TaoMedAI/RareMedData huggingface dataset:
Gene: STAT3
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Esophageal stricture (HP:0002043)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Addictive alcohol use (HP:0030955)
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: Anorexia (HP:0002039)
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: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STAT3
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Desquamative interstitial pneumonitis (HP:0005942)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 (OMIM:615952)
Gene: STAT3
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Esophageal ulceration (HP:0004791)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Bronchiectasis (HP:0002110)
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: Pleural empyema (HP:0011919)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Hypofibrinogenemia (HP:0011900)
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: Apraxia (HP:0002186)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Infantile onset (HP:0003593)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 (OMIM:615952)
Gene: STAT3
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Abnormal intestine morphology (HP:0002242)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 (OMIM:615952)
Gene: STAT3
Phenotype: Colonic diverticula (HP:0002253)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Recurrent respiratory infections (HP:0002205)
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: Atelectasis (HP:0100750)
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: Chest pain (HP:0100749)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Gangrene (HP:0100758)
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: Candida esophagitis (HP:0033351)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Odynophagia (HP:0032043)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Chiari type I malformation (HP:0007099)
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: Dystrophic fingernails (HP:0008391)
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: Vertigo (HP:0002321)
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: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STAT3
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 (OMIM:615952)
Gene: STAT3
Phenotype: Cellulitis (HP:0100658)
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: Skin vesicle (HP:0200037)
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: Papule (HP:0200034)
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: Metrorrhagia (HP:0100608)
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: Esophageal diverticulum (HP:0100628)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Skin ulcer (HP:0200042)
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: Erythema (HP:0010783)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STAT3
Phenotype: Neonatal onset (HP:0003623)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 (OMIM:615952)
Gene: STAT3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STAT3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 (OMIM:615952)
Gene: STAT3
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STAT3
Phenotype: Esophageal furrows (HP:0031858)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Disseminated intravascular coagulation (HP:0005521)
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: Chronic oral candidiasis (HP:0009098)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STAT3
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STAT3
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 (OMIM:615952)
Gene: STAT3
Phenotype: Increased total leukocyte count (HP:0001974)
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: Dehydration (HP:0001944)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Fever (HP:0001945)
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: Fever (HP:0001945)
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: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Autoimmune neutropenia (HP:0001904)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 (OMIM:615952)
Gene: STAT3
Phenotype: Anemia (HP:0001903)
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: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STAT3
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Generalized abnormality of skin (HP:0011354)
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: Delayed eruption of teeth (HP:0000684)
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: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STAT3
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Short stature (HP:0004322)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 (OMIM:615952)
Gene: STAT3
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 (OMIM:615952)
Gene: STAT3
Phenotype: Esophageal food impaction (HP:0031984)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Glycosuria (HP:0003076)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STAT3
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STAT3
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Cough (HP:0012735)
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: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Dentinogenesis imperfecta (HP:0000703)
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: Childhood onset (HP:0011463)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 (OMIM:615952)
Gene: STAT3
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Hematuria (HP:0000790)
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: Neurodevelopmental delay (HP:0012758)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Lower-limb joint contracture (HP:0005750)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 (OMIM:615952)
Gene: STAT3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STAT3
Phenotype: Neonatal insulin-dependent diabetes mellitus (HP:0000857)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 (OMIM:615952)
Gene: STAT3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STAT3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 (OMIM:615952)
Gene: STAT3
Phenotype: Stomatitis (HP:0010280)
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: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Increased circulating IgE concentration (HP:0003212)
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: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STAT3
Phenotype: Purpura (HP:0000979)
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: Bruising susceptibility (HP:0000978)
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: Pruritus (HP:0000989)
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: Skin rash (HP:0000988)
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: Skin rash (HP:0000988)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Eczematoid dermatitis (HP:0000964)
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: Eczematoid dermatitis (HP:0000964)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 (OMIM:615952)
Gene: STAT3
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Petechiae (HP:0000967)
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: Osteoporosis (HP:0000939)
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: Osteopenia (HP:0000938)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Osteopenia (HP:0000938)
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: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Abnormal hair morphology (HP:0001595)
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 face (HP:0000271)
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)