TaoMedAI/RareMedData huggingface dataset:
Gene: MOG
Phenotype: Hypertension (HP:0000822)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: MOG
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: MOG
Phenotype: Female sexual dysfunction (HP:0030014)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: MOG
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: NARCOLEPSY 7 (OMIM:614250)
Gene: MOG
Phenotype: Narcolepsy (HP:0030050)
Associated disease: NARCOLEPSY 7 (OMIM:614250)
Gene: MOG
Phenotype: Obesity (HP:0001513)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: MOG
Phenotype: Obesity (HP:0001513)
Associated disease: NARCOLEPSY 7 (OMIM:614250)
Gene: MOG
Phenotype: Restless legs (HP:0012452)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: MOS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 20 (OMIM:620383)
Gene: MOS
Phenotype: Amenorrhea (HP:0000141)
Associated disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 20 (OMIM:620383)
Gene: MOS
Phenotype: Female infertility (HP:0008222)
Associated disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 20 (OMIM:620383)
Gene: MOS
Phenotype: Young adult onset (HP:0011462)
Associated disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 20 (OMIM:620383)
Gene: MPI
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib (OMIM:602579)
Gene: MPI
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib (OMIM:602579)
Gene: MPI
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Phosphomannose isomerase deficiency; Carbohydrate deficient glycoprotein syndrome type Ib; Congenital disorder of glycosylation type 1b; MPI-CDG; Congenital disorder of glycosylation type Ib; CDG syndrome type Ib; CDG1B; CDG-Ib (ORPHA:79319)
Gene: MPI
Phenotype: Steatorrhea (HP:0002570)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib (OMIM:602579)
Gene: MPI
Phenotype: Death in childhood (HP:0003819)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib (OMIM:602579)
Gene: MPI
Phenotype: Hepatic failure (HP:0001399)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib (OMIM:602579)
Gene: MPI
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: Phosphomannose isomerase deficiency; Carbohydrate deficient glycoprotein syndrome type Ib; Congenital disorder of glycosylation type 1b; MPI-CDG; Congenital disorder of glycosylation type Ib; CDG syndrome type Ib; CDG1B; CDG-Ib (ORPHA:79319)
Gene: MPI
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib (OMIM:602579)
Gene: MPI
Phenotype: Cirrhosis (HP:0001394)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib (OMIM:602579)
Gene: MPI
Phenotype: Reduced tissue phosphomannose isomerase activity (HP:6000782)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib (OMIM:602579)
Gene: MPI
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib (OMIM:602579)
Gene: MPI
Phenotype: Proximal tubulopathy (HP:0000114)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib (OMIM:602579)
Gene: MPI
Phenotype: Renal cyst (HP:0000107)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib (OMIM:602579)
Gene: MPI
Phenotype: Decreased liver function (HP:0001410)
Associated disease: Phosphomannose isomerase deficiency; Carbohydrate deficient glycoprotein syndrome type Ib; Congenital disorder of glycosylation type 1b; MPI-CDG; Congenital disorder of glycosylation type Ib; CDG syndrome type Ib; CDG1B; CDG-Ib (ORPHA:79319)
Gene: MPI
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Phosphomannose isomerase deficiency; Carbohydrate deficient glycoprotein syndrome type Ib; Congenital disorder of glycosylation type 1b; MPI-CDG; Congenital disorder of glycosylation type Ib; CDG syndrome type Ib; CDG1B; CDG-Ib (ORPHA:79319)
Gene: MPI
Phenotype: Diarrhea (HP:0002014)
Associated disease: Phosphomannose isomerase deficiency; Carbohydrate deficient glycoprotein syndrome type Ib; Congenital disorder of glycosylation type 1b; MPI-CDG; Congenital disorder of glycosylation type Ib; CDG syndrome type Ib; CDG1B; CDG-Ib (ORPHA:79319)
Gene: MPI
Phenotype: Diarrhea (HP:0002014)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib (OMIM:602579)
Gene: MPI
Phenotype: Vomiting (HP:0002013)
Associated disease: Phosphomannose isomerase deficiency; Carbohydrate deficient glycoprotein syndrome type Ib; Congenital disorder of glycosylation type 1b; MPI-CDG; Congenital disorder of glycosylation type Ib; CDG syndrome type Ib; CDG1B; CDG-Ib (ORPHA:79319)
Gene: MPI
Phenotype: Vomiting (HP:0002013)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib (OMIM:602579)
Gene: MPI
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib (OMIM:602579)
Gene: MPI
Phenotype: Protein-losing enteropathy (HP:0002243)
Associated disease: Phosphomannose isomerase deficiency; Carbohydrate deficient glycoprotein syndrome type Ib; Congenital disorder of glycosylation type 1b; MPI-CDG; Congenital disorder of glycosylation type Ib; CDG syndrome type Ib; CDG1B; CDG-Ib (ORPHA:79319)
Gene: MPI
Phenotype: Protein-losing enteropathy (HP:0002243)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib (OMIM:602579)
Gene: MPI
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Phosphomannose isomerase deficiency; Carbohydrate deficient glycoprotein syndrome type Ib; Congenital disorder of glycosylation type 1b; MPI-CDG; Congenital disorder of glycosylation type Ib; CDG syndrome type Ib; CDG1B; CDG-Ib (ORPHA:79319)
Gene: MPI
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib (OMIM:602579)
Gene: MPI
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Phosphomannose isomerase deficiency; Carbohydrate deficient glycoprotein syndrome type Ib; Congenital disorder of glycosylation type 1b; MPI-CDG; Congenital disorder of glycosylation type Ib; CDG syndrome type Ib; CDG1B; CDG-Ib (ORPHA:79319)
Gene: MPI
Phenotype: Reduced protein S activity (HP:0004855)
Associated disease: Phosphomannose isomerase deficiency; Carbohydrate deficient glycoprotein syndrome type Ib; Congenital disorder of glycosylation type 1b; MPI-CDG; Congenital disorder of glycosylation type Ib; CDG syndrome type Ib; CDG1B; CDG-Ib (ORPHA:79319)
Gene: MPI
Phenotype: Type I transferrin isoform profile (HP:0003642)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib (OMIM:602579)
Gene: MPI
Phenotype: Reduced protein C activity (HP:0005543)
Associated disease: Phosphomannose isomerase deficiency; Carbohydrate deficient glycoprotein syndrome type Ib; Congenital disorder of glycosylation type 1b; MPI-CDG; Congenital disorder of glycosylation type Ib; CDG syndrome type Ib; CDG1B; CDG-Ib (ORPHA:79319)
Gene: MPI
Phenotype: Lymphangiectasis (HP:0031842)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib (OMIM:602579)
Gene: MPI
Phenotype: Abnormal thrombosis (HP:0001977)
Associated disease: Phosphomannose isomerase deficiency; Carbohydrate deficient glycoprotein syndrome type Ib; Congenital disorder of glycosylation type 1b; MPI-CDG; Congenital disorder of glycosylation type Ib; CDG syndrome type Ib; CDG1B; CDG-Ib (ORPHA:79319)
Gene: MPI
Phenotype: Abnormal thrombosis (HP:0001977)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib (OMIM:602579)
Gene: MPI
Phenotype: Reduced antithrombin III activity (HP:0001976)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib (OMIM:602579)
Gene: MPI
Phenotype: Reduced factor XI activity (HP:0001929)
Associated disease: Phosphomannose isomerase deficiency; Carbohydrate deficient glycoprotein syndrome type Ib; Congenital disorder of glycosylation type 1b; MPI-CDG; Congenital disorder of glycosylation type Ib; CDG syndrome type Ib; CDG1B; CDG-Ib (ORPHA:79319)
Gene: MPI
Phenotype: Reduced factor XI activity (HP:0001929)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib (OMIM:602579)
Gene: MPI
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Phosphomannose isomerase deficiency; Carbohydrate deficient glycoprotein syndrome type Ib; Congenital disorder of glycosylation type 1b; MPI-CDG; Congenital disorder of glycosylation type Ib; CDG syndrome type Ib; CDG1B; CDG-Ib (ORPHA:79319)
Gene: MPI
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib (OMIM:602579)
Gene: MPI
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Phosphomannose isomerase deficiency; Carbohydrate deficient glycoprotein syndrome type Ib; Congenital disorder of glycosylation type 1b; MPI-CDG; Congenital disorder of glycosylation type Ib; CDG syndrome type Ib; CDG1B; CDG-Ib (ORPHA:79319)
Gene: MPI
Phenotype: Villous atrophy (HP:0011473)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib (OMIM:602579)
Gene: MPI
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: Phosphomannose isomerase deficiency; Carbohydrate deficient glycoprotein syndrome type Ib; Congenital disorder of glycosylation type 1b; MPI-CDG; Congenital disorder of glycosylation type Ib; CDG syndrome type Ib; CDG1B; CDG-Ib (ORPHA:79319)
Gene: MPI
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib (OMIM:602579)
Gene: MPI
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Phosphomannose isomerase deficiency; Carbohydrate deficient glycoprotein syndrome type Ib; Congenital disorder of glycosylation type 1b; MPI-CDG; Congenital disorder of glycosylation type Ib; CDG syndrome type Ib; CDG1B; CDG-Ib (ORPHA:79319)
Gene: MPI
Phenotype: Reduced antithrombin antigen (HP:0040246)
Associated disease: Phosphomannose isomerase deficiency; Carbohydrate deficient glycoprotein syndrome type Ib; Congenital disorder of glycosylation type 1b; MPI-CDG; Congenital disorder of glycosylation type Ib; CDG syndrome type Ib; CDG1B; CDG-Ib (ORPHA:79319)
Gene: MPI
Phenotype: Abnormality of the coagulation cascade (HP:0003256)
Associated disease: Phosphomannose isomerase deficiency; Carbohydrate deficient glycoprotein syndrome type Ib; Congenital disorder of glycosylation type 1b; MPI-CDG; Congenital disorder of glycosylation type Ib; CDG syndrome type Ib; CDG1B; CDG-Ib (ORPHA:79319)
Gene: MPI
Phenotype: Edema (HP:0000969)
Associated disease: Phosphomannose isomerase deficiency; Carbohydrate deficient glycoprotein syndrome type Ib; Congenital disorder of glycosylation type 1b; MPI-CDG; Congenital disorder of glycosylation type Ib; CDG syndrome type Ib; CDG1B; CDG-Ib (ORPHA:79319)
Gene: MPI
Phenotype: Edema (HP:0000969)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib (OMIM:602579)
Gene: MPI
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib (OMIM:602579)
Gene: MPI
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Phosphomannose isomerase deficiency; Carbohydrate deficient glycoprotein syndrome type Ib; Congenital disorder of glycosylation type 1b; MPI-CDG; Congenital disorder of glycosylation type Ib; CDG syndrome type Ib; CDG1B; CDG-Ib (ORPHA:79319)
Gene: MPI
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Phosphomannose isomerase deficiency; Carbohydrate deficient glycoprotein syndrome type Ib; Congenital disorder of glycosylation type 1b; MPI-CDG; Congenital disorder of glycosylation type Ib; CDG syndrome type Ib; CDG1B; CDG-Ib (ORPHA:79319)
Gene: MPI
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib (OMIM:602579)
Gene: MPL
Phenotype: Constitutional symptom (HP:0025142)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Acute leukemia (HP:0002488)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: MPL
Phenotype: Visual field defect (HP:0001123)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: MPL
Phenotype: Syncope (HP:0001279)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: MPL
Phenotype: Seizure (HP:0001250)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: MPL
Phenotype: Dysarthria (HP:0001260)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: MPL
Phenotype: Bone marrow hypercellularity (HP:0031020)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL (OMIM:604498)
Gene: MPL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THROMBOCYTHEMIA 2 (OMIM:601977)
Gene: MPL
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: MPL
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL (OMIM:604498)
Gene: MPL
Phenotype: Scoliosis (HP:0002650)
Associated disease: Congenital amegakaryocytic thrombocytopenia; CAMT (ORPHA:3319)
Gene: MPL
Phenotype: Hemophagocytosis (HP:0012156)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: MPL
Phenotype: Abnormal megakaryocyte morphology (HP:0012143)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: THROMBOCYTHEMIA 2 (OMIM:601977)
Gene: MPL
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: MPL
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Congenital amegakaryocytic thrombocytopenia; CAMT (ORPHA:3319)
Gene: MPL
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: MPL
Phenotype: Migraine (HP:0002076)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: MPL
Phenotype: Anorexia (HP:0002039)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: MPL
Phenotype: Abnormal hemoglobin (HP:0011902)
Associated disease: Congenital amegakaryocytic thrombocytopenia; CAMT (ORPHA:3319)
Gene: MPL
Phenotype: Abnormal platelet morphology (HP:0011875)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: MPL
Phenotype: Paresthesia (HP:0003401)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: MPL
Phenotype: Paresthesia (HP:0003401)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: MPL
Phenotype: Infantile onset (HP:0003593)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: MPL
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: MPL
Phenotype: Amegakaryocytic thrombocytopenia (HP:0004859)
Associated disease: AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL (OMIM:604498)
Gene: MPL
Phenotype: Insomnia (HP:0100785)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: MPL
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: MPL
Phenotype: Chest pain (HP:0100749)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: MPL
Phenotype: Myelofibrosis (HP:0011974)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: MPL
Phenotype: Myelofibrosis (HP:0011974)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: MPL
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: MPL
Phenotype: Hemangioma (HP:0001028)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Vertigo (HP:0002321)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: MPL
Phenotype: Vertigo (HP:0002321)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: MPL
Phenotype: Headache (HP:0002315)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: MPL
Phenotype: Headache (HP:0002315)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: MPL
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: MPL
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: MPL
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: MPL
Phenotype: Erythromelalgia (HP:0032147)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: MPL
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: MPL
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: MPL
Phenotype: Peripheral arterial stenosis (HP:0004950)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: MPL
Phenotype: Increased megakaryocyte count (HP:0005513)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: MPL
Phenotype: Increased megakaryocyte count (HP:0005513)
Associated disease: THROMBOCYTHEMIA 2 (OMIM:601977)
Gene: MPL
Phenotype: Chronic myelogenous leukemia (HP:0005506)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: MPL
Phenotype: Megakaryocytopenia (HP:0005548)
Associated disease: AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL (OMIM:604498)
Gene: MPL
Phenotype: Myeloproliferative disorder (HP:0005547)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: MPL
Phenotype: Abnormal bone marrow cell morphology (HP:0005561)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Abnormal bone marrow cell morphology (HP:0005561)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: MPL
Phenotype: Abnormal thrombosis (HP:0001977)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Extramedullary hematopoiesis (HP:0001978)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: MPL
Phenotype: Extramedullary hematopoiesis (HP:0001978)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: MPL
Phenotype: Fever (HP:0001945)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Fever (HP:0001945)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: MPL
Phenotype: Anemia (HP:0001903)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Anemia (HP:0001903)
Associated disease: Congenital amegakaryocytic thrombocytopenia; CAMT (ORPHA:3319)
Gene: MPL
Phenotype: Short stature (HP:0004322)
Associated disease: Congenital amegakaryocytic thrombocytopenia; CAMT (ORPHA:3319)
Gene: MPL
Phenotype: Decreased skull ossification (HP:0004331)
Associated disease: Congenital amegakaryocytic thrombocytopenia; CAMT (ORPHA:3319)
Gene: MPL
Phenotype: Cachexia (HP:0004326)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Hematological neoplasm (HP:0004377)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: MPL
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)