TaoMedAI/RareMedData huggingface dataset:
Gene: SDHAF1
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Blindness (HP:0000618)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Moderate global developmental delay (HP:0011343)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Irritability (HP:0000737)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2 (OMIM:619166)
Gene: SDHAF1
Phenotype: Irritability (HP:0000737)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Reduced brain N-acetyl aspartate level by MRS (HP:0012708)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2 (OMIM:619166)
Gene: SDHAF1
Phenotype: Dementia (HP:0000726)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Noncompaction cardiomyopathy (HP:0012817)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Mild microcephaly (HP:0040196)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Growth delay (HP:0001510)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2 (OMIM:619166)
Gene: SDHAF1
Phenotype: Abnormal atrioventricular conduction (HP:0005150)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Focal myoclonic seizure (HP:0011166)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Weight loss (HP:0001824)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: CLRN2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 117 (OMIM:619174)
Gene: CLRN2
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 117 (OMIM:619174)
Gene: CLRN2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 117 (OMIM:619174)
Gene: CLRN2
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 117 (OMIM:619174)
Gene: PRSS56
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROPHTHALMIA, ISOLATED 6 (OMIM:613517)
Gene: PRSS56
Phenotype: High hypermetropia (HP:0008499)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: PRSS56
Phenotype: High hypermetropia (HP:0008499)
Associated disease: MICROPHTHALMIA, ISOLATED 6 (OMIM:613517)
Gene: PRSS56
Phenotype: Amblyopia (HP:0000646)
Associated disease: MICROPHTHALMIA, ISOLATED 6 (OMIM:613517)
Gene: PRSS56
Phenotype: Abnormal choroid morphology (HP:0000610)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: PRSS56
Phenotype: Scleral thickening (HP:0030823)
Associated disease: MICROPHTHALMIA, ISOLATED 6 (OMIM:613517)
Gene: PRSS56
Phenotype: Retinal fold (HP:0008052)
Associated disease: MICROPHTHALMIA, ISOLATED 6 (OMIM:613517)
Gene: PRSS56
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: PRSS56
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: MICROPHTHALMIA, ISOLATED 6 (OMIM:613517)
Gene: PRSS56
Phenotype: Strabismus (HP:0000486)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: PRSS56
Phenotype: Microcornea (HP:0000482)
Associated disease: MICROPHTHALMIA, ISOLATED 6 (OMIM:613517)
Gene: PRSS56
Phenotype: Glaucoma (HP:0000501)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: PRSS56
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: PRSS56
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MICROPHTHALMIA, ISOLATED 6 (OMIM:613517)
Gene: NCF1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Retinal arteriolar tortuosity (HP:0001136)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Stroke (HP:0001297)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Sepsis (HP:0100806)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF1
Phenotype: Renovascular hypertension (HP:0100817)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Meningitis (HP:0001287)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Ataxia (HP:0001251)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Spasticity (HP:0001257)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF1
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1 (OMIM:233700)
Gene: NCF1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Urethral stenosis (HP:0008661)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Proteinuria (HP:0000093)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Renal duplication (HP:0000075)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Bladder diverticulum (HP:0000015)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Abnormality of the bladder (HP:0000014)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Nystagmus-induced head nodding (HP:0001361)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Functional abnormality of male internal genitalia (HP:0000025)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1 (OMIM:233700)
Gene: NCF1
Phenotype: Tremor (HP:0001337)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Dysmetria (HP:0001310)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Overriding aorta (HP:0002623)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Macroglossia (HP:0000158)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Wide mouth (HP:0000154)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Pelvic kidney (HP:0000125)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1 (OMIM:233700)
Gene: NCF1
Phenotype: Recurrent E. coli infections (HP:0002740)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1 (OMIM:233700)
Gene: NCF1
Phenotype: Recurrent Serratia marcescens infections (HP:0002741)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1 (OMIM:233700)
Gene: NCF1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Recurrent Klebsiella infections (HP:0002742)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1 (OMIM:233700)
Gene: NCF1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1 (OMIM:233700)
Gene: NCF1
Phenotype: Recurrent Staphylococcus aureus infections (HP:0002726)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1 (OMIM:233700)
Gene: NCF1
Phenotype: Recurrent Aspergillus infections (HP:0002724)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1 (OMIM:233700)
Gene: NCF1
Phenotype: Absence of bactericidal oxidative respiratory burst in phagocytes (HP:0002723)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1 (OMIM:233700)
Gene: NCF1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1 (OMIM:233700)
Gene: NCF1
Phenotype: Malabsorption (HP:0002024)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF1
Phenotype: Malabsorption (HP:0002024)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Constipation (HP:0002019)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Liver abscess (HP:0100523)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1 (OMIM:233700)
Gene: NCF1
Phenotype: Liver abscess (HP:0100523)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF1
Phenotype: Inflammatory abnormality of the eye (HP:0100533)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF1
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Arterial stenosis (HP:0100545)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Phonophobia (HP:0002183)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1 (OMIM:233700)
Gene: NCF1
Phenotype: Colonic diverticula (HP:0002253)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)