phenotype: Ascites (HP:0001541)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 (OMIM:115197)
Gene: MYBPC3
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYBPC3
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 (OMIM:115197)
Gene: MYBPC3
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 (OMIM:115197)
Gene: MYBPC3
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 (OMIM:115197)
Gene: MYBPC3
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 (OMIM:115197)
Gene: MYBPC3
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYBPC3
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 10 (OMIM:615396)
Gene: MYBPC3
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 (OMIM:115197)
Gene: MYBPC3
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 (OMIM:115197)
Gene: MYBPC3
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 (OMIM:115197)
Gene: MYBPC3
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYBPC3
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 (OMIM:115197)
Gene: MYBPC3
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 10 (OMIM:615396)
Gene: MYBPC3
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYBPC3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYBPC3
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 (OMIM:115197)
Gene: MYC
Phenotype: Sporadic (HP:0003745)
Associated disease: BURKITT LYMPHOMA (OMIM:113970)
Gene: MYC
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: Small non-cleaved cell lymphoma; Burkitt lymphoma (ORPHA:543)
Gene: MYC
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Small non-cleaved cell lymphoma; Burkitt lymphoma (ORPHA:543)
Gene: MYC
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Small non-cleaved cell lymphoma; Burkitt lymphoma (ORPHA:543)
Gene: MYC
Phenotype: Abnormality of the ovary (HP:0000137)
Associated disease: Small non-cleaved cell lymphoma; Burkitt lymphoma (ORPHA:543)
Gene: MYC
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: BURKITT LYMPHOMA (OMIM:113970)
Gene: MYC
Phenotype: Abnormal lymph node morphology (HP:0002733)
Associated disease: Small non-cleaved cell lymphoma; Burkitt lymphoma (ORPHA:543)
Gene: MYC
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: BURKITT LYMPHOMA (OMIM:113970)
Gene: MYC
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Small non-cleaved cell lymphoma; Burkitt lymphoma (ORPHA:543)
Gene: MYC
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Small non-cleaved cell lymphoma; Burkitt lymphoma (ORPHA:543)
Gene: MYC
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: Small non-cleaved cell lymphoma; Burkitt lymphoma (ORPHA:543)
Gene: MYC
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Small non-cleaved cell lymphoma; Burkitt lymphoma (ORPHA:543)
Gene: MYC
Phenotype: Neoplasm of the oral cavity (HP:0100649)
Associated disease: Small non-cleaved cell lymphoma; Burkitt lymphoma (ORPHA:543)
Gene: MYC
Phenotype: Abnormal bone marrow cell morphology (HP:0005561)
Associated disease: Small non-cleaved cell lymphoma; Burkitt lymphoma (ORPHA:543)
Gene: MYC
Phenotype: Burkitt lymphoma (HP:0030080)
Associated disease: BURKITT LYMPHOMA (OMIM:113970)
Gene: MYC
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: Small non-cleaved cell lymphoma; Burkitt lymphoma (ORPHA:543)
Gene: MYC
Phenotype: Abnormality of the pancreas (HP:0001732)
Associated disease: Small non-cleaved cell lymphoma; Burkitt lymphoma (ORPHA:543)
Gene: MYC
Phenotype: Abnormality of the spleen (HP:0001743)
Associated disease: Small non-cleaved cell lymphoma; Burkitt lymphoma (ORPHA:543)
Gene: MYCN
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYCN
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYCN
Phenotype: Motor delay (HP:0001270)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Ataxia (HP:0001251)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYCN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1; MODED syndrome type 1; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1; Feingold syndrome type 1; Oculo-digito-esophageal-duodenal syndrome type 1; ODED syndrome type 1; FS1; Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1; Microcephaly-digital anomalies-normal intelligence syndrome type 1; FGLDS1; Brunner-Winter syndrome type 1; MMT type 1 (ORPHA:391641)
Gene: MYCN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Gastrointestinal atresia (HP:0002589)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Gastrointestinal atresia (HP:0002589)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Gastrointestinal atresia (HP:0002589)
Associated disease: Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1; MODED syndrome type 1; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1; Feingold syndrome type 1; Oculo-digito-esophageal-duodenal syndrome type 1; ODED syndrome type 1; FS1; Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1; Microcephaly-digital anomalies-normal intelligence syndrome type 1; FGLDS1; Brunner-Winter syndrome type 1; MMT type 1 (ORPHA:391641)
Gene: MYCN
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYCN
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1; MODED syndrome type 1; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1; Feingold syndrome type 1; Oculo-digito-esophageal-duodenal syndrome type 1; ODED syndrome type 1; FS1; Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1; Microcephaly-digital anomalies-normal intelligence syndrome type 1; FGLDS1; Brunner-Winter syndrome type 1; MMT type 1 (ORPHA:391641)
Gene: MYCN
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1; MODED syndrome type 1; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1; Feingold syndrome type 1; Oculo-digito-esophageal-duodenal syndrome type 1; ODED syndrome type 1; FS1; Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1; Microcephaly-digital anomalies-normal intelligence syndrome type 1; FGLDS1; Brunner-Winter syndrome type 1; MMT type 1 (ORPHA:391641)
Gene: MYCN
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1; MODED syndrome type 1; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1; Feingold syndrome type 1; Oculo-digito-esophageal-duodenal syndrome type 1; ODED syndrome type 1; FS1; Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1; Microcephaly-digital anomalies-normal intelligence syndrome type 1; FGLDS1; Brunner-Winter syndrome type 1; MMT type 1 (ORPHA:391641)
Gene: MYCN
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1; MODED syndrome type 1; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1; Feingold syndrome type 1; Oculo-digito-esophageal-duodenal syndrome type 1; ODED syndrome type 1; FS1; Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1; Microcephaly-digital anomalies-normal intelligence syndrome type 1; FGLDS1; Brunner-Winter syndrome type 1; MMT type 1 (ORPHA:391641)
Gene: MYCN
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Megalencephaly (HP:0001355)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYCN
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Specific learning disability (HP:0001328)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1; MODED syndrome type 1; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1; Feingold syndrome type 1; Oculo-digito-esophageal-duodenal syndrome type 1; ODED syndrome type 1; FS1; Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1; Microcephaly-digital anomalies-normal intelligence syndrome type 1; FGLDS1; Brunner-Winter syndrome type 1; MMT type 1 (ORPHA:391641)
Gene: MYCN
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYCN
Phenotype: Bilateral perisylvian polymicrogyria (HP:0032407)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYCN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Myoclonus (HP:0001336)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYCN
Phenotype: Bone pain (HP:0002653)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYCN
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYCN
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYCN
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYCN
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYCN
Phenotype: Nephritis (HP:0000123)
Associated disease: Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1; MODED syndrome type 1; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1; Feingold syndrome type 1; Oculo-digito-esophageal-duodenal syndrome type 1; ODED syndrome type 1; FS1; Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1; Microcephaly-digital anomalies-normal intelligence syndrome type 1; FGLDS1; Brunner-Winter syndrome type 1; MMT type 1 (ORPHA:391641)
Gene: MYCN
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1; MODED syndrome type 1; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1; Feingold syndrome type 1; Oculo-digito-esophageal-duodenal syndrome type 1; ODED syndrome type 1; FS1; Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1; Microcephaly-digital anomalies-normal intelligence syndrome type 1; FGLDS1; Brunner-Winter syndrome type 1; MMT type 1 (ORPHA:391641)
Gene: MYCN
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYCN
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1; MODED syndrome type 1; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1; Feingold syndrome type 1; Oculo-digito-esophageal-duodenal syndrome type 1; ODED syndrome type 1; FS1; Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1; Microcephaly-digital anomalies-normal intelligence syndrome type 1; FGLDS1; Brunner-Winter syndrome type 1; MMT type 1 (ORPHA:391641)
Gene: MYCN
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYCN
Phenotype: Anal atresia (HP:0002023)
Associated disease: Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1; MODED syndrome type 1; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1; Feingold syndrome type 1; Oculo-digito-esophageal-duodenal syndrome type 1; ODED syndrome type 1; FS1; Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1; Microcephaly-digital anomalies-normal intelligence syndrome type 1; FGLDS1; Brunner-Winter syndrome type 1; MMT type 1 (ORPHA:391641)
Gene: MYCN
Phenotype: Esophageal atresia (HP:0002032)
Associated disease: Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1; MODED syndrome type 1; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1; Feingold syndrome type 1; Oculo-digito-esophageal-duodenal syndrome type 1; ODED syndrome type 1; FS1; Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1; Microcephaly-digital anomalies-normal intelligence syndrome type 1; FGLDS1; Brunner-Winter syndrome type 1; MMT type 1 (ORPHA:391641)
Gene: MYCN
Phenotype: Esophageal atresia (HP:0002032)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: 4-5 toe syndactyly (HP:0004692)
Associated disease: Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1; MODED syndrome type 1; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1; Feingold syndrome type 1; Oculo-digito-esophageal-duodenal syndrome type 1; ODED syndrome type 1; FS1; Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1; Microcephaly-digital anomalies-normal intelligence syndrome type 1; FGLDS1; Brunner-Winter syndrome type 1; MMT type 1 (ORPHA:391641)
Gene: MYCN
Phenotype: 4-5 toe syndactyly (HP:0004692)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1; MODED syndrome type 1; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1; Feingold syndrome type 1; Oculo-digito-esophageal-duodenal syndrome type 1; ODED syndrome type 1; FS1; Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1; Microcephaly-digital anomalies-normal intelligence syndrome type 1; FGLDS1; Brunner-Winter syndrome type 1; MMT type 1 (ORPHA:391641)
Gene: MYCN
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYCN
Phenotype: Elevated circulating catecholamine level (HP:0003334)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYCN
Phenotype: Respiratory distress (HP:0002098)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYCN
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYCN
Phenotype: Tricuspid stenosis (HP:0010446)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)