TaoMedAI/RareMedData huggingface dataset:
Gene: SCARB2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Osteopenia (HP:0000938)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Elevated circulating CCL18 level (HP:0032640)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Splenic rupture (HP:0012223)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Ascites (HP:0001541)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Growth delay (HP:0001510)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Biliary tract obstruction (HP:0005230)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Early young adult onset (HP:0025708)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
Gene: SCARB2
Phenotype: Multiple myeloma (HP:0006775)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Normochromic anemia (HP:0001895)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
Gene: SCARB2
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
Gene: SCARB2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: ENTPD1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Autosomal recessive spastic paraplegia type 64; SPG64 (ORPHA:401810)
Gene: ENTPD1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE (OMIM:615683)
Gene: ENTPD1
Phenotype: Areflexia (HP:0001284)
Associated disease: Autosomal recessive spastic paraplegia type 64; SPG64 (ORPHA:401810)
Gene: ENTPD1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE (OMIM:615683)
Gene: ENTPD1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Autosomal recessive spastic paraplegia type 64; SPG64 (ORPHA:401810)
Gene: ENTPD1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE (OMIM:615683)
Gene: ENTPD1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE (OMIM:615683)
Gene: ENTPD1
Phenotype: Spasticity (HP:0001257)
Associated disease: Autosomal recessive spastic paraplegia type 64; SPG64 (ORPHA:401810)
Gene: ENTPD1
Phenotype: Spasticity (HP:0001257)
Associated disease: SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE (OMIM:615683)
Gene: ENTPD1
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Autosomal recessive spastic paraplegia type 64; SPG64 (ORPHA:401810)
Gene: ENTPD1
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE (OMIM:615683)
Gene: ENTPD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE (OMIM:615683)
Gene: ENTPD1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE (OMIM:615683)
Gene: ENTPD1
Phenotype: Intellectual disability, borderline (HP:0006889)
Associated disease: Autosomal recessive spastic paraplegia type 64; SPG64 (ORPHA:401810)
Gene: ENTPD1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Autosomal recessive spastic paraplegia type 64; SPG64 (ORPHA:401810)
Gene: ENTPD1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE (OMIM:615683)
Gene: ENTPD1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Autosomal recessive spastic paraplegia type 64; SPG64 (ORPHA:401810)
Gene: ENTPD1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE (OMIM:615683)
Gene: ENTPD1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE (OMIM:615683)
Gene: ENTPD1
Phenotype: Microcephaly (HP:0000252)
Associated disease: SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE (OMIM:615683)
Gene: ENTPD1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Autosomal recessive spastic paraplegia type 64; SPG64 (ORPHA:401810)
Gene: ENTPD1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE (OMIM:615683)
Gene: ENTPD1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE (OMIM:615683)
Gene: CD40
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3 (OMIM:606843)
Gene: CD40
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3 (OMIM:606843)
Gene: CD40
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3 (OMIM:606843)
Gene: CD40
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3 (OMIM:606843)
Gene: CD40
Phenotype: Increased circulating IgM level (HP:0003496)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3 (OMIM:606843)
Gene: CD40
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3 (OMIM:606843)
Gene: CD40
Phenotype: Absence of lymph node germinal center (HP:0002849)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3 (OMIM:606843)
Gene: CD40
Phenotype: Impaired memory B cell generation (HP:0002847)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3 (OMIM:606843)
Gene: CD40
Phenotype: Impaired Ig class switch recombination (HP:0002959)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3 (OMIM:606843)
Gene: CD40
Phenotype: Decreased circulating IgE concentration (HP:0005479)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3 (OMIM:606843)
Gene: CD40
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3 (OMIM:606843)
Gene: CD40LG
Phenotype: Abnormal circulating IgM concentration (HP:0410243)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Sepsis (HP:0100806)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Meningitis (HP:0001287)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Global developmental delay (HP:0001263)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Cirrhosis (HP:0001394)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Oral ulcer (HP:0000155)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Hepatitis (HP:0012115)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Sclerosing cholangitis (HP:0030991)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Diarrhea (HP:0002014)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Increased circulating IgM level (HP:0003496)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Chronic hepatitis (HP:0200123)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Developmental regression (HP:0002376)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Pneumocystis jirovecii pneumonia (HP:0020102)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Chronic oral candidiasis (HP:0009098)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Ankle clonus (HP:0011448)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Enteroviral encephalitis (HP:0034285)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Stomatitis (HP:0010280)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Enlarged tonsils (HP:0030812)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Increased circulating IgA concentration (HP:0003261)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Gingivitis (HP:0000230)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Failure to thrive (HP:0001508)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Absence of lymph node germinal center (HP:0002849)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Impaired memory B cell generation (HP:0002847)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Dysgammaglobulinemia (HP:0002961)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Impaired Ig class switch recombination (HP:0002959)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Hypoxemia (HP:0012418)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Decreased T cell activation (HP:0005419)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Decreased circulating IgE concentration (HP:0005479)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD40LG
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Gene: CD59
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY (OMIM:612300)
Gene: CD59
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY (OMIM:612300)
Gene: CD59
Phenotype: Areflexia (HP:0001284)
Associated disease: HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY (OMIM:612300)
Gene: CD59
Phenotype: Hypotonia (HP:0001252)
Associated disease: HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY (OMIM:612300)
Gene: CD59
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY (OMIM:612300)
Gene: CD59
Phenotype: Paralysis (HP:0003470)
Associated disease: HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY (OMIM:612300)
Gene: CD59
Phenotype: Infantile onset (HP:0003593)
Associated disease: HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY (OMIM:612300)
Gene: CD59
Phenotype: Paroxysmal nocturnal hemoglobinuria (HP:0004818)
Associated disease: HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY (OMIM:612300)
Gene: CD59
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY (OMIM:612300)
Gene: CD59
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY (OMIM:612300)
Gene: CD59
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY (OMIM:612300)
Gene: CD59
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY (OMIM:612300)
Gene: CD70
Phenotype: Partial absence of specific antibody response to tetanus vaccine (HP:0410297)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 3 (OMIM:618261)
Gene: CD70
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 3 (OMIM:618261)
Gene: CD70
Phenotype: Hodgkin lymphoma (HP:0012189)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 3 (OMIM:618261)
Gene: CD70
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 3 (OMIM:618261)
Gene: CD70
Phenotype: Recurrent infections (HP:0002719)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 3 (OMIM:618261)
Gene: CD70
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 3 (OMIM:618261)
Gene: CD70
Phenotype: Severe varicella zoster infection (HP:0032170)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 3 (OMIM:618261)
Gene: CD70
Phenotype: Lymphoproliferative disorder (HP:0005523)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 3 (OMIM:618261)
Gene: CD70
Phenotype: Recurrent fever (HP:0001954)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 3 (OMIM:618261)
Gene: CD70
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 3 (OMIM:618261)
Gene: CD70
Phenotype: Reduced total natural killer cell count (HP:0040218)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 3 (OMIM:618261)
Gene: CD79A
Phenotype: Sepsis (HP:0100806)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79A
Phenotype: Meningitis (HP:0001287)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79A
Phenotype: Absent isohemagglutinin level (HP:0410293)
Associated disease: AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE (OMIM:613501)
Gene: CD79A
Phenotype: Arthritis (HP:0001369)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE (OMIM:613501)
Gene: CD79A
Phenotype: Hepatitis (HP:0012115)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79A
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE (OMIM:613501)
Gene: CD79A
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79A
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79A
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE (OMIM:613501)
Gene: CD79A
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79A
Phenotype: Malabsorption (HP:0002024)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79A
Phenotype: Diarrhea (HP:0002014)
Associated disease: AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE (OMIM:613501)
Gene: CD79A
Phenotype: Diarrhea (HP:0002014)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79A
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79A
Phenotype: Infantile onset (HP:0003593)
Associated disease: AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE (OMIM:613501)
Gene: CD79A
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79A
Phenotype: Cellulitis (HP:0100658)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79A
Phenotype: Verrucae (HP:0200043)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79A
Phenotype: Neonatal onset (HP:0003623)
Associated disease: AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE (OMIM:613501)
Gene: CD79A
Phenotype: Dehydration (HP:0001944)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79A
Phenotype: Fever (HP:0001945)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79A
Phenotype: Cough (HP:0012735)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79A
Phenotype: Agammaglobulinemia (HP:0004432)
Associated disease: AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE (OMIM:613501)
Gene: CD79A
Phenotype: Agammaglobulinemia (HP:0004432)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79A
Phenotype: Skin rash (HP:0000988)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79A
Phenotype: Epicanthus (HP:0000286)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79A
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79A
Phenotype: Sinusitis (HP:0000246)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79A
Phenotype: High palate (HP:0000218)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE (OMIM:613501)
Gene: CD79A
Phenotype: Recurrent bronchitis (HP:0002837)
Associated disease: AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE (OMIM:613501)
Gene: CD79A
Phenotype: Abnormal T cell morphology (HP:0002843)
Associated disease: AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE (OMIM:613501)
Gene: CD79A
Phenotype: Fatigue (HP:0012378)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79A
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79A
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79A
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE (OMIM:613501)
Gene: CD79A
Phenotype: Absent circulating B cells (HP:0030252)
Associated disease: AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE (OMIM:613501)
Gene: CD79A
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79A
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE (OMIM:613501)
Gene: CD79A
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79B
Phenotype: Sepsis (HP:0100806)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79B
Phenotype: Meningitis (HP:0001287)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79B
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE (OMIM:612692)
Gene: CD79B
Phenotype: Arthritis (HP:0001369)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE (OMIM:612692)
Gene: CD79B
Phenotype: Hepatitis (HP:0012115)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79B
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79B
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: CD79B
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE (OMIM:612692)
Gene: CD79B
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE (OMIM:612692)