TaoMedAI/RareMedData huggingface dataset:
Gene: PIK3CA
Phenotype: High forehead (HP:0000348)
Associated disease: Macrocephaly-capillary malformation syndrome; MCMTC; Megalencephaly-capillary malformation syndrome; MCAP; Megalencephaly-cutis marmorata telangiectatica congenita syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome; Macrocephaly-cutis marmorata telangiectatica congenita syndrome; MCM (ORPHA:60040)
Gene: PIK3CA
Phenotype: Micrognathia (HP:0000347)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (OMIM:602501)
Gene: PIK3CA
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (OMIM:602501)
Gene: PIK3CA
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: PIK3CA
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome; Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome; CLOVES syndrome (ORPHA:140944)
Gene: PIK3CA
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Macrocephaly-capillary malformation syndrome; MCMTC; Megalencephaly-capillary malformation syndrome; MCAP; Megalencephaly-cutis marmorata telangiectatica congenita syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome; Macrocephaly-cutis marmorata telangiectatica congenita syndrome; MCM (ORPHA:60040)
Gene: PIK3CA
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: CLAPO syndrome (ORPHA:168984)
Gene: PIK3CA
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI (OMIM:612918)
Gene: PIK3CA
Phenotype: Capillary malformation of the lip (HP:0031487)
Associated disease: CAPILLARY MALFORMATION OF THE LOWER LIP, LYMPHATIC MALFORMATION OF FACE AND NECK, ASYMMETRY OF FACE AND LIMBS, AND PARTIAL/GENERALIZED OVERGROWTH (OMIM:613089)
Gene: PIK3CA
Phenotype: Capillary malformation of the lip (HP:0031487)
Associated disease: CLAPO syndrome (ORPHA:168984)
Gene: PIK3CA
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (OMIM:602501)
Gene: PIK3CA
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: PIK3CA
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: PIK3CA
Phenotype: Slow decrease in visual acuity (HP:0007924)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: EEG with focal sharp slow waves (HP:0011195)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: PIK3CA
Phenotype: EEG with focal spikes (HP:0011193)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: PIK3CA
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: PIK3CA
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: PIK3CA
Phenotype: Cellular immunodeficiency (HP:0005374)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Capillary hemangioma (HP:0005306)
Associated disease: CLAPO syndrome (ORPHA:168984)
Gene: PIK3CA
Phenotype: Hemifacial hypertrophy (HP:0005323)
Associated disease: HEMIFACIAL MYOHYPERPLASIA (OMIM:606773)
Gene: PIK3CA
Phenotype: Abnormal tricuspid valve morphology (HP:0001702)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: PIK3CA
Phenotype: Venous insufficiency (HP:0005293)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: PIK3CA
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (OMIM:602501)
Gene: PIK3CA
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Macrocephaly-capillary malformation syndrome; MCMTC; Megalencephaly-capillary malformation syndrome; MCAP; Megalencephaly-cutis marmorata telangiectatica congenita syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome; Macrocephaly-cutis marmorata telangiectatica congenita syndrome; MCM (ORPHA:60040)
Gene: PIK3CA
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (OMIM:602501)
Gene: PIK3CA
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Macrocephaly-capillary malformation syndrome; MCMTC; Megalencephaly-capillary malformation syndrome; MCAP; Megalencephaly-cutis marmorata telangiectatica congenita syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome; Macrocephaly-cutis marmorata telangiectatica congenita syndrome; MCM (ORPHA:60040)
Gene: PIK3CA
Phenotype: Increased sensitivity to ionizing radiation (HP:0011133)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: PIK3CA
Phenotype: Webbed neck (HP:0000465)
Associated disease: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI (OMIM:612918)
Gene: PIK3CA
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Macrocephaly-capillary malformation syndrome; MCMTC; Megalencephaly-capillary malformation syndrome; MCAP; Megalencephaly-cutis marmorata telangiectatica congenita syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome; Macrocephaly-cutis marmorata telangiectatica congenita syndrome; MCM (ORPHA:60040)
Gene: PIK3CA
Phenotype: Bulbous tips of toes (HP:0001782)
Associated disease: Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome; Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome; CLOVES syndrome (ORPHA:140944)
Gene: PIK3CA
Phenotype: Splenomegaly (HP:0001744)
Associated disease: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI (OMIM:612918)
Gene: PIK3CA
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PIK3CA
Phenotype: Transitional cell carcinoma of the bladder (HP:0006740)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PIK3CA
Phenotype: Transitional cell carcinoma of the bladder (HP:0006740)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Follicular thyroid carcinoma (HP:0006731)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Hereditary nonpolyposis colorectal carcinoma (HP:0006716)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PIK3CA
Phenotype: Epididymal cyst (HP:0030424)
Associated disease: Segmental progressive overgrowth syndrome with fibroadipose hyperplasia (ORPHA:314662)
Gene: PIK3CA
Phenotype: Neuroma (HP:0030430)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: PIK3CA
Phenotype: Vascular skin abnormality (HP:0011276)
Associated disease: Segmental progressive overgrowth syndrome with fibroadipose hyperplasia (ORPHA:314662)
Gene: PIK3CA
Phenotype: Vascular skin abnormality (HP:0011276)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: PIK3CA
Phenotype: Ovarian papillary adenocarcinoma (HP:0006774)
Associated disease: OVARIAN CANCER (OMIM:167000)
Gene: PIK3CA
Phenotype: Malignant genitourinary tract tumor (HP:0006758)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Enlarged pituitary gland (HP:0012505)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Cataract (HP:0000518)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Cataract (HP:0000518)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Sandal gap (HP:0001852)
Associated disease: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI (OMIM:612918)
Gene: PIK3CA
Phenotype: Sandal gap (HP:0001852)
Associated disease: Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome; Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome; CLOVES syndrome (ORPHA:140944)
Gene: PIK3CA
Phenotype: Proptosis (HP:0000520)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: Hemihyperplasia-multiple lipomatosis syndrome; HHML (ORPHA:276280)
Gene: PIK3CA
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: Macrocephaly-capillary malformation syndrome; MCMTC; Megalencephaly-capillary malformation syndrome; MCAP; Megalencephaly-cutis marmorata telangiectatica congenita syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome; Macrocephaly-cutis marmorata telangiectatica congenita syndrome; MCM (ORPHA:60040)
Gene: PIK3CA
Phenotype: Weight loss (HP:0001824)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Ptosis (HP:0000508)
Associated disease: HEMIFACIAL MYOHYPERPLASIA (OMIM:606773)
Gene: PIK3CA
Phenotype: Visual impairment (HP:0000505)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Macrodactyly (HP:0004099)
Associated disease: CAPILLARY MALFORMATION OF THE LOWER LIP, LYMPHATIC MALFORMATION OF FACE AND NECK, ASYMMETRY OF FACE AND LIMBS, AND PARTIAL/GENERALIZED OVERGROWTH (OMIM:613089)
Gene: PIK3CA
Phenotype: Macrodactyly (HP:0004099)
Associated disease: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI (OMIM:612918)
Gene: PIK3CA
Phenotype: Macrodactyly (HP:0004099)
Associated disease: Hemihyperplasia-multiple lipomatosis syndrome; HHML (ORPHA:276280)
Gene: PIK3CA
Phenotype: Macrodactyly (HP:0004099)
Associated disease: Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome; Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome; CLOVES syndrome (ORPHA:140944)
Gene: PIK3CA
Phenotype: Macrodactyly (HP:0004099)
Associated disease: CLAPO syndrome (ORPHA:168984)
Gene: PIK3CA
Phenotype: Macrodactyly (HP:0004099)
Associated disease: MACRODACTYLY (OMIM:155500)
Gene: PIK3CA
Phenotype: Decreased circulating luteinizing hormone level (HP:0030344)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Decreased circulating follicle stimulating hormone concentration (HP:0030341)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Non-small cell lung carcinoma (HP:0030358)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: PIK3CA
Phenotype: Hemihypsarrhythmia (HP:0011215)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: PIK3CA
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (OMIM:602501)
Gene: PIK3CA
Phenotype: Pain (HP:0012531)
Associated disease: Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome; Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome; CLOVES syndrome (ORPHA:140944)
Gene: PIK3CA
Phenotype: Myopia (HP:0000545)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Myopia (HP:0000545)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CD
Phenotype: Psoriasiform dermatitis (HP:0003765)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Persistent CMV viremia (HP:0032247)
Associated disease:  (ORPHA:693661)
Gene: PIK3CD
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: PIK3CD
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Chronic active Epstein-Barr virus infection (HP:0032204)
Associated disease:  (ORPHA:693661)
Gene: PIK3CD
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Sepsis (HP:0100806)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3CD
Phenotype: Meningitis (HP:0001287)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3CD
Phenotype: Colitis (HP:0002583)
Associated disease: IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE (OMIM:619281)
Gene: PIK3CD
Phenotype: Ataxia (HP:0001251)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: PIK3CD
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Global developmental delay (HP:0001263)
Associated disease:  (ORPHA:693661)
Gene: PIK3CD
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE (OMIM:619281)
Gene: PIK3CD
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease:  (ORPHA:693661)
Gene: PIK3CD
Phenotype: Arteria lusoria (HP:0031014)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: PIK3CD
Phenotype: Arthritis (HP:0001369)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Arthritis (HP:0001369)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: PIK3CD
Phenotype: Arthritis (HP:0001369)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3CD
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: PIK3CD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE (OMIM:619281)
Gene: PIK3CD
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IMMUNODEFICIENCY 14 (OMIM:615513)
Gene: PIK3CD
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Abnormal natural killer cell physiology (HP:0012177)
Associated disease: IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE (OMIM:619281)
Gene: PIK3CD
Phenotype: Hepatitis (HP:0012115)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3CD
Phenotype: Lacrimal duct stenosis (HP:0007678)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: PIK3CD
Phenotype: Lacrimal duct stenosis (HP:0007678)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Recurrent ear infections (HP:0410018)
Associated disease: IMMUNODEFICIENCY 14 (OMIM:615513)
Gene: PIK3CD
Phenotype: Recurrent ear infections (HP:0410018)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3CD
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3CD
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IMMUNODEFICIENCY 14 (OMIM:615513)
Gene: PIK3CD
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease:  (ORPHA:693661)
Gene: PIK3CD
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE (OMIM:619281)
Gene: PIK3CD
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 14 (OMIM:615513)
Gene: PIK3CD
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3CD
Phenotype: Malabsorption (HP:0002024)
Associated disease:  (ORPHA:693661)
Gene: PIK3CD
Phenotype: Malabsorption (HP:0002024)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3CD
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE (OMIM:619281)
Gene: PIK3CD
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE (OMIM:619281)
Gene: PIK3CD
Phenotype: Diarrhea (HP:0002014)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3CD
Phenotype: Diarrhea (HP:0002014)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Diarrhea (HP:0002014)
Associated disease:  (ORPHA:693661)
Gene: PIK3CD
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Palpebral edema (HP:0100540)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Intention tremor (HP:0002080)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Pneumonia (HP:0002090)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: PIK3CD
Phenotype: Myopathic facies (HP:0002058)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: PIK3CD
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: PIK3CD
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Decreased circulating total IgA (HP:0003460)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Recurrent aspiration pneumonia (HP:0002100)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IMMUNODEFICIENCY 14 (OMIM:615513)
Gene: PIK3CD
Phenotype: Bronchiectasis (HP:0002110)
Associated disease:  (ORPHA:693661)
Gene: PIK3CD
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3CD
Phenotype: Increased circulating IgM level (HP:0003496)
Associated disease: IMMUNODEFICIENCY 14 (OMIM:615513)
Gene: PIK3CD
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Increased total neutrophil count (HP:0011897)
Associated disease: IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE (OMIM:619281)
Gene: PIK3CD
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: PIK3CD
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: PIK3CD
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE (OMIM:619281)
Gene: PIK3CD
Phenotype: Hepatomegaly (HP:0002240)
Associated disease:  (ORPHA:693661)
Gene: PIK3CD
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3CD
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: IMMUNODEFICIENCY 14 (OMIM:615513)
Gene: PIK3CD
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease:  (ORPHA:693661)
Gene: PIK3CD
Phenotype: Candida esophagitis (HP:0033351)
Associated disease: IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE (OMIM:619281)
Gene: PIK3CD
Phenotype: Decreased circulating IgG2 concentration (HP:0008348)
Associated disease: IMMUNODEFICIENCY 14 (OMIM:615513)