TaoMedAI/RareMedData huggingface dataset:
Gene: STAT1
Phenotype: Early young adult onset (HP:0025708)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Recurrent mycobacterium avium complex infections (HP:0011275)
Associated disease: IMMUNODEFICIENCY 31A (OMIM:614892)
Gene: STAT1
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: IMMUNODEFICIENCY 31B (OMIM:613796)
Gene: STAT1
Phenotype: Weight loss (HP:0001824)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Abnormal circulating interferon-gamma concentration (HP:0030355)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT2
Phenotype: Abnormal circulating IgG concentration (HP:0410242)
Associated disease: IMMUNODEFICIENCY 44 (OMIM:616636)
Gene: STAT2
Phenotype: Encephalopathy (HP:0001298)
Associated disease: IMMUNODEFICIENCY 44 (OMIM:616636)
Gene: STAT2
Phenotype: Seizure (HP:0001250)
Associated disease: PSEUDO-TORCH SYNDROME 3 (OMIM:618886)
Gene: STAT2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PSEUDO-TORCH SYNDROME 3 (OMIM:618886)
Gene: STAT2
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: PSEUDO-TORCH SYNDROME 3 (OMIM:618886)
Gene: STAT2
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: PSEUDO-TORCH SYNDROME 3 (OMIM:618886)
Gene: STAT2
Phenotype: Proteinuria (HP:0000093)
Associated disease: PSEUDO-TORCH SYNDROME 3 (OMIM:618886)
Gene: STAT2
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: PSEUDO-TORCH SYNDROME 3 (OMIM:618886)
Gene: STAT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PSEUDO-TORCH SYNDROME 3 (OMIM:618886)
Gene: STAT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 44 (OMIM:616636)
Gene: STAT2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: PSEUDO-TORCH SYNDROME 3 (OMIM:618886)
Gene: STAT2
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNODEFICIENCY 44 (OMIM:616636)
Gene: STAT2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: PSEUDO-TORCH SYNDROME 3 (OMIM:618886)
Gene: STAT2
Phenotype: Elevated circulating D-dimer concentration (HP:0033106)
Associated disease: PSEUDO-TORCH SYNDROME 3 (OMIM:618886)
Gene: STAT2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: IMMUNODEFICIENCY 44 (OMIM:616636)
Gene: STAT2
Phenotype: Apnea (HP:0002104)
Associated disease: PSEUDO-TORCH SYNDROME 3 (OMIM:618886)
Gene: STAT2
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 44 (OMIM:616636)
Gene: STAT2
Phenotype: Post-vaccination measles (HP:0020088)
Associated disease: IMMUNODEFICIENCY 44 (OMIM:616636)
Gene: STAT2
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: PSEUDO-TORCH SYNDROME 3 (OMIM:618886)
Gene: STAT2
Phenotype: Recurrent fever (HP:0001954)
Associated disease: PSEUDO-TORCH SYNDROME 3 (OMIM:618886)
Gene: STAT2
Phenotype: Anemia (HP:0001903)
Associated disease: PSEUDO-TORCH SYNDROME 3 (OMIM:618886)
Gene: STAT2
Phenotype: Congenital thrombocytopenia (HP:0001905)
Associated disease: PSEUDO-TORCH SYNDROME 3 (OMIM:618886)
Gene: STAT2
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: PSEUDO-TORCH SYNDROME 3 (OMIM:618886)
Gene: STAT2
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: IMMUNODEFICIENCY 44 (OMIM:616636)
Gene: STAT2
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNODEFICIENCY 44 (OMIM:616636)
Gene: STAT2
Phenotype: Hypertension (HP:0000822)
Associated disease: PSEUDO-TORCH SYNDROME 3 (OMIM:618886)
Gene: STAT2
Phenotype: Elevated CSF neopterin level (HP:0040204)
Associated disease: IMMUNODEFICIENCY 44 (OMIM:616636)
Gene: STAT2
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: PSEUDO-TORCH SYNDROME 3 (OMIM:618886)
Gene: STAT2
Phenotype: Death in infancy (HP:0001522)
Associated disease: PSEUDO-TORCH SYNDROME 3 (OMIM:618886)
Gene: STAT2
Phenotype: Lymphadenitis (HP:0002840)
Associated disease: PSEUDO-TORCH SYNDROME 3 (OMIM:618886)
Gene: STAT2
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: IMMUNODEFICIENCY 44 (OMIM:616636)
Gene: STAT2
Phenotype: Premature birth (HP:0001622)
Associated disease: PSEUDO-TORCH SYNDROME 3 (OMIM:618886)
Gene: STAT2
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: PSEUDO-TORCH SYNDROME 3 (OMIM:618886)
Gene: STAT2
Phenotype: Severe viral infection (HP:0031691)
Associated disease: IMMUNODEFICIENCY 44 (OMIM:616636)
Gene: STAT2
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: IMMUNODEFICIENCY 44 (OMIM:616636)
Gene: STAT3
Phenotype: Xanthelasma (HP:0001114)
Associated disease: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency; Autosomal dominant HIES due to STAT3 deficiency; Job syndrome; Buckley syndrome; Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency; AD-HIES due to STAT3 deficiency (ORPHA:2314)
Gene: STAT3
Phenotype: Abnormality of the upper urinary tract (HP:0010935)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Eosinophilic infiltration of the esophagus (HP:0410151)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Eosinophilic infiltration in the stomach mucosa (HP:0410147)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STAT3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STAT3
Phenotype: Motor delay (HP:0001270)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Recurrent cutaneous abscess formation (HP:0100838)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Hypotonia (HP:0001252)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Ataxia (HP:0001251)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Pancreatic hypoplasia (HP:0002594)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Gastric ulcer (HP:0002592)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Duodenal ulcer (HP:0002588)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Coma (HP:0001259)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Achalasia (HP:0002571)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 (OMIM:615952)
Gene: STAT3
Phenotype: Chronic infection (HP:0031035)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: STAT3
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STAT3
Phenotype: Bone marrow hypercellularity (HP:0031020)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: STAT3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency; Autosomal dominant HIES due to STAT3 deficiency; Job syndrome; Buckley syndrome; Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency; AD-HIES due to STAT3 deficiency (ORPHA:2314)
Gene: STAT3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency; Autosomal dominant HIES due to STAT3 deficiency; Job syndrome; Buckley syndrome; Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency; AD-HIES due to STAT3 deficiency (ORPHA:2314)
Gene: STAT3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STAT3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: STAT3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STAT3
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Lymphoma (HP:0002665)
Associated disease: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency; Autosomal dominant HIES due to STAT3 deficiency; Job syndrome; Buckley syndrome; Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency; AD-HIES due to STAT3 deficiency (ORPHA:2314)
Gene: STAT3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 (OMIM:615952)
Gene: STAT3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STAT3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Bone pain (HP:0002653)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: STAT3
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency; Autosomal dominant HIES due to STAT3 deficiency; Job syndrome; Buckley syndrome; Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency; AD-HIES due to STAT3 deficiency (ORPHA:2314)
Gene: STAT3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STAT3
Phenotype: Scoliosis (HP:0002650)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency; Autosomal dominant HIES due to STAT3 deficiency; Job syndrome; Buckley syndrome; Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency; AD-HIES due to STAT3 deficiency (ORPHA:2314)
Gene: STAT3
Phenotype: Pulmonary cyst (HP:0032445)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STAT3
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Increased hepatic echogenicity (HP:0031141)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Celiac disease (HP:0002608)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 (OMIM:615952)
Gene: STAT3
Phenotype: Hodgkin lymphoma (HP:0012189)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 (OMIM:615952)
Gene: STAT3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 (OMIM:615952)
Gene: STAT3
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency; Autosomal dominant HIES due to STAT3 deficiency; Job syndrome; Buckley syndrome; Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency; AD-HIES due to STAT3 deficiency (ORPHA:2314)
Gene: STAT3
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Cleft palate (HP:0000175)
Associated disease: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency; Autosomal dominant HIES due to STAT3 deficiency; Job syndrome; Buckley syndrome; Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency; AD-HIES due to STAT3 deficiency (ORPHA:2314)
Gene: STAT3
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Persistence of primary teeth (HP:0006335)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Cutaneous abscess (HP:0031292)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Cutaneous abscess (HP:0031292)
Associated disease: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency; Autosomal dominant HIES due to STAT3 deficiency; Job syndrome; Buckley syndrome; Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency; AD-HIES due to STAT3 deficiency (ORPHA:2314)
Gene: STAT3
Phenotype: Reduced pancreatic beta cells (HP:0006274)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 (OMIM:615952)
Gene: STAT3
Phenotype: Diffuse alveolar hemorrhage (HP:0025420)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: STAT3
Phenotype: Early satiety (HP:0033842)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Pulmonary pneumatocele (HP:0025419)
Associated disease: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency; Autosomal dominant HIES due to STAT3 deficiency; Job syndrome; Buckley syndrome; Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency; AD-HIES due to STAT3 deficiency (ORPHA:2314)
Gene: STAT3
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 (OMIM:615952)
Gene: STAT3
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Renal tubular dysfunction (HP:0000124)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency; Autosomal dominant HIES due to STAT3 deficiency; Job syndrome; Buckley syndrome; Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency; AD-HIES due to STAT3 deficiency (ORPHA:2314)
Gene: STAT3
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency; Autosomal dominant HIES due to STAT3 deficiency; Job syndrome; Buckley syndrome; Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency; AD-HIES due to STAT3 deficiency (ORPHA:2314)
Gene: STAT3
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 (OMIM:615952)
Gene: STAT3
Phenotype: Productive cough (HP:0031245)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: STAT3
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency; Autosomal dominant HIES due to STAT3 deficiency; Job syndrome; Buckley syndrome; Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency; AD-HIES due to STAT3 deficiency (ORPHA:2314)
Gene: STAT3
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: STAT3
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Chronic mucocutaneous candidiasis (HP:0002728)
Associated disease: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency; Autosomal dominant HIES due to STAT3 deficiency; Job syndrome; Buckley syndrome; Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency; AD-HIES due to STAT3 deficiency (ORPHA:2314)
Gene: STAT3
Phenotype: Chronic mucocutaneous candidiasis (HP:0002728)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Recurrent Staphylococcus aureus infections (HP:0002726)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Recurrent Staphylococcus aureus infections (HP:0002726)
Associated disease: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency; Autosomal dominant HIES due to STAT3 deficiency; Job syndrome; Buckley syndrome; Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency; AD-HIES due to STAT3 deficiency (ORPHA:2314)
Gene: STAT3
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency; Autosomal dominant HIES due to STAT3 deficiency; Job syndrome; Buckley syndrome; Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency; AD-HIES due to STAT3 deficiency (ORPHA:2314)
Gene: STAT3
Phenotype: Nausea (HP:0002018)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Constipation (HP:0002019)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Abdominal pain (HP:0002027)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: STAT3
Phenotype: Diarrhea (HP:0002014)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Dysphagia (HP:0002015)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Frontal bossing (HP:0002007)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)