TaoMedAI/RareMedData huggingface dataset:
Gene: NFIX
Phenotype: Short philtrum (HP:0000322)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Triangular face (HP:0000325)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Microretrognathia (HP:0000308)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Pointed chin (HP:0000307)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Oval face (HP:0000300)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NFIX
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Premature ventricular contraction (HP:0006682)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Large sternal ossification centers (HP:0006642)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Marshall-Smith syndrome; Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome (ORPHA:561)
Gene: NFIX
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Astigmatism (HP:0000483)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Strabismus (HP:0000486)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Strabismus (HP:0000486)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Eclabion (HP:0012472)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Marshall-Smith syndrome; Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome (ORPHA:561)
Gene: NFIX
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Choanal atresia (HP:0000453)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Marshall-Smith syndrome; Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome (ORPHA:561)
Gene: NFIX
Phenotype: Choanal stenosis (HP:0000452)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Prominent nose (HP:0000448)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Pes cavus (HP:0001761)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NFIX
Phenotype: Proptosis (HP:0000520)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Proptosis (HP:0000520)
Associated disease: Marshall-Smith syndrome; Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome (ORPHA:561)
Gene: NFIX
Phenotype: Hallux valgus (HP:0001822)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Telecanthus (HP:0000506)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Blue sclerae (HP:0000592)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Marshall-Smith syndrome; Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome (ORPHA:561)
Gene: NFIX
Phenotype: Shallow orbits (HP:0000586)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Marshall-Smith syndrome; Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome (ORPHA:561)
Gene: NFIX
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Hypermetropia (HP:0000540)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NFIX
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Myopia (HP:0000545)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Myopia (HP:0000545)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFKB1
Phenotype: Atrophic gastritis (HP:0002582)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12 (OMIM:616576)
Gene: NFKB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12 (OMIM:616576)
Gene: NFKB1
Phenotype: Pyoderma gangrenosum (HP:0025452)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12 (OMIM:616576)
Gene: NFKB1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12 (OMIM:616576)
Gene: NFKB1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12 (OMIM:616576)
Gene: NFKB1
Phenotype: Adult onset (HP:0003581)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12 (OMIM:616576)
Gene: NFKB1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12 (OMIM:616576)
Gene: NFKB1
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12 (OMIM:616576)
Gene: NFKB1
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12 (OMIM:616576)
Gene: NFKB1
Phenotype: Alopecia (HP:0001596)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12 (OMIM:616576)
Gene: NFKB1
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12 (OMIM:616576)
Gene: NFKB1
Phenotype: Chronic pulmonary obstruction (HP:0006510)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12 (OMIM:616576)
Gene: NFKB1
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12 (OMIM:616576)
Gene: NFKB1
Phenotype: Combined immunodeficiency (HP:0005387)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12 (OMIM:616576)
Gene: NFKB1
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12 (OMIM:616576)
Gene: NFKB1
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12 (OMIM:616576)
Gene: NFKB1
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12 (OMIM:616576)
Gene: NFKB1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12 (OMIM:616576)
Gene: NFKB2
Phenotype: Psoriasiform dermatitis (HP:0003765)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Psoriasiform dermatitis (HP:0003765)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10 (OMIM:615577)
Gene: NFKB2
Phenotype: Abnormal periungual morphology (HP:0100803)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Sepsis (HP:0100806)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10 (OMIM:615577)
Gene: NFKB2
Phenotype: Alopecia totalis (HP:0007418)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Alopecia totalis (HP:0007418)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10 (OMIM:615577)
Gene: NFKB2
Phenotype: Abnormal response to ACTH stimulation test (HP:0031074)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10 (OMIM:615577)
Gene: NFKB2
Phenotype: Anti-thyroid peroxidase antibody positivity (HP:0025379)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10 (OMIM:615577)
Gene: NFKB2
Phenotype: Hypoglycemic coma (HP:0001325)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10 (OMIM:615577)
Gene: NFKB2
Phenotype: Hypotension (HP:0002615)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Recurrent oral herpes (HP:0410028)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10 (OMIM:615577)
Gene: NFKB2
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10 (OMIM:615577)
Gene: NFKB2
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10 (OMIM:615577)
Gene: NFKB2
Phenotype: Asthma (HP:0002099)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10 (OMIM:615577)
Gene: NFKB2
Phenotype: Central adrenal insufficiency (HP:0011734)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10 (OMIM:615577)
Gene: NFKB2
Phenotype: Adrenocorticotropin deficient adrenal insufficiency (HP:0011735)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Recurrent viral upper respiratory tract infections (HP:0033166)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10 (OMIM:615577)
Gene: NFKB2
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Recurrent pharyngitis (HP:0100776)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Anti-thyroglobulin antibody positivity (HP:0032069)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10 (OMIM:615577)
Gene: NFKB2
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10 (OMIM:615577)
Gene: NFKB2
Phenotype: Vitiligo (HP:0001045)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Thyroiditis (HP:0100646)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Diplopia (HP:0000651)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10 (OMIM:615577)
Gene: NFKB2
Phenotype: Recurrent hypoglycemia (HP:0001988)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10 (OMIM:615577)
Gene: NFKB2
Phenotype: Abnormal lymphocyte morphology (HP:0004332)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10 (OMIM:615577)
Gene: NFKB2
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10 (OMIM:615577)
Gene: NFKB2
Phenotype: Trachyonychia (HP:0030804)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10 (OMIM:615577)
Gene: NFKB2
Phenotype: Alopecia (HP:0001596)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Onychomycosis (HP:0012203)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10 (OMIM:615577)
Gene: NFKB2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Recurrent bronchitis (HP:0002837)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10 (OMIM:615577)
Gene: NFKB2
Phenotype: Fatigue (HP:0012378)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Frequent Giardia lamblia infestation (HP:0005215)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10 (OMIM:615577)
Gene: NFKB2
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10 (OMIM:615577)
Gene: NFKB2
Phenotype: Decreased circulating ACTH concentration (HP:0002920)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Hyponatremia (HP:0002902)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Combined immunodeficiency (HP:0005387)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10 (OMIM:615577)
Gene: NFKB2
Phenotype: Severe B lymphocytopenia (HP:0005365)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10 (OMIM:615577)
Gene: NFKB2
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10 (OMIM:615577)
Gene: NFKB2
Phenotype: Abnormal size of pituitary gland (HP:0012504)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Decreased circulating androgen concentration (HP:0030349)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKB2
Phenotype: Decreased serum insulin-like growth factor 1 (HP:0030353)
Associated disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Gene: NFKBIA
Phenotype: Absent peripheral lymph nodes in presence of infection (HP:0033581)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIA
Phenotype: Increased total T cell count (HP:0100828)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIA
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIA
Phenotype: Genital edema (HP:0031188)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIA
Phenotype: Anhidrotic ectodermal dysplasia (HP:0007476)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2 (OMIM:612132)
Gene: NFKBIA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2 (OMIM:612132)
Gene: NFKBIA
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIA
Phenotype: Chronic mucocutaneous candidiasis (HP:0002728)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIA
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIA
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIA
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2 (OMIM:612132)
Gene: NFKBIA
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIA
Phenotype: Frontal bossing (HP:0002007)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2 (OMIM:612132)
Gene: NFKBIA
Phenotype: Heat intolerance (HP:0002046)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2 (OMIM:612132)
Gene: NFKBIA
Phenotype: Recurrent infection of the gastrointestinal tract (HP:0004798)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2 (OMIM:612132)
Gene: NFKBIA
Phenotype: Increased circulating IgM level (HP:0003496)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIA
Phenotype: Infantile onset (HP:0003593)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2 (OMIM:612132)
Gene: NFKBIA
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2 (OMIM:612132)
Gene: NFKBIA
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2 (OMIM:612132)