TaoMedAI/RareMedData huggingface dataset:
Gene: TET2
Phenotype: Normochromic anemia (HP:0001895)
Associated disease: Refractory anemia; Myelodysplastic neoplasm with low blasts; MDS-LB (ORPHA:98826)
Gene: TET2
Phenotype: Normochromic anemia (HP:0001895)
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: Normochromic anemia (HP:0001895)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: TET2
Phenotype: Normocytic anemia (HP:0001897)
Associated disease: Refractory anemia; Myelodysplastic neoplasm with low blasts; MDS-LB (ORPHA:98826)
Gene: TET2
Phenotype: Normocytic anemia (HP:0001897)
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: Normocytic anemia (HP:0001897)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: TET2
Phenotype: Abnormality of thrombocytes (HP:0001872)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: TET2
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: TET2
Phenotype: Increased total eosinophil count (HP:0001880)
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: Thrombocytopenia (HP:0001873)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: TET2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: TET2
Phenotype: Thrombocytopenia (HP:0001873)
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: Thrombocytopenia (HP:0001873)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: TET2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Refractory anemia; Myelodysplastic neoplasm with low blasts; MDS-LB (ORPHA:98826)
Gene: TET2
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: TET2
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: TET2
Phenotype: Pancytopenia (HP:0001876)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: TET2
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: TET2
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Refractory anemia; Myelodysplastic neoplasm with low blasts; MDS-LB (ORPHA:98826)
Gene: TET2
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: TRPM4
Phenotype: Syncope (HP:0001279)
Associated disease: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB (OMIM:604559)
Gene: TRPM4
Phenotype: Syncope (HP:0001279)
Associated disease: Familial progressive cardiac conduction defect; Familial Lev disease; Familial progressive heart block; Familial Lenègre disease; Familial Lev-Lenègre disease; Familial PCCD; Hereditary bundle branch defect (ORPHA:871)
Gene: TRPM4
Phenotype: Syncope (HP:0001279)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: TRPM4
Phenotype: Superficial dermal perivascular inflammatory infiltrate (HP:0031190)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6 (OMIM:618531)
Gene: TRPM4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB (OMIM:604559)
Gene: TRPM4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TRPM4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6 (OMIM:618531)
Gene: TRPM4
Phenotype: Erythematous plaque (HP:0025474)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6 (OMIM:618531)
Gene: TRPM4
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Familial progressive cardiac conduction defect; Familial Lev disease; Familial progressive heart block; Familial Lenègre disease; Familial Lev-Lenègre disease; Familial PCCD; Hereditary bundle branch defect (ORPHA:871)
Gene: TRPM4
Phenotype: Dyspnea (HP:0002094)
Associated disease: Familial progressive cardiac conduction defect; Familial Lev disease; Familial progressive heart block; Familial Lenègre disease; Familial Lev-Lenègre disease; Familial PCCD; Hereditary bundle branch defect (ORPHA:871)
Gene: TRPM4
Phenotype: Trifascicular block (HP:0011715)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: TRPM4
Phenotype: Left anterior fascicular block (HP:0011711)
Associated disease: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB (OMIM:604559)
Gene: TRPM4
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB (OMIM:604559)
Gene: TRPM4
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: TRPM4
Phenotype: Bundle branch block (HP:0011710)
Associated disease: Familial progressive cardiac conduction defect; Familial Lev disease; Familial progressive heart block; Familial Lenègre disease; Familial Lev-Lenègre disease; Familial PCCD; Hereditary bundle branch defect (ORPHA:871)
Gene: TRPM4
Phenotype: Sick sinus syndrome (HP:0011704)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: TRPM4
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: TRPM4
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: TRPM4
Phenotype: Paroxysmal ventricular tachycardia (HP:0004751)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: TRPM4
Phenotype: Infantile onset (HP:0003593)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6 (OMIM:618531)
Gene: TRPM4
Phenotype: Parakeratosis (HP:0001036)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6 (OMIM:618531)
Gene: TRPM4
Phenotype: Vertigo (HP:0002321)
Associated disease: Familial progressive cardiac conduction defect; Familial Lev disease; Familial progressive heart block; Familial Lenègre disease; Familial Lev-Lenègre disease; Familial PCCD; Hereditary bundle branch defect (ORPHA:871)
Gene: TRPM4
Phenotype: Skin plaque (HP:0200035)
Associated disease: Erythrokeratodermia progressiva symmetrica; Progressive symmetric erythrokeratodermia; Progressive symmetric erythrokeratodermia, Gottron type; Darier-Gottron disease (ORPHA:316)
Gene: TRPM4
Phenotype: Erythema (HP:0010783)
Associated disease: Erythrokeratodermia progressiva symmetrica; Progressive symmetric erythrokeratodermia; Progressive symmetric erythrokeratodermia, Gottron type; Darier-Gottron disease (ORPHA:316)
Gene: TRPM4
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: TRPM4
Phenotype: Heart block (HP:0012722)
Associated disease: Familial progressive cardiac conduction defect; Familial Lev disease; Familial progressive heart block; Familial Lenègre disease; Familial Lev-Lenègre disease; Familial PCCD; Hereditary bundle branch defect (ORPHA:871)
Gene: TRPM4
Phenotype: Pruritus (HP:0000989)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6 (OMIM:618531)
Gene: TRPM4
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Erythrokeratodermia progressiva symmetrica; Progressive symmetric erythrokeratodermia; Progressive symmetric erythrokeratodermia, Gottron type; Darier-Gottron disease (ORPHA:316)
Gene: TRPM4
Phenotype: Arrhythmia (HP:0011675)
Associated disease: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB (OMIM:604559)
Gene: TRPM4
Phenotype: Arrhythmia (HP:0011675)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6 (OMIM:618531)
Gene: TRPM4
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial progressive cardiac conduction defect; Familial Lev disease; Familial progressive heart block; Familial Lenègre disease; Familial Lev-Lenègre disease; Familial PCCD; Hereditary bundle branch defect (ORPHA:871)
Gene: TRPM4
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TRPM4
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6 (OMIM:618531)
Gene: TRPM4
Phenotype: ST segment elevation (HP:0012251)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: TRPM4
Phenotype: Shortened PR interval (HP:0005165)
Associated disease: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB (OMIM:604559)
Gene: TRPM4
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6 (OMIM:618531)
Gene: TRPM4
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: TRPM4
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TRPM4
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB (OMIM:604559)
Gene: TRPM4
Phenotype: Tachycardia (HP:0001649)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: TRPM4
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TRPM4
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: TRPM4
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TRPM4
Phenotype: Bradycardia (HP:0001662)
Associated disease: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB (OMIM:604559)
Gene: TRPM4
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB (OMIM:604559)
Gene: TRPM4
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial progressive cardiac conduction defect; Familial Lev disease; Familial progressive heart block; Familial Lenègre disease; Familial Lev-Lenègre disease; Familial PCCD; Hereditary bundle branch defect (ORPHA:871)
Gene: TRPM4
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TRPM4
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: BNC2
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Posterior urethral valve; PUV (ORPHA:93110)
Gene: BNC2
Phenotype: Congenital posterior urethral valve (HP:0010957)
Associated disease: LOWER URINARY TRACT OBSTRUCTION, CONGENITAL (OMIM:618612)
Gene: BNC2
Phenotype: Congenital posterior urethral valve (HP:0010957)
Associated disease: Posterior urethral valve; PUV (ORPHA:93110)
Gene: BNC2
Phenotype: Fetal pyelectasis (HP:0010945)
Associated disease: Posterior urethral valve; PUV (ORPHA:93110)
Gene: BNC2
Phenotype: Lethargy (HP:0001254)
Associated disease: Posterior urethral valve; PUV (ORPHA:93110)
Gene: BNC2
Phenotype: Unilateral renal dysplasia (HP:0008718)
Associated disease: Posterior urethral valve; PUV (ORPHA:93110)
Gene: BNC2
Phenotype: Urethral stenosis (HP:0008661)
Associated disease: LOWER URINARY TRACT OBSTRUCTION, CONGENITAL (OMIM:618612)
Gene: BNC2
Phenotype: Urethral stenosis (HP:0008661)
Associated disease: Posterior urethral valve; PUV (ORPHA:93110)
Gene: BNC2
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Posterior urethral valve; PUV (ORPHA:93110)
Gene: BNC2
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Posterior urethral valve; PUV (ORPHA:93110)
Gene: BNC2
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: LOWER URINARY TRACT OBSTRUCTION, CONGENITAL (OMIM:618612)
Gene: BNC2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Posterior urethral valve; PUV (ORPHA:93110)
Gene: BNC2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: LOWER URINARY TRACT OBSTRUCTION, CONGENITAL (OMIM:618612)
Gene: BNC2
Phenotype: Urinary retention (HP:0000016)
Associated disease: Posterior urethral valve; PUV (ORPHA:93110)
Gene: BNC2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Posterior urethral valve; PUV (ORPHA:93110)
Gene: BNC2
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Posterior urethral valve; PUV (ORPHA:93110)
Gene: BNC2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LOWER URINARY TRACT OBSTRUCTION, CONGENITAL (OMIM:618612)
Gene: BNC2
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Posterior urethral valve; PUV (ORPHA:93110)
Gene: BNC2
Phenotype: Pollakisuria (HP:0100515)
Associated disease: LOWER URINARY TRACT OBSTRUCTION, CONGENITAL (OMIM:618612)
Gene: BNC2
Phenotype: Dysuria (HP:0100518)
Associated disease: Posterior urethral valve; PUV (ORPHA:93110)
Gene: BNC2
Phenotype: Enuresis nocturna (HP:0010677)
Associated disease: Posterior urethral valve; PUV (ORPHA:93110)
Gene: BNC2
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Posterior urethral valve; PUV (ORPHA:93110)
Gene: BNC2
Phenotype: Hypertension (HP:0000822)
Associated disease: Posterior urethral valve; PUV (ORPHA:93110)
Gene: BNC2
Phenotype: Retrognathia (HP:0000278)
Associated disease: Posterior urethral valve; PUV (ORPHA:93110)
Gene: BNC2
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Posterior urethral valve; PUV (ORPHA:93110)
Gene: BNC2
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Posterior urethral valve; PUV (ORPHA:93110)
Gene: BNC2
Phenotype: Pyelonephritis (HP:0012330)
Associated disease: Posterior urethral valve; PUV (ORPHA:93110)
Gene: BNC2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Posterior urethral valve; PUV (ORPHA:93110)
Gene: KLHL24
Phenotype: Diffuse palmoplantar hyperkeratosis (HP:0007447)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS (OMIM:617294)
Gene: KLHL24
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 29, WITH POLYGLUCOSAN BODIES (OMIM:620236)
Gene: KLHL24
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 29, WITH POLYGLUCOSAN BODIES (OMIM:620236)
Gene: KLHL24
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS (OMIM:617294)
Gene: KLHL24
Phenotype: Dyspnea (HP:0002094)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 29, WITH POLYGLUCOSAN BODIES (OMIM:620236)
Gene: KLHL24
Phenotype: Increased myocardial glycogen content (HP:0034532)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 29, WITH POLYGLUCOSAN BODIES (OMIM:620236)
Gene: KLHL24
Phenotype: Congenital onset (HP:0003577)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS (OMIM:617294)
Gene: KLHL24
Phenotype: Sparse body hair (HP:0002231)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS (OMIM:617294)
Gene: KLHL24
Phenotype: Onychogryphosis of toenails (HP:0008401)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS (OMIM:617294)
Gene: KLHL24
Phenotype: Left ventricular outflow tract obstruction (HP:0032092)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 29, WITH POLYGLUCOSAN BODIES (OMIM:620236)
Gene: KLHL24
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS (OMIM:617294)
Gene: KLHL24
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS (OMIM:617294)
Gene: KLHL24
Phenotype: Palpitations (HP:0001962)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 29, WITH POLYGLUCOSAN BODIES (OMIM:620236)
Gene: KLHL24
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS (OMIM:617294)
Gene: KLHL24
Phenotype: Young adult onset (HP:0011462)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 29, WITH POLYGLUCOSAN BODIES (OMIM:620236)
Gene: KLHL24
Phenotype: Reduced left ventricular endsystolic diameter (HP:0034386)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 29, WITH POLYGLUCOSAN BODIES (OMIM:620236)
Gene: KLHL24
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS (OMIM:617294)
Gene: KLHL24
Phenotype: Alopecia (HP:0001596)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS (OMIM:617294)
Gene: KLHL24
Phenotype: Cardiomyocyte hypertrophy (HP:0031319)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 29, WITH POLYGLUCOSAN BODIES (OMIM:620236)
Gene: KLHL24
Phenotype: Asymmetric septal hypertrophy (HP:0001670)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 29, WITH POLYGLUCOSAN BODIES (OMIM:620236)
Gene: KLHL24
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 29, WITH POLYGLUCOSAN BODIES (OMIM:620236)
Gene: KLHL24
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 29, WITH POLYGLUCOSAN BODIES (OMIM:620236)
Gene: KLHL24
Phenotype: Systolic anterior motion of the mitral valve (HP:0031656)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 29, WITH POLYGLUCOSAN BODIES (OMIM:620236)
Gene: KLHL24
Phenotype: Dystrophic toenail (HP:0001810)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS (OMIM:617294)
Gene: TRIT1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 (OMIM:617873)
Gene: TRIT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 (OMIM:617873)
Gene: TRIT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 (OMIM:617873)
Gene: TRIT1
Phenotype: Spasticity (HP:0001257)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 (OMIM:617873)
Gene: TRIT1
Phenotype: Dystonia (HP:0001332)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 (OMIM:617873)
Gene: TRIT1
Phenotype: Absent speech (HP:0001344)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 (OMIM:617873)
Gene: TRIT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 (OMIM:617873)
Gene: TRIT1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 (OMIM:617873)
Gene: TRIT1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 (OMIM:617873)
Gene: TRIT1
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 (OMIM:617873)
Gene: TRIT1
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 (OMIM:617873)
Gene: TRIT1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 (OMIM:617873)
Gene: TRIT1
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 (OMIM:617873)
Gene: TRIT1
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 (OMIM:617873)
Gene: TRIT1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 (OMIM:617873)
Gene: TRIT1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 (OMIM:617873)
Gene: TRIT1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 (OMIM:617873)
Gene: TRIT1
Phenotype: Optic disc hypoplasia (HP:0007766)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 (OMIM:617873)
Gene: TRIT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 (OMIM:617873)
Gene: TRIT1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 (OMIM:617873)
Gene: TRIT1
Phenotype: Esotropia (HP:0000565)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 (OMIM:617873)
Gene: TRIT1
Phenotype: Myopia (HP:0000545)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 (OMIM:617873)
Gene: CNNM2
Phenotype: Open operculum (HP:0100954)
Associated disease: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1 (OMIM:616418)
Gene: CNNM2
Phenotype: Seizure (HP:0001250)
Associated disease: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1 (OMIM:616418)
Gene: CNNM2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1 (OMIM:616418)
Gene: CNNM2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1 (OMIM:616418)
Gene: CNNM2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: HYPOMAGNESEMIA 6, RENAL (OMIM:613882)
Gene: CNNM2
Phenotype: Absent speech (HP:0001344)
Associated disease: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1 (OMIM:616418)
Gene: CNNM2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1 (OMIM:616418)