TaoMedAI/RareMedData huggingface dataset:
Gene: FAM20A
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IG (OMIM:204690)
Gene: FAM20A
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: Enamel-renal syndrome; Amelogenesis imperfecta-nephrocalcinosis syndrome (ORPHA:1031)
Gene: FAM20A
Phenotype: Hypocalciuria (HP:0003127)
Associated disease: Enamel-renal syndrome; Amelogenesis imperfecta-nephrocalcinosis syndrome (ORPHA:1031)
Gene: FAM20A
Phenotype: Overgrowth (HP:0001548)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IG (OMIM:204690)
Gene: FAM20A
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IG (OMIM:204690)
Gene: FAM20A
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Enamel-renal syndrome; Amelogenesis imperfecta-nephrocalcinosis syndrome (ORPHA:1031)
Gene: FAM20A
Phenotype: Abnormality of dental color (HP:0011073)
Associated disease: Enamel-renal syndrome; Amelogenesis imperfecta-nephrocalcinosis syndrome (ORPHA:1031)
Gene: FAM20A
Phenotype: Hypophosphaturia (HP:0012365)
Associated disease: Enamel-renal syndrome; Amelogenesis imperfecta-nephrocalcinosis syndrome (ORPHA:1031)
Gene: FAM20A
Phenotype: Increased circulating osteocalcin level (HP:0031428)
Associated disease: Enamel-renal syndrome; Amelogenesis imperfecta-nephrocalcinosis syndrome (ORPHA:1031)
Gene: TRIM44
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ANIRIDIA 3 (OMIM:617142)
Gene: TRIM44
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: TRIM44
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: ANIRIDIA 3 (OMIM:617142)
Gene: TRIM44
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: TRIM44
Phenotype: Microspherophakia (HP:0030961)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: TRIM44
Phenotype: Congenital onset (HP:0003577)
Associated disease: ANIRIDIA 3 (OMIM:617142)
Gene: TRIM44
Phenotype: Lens coloboma (HP:0100719)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: TRIM44
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: TRIM44
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: TRIM44
Phenotype: Limbal stem cell deficiency (HP:0032107)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: TRIM44
Phenotype: Nystagmus (HP:0000639)
Associated disease: ANIRIDIA 3 (OMIM:617142)
Gene: TRIM44
Phenotype: Nystagmus (HP:0000639)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: TRIM44
Phenotype: Red-green dyschromatopsia (HP:0000642)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: TRIM44
Phenotype: Photophobia (HP:0000613)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: TRIM44
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: TRIM44
Phenotype: Abnormal multifocal electroretinogram (HP:0030468)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: TRIM44
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: TRIM44
Phenotype: Peters anomaly (HP:0000659)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: TRIM44
Phenotype: Abnormal foveal pit on macular OCT (HP:0030622)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: TRIM44
Phenotype: Corneal neovascularization (HP:0011496)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: TRIM44
Phenotype: Aplasia/Hypoplasia of the macula (HP:0008059)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: TRIM44
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: TRIM44
Phenotype: Hypopigmentation of the fundus (HP:0007894)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: TRIM44
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: TRIM44
Phenotype: Strabismus (HP:0000486)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: TRIM44
Phenotype: Cataract (HP:0000518)
Associated disease: ANIRIDIA 3 (OMIM:617142)
Gene: TRIM44
Phenotype: Cataract (HP:0000518)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: TRIM44
Phenotype: Aniridia (HP:0000526)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: TRIM44
Phenotype: Aniridia (HP:0000526)
Associated disease: ANIRIDIA 3 (OMIM:617142)
Gene: TRIM44
Phenotype: Ptosis (HP:0000508)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: TRIM44
Phenotype: Glaucoma (HP:0000501)
Associated disease: ANIRIDIA 3 (OMIM:617142)
Gene: TRIM44
Phenotype: Glaucoma (HP:0000501)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: TRIM44
Phenotype: Visual loss (HP:0000572)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: TRIM44
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: BTG4
Phenotype: Abnormal circulating estrogen level (HP:0025132)
Associated disease: OOCYTE MATURATION DEFECT 8 (OMIM:619009)
Gene: BTG4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OOCYTE MATURATION DEFECT 8 (OMIM:619009)
Gene: BTG4
Phenotype: Abnormality of the menstrual cycle (HP:0000140)
Associated disease: OOCYTE MATURATION DEFECT 8 (OMIM:619009)
Gene: BTG4
Phenotype: Female infertility (HP:0008222)
Associated disease: OOCYTE MATURATION DEFECT 8 (OMIM:619009)
Gene: BTG4
Phenotype: Zygotic cleavage failure (HP:0033336)
Associated disease: OOCYTE MATURATION DEFECT 8 (OMIM:619009)
Gene: HYDIN
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Bronchial wall thickening (HP:0033542)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 5 (OMIM:608647)
Gene: HYDIN
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 5 (OMIM:608647)
Gene: HYDIN
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 5 (OMIM:608647)
Gene: HYDIN
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 5 (OMIM:608647)
Gene: HYDIN
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 5 (OMIM:608647)
Gene: HYDIN
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Infantile onset (HP:0003593)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 5 (OMIM:608647)
Gene: HYDIN
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 5 (OMIM:608647)
Gene: HYDIN
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 5 (OMIM:608647)
Gene: HYDIN
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Respiratory insufficiency due to defective ciliary clearance (HP:0200073)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 5 (OMIM:608647)
Gene: HYDIN
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 5 (OMIM:608647)
Gene: HYDIN
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 5 (OMIM:608647)
Gene: HYDIN
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Childhood onset (HP:0011463)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 5 (OMIM:608647)
Gene: HYDIN
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Chronic bronchitis (HP:0004469)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 5 (OMIM:608647)
Gene: HYDIN
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Ciliary dyskinesia (HP:0012265)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 5 (OMIM:608647)
Gene: HYDIN
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 5 (OMIM:608647)
Gene: HYDIN
Phenotype: Respiratory failure (HP:0002878)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 5 (OMIM:608647)
Gene: HYDIN
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 5 (OMIM:608647)
Gene: HYDIN
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 5 (OMIM:608647)
Gene: HYDIN
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 5 (OMIM:608647)
Gene: HYDIN
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 5 (OMIM:608647)
Gene: HYDIN
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HYDIN
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TET2
Phenotype: Constitutional symptom (HP:0025142)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: TET2
Phenotype: Constitutional symptom (HP:0025142)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: TET2
Phenotype: Acute leukemia (HP:0002488)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: TET2
Phenotype: Syncope (HP:0001279)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: TET2
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: TET2
Phenotype: Anaphylactic shock (HP:0100845)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: TET2
Phenotype: Chronic infection (HP:0031035)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: TET2
Phenotype: Anemia of inadequate production (HP:0010972)
Associated disease: Refractory anemia; Myelodysplastic neoplasm with low blasts; MDS-LB (ORPHA:98826)
Gene: TET2
Phenotype: Anemia of inadequate production (HP:0010972)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: TET2
Phenotype: Bone marrow hypercellularity (HP:0031020)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: TET2
Phenotype: Bone marrow hypercellularity (HP:0031020)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: TET2
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: TET2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 75 (OMIM:619126)
Gene: TET2
Phenotype: Lymphoma (HP:0002665)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: TET2
Phenotype: Lymphoma (HP:0002665)
Associated disease: IMMUNODEFICIENCY 75 (OMIM:619126)
Gene: TET2
Phenotype: Bone pain (HP:0002653)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: TET2
Phenotype: Bone pain (HP:0002653)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: TET2
Phenotype: Hypotension (HP:0002615)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: TET2
Phenotype: Hypotension (HP:0002615)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: TET2
Phenotype: Single lineage myelodysplasia (HP:0012150)
Associated disease: Refractory anemia; Myelodysplastic neoplasm with low blasts; MDS-LB (ORPHA:98826)
Gene: TET2
Phenotype: Dysplastic granulopoesis (HP:0012136)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: TET2
Phenotype: Abnormal number of granulocyte precursors (HP:0012137)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: TET2
Phenotype: Granulocytic hyperplasia (HP:0012138)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: TET2
Phenotype: Abnormal megakaryocyte morphology (HP:0012143)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: TET2
Phenotype: Abnormal megakaryocyte morphology (HP:0012143)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: TET2
Phenotype: Erythroid hyperplasia (HP:0012132)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: TET2
Phenotype: Erythroid hypoplasia (HP:0012133)
Associated disease: Refractory anemia; Myelodysplastic neoplasm with low blasts; MDS-LB (ORPHA:98826)
Gene: TET2
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: TET2
Phenotype: Osteolysis (HP:0002797)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: TET2
Phenotype: Flushing (HP:0031284)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: TET2
Phenotype: Flushing (HP:0031284)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: TET2
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: TET2
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: MYELODYSPLASTIC SYNDROME (OMIM:614286)
Gene: TET2
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: TET2
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: TET2
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: IMMUNODEFICIENCY 75 (OMIM:619126)
Gene: TET2
Phenotype: Decreased liver function (HP:0001410)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: TET2
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: TET2
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: TET2
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: TET2
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: TET2
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: TET2
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IMMUNODEFICIENCY 75 (OMIM:619126)
Gene: TET2
Phenotype: Follicular hyperplasia (HP:0002729)
Associated disease: IMMUNODEFICIENCY 75 (OMIM:619126)
Gene: TET2
Phenotype: Malabsorption (HP:0002024)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: TET2
Phenotype: Nausea (HP:0002018)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: TET2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: TET2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: TET2
Phenotype: Myalgia (HP:0003326)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: TET2
Phenotype: Diarrhea (HP:0002014)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: TET2
Phenotype: Diarrhea (HP:0002014)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: TET2
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: TET2
Phenotype: Dyspnea (HP:0002094)
Associated disease: Refractory anemia; Myelodysplastic neoplasm with low blasts; MDS-LB (ORPHA:98826)
Gene: TET2
Phenotype: Migraine (HP:0002076)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: TET2
Phenotype: Anorexia (HP:0002039)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: TET2
Phenotype: Anorexia (HP:0002039)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)