TaoMedAI/RareMedData huggingface dataset:
Gene: PIK3CD
Phenotype: Short distal phalanx of the thumb (HP:0009650)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Intestinal lymphoid nodular hyperplasia (HP:0011956)
Associated disease:  (ORPHA:693661)
Gene: PIK3CD
Phenotype: Dyskinesia (HP:0100660)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: PIK3CD
Phenotype: Cellulitis (HP:0100658)
Associated disease: IMMUNODEFICIENCY 14 (OMIM:615513)
Gene: PIK3CD
Phenotype: Cellulitis (HP:0100658)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3CD
Phenotype: Broad middle phalanx of finger (HP:0009844)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Verrucae (HP:0200043)
Associated disease:  (ORPHA:693661)
Gene: PIK3CD
Phenotype: Verrucae (HP:0200043)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3CD
Phenotype: Decreased circulating total IgG concentration (HP:0032132)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Persistent human papillomavirus infection (HP:0020114)
Associated disease:  (ORPHA:693661)
Gene: PIK3CD
Phenotype: Decreased specific antibody response to vaccination (HP:0032140)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Molluscum contagiosum (HP:0032163)
Associated disease:  (ORPHA:693661)
Gene: PIK3CD
Phenotype: Dermatochalasis (HP:0010750)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Short metatarsal (HP:0010743)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: PIK3CD
Phenotype: Juvenile onset (HP:0003621)
Associated disease: IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE (OMIM:619281)
Gene: PIK3CD
Phenotype: Chronic oral candidiasis (HP:0009098)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Optic atrophy (HP:0000648)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: PIK3CD
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE (OMIM:619281)
Gene: PIK3CD
Phenotype: Dehydration (HP:0001944)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3CD
Phenotype: Fever (HP:0001945)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3CD
Phenotype: Dacryocystitis (HP:0000620)
Associated disease:  (ORPHA:693661)
Gene: PIK3CD
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Short metacarpal (HP:0010049)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: PIK3CD
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: PIK3CD
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Short stature (HP:0004322)
Associated disease:  (ORPHA:693661)
Gene: PIK3CD
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE (OMIM:619281)
Gene: PIK3CD
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Cough (HP:0012735)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3CD
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE (OMIM:619281)
Gene: PIK3CD
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE (OMIM:619281)
Gene: PIK3CD
Phenotype: Agammaglobulinemia (HP:0004432)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3CD
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Flat forehead (HP:0004425)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Clinodactyly of the 4th finger (HP:0040025)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Thin lower lip vermilion (HP:0010282)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: PIK3CD
Phenotype: Thin lower lip vermilion (HP:0010282)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Clinodactyly of the 2nd finger (HP:0040022)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Clinodactyly of the 3rd finger (HP:0040024)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Reduced total natural killer cell count (HP:0040218)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Skin rash (HP:0000988)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3CD
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Osteopenia (HP:0000938)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: PIK3CD
Phenotype: Osteopenia (HP:0000938)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Epicanthus (HP:0000286)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3CD
Phenotype: Abnormal T cell subset distribution (HP:0025540)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3CD
Phenotype: Sinusitis (HP:0000246)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3CD
Phenotype: High palate (HP:0000218)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3CD
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: PIK3CD
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3CD
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE (OMIM:619281)
Gene: PIK3CD
Phenotype: Decreased mitogen-induced T-cell proliferation (HP:0031381)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Decreased anti-CD3/28-induced T-cell proliferation (HP:0031382)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Fatigue (HP:0012378)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3CD
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3CD
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3CD
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE (OMIM:619281)
Gene: PIK3CD
Phenotype: High forehead (HP:0000348)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Increased total monocyte count (HP:0012311)
Associated disease: IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE (OMIM:619281)
Gene: PIK3CD
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3CD
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: PIK3CD
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Autoimmunity (HP:0002960)
Associated disease:  (ORPHA:693661)
Gene: PIK3CD
Phenotype: Abnormality of the chin (HP:0000306)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Combined immunodeficiency (HP:0005387)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: PIK3CD
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Decreased specific pneumococcal antibody level (HP:0012476)
Associated disease: IMMUNODEFICIENCY 14 (OMIM:615513)
Gene: PIK3CD
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Short neck (HP:0000470)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: PIK3CD
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE (OMIM:619281)
Gene: PIK3CD
Phenotype: Recurrent tonsillitis (HP:0011110)
Associated disease:  (ORPHA:693661)
Gene: PIK3CD
Phenotype: Protruding ear (HP:0000411)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Splenomegaly (HP:0001744)
Associated disease:  (ORPHA:693661)
Gene: PIK3CD
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY 14 (OMIM:615513)
Gene: PIK3CD
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: PIK3CD
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Pes cavus (HP:0001761)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: IMMUNODEFICIENCY 14 (OMIM:615513)
Gene: PIK3CD
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: IMMUNODEFICIENCY 14 (OMIM:615513)
Gene: PIK3CD
Phenotype: Recurrent candida infections (HP:0005401)
Associated disease:  (ORPHA:693661)
Gene: PIK3CD
Phenotype: Conjunctivitis (HP:0000509)
Associated disease:  (ORPHA:693661)
Gene: PIK3CD
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3CD
Phenotype: Disseminated cryptosporidium infection (HP:0031699)
Associated disease:  (ORPHA:693661)
Gene: PIK3CD
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE (OMIM:619281)
Gene: PIK3CD
Phenotype: Increased transitional B cell proportion (HP:0030381)
Associated disease: IMMUNODEFICIENCY 14 (OMIM:615513)
Gene: PIK3CD
Phenotype: Decreased class-switched memory B cell proportion (HP:0030388)
Associated disease: IMMUNODEFICIENCY 14 (OMIM:615513)
Gene: PIK3CD
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3CG
Phenotype: Granuloma (HP:0032252)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Colitis (HP:0002583)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Hypotonia (HP:0001252)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Decreased CD8+ TEMRA T cell proportion (HP:0500266)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Hemophagocytosis (HP:0012156)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Abdominal pain (HP:0002027)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Diarrhea (HP:0002014)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Mediastinal lymphadenopathy (HP:0100721)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Bronchiolitis obliterans organizing pneumonia (HP:0011945)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Foam cells (HP:0003651)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Decreased proportion of regulatory T cells (HP:0020113)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Juvenile onset (HP:0003621)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Fever (HP:0001945)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Autoimmune neutropenia (HP:0001904)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Enterocolitis (HP:0004387)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Reduced total natural killer cell count (HP:0040218)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Elevated double-negative T cell proportion (HP:0002851)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Fatigue (HP:0012378)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Decreased total monocyte count (HP:0012312)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Nasal congestion (HP:0001742)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Decreased CD8+ T cell proportion (HP:0005415)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3CG
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Gene: PIK3R1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Persistent CMV viremia (HP:0032247)
Associated disease: IMMUNODEFICIENCY 36 (OMIM:616005)
Gene: PIK3R1
Phenotype: Persistent CMV viremia (HP:0032247)
Associated disease:  (ORPHA:693681)
Gene: PIK3R1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIK3R1
Phenotype: Chronic active Epstein-Barr virus infection (HP:0032204)
Associated disease:  (ORPHA:693681)
Gene: PIK3R1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIK3R1
Phenotype: Sepsis (HP:0100806)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3R1
Phenotype: Meningitis (HP:0001287)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3R1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Global developmental delay (HP:0001263)
Associated disease:  (ORPHA:693681)
Gene: PIK3R1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Excessive wrinkled skin (HP:0007392)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Decreased naive CD4-positive T cell proportion (HP:0410378)
Associated disease: IMMUNODEFICIENCY 36 (OMIM:616005)
Gene: PIK3R1
Phenotype: Decreased naive CD8 T cell proportion (HP:0410377)
Associated disease: IMMUNODEFICIENCY 36 (OMIM:616005)
Gene: PIK3R1
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease:  (ORPHA:693681)
Gene: PIK3R1
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: IMMUNODEFICIENCY 36 (OMIM:616005)
Gene: PIK3R1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIK3R1
Phenotype: Arthritis (HP:0001369)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3R1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIK3R1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Absence of subcutaneous fat (HP:0007485)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIK3R1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)