TaoMedAI/RareMedData huggingface dataset:
Gene: CYB561
Phenotype: Decreased glomerular filtration rate (HP:0012213)
Associated disease: ORTHOSTATIC HYPOTENSION 2 (OMIM:618182)
Gene: CYBA
Phenotype: Sepsis (HP:0100806)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBA
Phenotype: Meningitis (HP:0001287)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBA
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBA
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4 (OMIM:233690)
Gene: CYBA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4 (OMIM:233690)
Gene: CYBA
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4 (OMIM:233690)
Gene: CYBA
Phenotype: Recurrent E. coli infections (HP:0002740)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4 (OMIM:233690)
Gene: CYBA
Phenotype: Recurrent Serratia marcescens infections (HP:0002741)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4 (OMIM:233690)
Gene: CYBA
Phenotype: Recurrent Klebsiella infections (HP:0002742)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4 (OMIM:233690)
Gene: CYBA
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4 (OMIM:233690)
Gene: CYBA
Phenotype: Recurrent Staphylococcus aureus infections (HP:0002726)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4 (OMIM:233690)
Gene: CYBA
Phenotype: Recurrent Aspergillus infections (HP:0002724)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4 (OMIM:233690)
Gene: CYBA
Phenotype: Absence of bactericidal oxidative respiratory burst in phagocytes (HP:0002723)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4 (OMIM:233690)
Gene: CYBA
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4 (OMIM:233690)
Gene: CYBA
Phenotype: Malabsorption (HP:0002024)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBA
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBA
Phenotype: Liver abscess (HP:0100523)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4 (OMIM:233690)
Gene: CYBA
Phenotype: Liver abscess (HP:0100523)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBA
Phenotype: Inflammatory abnormality of the eye (HP:0100533)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBA
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBA
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4 (OMIM:233690)
Gene: CYBA
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBA
Phenotype: Mediastinal lymphadenopathy (HP:0100721)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBA
Phenotype: Deficiency or absence of cytochrome b(-245) (HP:0003514)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4 (OMIM:233690)
Gene: CYBA
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBA
Phenotype: Cellulitis (HP:0100658)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4 (OMIM:233690)
Gene: CYBA
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBA
Phenotype: Juvenile onset (HP:0003621)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4 (OMIM:233690)
Gene: CYBA
Phenotype: Fever (HP:0001945)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBA
Phenotype: Macule (HP:0012733)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBA
Phenotype: Decreased activity of NADPH oxidase (HP:0003206)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4 (OMIM:233690)
Gene: CYBA
Phenotype: Decreased neutrophil oxidative burst (HP:0003203)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4 (OMIM:233690)
Gene: CYBA
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBA
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBA
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4 (OMIM:233690)
Gene: CYBA
Phenotype: Sinusitis (HP:0000246)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBA
Phenotype: Gingivitis (HP:0000230)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBA
Phenotype: Lymphadenitis (HP:0002840)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4 (OMIM:233690)
Gene: CYBA
Phenotype: Recurrent Burkholderia cepacia infections (HP:0002842)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4 (OMIM:233690)
Gene: CYBA
Phenotype: Chronic pulmonary obstruction (HP:0006510)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBA
Phenotype: Otitis media (HP:0000388)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBA
Phenotype: Rectal abscess (HP:0005224)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4 (OMIM:233690)
Gene: CYBA
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4 (OMIM:233690)
Gene: CYBA
Phenotype: Granulomatosis (HP:0002955)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4 (OMIM:233690)
Gene: CYBA
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBA
Phenotype: Splenomegaly (HP:0001744)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4 (OMIM:233690)
Gene: CYBA
Phenotype: Recurrent bacterial skin infections (HP:0005406)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4 (OMIM:233690)
Gene: CYBA
Phenotype: Abnormality of neutrophils (HP:0001874)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBB
Phenotype: Granuloma (HP:0032252)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: Pulmonary tuberculosis (HP:0032262)
Associated disease: IMMUNODEFICIENCY 34 (OMIM:300645)
Gene: CYBB
Phenotype: Sepsis (HP:0100806)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBB
Phenotype: Meningitis (HP:0001287)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBB
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBB
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: Air bronchogram (HP:0033662)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: Recurrent E. coli infections (HP:0002740)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: Recurrent Serratia marcescens infections (HP:0002741)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: IMMUNODEFICIENCY 34 (OMIM:300645)
Gene: CYBB
Phenotype: Recurrent Klebsiella infections (HP:0002742)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: Recurrent Staphylococcus aureus infections (HP:0002726)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: Recurrent Aspergillus infections (HP:0002724)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: Absence of bactericidal oxidative respiratory burst in phagocytes (HP:0002723)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: Malabsorption (HP:0002024)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBB
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBB
Phenotype: Liver abscess (HP:0100523)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: Liver abscess (HP:0100523)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBB
Phenotype: Inflammatory abnormality of the eye (HP:0100533)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBB
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 34 (OMIM:300645)
Gene: CYBB
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBB
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: Pleural effusion (HP:0002202)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBB
Phenotype: Mediastinal lymphadenopathy (HP:0100721)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBB
Phenotype: Atelectasis (HP:0100750)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: BCGosis (HP:0020087)
Associated disease: IMMUNODEFICIENCY 34 (OMIM:300645)
Gene: CYBB
Phenotype: Deficiency or absence of cytochrome b(-245) (HP:0003514)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBB
Phenotype: Cellulitis (HP:0100658)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBB
Phenotype: Juvenile onset (HP:0003621)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: Fever (HP:0001945)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBB
Phenotype: Fever (HP:0001945)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: Cough (HP:0012735)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: Macule (HP:0012733)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBB
Phenotype: Childhood onset (HP:0011463)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: Decreased activity of NADPH oxidase (HP:0003206)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: Decreased neutrophil oxidative burst (HP:0003203)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBB
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBB
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: Sinusitis (HP:0000246)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBB
Phenotype: Gingivitis (HP:0000230)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBB
Phenotype: Ascites (HP:0001541)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: Lymphadenitis (HP:0002840)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: Recurrent Burkholderia cepacia infections (HP:0002842)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: Chronic pulmonary obstruction (HP:0006510)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBB
Phenotype: Otitis media (HP:0000388)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBB
Phenotype: Rectal abscess (HP:0005224)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: Granulomatosis (HP:0002955)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBB
Phenotype: Splenomegaly (HP:0001744)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: Recurrent bacterial skin infections (HP:0005406)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Gene: CYBB
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: IMMUNODEFICIENCY 34 (OMIM:300645)
Gene: CYBB
Phenotype: Abnormality of neutrophils (HP:0001874)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYC1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615453)
Gene: CYC1
Phenotype: Coma (HP:0001259)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615453)
Gene: CYC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615453)
Gene: CYC1
Phenotype: Vomiting (HP:0002013)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615453)
Gene: CYC1
Phenotype: Episodic ketoacidosis (HP:0005974)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615453)
Gene: CYC1
Phenotype: Metabolic ketoacidosis (HP:0005979)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615453)
Gene: CYC1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615453)
Gene: CYC1
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615453)
Gene: CYC1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615453)
Gene: CYC1
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615453)
Gene: CYC1
Phenotype: Dehydration (HP:0001944)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615453)
Gene: CYC1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615453)
Gene: CYC1
Phenotype: Ketoacidosis (HP:0001993)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615453)
Gene: CYC1
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615453)
Gene: CYC1
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615453)
Gene: CYC1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615453)
Gene: CYC1
Phenotype: Elevated lactate:pyruvate ratio (HP:0032653)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615453)
Gene: CYC1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615453)
Gene: CYC1
Phenotype: Growth delay (HP:0001510)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615453)
Gene: CYC1
Phenotype: Acute hepatic failure (HP:0006554)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615453)
Gene: CYC1
Phenotype: Ketonuria (HP:0002919)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615453)
Gene: CYC1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615453)
Gene: CYC1
Phenotype: Ptosis (HP:0000508)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615453)
Gene: CYLC1
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 8 (OMIM:301119)
Gene: CYLC1
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 8 (OMIM:301119)
Gene: CYLC1
Phenotype: Reduced progressive sperm motility (HP:0034011)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 8 (OMIM:301119)
Gene: CYLC1
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 8 (OMIM:301119)
Gene: CYLC1
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 8 (OMIM:301119)
Gene: CYLC1
Phenotype: Abnormal sperm head morphology (HP:0012865)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 8 (OMIM:301119)
Gene: CYLC1
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 8 (OMIM:301119)
Gene: CYLD
Phenotype: Dyscalculia (HP:0002442)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:619132)
Gene: CYLD
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:619132)
Gene: CYLD
Phenotype: Neoplasm (HP:0002664)
Associated disease: BROOKE-SPIEGLER SYNDROME (OMIM:605041)
Gene: CYLD
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: Familial multiple trichoepithelioma (ORPHA:867)
Gene: CYLD
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1 (OMIM:601606)
Gene: CYLD
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BROOKE-SPIEGLER SYNDROME (OMIM:605041)
Gene: CYLD
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CYLINDROMATOSIS, FAMILIAL (OMIM:132700)
Gene: CYLD
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:619132)
Gene: CYLD
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1 (OMIM:601606)
Gene: CYLD
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Familial multiple trichoepithelioma (ORPHA:867)
Gene: CYLD
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Familial cylindromatosis; Turban tumor syndrome (ORPHA:211)
Gene: CYLD
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Familial multiple trichoepithelioma (ORPHA:867)
Gene: CYLD
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Familial cylindromatosis; Turban tumor syndrome (ORPHA:211)
Gene: CYLD
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:619132)
Gene: CYLD
Phenotype: Neurofibrillary tangles (HP:0002185)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:619132)
Gene: CYLD
Phenotype: Echolalia (HP:0010529)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:619132)
Gene: CYLD
Phenotype: Middle age onset (HP:0003596)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:619132)
Gene: CYLD
Phenotype: Late onset (HP:0003584)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:619132)
Gene: CYLD
Phenotype: Adult onset (HP:0003581)
Associated disease: TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1 (OMIM:601606)
Gene: CYLD
Phenotype: Adult onset (HP:0003581)
Associated disease: CYLINDROMATOSIS, FAMILIAL (OMIM:132700)
Gene: CYLD
Phenotype: Adult onset (HP:0003581)
Associated disease: BROOKE-SPIEGLER SYNDROME (OMIM:605041)
Gene: CYLD
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:619132)
Gene: CYLD
Phenotype: Milia (HP:0001056)
Associated disease: BROOKE-SPIEGLER SYNDROME (OMIM:605041)
Gene: CYLD
Phenotype: Aphasia (HP:0002381)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:619132)
Gene: CYLD
Phenotype: Memory impairment (HP:0002354)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:619132)
Gene: CYLD
Phenotype: Papule (HP:0200034)
Associated disease: Familial multiple trichoepithelioma (ORPHA:867)
Gene: CYLD
Phenotype: Dementia (HP:0000726)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:619132)
Gene: CYLD
Phenotype: Atypical behavior (HP:0000708)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:619132)
Gene: CYLD
Phenotype: Young adult onset (HP:0011462)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:619132)
Gene: CYLD
Phenotype: Impaired executive functioning (HP:0033051)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:619132)
Gene: CYLD
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: CYLINDROMATOSIS, FAMILIAL (OMIM:132700)
Gene: CYP1B1
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: CYP1B1
Phenotype: Epiphora (HP:0009926)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)