TaoMedAI/RareMedData huggingface dataset:
Gene: SP110
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Pancytopenia (HP:0001876)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: IFNAR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 106, SUSCEPTIBILITY TO VIRAL INFECTIONS (OMIM:619935)
Gene: IFNAR1
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 106, SUSCEPTIBILITY TO VIRAL INFECTIONS (OMIM:619935)
Gene: IFNAR1
Phenotype: Post-vaccination measles (HP:0020088)
Associated disease: IMMUNODEFICIENCY 106, SUSCEPTIBILITY TO VIRAL INFECTIONS (OMIM:619935)
Gene: IFNAR1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: IMMUNODEFICIENCY 106, SUSCEPTIBILITY TO VIRAL INFECTIONS (OMIM:619935)
Gene: IFNAR1
Phenotype: Post-vaccination yellow fever (HP:0034310)
Associated disease: IMMUNODEFICIENCY 106, SUSCEPTIBILITY TO VIRAL INFECTIONS (OMIM:619935)
Gene: IFNAR2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 45 (OMIM:616669)
Gene: IFNAR2
Phenotype: Post-vaccination measles (HP:0020088)
Associated disease: IMMUNODEFICIENCY 45 (OMIM:616669)
Gene: IFNG
Phenotype: Poor speech (HP:0002465)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Noncommunicating hydrocephalus (HP:0010953)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Ungual fibroma (HP:0100804)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Seizure (HP:0001250)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Seizure (HP:0001250)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Intellectual disability (HP:0001249)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Confetti-like hypopigmented macules (HP:0007449)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Repetitive compulsive behavior (HP:0008762)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Specific learning disability (HP:0001328)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 69 (OMIM:618963)
Gene: IFNG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Pheochromocytoma (HP:0002666)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Hemophagocytosis (HP:0012156)
Associated disease: IMMUNODEFICIENCY 69 (OMIM:618963)
Gene: IFNG
Phenotype: Gingival fibromatosis (HP:0000169)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Renal cyst (HP:0000107)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Renal cyst (HP:0000107)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: IMMUNODEFICIENCY 69 (OMIM:618963)
Gene: IFNG
Phenotype: Hepatic cysts (HP:0001407)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: IFNG
Phenotype: Diarrhea (HP:0002014)
Associated disease: IMMUNODEFICIENCY 69 (OMIM:618963)
Gene: IFNG
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Carcinoid tumor (HP:0100570)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Parathyroid hyperplasia (HP:0008208)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Astrocytoma (HP:0009592)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Retinal hamartoma (HP:0009594)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Retinal hamartoma (HP:0009594)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Infantile onset (HP:0003593)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 69 (OMIM:618963)
Gene: IFNG
Phenotype: Impulsivity (HP:0100710)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Achromatic retinal patches (HP:0009727)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Cardiac rhabdomyoma (HP:0009729)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Cardiac rhabdomyoma (HP:0009729)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Optic nerve glioma (HP:0009734)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Cortical tubers (HP:0009717)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Cortical tubers (HP:0009717)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Subependymal nodules (HP:0009716)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Subependymal nodules (HP:0009716)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Hypomelanotic macule (HP:0009719)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Hypomelanotic macule (HP:0009719)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Subependymal giant-cell astrocytoma (HP:0009718)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Subependymal giant-cell astrocytoma (HP:0009718)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Adenoma sebaceum (HP:0009720)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Dental enamel pits (HP:0009722)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Shagreen patch (HP:0009721)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Shagreen patch (HP:0009721)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Subungual fibromas (HP:0009724)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Angiofibromas (HP:0010615)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Angiofibromas (HP:0010615)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: BCGitis (HP:0020086)
Associated disease: IMMUNODEFICIENCY 69 (OMIM:618963)
Gene: IFNG
Phenotype: BCGosis (HP:0020087)
Associated disease: IMMUNODEFICIENCY 69 (OMIM:618963)
Gene: IFNG
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Hemimegalencephaly (HP:0007206)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Skin plaque (HP:0200035)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Epidermoid cyst (HP:0200040)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Chordoma (HP:0010762)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: APLASTIC ANEMIA (OMIM:609135)
Gene: IFNG
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: IFNG
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Absence of renal corticomedullary differentiation (HP:0005564)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: IMMUNODEFICIENCY 69 (OMIM:618963)
Gene: IFNG
Phenotype: Fever (HP:0001945)
Associated disease: IMMUNODEFICIENCY 69 (OMIM:618963)
Gene: IFNG
Phenotype: Anemia (HP:0001903)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: IFNG
Phenotype: Anemia (HP:0001903)
Associated disease: IMMUNODEFICIENCY 69 (OMIM:618963)
Gene: IFNG
Phenotype: Aplastic anemia (HP:0001915)
Associated disease: APLASTIC ANEMIA (OMIM:609135)
Gene: IFNG
Phenotype: Generalized abnormality of skin (HP:0011354)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Second trimester onset (HP:0034198)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Anxiety (HP:0000739)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Depression (HP:0000716)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Autism (HP:0000717)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Autism (HP:0000717)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Pulmonary lymphangiomyomatosis (HP:0012798)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Pulmonary lymphangiomyomatosis (HP:0012798)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Retinal astrocytic hamartoma (HP:0012778)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Precocious puberty (HP:0000826)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Hypertension (HP:0000822)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Chorioretinal hypopigmentation (HP:0040030)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: IMMUNODEFICIENCY 69 (OMIM:618963)
Gene: IFNG
Phenotype: Skin rash (HP:0000988)
Associated disease: IMMUNODEFICIENCY 69 (OMIM:618963)
Gene: IFNG
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: IFNG
Phenotype: Parathyroid adenoma (HP:0002897)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Ependymoma (HP:0002888)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: IFNG
Phenotype: Ecchymosis (HP:0031364)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: IFNG
Phenotype: Failure to thrive (HP:0001508)
Associated disease: IMMUNODEFICIENCY 69 (OMIM:618963)
Gene: IFNG
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Internal hemorrhage (HP:0011029)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Hearing impairment (HP:0000365)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Bradycardia (HP:0001662)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Wolff-Parkinson-White syndrome (HP:0001716)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Infantile spasms (HP:0012469)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY 69 (OMIM:618963)
Gene: IFNG
Phenotype: Epistaxis (HP:0000421)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: IFNG
Phenotype: Pancreatic endocrine tumor (HP:0030405)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Renal angiomyolipoma (HP:0006772)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: IFNG
Phenotype: Renal angiomyolipoma (HP:0006772)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: IFNG
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: IMMUNODEFICIENCY 69 (OMIM:618963)
Gene: IFNG
Phenotype: Retinal hemorrhage (HP:0000573)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: IFNG
Phenotype: Reticulocytopenia (HP:0001896)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: IFNG
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: IFNG
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: IFNG
Phenotype: Pancytopenia (HP:0001876)
Associated disease: IMMUNODEFICIENCY 69 (OMIM:618963)
Gene: IFNG
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: IFNGR1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Glomerulopathy (HP:0100820)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Meningitis (HP:0001287)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Confusion (HP:0001289)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Seizure (HP:0001250)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Ataxia (HP:0001251)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Hypoplasia of the femoral head (HP:0008802)
Associated disease: IMMUNODEFICIENCY 27A (OMIM:209950)
Gene: IFNGR1
Phenotype: Arthritis (HP:0001369)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Epididymitis (HP:0000031)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 27A (OMIM:209950)
Gene: IFNGR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IMMUNODEFICIENCY 27B (OMIM:615978)
Gene: IFNGR1
Phenotype: Superficial thrombophlebitis (HP:0002638)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Vasculitis (HP:0002633)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Panuveitis (HP:0012121)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Abnormal bronchus physiology (HP:0025427)
Associated disease: IMMUNODEFICIENCY 27A (OMIM:209950)
Gene: IFNGR1
Phenotype: Generalized lymphadenopathy (HP:0008940)
Associated disease: IMMUNODEFICIENCY 27B (OMIM:615978)
Gene: IFNGR1
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: IMMUNODEFICIENCY 27B (OMIM:615978)
Gene: IFNGR1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: IMMUNODEFICIENCY 27A (OMIM:209950)
Gene: IFNGR1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IMMUNODEFICIENCY 27A (OMIM:209950)
Gene: IFNGR1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 27B (OMIM:615978)
Gene: IFNGR1
Phenotype: Malabsorption (HP:0002024)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Myalgia (HP:0003326)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Diarrhea (HP:0002014)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Diarrhea (HP:0002014)
Associated disease: IMMUNODEFICIENCY 27A (OMIM:209950)
Gene: IFNGR1
Phenotype: Pneumonia (HP:0002090)
Associated disease: IMMUNODEFICIENCY 27A (OMIM:209950)
Gene: IFNGR1
Phenotype: Migraine (HP:0002076)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Anorexia (HP:0002039)
Associated disease: IMMUNODEFICIENCY 27A (OMIM:209950)
Gene: IFNGR1
Phenotype: Anorexia (HP:0002039)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Endocarditis (HP:0100584)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Pleuritis (HP:0002102)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: IMMUNODEFICIENCY 27A (OMIM:209950)
Gene: IFNGR1
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Increased circulating IgM level (HP:0003496)
Associated disease: IMMUNODEFICIENCY 27A (OMIM:209950)
Gene: IFNGR1
Phenotype: Paresthesia (HP:0003401)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: IMMUNODEFICIENCY 27A (OMIM:209950)