TaoMedAI/RareMedData huggingface dataset:
Gene: NBN
Phenotype: Progressive vitiligo (HP:0005602)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Abnormality of the musculature (HP:0003011)
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: Hyperactivity (HP:0000752)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Anorectal anomaly (HP:0012732)
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: Delayed speech and language development (HP:0000750)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Long nose (HP:0003189)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Non-midline cleft of the upper lip (HP:0100335)
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: Abnormality of chromosome stability (HP:0003220)
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: Skeletal muscle atrophy (HP:0003202)
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: Cutaneous photosensitivity (HP:0000992)
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: Cafe-au-lait spot (HP:0000957)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Epicanthus (HP:0000286)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Retrognathia (HP:0000278)
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: Low anterior hairline (HP:0000294)
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: Abnormal hair morphology (HP:0001595)
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: Mastoiditis (HP:0000265)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Abnormality of the face (HP:0000271)
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: Microcephaly (HP:0000252)
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: Microcephaly (HP:0000252)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Sinusitis (HP:0000246)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Respiratory failure (HP:0002878)
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: Neoplasm of the pancreas (HP:0002894)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: NBN
Phenotype: Medulloblastoma (HP:0002885)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Melanoma (HP:0002861)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: NBN
Phenotype: Rhabdomyosarcoma (HP:0002859)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Rhabdomyosarcoma (HP:0002859)
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 upper lip (HP:0000204)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Recurrent bronchitis (HP:0002837)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Abnormal fallopian tube morphology (HP:0011027)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: NBN
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Recurrent pneumonia (HP:0006532)
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: Hearing abnormality (HP:0000364)
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: Sloping forehead (HP:0000340)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Sloping forehead (HP:0000340)
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: Micrognathia (HP:0000347)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Dysgammaglobulinemia (HP:0002961)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Macrotia (HP:0000400)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Macrotia (HP:0000400)
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: Depressed nasal bridge (HP:0005280)
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: Abnormal eyelid morphology (HP:0000492)
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 neck (HP:0000470)
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: Choanal atresia (HP:0000453)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Prominent nose (HP:0000448)
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: Convex nasal ridge (HP:0000444)
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: Prominent nasal bridge (HP:0000426)
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 sinopulmonary infections (HP:0005425)
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: Decreased total T cell count (HP:0005403)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Primary peritoneal carcinoma (HP:0030406)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: NBN
Phenotype: Acute lymphoblastic leukemia (HP:0006721)
Associated disease: LEUKEMIA, ACUTE LYMPHOBLASTIC (OMIM:613065)
Gene: NBN
Phenotype: Conjunctival telangiectasia (HP:0000524)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Sandal gap (HP:0001852)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Upslanted palpebral fissure (HP:0000582)
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: Upslanted palpebral fissure (HP:0000582)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NBN
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
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: Hemolytic anemia (HP:0001878)
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: Thrombocytopenia (HP:0001873)
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: Thrombocytopenia (HP:0001873)
Associated disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Gene: NCF2
Phenotype: Sepsis (HP:0100806)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF2
Phenotype: Meningitis (HP:0001287)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF2
Phenotype: Peritonitis (HP:0002586)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF2
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Cervical lymphadenopathy (HP:0025289)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Pulmonary nodule (HP:0033608)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Recurrent E. coli infections (HP:0002740)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Recurrent Serratia marcescens infections (HP:0002741)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Recurrent Klebsiella infections (HP:0002742)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Recurrent infections (HP:0002719)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Recurrent Staphylococcus aureus infections (HP:0002726)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Recurrent Aspergillus infections (HP:0002724)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Recurrent abscess formation (HP:0002722)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Absence of bactericidal oxidative respiratory burst in phagocytes (HP:0002723)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Malabsorption (HP:0002024)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF2
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF2
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Liver abscess (HP:0100523)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Liver abscess (HP:0100523)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF2
Phenotype: Inflammatory abnormality of the eye (HP:0100533)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF2
Phenotype: Infantile onset (HP:0003593)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF2
Phenotype: Mediastinal lymphadenopathy (HP:0100721)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Mediastinal lymphadenopathy (HP:0100721)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF2
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF2
Phenotype: Cellulitis (HP:0100658)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Lung abscess (HP:0025044)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF2
Phenotype: Perianal abscess (HP:0009789)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Axillary lymphadenopathy (HP:0034752)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Chronic oral candidiasis (HP:0009098)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Fever (HP:0001945)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF2
Phenotype: Macule (HP:0012733)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF2
Phenotype: Childhood onset (HP:0011463)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Decreased activity of NADPH oxidase (HP:0003206)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Decreased neutrophil oxidative burst (HP:0003203)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF2
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF2
Phenotype: Sinusitis (HP:0000246)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF2
Phenotype: Gingivitis (HP:0000230)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF2
Phenotype: Lymphadenitis (HP:0002840)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Recurrent Burkholderia cepacia infections (HP:0002842)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Chronic pulmonary obstruction (HP:0006510)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF2
Phenotype: Otitis media (HP:0000388)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF2
Phenotype: Rectal abscess (HP:0005224)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Granulomatosis (HP:0002955)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Recurrent bacterial skin infections (HP:0005406)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Gene: NCF2
Phenotype: Abnormality of neutrophils (HP:0001874)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF4
Phenotype: Sepsis (HP:0100806)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF4
Phenotype: Meningitis (HP:0001287)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF4
Phenotype: Colitis (HP:0002583)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3 (OMIM:613960)
Gene: NCF4
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3 (OMIM:613960)
Gene: NCF4
Phenotype: Recurrent infections (HP:0002719)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3 (OMIM:613960)
Gene: NCF4
Phenotype: Malabsorption (HP:0002024)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF4
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF4
Phenotype: Abdominal pain (HP:0002027)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3 (OMIM:613960)
Gene: NCF4
Phenotype: Diarrhea (HP:0002014)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3 (OMIM:613960)
Gene: NCF4
Phenotype: Liver abscess (HP:0100523)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF4
Phenotype: Inflammatory abnormality of the eye (HP:0100533)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)