TaoMedAI/RareMedData huggingface dataset:
Gene: MYCN
Phenotype: Tricuspid stenosis (HP:0010446)
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: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYCN
Phenotype: Short middle phalanx of the 2nd finger (HP:0009577)
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: Opsoclonus (HP:0010543)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYCN
Phenotype: Horner syndrome (HP:0002277)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYCN
Phenotype: Meckel diverticulum (HP:0002245)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Congenital onset (HP:0003577)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Congenital onset (HP:0003577)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Duodenal atresia (HP:0002247)
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: Duodenal atresia (HP:0002247)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Elevated urinary catecholamine level (HP:0011976)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYCN
Phenotype: Elevated urinary homovanillic acid (HP:0011977)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYCN
Phenotype: Elevated urinary vanillylmandelic acid (HP:0011978)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYCN
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Anemic pallor (HP:0001017)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYCN
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYCN
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Short thumb (HP:0009778)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Short thumb (HP:0009778)
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: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYCN
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYCN
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYCN
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
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: Short middle phalanx of the 5th finger (HP:0004220)
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: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYCN
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYCN
Phenotype: Fever (HP:0001945)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYCN
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYCN
Phenotype: Anemia (HP:0001903)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYCN
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYCN
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYCN
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Abnormal facial shape (HP:0001999)
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: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Short stature (HP:0004322)
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: Antalgic gait (HP:0031955)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYCN
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYCN
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYCN
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Neoplasm of the nervous system (HP:0004375)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYCN
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYCN
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Short palpebral fissure (HP:0012745)
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: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Irritability (HP:0000737)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYCN
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Short nose (HP:0003196)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYCN
Phenotype: Wide nasal base (HP:0012810)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Hypertension (HP:0000822)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYCN
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYCN
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYCN
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYCN
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYCN
Phenotype: Tricuspid atresia (HP:0011662)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Tricuspid atresia (HP:0011662)
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: Postaxial polydactyly (HP:0100259)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Multiple muscular ventricular septal defects (HP:0011625)
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: Interrupted aortic arch (HP:0011611)
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: Interrupted aortic arch (HP:0011611)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Short middle phalanx of finger (HP:0005819)
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: Short middle phalanx of finger (HP:0005819)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Epicanthus (HP:0000286)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Epicanthus (HP:0000286)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Retrognathia (HP:0000278)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Periorbital ecchymosis with tarsal plate sparing (HP:0025553)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYCN
Phenotype: Prominent occiput (HP:0000269)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Small anterior fontanelle (HP:0000237)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Microcephaly (HP:0000252)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Microcephaly (HP:0000252)
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: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: High palate (HP:0000218)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: High palate (HP:0000218)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYCN
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYCN
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYCN
Phenotype: Abdominal mass (HP:0031500)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYCN
Phenotype: Fatigue (HP:0012378)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYCN
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Jejunal atresia (HP:0005235)
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: Jejunal atresia (HP:0005235)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Hearing impairment (HP:0000365)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYCN
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Low-set ears (HP:0000369)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Low-set ears (HP:0000369)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Long philtrum (HP:0000343)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYCN
Phenotype: Micrognathia (HP:0000347)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Micrognathia (HP:0000347)
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: Square face (HP:0000321)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Patent ductus arteriosus (HP:0001643)
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: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Triangular face (HP:0000325)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Abnormal heart morphology (HP:0001627)
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: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)