TaoMedAI/RareMedData huggingface dataset:
Gene: RFC2
Phenotype: Short nose (HP:0003196)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Hypertension (HP:0000822)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Sacral dimple (HP:0000960)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Osteopenia (HP:0000938)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Synostosis of joints (HP:0100240)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Flat cornea (HP:0007720)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Epicanthus (HP:0000286)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Narrow face (HP:0000275)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Aortic arch aneurysm (HP:0005113)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Arthralgia (HP:0002829)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Kyphosis (HP:0002808)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Redundant skin (HP:0001582)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Genu valgum (HP:0002857)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Obesity (HP:0001513)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Dysphonia (HP:0001618)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Long philtrum (HP:0000343)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Broad forehead (HP:0000337)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: High forehead (HP:0000348)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Pointed chin (HP:0000307)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Abnormal carotid artery morphology (HP:0005344)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Macrotia (HP:0000400)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Strabismus (HP:0000486)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Megalocornea (HP:0000485)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Pes planus (HP:0001763)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Protruding ear (HP:0000411)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Cataract (HP:0000518)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Hallux valgus (HP:0001822)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Glaucoma (HP:0000501)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFC2
Phenotype: Myopia (HP:0000545)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RFX5
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Sepsis (HP:0100806)
Associated disease: MHC CLASS II DEFICIENCY 3 (OMIM:620816)
Gene: RFX5
Phenotype: Dysarthria (HP:0001260)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: MHC CLASS II DEFICIENCY 3 (OMIM:620816)
Gene: RFX5
Phenotype: Decreased circulating beta-2-microglobulin level (HP:0025347)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MHC CLASS II DEFICIENCY 5 (OMIM:620818)
Gene: RFX5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MHC CLASS II DEFICIENCY 3 (OMIM:620816)
Gene: RFX5
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: MHC CLASS II DEFICIENCY 3 (OMIM:620816)
Gene: RFX5
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Chronic mucocutaneous candidiasis (HP:0002728)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Recurrent Staphylococcus aureus infections (HP:0002726)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: MHC CLASS II DEFICIENCY 5 (OMIM:620818)
Gene: RFX5
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: MHC CLASS II DEFICIENCY 3 (OMIM:620816)
Gene: RFX5
Phenotype: Sclerosing cholangitis (HP:0030991)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Diarrhea (HP:0002014)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Pneumonia (HP:0002090)
Associated disease: MHC CLASS II DEFICIENCY 5 (OMIM:620818)
Gene: RFX5
Phenotype: Gait ataxia (HP:0002066)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Recurrent infection of the gastrointestinal tract (HP:0004798)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: MHC CLASS II DEFICIENCY 3 (OMIM:620816)
Gene: RFX5
Phenotype: Infantile onset (HP:0003593)
Associated disease: MHC CLASS II DEFICIENCY 5 (OMIM:620818)
Gene: RFX5
Phenotype: Infantile onset (HP:0003593)
Associated disease: MHC CLASS II DEFICIENCY 3 (OMIM:620816)
Gene: RFX5
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Chronic hepatitis due to cryptosporidium infection (HP:0200124)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: BCGitis (HP:0020086)
Associated disease: MHC CLASS II DEFICIENCY 3 (OMIM:620816)
Gene: RFX5
Phenotype: BCGosis (HP:0020087)
Associated disease: MHC CLASS II DEFICIENCY 3 (OMIM:620816)
Gene: RFX5
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: MHC CLASS II DEFICIENCY 5 (OMIM:620818)
Gene: RFX5
Phenotype: Cellulitis (HP:0100658)
Associated disease: MHC CLASS II DEFICIENCY 3 (OMIM:620816)
Gene: RFX5
Phenotype: Chronic oral candidiasis (HP:0009098)
Associated disease: MHC CLASS II DEFICIENCY 3 (OMIM:620816)
Gene: RFX5
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Autoimmune neutropenia (HP:0001904)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: MHC CLASS II DEFICIENCY 5 (OMIM:620818)
Gene: RFX5
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: MHC CLASS II DEFICIENCY 3 (OMIM:620816)
Gene: RFX5
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Protracted diarrhea (HP:0004385)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Protracted diarrhea (HP:0004385)
Associated disease: MHC CLASS II DEFICIENCY 3 (OMIM:620816)
Gene: RFX5
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Panhypogammaglobulinemia (HP:0003139)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Septic arthritis (HP:0003095)
Associated disease: MHC CLASS II DEFICIENCY 3 (OMIM:620816)
Gene: RFX5
Phenotype: Skin rash (HP:0000988)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Reduced MHC II cell surface expression (HP:0031390)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Reduced MHC II cell surface expression (HP:0031390)
Associated disease: MHC CLASS II DEFICIENCY 5 (OMIM:620818)
Gene: RFX5
Phenotype: Reduced MHC II cell surface expression (HP:0031390)
Associated disease: MHC CLASS II DEFICIENCY 3 (OMIM:620816)
Gene: RFX5
Phenotype: Abnormal CD4:CD8 ratio (HP:0031394)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Sinusitis (HP:0000246)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Lymphadenitis (HP:0002840)
Associated disease: MHC CLASS II DEFICIENCY 3 (OMIM:620816)
Gene: RFX5
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MHC CLASS II DEFICIENCY 3 (OMIM:620816)
Gene: RFX5
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: MHC CLASS II DEFICIENCY 5 (OMIM:620818)
Gene: RFX5
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: MHC CLASS II DEFICIENCY 3 (OMIM:620816)
Gene: RFX5
Phenotype: Decreased mitogen-induced T-cell proliferation (HP:0031381)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Rhinitis (HP:0012384)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: MHC CLASS II DEFICIENCY 3 (OMIM:620816)
Gene: RFX5
Phenotype: Acute otitis media (HP:0000371)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Autoimmunity (HP:0002960)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Recurrent protozoan infections (HP:0005386)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Absent cellular immunity (HP:0005354)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Recurrent herpes (HP:0005353)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Abnormality of humoral immunity (HP:0005368)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: MHC CLASS II DEFICIENCY 3 (OMIM:620816)
Gene: RFX5
Phenotype: Splenomegaly (HP:0001744)
Associated disease: MHC CLASS II DEFICIENCY 3 (OMIM:620816)
Gene: RFX5
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: MHC CLASS II DEFICIENCY 3 (OMIM:620816)
Gene: RFX5
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Recurrent candida infections (HP:0005401)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Pancytopenia (HP:0001876)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFX5
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: MHC CLASS II DEFICIENCY 4 (OMIM:620817)
Gene: RFXAP
Phenotype: Hypotonia (HP:0001252)
Associated disease: MHC CLASS II DEFICIENCY 4 (OMIM:620817)
Gene: RFXAP
Phenotype: Ataxia (HP:0001251)
Associated disease: MHC CLASS II DEFICIENCY 4 (OMIM:620817)
Gene: RFXAP
Phenotype: Dysarthria (HP:0001260)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)