TaoMedAI/RareMedData huggingface dataset:
Gene: NARS1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES (OMIM:619091)
Gene: NARS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES (OMIM:619091)
Gene: NARS1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES (OMIM:619091)
Gene: NARS1
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES (OMIM:619091)
Gene: NARS1
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES (OMIM:619091)
Gene: NARS1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES (OMIM:619091)
Gene: NARS1
Phenotype: Tremor (HP:0001337)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Myoclonus (HP:0001336)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Pachygyria (HP:0001302)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES (OMIM:619091)
Gene: NARS1
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES (OMIM:619091)
Gene: NARS1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES (OMIM:619091)
Gene: NARS1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES (OMIM:619091)
Gene: NARS1
Phenotype: Large fleshy ears (HP:0002265)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES (OMIM:619091)
Gene: NARS1
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES (OMIM:619091)
Gene: NARS1
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES (OMIM:619091)
Gene: NARS1
Phenotype: Impaired tactile sensation (HP:0010830)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES (OMIM:619091)
Gene: NARS1
Phenotype: Impaired tactile sensation (HP:0010830)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES (OMIM:619091)
Gene: NARS1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES (OMIM:619091)
Gene: NARS1
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES (OMIM:619091)
Gene: NARS1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES (OMIM:619091)
Gene: NARS1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Widened cerebral subarachnoid space (HP:0012766)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Retrognathia (HP:0000278)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES (OMIM:619091)
Gene: NARS1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES (OMIM:619091)
Gene: NARS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Overfolded helix (HP:0000396)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Broad forehead (HP:0000337)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES (OMIM:619091)
Gene: NARS1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Cerebral white matter hypoplasia (HP:0012430)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES (OMIM:619091)
Gene: NARS1
Phenotype: Pes cavus (HP:0001761)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: CEACAM6
Phenotype: Nontuberculous mycobacterial pulmonary infection (HP:0032261)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Steatorrhea (HP:0002570)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Reduced forced expiratory volume in one second (HP:0032342)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Recurrent Staphylococcus aureus infections (HP:0002726)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Recurrent Aspergillus infections (HP:0002724)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Malabsorption (HP:0002024)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Asthma (HP:0002099)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Anxiety (HP:0000739)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Depression (HP:0000716)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Meconium ileus (HP:0004401)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Absent vas deferens (HP:0012873)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Decreased body mass index (HP:0045082)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Male infertility (HP:0003251)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Osteopenia (HP:0000938)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Elevated sweat chloride (HP:0012236)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Sinusitis (HP:0000246)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Recurrent Burkholderia cepacia infections (HP:0002842)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Airway obstruction (HP:0006536)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Recurrent Haemophilus influenzae infections (HP:0005376)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM6
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: NBN
Phenotype: Acute leukemia (HP:0002488)
Associated disease: NBS; AT V1; Microcephaly-immunodeficiency-lymphoid malignancy syndrome; Immunodeficiency-microcephaly-chromosomal instability syndrome; Berlin breakage syndrome; Seemanova syndrome type 2; Nijmegen breakage syndrome; Ataxia-telangiectasia, variant 1 (ORPHA:647)
Gene: NBN
Phenotype: Mental deterioration (HP:0001268)
Associated disease: NBS; AT V1; Microcephaly-immunodeficiency-lymphoid malignancy syndrome; Immunodeficiency-microcephaly-chromosomal instability syndrome; Berlin breakage syndrome; Seemanova syndrome type 2; Nijmegen breakage syndrome; Ataxia-telangiectasia, variant 1 (ORPHA:647)
Gene: NBN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: LEUKEMIA, ACUTE LYMPHOBLASTIC (OMIM:613065)
Gene: NBN
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Neoplasm (HP:0002664)
Associated disease: NBS; AT V1; Microcephaly-immunodeficiency-lymphoid malignancy syndrome; Immunodeficiency-microcephaly-chromosomal instability syndrome; Berlin breakage syndrome; Seemanova syndrome type 2; Nijmegen breakage syndrome; Ataxia-telangiectasia, variant 1 (ORPHA:647)
Gene: NBN
Phenotype: Muscle weakness (HP:0001324)
Associated disease: NBS; AT V1; Microcephaly-immunodeficiency-lymphoid malignancy syndrome; Immunodeficiency-microcephaly-chromosomal instability syndrome; Berlin breakage syndrome; Seemanova syndrome type 2; Nijmegen breakage syndrome; Ataxia-telangiectasia, variant 1 (ORPHA:647)
Gene: NBN
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Lymphoma (HP:0002665)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Lymphoma (HP:0002665)
Associated disease: NBS; AT V1; Microcephaly-immunodeficiency-lymphoid malignancy syndrome; Immunodeficiency-microcephaly-chromosomal instability syndrome; Berlin breakage syndrome; Seemanova syndrome type 2; Nijmegen breakage syndrome; Ataxia-telangiectasia, variant 1 (ORPHA:647)
Gene: NBN
Phenotype: T-cell lymphoma (HP:0012190)
Associated disease: NBS; AT V1; Microcephaly-immunodeficiency-lymphoid malignancy syndrome; Immunodeficiency-microcephaly-chromosomal instability syndrome; Berlin breakage syndrome; Seemanova syndrome type 2; Nijmegen breakage syndrome; Ataxia-telangiectasia, variant 1 (ORPHA:647)
Gene: NBN
Phenotype: B-cell lymphoma (HP:0012191)
Associated disease: NBS; AT V1; Microcephaly-immunodeficiency-lymphoid malignancy syndrome; Immunodeficiency-microcephaly-chromosomal instability syndrome; Berlin breakage syndrome; Seemanova syndrome type 2; Nijmegen breakage syndrome; Ataxia-telangiectasia, variant 1 (ORPHA:647)
Gene: NBN
Phenotype: Cleft palate (HP:0000175)
Associated disease: NBS; AT V1; Microcephaly-immunodeficiency-lymphoid malignancy syndrome; Immunodeficiency-microcephaly-chromosomal instability syndrome; Berlin breakage syndrome; Seemanova syndrome type 2; Nijmegen breakage syndrome; Ataxia-telangiectasia, variant 1 (ORPHA:647)
Gene: NBN
Phenotype: Cleft palate (HP:0000175)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Prostate cancer (HP:0012125)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: NBN
Phenotype: Freckling (HP:0001480)
Associated disease: NBS; AT V1; Microcephaly-immunodeficiency-lymphoid malignancy syndrome; Immunodeficiency-microcephaly-chromosomal instability syndrome; Berlin breakage syndrome; Seemanova syndrome type 2; Nijmegen breakage syndrome; Ataxia-telangiectasia, variant 1 (ORPHA:647)
Gene: NBN
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LEUKEMIA, ACUTE LYMPHOBLASTIC (OMIM:613065)
Gene: NBN
Phenotype: Anal stenosis (HP:0002025)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Anal stenosis (HP:0002025)
Associated disease: NBS; AT V1; Microcephaly-immunodeficiency-lymphoid malignancy syndrome; Immunodeficiency-microcephaly-chromosomal instability syndrome; Berlin breakage syndrome; Seemanova syndrome type 2; Nijmegen breakage syndrome; Ataxia-telangiectasia, variant 1 (ORPHA:647)
Gene: NBN
Phenotype: Anal atresia (HP:0002023)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Anal atresia (HP:0002023)
Associated disease: NBS; AT V1; Microcephaly-immunodeficiency-lymphoid malignancy syndrome; Immunodeficiency-microcephaly-chromosomal instability syndrome; Berlin breakage syndrome; Seemanova syndrome type 2; Nijmegen breakage syndrome; Ataxia-telangiectasia, variant 1 (ORPHA:647)
Gene: NBN
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: NBS; AT V1; Microcephaly-immunodeficiency-lymphoid malignancy syndrome; Immunodeficiency-microcephaly-chromosomal instability syndrome; Berlin breakage syndrome; Seemanova syndrome type 2; Nijmegen breakage syndrome; Ataxia-telangiectasia, variant 1 (ORPHA:647)
Gene: NBN
Phenotype: Deep philtrum (HP:0002002)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Deep philtrum (HP:0002002)
Associated disease: NBS; AT V1; Microcephaly-immunodeficiency-lymphoid malignancy syndrome; Immunodeficiency-microcephaly-chromosomal instability syndrome; Berlin breakage syndrome; Seemanova syndrome type 2; Nijmegen breakage syndrome; Ataxia-telangiectasia, variant 1 (ORPHA:647)
Gene: NBN
Phenotype: Diarrhea (HP:0002014)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Pollakisuria (HP:0100515)
Associated disease: NBS; AT V1; Microcephaly-immunodeficiency-lymphoid malignancy syndrome; Immunodeficiency-microcephaly-chromosomal instability syndrome; Berlin breakage syndrome; Seemanova syndrome type 2; Nijmegen breakage syndrome; Ataxia-telangiectasia, variant 1 (ORPHA:647)
Gene: NBN
Phenotype: Recurrent infection of the gastrointestinal tract (HP:0004798)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: NBS; AT V1; Microcephaly-immunodeficiency-lymphoid malignancy syndrome; Immunodeficiency-microcephaly-chromosomal instability syndrome; Berlin breakage syndrome; Seemanova syndrome type 2; Nijmegen breakage syndrome; Ataxia-telangiectasia, variant 1 (ORPHA:647)
Gene: NBN
Phenotype: Congenital onset (HP:0003577)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: NBS; AT V1; Microcephaly-immunodeficiency-lymphoid malignancy syndrome; Immunodeficiency-microcephaly-chromosomal instability syndrome; Berlin breakage syndrome; Seemanova syndrome type 2; Nijmegen breakage syndrome; Ataxia-telangiectasia, variant 1 (ORPHA:647)
Gene: NBN
Phenotype: Glioma (HP:0009733)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Glioma (HP:0009733)
Associated disease: NBS; AT V1; Microcephaly-immunodeficiency-lymphoid malignancy syndrome; Immunodeficiency-microcephaly-chromosomal instability syndrome; Berlin breakage syndrome; Seemanova syndrome type 2; Nijmegen breakage syndrome; Ataxia-telangiectasia, variant 1 (ORPHA:647)
Gene: NBN
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: NBS; AT V1; Microcephaly-immunodeficiency-lymphoid malignancy syndrome; Immunodeficiency-microcephaly-chromosomal instability syndrome; Berlin breakage syndrome; Seemanova syndrome type 2; Nijmegen breakage syndrome; Ataxia-telangiectasia, variant 1 (ORPHA:647)
Gene: NBN
Phenotype: Malar prominence (HP:0010620)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: NBN
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: APLASTIC ANEMIA (OMIM:609135)
Gene: NBN
Phenotype: Aplastic anemia (HP:0001915)
Associated disease: APLASTIC ANEMIA (OMIM:609135)
Gene: NBN
Phenotype: Abnormal hair quantity (HP:0011362)
Associated disease: NBS; AT V1; Microcephaly-immunodeficiency-lymphoid malignancy syndrome; Immunodeficiency-microcephaly-chromosomal instability syndrome; Berlin breakage syndrome; Seemanova syndrome type 2; Nijmegen breakage syndrome; Ataxia-telangiectasia, variant 1 (ORPHA:647)
Gene: NBN
Phenotype: Short stature (HP:0004322)
Associated disease: NBS; AT V1; Microcephaly-immunodeficiency-lymphoid malignancy syndrome; Immunodeficiency-microcephaly-chromosomal instability syndrome; Berlin breakage syndrome; Seemanova syndrome type 2; Nijmegen breakage syndrome; Ataxia-telangiectasia, variant 1 (ORPHA:647)
Gene: NBN
Phenotype: Short stature (HP:0004322)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: NBN
Phenotype: Cachexia (HP:0004326)
Associated disease: NBS; AT V1; Microcephaly-immunodeficiency-lymphoid malignancy syndrome; Immunodeficiency-microcephaly-chromosomal instability syndrome; Berlin breakage syndrome; Seemanova syndrome type 2; Nijmegen breakage syndrome; Ataxia-telangiectasia, variant 1 (ORPHA:647)