TaoMedAI/RareMedData huggingface dataset:
Gene: MYH7
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 1S (OMIM:613426)
Gene: MYH7
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Ebstein anomaly of the tricuspid valve; Ebstein malformation of the tricuspid valve (ORPHA:1880)
Gene: MYH7
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: CARDIOMYOPATHY, DILATED, 1S (OMIM:613426)
Gene: MYH7
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: MYH7
Phenotype: Premature birth (HP:0001622)
Associated disease: Ebstein anomaly of the tricuspid valve; Ebstein malformation of the tricuspid valve (ORPHA:1880)
Gene: MYH7
Phenotype: Microretrognathia (HP:0000308)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: MYH7
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT (OMIM:608358)
Gene: MYH7
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MYH7
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYH7
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Ebstein anomaly of the tricuspid valve; Ebstein malformation of the tricuspid valve (ORPHA:1880)
Gene: MYH7
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, DILATED, 1S (OMIM:613426)
Gene: MYH7
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: MYH7
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 (OMIM:192600)
Gene: MYH7
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Ebstein anomaly of the tricuspid valve; Ebstein malformation of the tricuspid valve (ORPHA:1880)
Gene: MYH7
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: MYH7
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: MYH7
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: MYH7
Phenotype: Fourth heart sound (HP:0031659)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYH7
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYH7
Phenotype: Right ventricular failure (HP:0001708)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: MYH7
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Laing distal myopathy; Distal myopathy type 1; MPD1 (ORPHA:59135)
Gene: MYH7
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: MYOPATHY, DISTAL, 1 (OMIM:160500)
Gene: MYH7
Phenotype: Pes planus (HP:0001763)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: MYH7
Phenotype: Hypoxemia (HP:0012418)
Associated disease: Ebstein anomaly of the tricuspid valve; Ebstein malformation of the tricuspid valve (ORPHA:1880)
Gene: MYH7
Phenotype: Late young adult onset (HP:0025710)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: Pes cavus (HP:0001761)
Associated disease: MYOPATHY, DISTAL, 1 (OMIM:160500)
Gene: MYH7
Phenotype: Weakness of orbicularis oculi muscle (HP:0012507)
Associated disease: Laing distal myopathy; Distal myopathy type 1; MPD1 (ORPHA:59135)
Gene: MYH7
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MYH7
Phenotype: Holosystolic murmur (HP:0031667)
Associated disease: Ebstein anomaly of the tricuspid valve; Ebstein malformation of the tricuspid valve (ORPHA:1880)
Gene: MYH8
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Distal arthrogryposis type 7; Dutch-Kentucky syndrome; Trismus-pseudocamptodactyly syndrome; Hecht-Beals syndrome; Hecht syndrome (ORPHA:3377)
Gene: MYH8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARNEY COMPLEX VARIANT (OMIM:608837)
Gene: MYH8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 7 (OMIM:158300)
Gene: MYH8
Phenotype: Deep philtrum (HP:0002002)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 7 (OMIM:158300)
Gene: MYH8
Phenotype: Dysphagia (HP:0002015)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 7 (OMIM:158300)
Gene: MYH8
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 7 (OMIM:158300)
Gene: MYH8
Phenotype: Cutaneous syndactyly of toes (HP:0010621)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 7 (OMIM:158300)
Gene: MYH8
Phenotype: Symphalangism affecting the phalanges of the hand (HP:0009773)
Associated disease: Distal arthrogryposis type 7; Dutch-Kentucky syndrome; Trismus-pseudocamptodactyly syndrome; Hecht-Beals syndrome; Hecht syndrome (ORPHA:3377)
Gene: MYH8
Phenotype: Short stature (HP:0004322)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 7 (OMIM:158300)
Gene: MYH8
Phenotype: Short stature (HP:0004322)
Associated disease: Distal arthrogryposis type 7; Dutch-Kentucky syndrome; Trismus-pseudocamptodactyly syndrome; Hecht-Beals syndrome; Hecht syndrome (ORPHA:3377)
Gene: MYH8
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: Distal arthrogryposis type 7; Dutch-Kentucky syndrome; Trismus-pseudocamptodactyly syndrome; Hecht-Beals syndrome; Hecht syndrome (ORPHA:3377)
Gene: MYH8
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 7 (OMIM:158300)
Gene: MYH8
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: CARNEY COMPLEX VARIANT (OMIM:608837)
Gene: MYH8
Phenotype: Tall chin (HP:0400000)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 7 (OMIM:158300)
Gene: MYH8
Phenotype: Cardiac myxoma (HP:0011672)
Associated disease: CARNEY COMPLEX VARIANT (OMIM:608837)
Gene: MYH8
Phenotype: Macrocephaly (HP:0000256)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 7 (OMIM:158300)
Gene: MYH8
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Distal arthrogryposis type 7; Dutch-Kentucky syndrome; Trismus-pseudocamptodactyly syndrome; Hecht-Beals syndrome; Hecht syndrome (ORPHA:3377)
Gene: MYH8
Phenotype: Hip dislocation (HP:0002827)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 7 (OMIM:158300)
Gene: MYH8
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 7 (OMIM:158300)
Gene: MYH8
Phenotype: Trismus (HP:0000211)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 7 (OMIM:158300)
Gene: MYH8
Phenotype: Trismus (HP:0000211)
Associated disease: CARNEY COMPLEX VARIANT (OMIM:608837)
Gene: MYH8
Phenotype: Micrognathia (HP:0000347)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 7 (OMIM:158300)
Gene: MYH8
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 7 (OMIM:158300)
Gene: MYH8
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Distal arthrogryposis type 7; Dutch-Kentucky syndrome; Trismus-pseudocamptodactyly syndrome; Hecht-Beals syndrome; Hecht syndrome (ORPHA:3377)
Gene: MYH8
Phenotype: Hammertoe (HP:0001765)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 7 (OMIM:158300)
Gene: MYH8
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 7 (OMIM:158300)
Gene: MYH8
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 7 (OMIM:158300)
Gene: MYH8
Phenotype: Ptosis (HP:0000508)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 7 (OMIM:158300)
Gene: MYH8
Phenotype: Ptosis (HP:0000508)
Associated disease: Distal arthrogryposis type 7; Dutch-Kentucky syndrome; Trismus-pseudocamptodactyly syndrome; Hecht-Beals syndrome; Hecht syndrome (ORPHA:3377)
Gene: MYH9
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: MYH9-related syndrome; MYH9-related syndromic thrombocytopenia; MYH9-related disorder; MYH9-RD; MYH9-related disease (ORPHA:182050)
Gene: MYH9
Phenotype: Proteinuria (HP:0000093)
Associated disease: MYH9-related syndrome; MYH9-related syndromic thrombocytopenia; MYH9-related disorder; MYH9-RD; MYH9-related disease (ORPHA:182050)
Gene: MYH9
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS (OMIM:155100)
Gene: MYH9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS (OMIM:155100)
Gene: MYH9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 17 (OMIM:603622)
Gene: MYH9
Phenotype: Nephritis (HP:0000123)
Associated disease: MYH9-related syndrome; MYH9-related syndromic thrombocytopenia; MYH9-related disorder; MYH9-RD; MYH9-related disease (ORPHA:182050)
Gene: MYH9
Phenotype: Menorrhagia (HP:0000132)
Associated disease: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS (OMIM:155100)
Gene: MYH9
Phenotype: Menorrhagia (HP:0000132)
Associated disease: MYH9-related syndrome; MYH9-related syndromic thrombocytopenia; MYH9-related disorder; MYH9-RD; MYH9-related disease (ORPHA:182050)
Gene: MYH9
Phenotype: Nephropathy (HP:0000112)
Associated disease: MYH9-related syndrome; MYH9-related syndromic thrombocytopenia; MYH9-related disorder; MYH9-RD; MYH9-related disease (ORPHA:182050)
Gene: MYH9
Phenotype: Impaired epinephrine-induced platelet aggregation (HP:0008148)
Associated disease: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS (OMIM:155100)
Gene: MYH9
Phenotype: Increased mean platelet volume (HP:0011877)
Associated disease: MYH9-related syndrome; MYH9-related syndromic thrombocytopenia; MYH9-related disorder; MYH9-RD; MYH9-related disease (ORPHA:182050)
Gene: MYH9
Phenotype: Neutrophil inclusion bodies (HP:0008264)
Associated disease: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS (OMIM:155100)
Gene: MYH9
Phenotype: Neutrophil inclusion bodies (HP:0008264)
Associated disease: MYH9-related syndrome; MYH9-related syndromic thrombocytopenia; MYH9-related disorder; MYH9-RD; MYH9-related disease (ORPHA:182050)
Gene: MYH9
Phenotype: Congenital onset (HP:0003577)
Associated disease: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS (OMIM:155100)
Gene: MYH9
Phenotype: Impaired ADP-induced platelet aggregation (HP:0004866)
Associated disease: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS (OMIM:155100)
Gene: MYH9
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 17 (OMIM:603622)
Gene: MYH9
Phenotype: Abnormal thrombosis (HP:0001977)
Associated disease: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS (OMIM:155100)
Gene: MYH9
Phenotype: Congenital thrombocytopenia (HP:0001905)
Associated disease: MYH9-related syndrome; MYH9-related syndromic thrombocytopenia; MYH9-related disorder; MYH9-RD; MYH9-related disease (ORPHA:182050)
Gene: MYH9
Phenotype: Giant platelets (HP:0001902)
Associated disease: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS (OMIM:155100)
Gene: MYH9
Phenotype: Giant platelets (HP:0001902)
Associated disease: MYH9-related syndrome; MYH9-related syndromic thrombocytopenia; MYH9-related disorder; MYH9-RD; MYH9-related disease (ORPHA:182050)
Gene: MYH9
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS (OMIM:155100)
Gene: MYH9
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: MYH9-related syndrome; MYH9-related syndromic thrombocytopenia; MYH9-related disorder; MYH9-RD; MYH9-related disease (ORPHA:182050)
Gene: MYH9
Phenotype: Spontaneous, recurrent epistaxis (HP:0004406)
Associated disease: MYH9-related syndrome; MYH9-related syndromic thrombocytopenia; MYH9-related disorder; MYH9-RD; MYH9-related disease (ORPHA:182050)
Gene: MYH9
Phenotype: Leukocyte inclusion bodies (HP:0040235)
Associated disease: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS (OMIM:155100)
Gene: MYH9
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS (OMIM:155100)
Gene: MYH9
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: MYH9-related syndrome; MYH9-related syndromic thrombocytopenia; MYH9-related disorder; MYH9-RD; MYH9-related disease (ORPHA:182050)
Gene: MYH9
Phenotype: Macrothrombocytopenia (HP:0040185)
Associated disease: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS (OMIM:155100)
Gene: MYH9
Phenotype: High-frequency hearing impairment (HP:0005101)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 17 (OMIM:603622)
Gene: MYH9
Phenotype: Presenile cataracts (HP:0007819)
Associated disease: MYH9-related syndrome; MYH9-related syndromic thrombocytopenia; MYH9-related disorder; MYH9-RD; MYH9-related disease (ORPHA:182050)
Gene: MYH9
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: MYH9-related syndrome; MYH9-related syndromic thrombocytopenia; MYH9-related disorder; MYH9-RD; MYH9-related disease (ORPHA:182050)
Gene: MYH9
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS (OMIM:155100)
Gene: MYH9
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: MYH9-related syndrome; MYH9-related syndromic thrombocytopenia; MYH9-related disorder; MYH9-RD; MYH9-related disease (ORPHA:182050)
Gene: MYH9
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS (OMIM:155100)
Gene: MYH9
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MYH9-related syndrome; MYH9-related syndromic thrombocytopenia; MYH9-related disorder; MYH9-RD; MYH9-related disease (ORPHA:182050)
Gene: MYH9
Phenotype: Epistaxis (HP:0000421)
Associated disease: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS (OMIM:155100)
Gene: MYH9
Phenotype: Megakaryocyte dysplasia (HP:0031689)
Associated disease: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS (OMIM:155100)
Gene: MYH9
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS (OMIM:155100)
Gene: MYH9
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS (OMIM:155100)
Gene: MYH11
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Fetal megacystis (HP:0010956)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 (OMIM:619351)
Gene: MYH11
Phenotype: Livedo reticularis (HP:0033505)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 4 (OMIM:132900)
Gene: MYH11
Phenotype: Stroke (HP:0001297)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 4 (OMIM:132900)
Gene: MYH11
Phenotype: Stroke (HP:0001297)
Associated disease: Cystic medial necrosis of aorta; Familial aortic dissection; Annuloaortic ectasia (ORPHA:229)
Gene: MYH11
Phenotype: Stroke (HP:0001297)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Sepsis (HP:0100806)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: MYH11
Phenotype: Peritonitis (HP:0002586)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 (OMIM:619351)
Gene: MYH11
Phenotype: Volvulus (HP:0002580)
Associated disease: VISCERAL MYOPATHY 2 (OMIM:619350)
Gene: MYH11
Phenotype: Gastroparesis (HP:0002578)
Associated disease: VISCERAL MYOPATHY 2 (OMIM:619350)
Gene: MYH11
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: VISCERAL MYOPATHY 2 (OMIM:619350)
Gene: MYH11
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: MYH11
Phenotype: Tall stature (HP:0000098)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Hydroureter (HP:0000072)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: MYH11
Phenotype: Megacystis (HP:0000021)
Associated disease: VISCERAL MYOPATHY 2 (OMIM:619350)
Gene: MYH11
Phenotype: Megacystis (HP:0000021)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 (OMIM:619351)
Gene: MYH11
Phenotype: Megacystis (HP:0000021)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: MYH11
Phenotype: Pregnancy history (HP:0002686)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: MYH11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 (OMIM:619351)
Gene: MYH11
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: MYH11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VISCERAL MYOPATHY 2 (OMIM:619350)
Gene: MYH11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MYH11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 4 (OMIM:132900)
Gene: MYH11
Phenotype: Scoliosis (HP:0002650)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Aortic dissection (HP:0002647)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 4 (OMIM:132900)
Gene: MYH11
Phenotype: Aortic dissection (HP:0002647)
Associated disease: Cystic medial necrosis of aorta; Familial aortic dissection; Annuloaortic ectasia (ORPHA:229)
Gene: MYH11
Phenotype: Aortic dissection (HP:0002647)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Cystic medial necrosis of aorta; Familial aortic dissection; Annuloaortic ectasia (ORPHA:229)
Gene: MYH11
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Cystic medial necrosis (HP:0012180)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 4 (OMIM:132900)
Gene: MYH11
Phenotype: Carotid artery dilatation (HP:0012163)
Associated disease: Cystic medial necrosis of aorta; Familial aortic dissection; Annuloaortic ectasia (ORPHA:229)
Gene: MYH11
Phenotype: Carotid artery dilatation (HP:0012163)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Bronchomalacia (HP:0002780)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 (OMIM:619351)
Gene: MYH11
Phenotype: Recurrent infections (HP:0002719)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 (OMIM:619351)
Gene: MYH11
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: VISCERAL MYOPATHY 2 (OMIM:619350)
Gene: MYH11
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: MYH11
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: VISCERAL MYOPATHY 2 (OMIM:619350)
Gene: MYH11
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: VISCERAL MYOPATHY 2 (OMIM:619350)
Gene: MYH11
Phenotype: Megaduodenum (HP:0030996)
Associated disease: VISCERAL MYOPATHY 2 (OMIM:619350)
Gene: MYH11
Phenotype: Dysphagia (HP:0002015)
Associated disease: VISCERAL MYOPATHY 2 (OMIM:619350)
Gene: MYH11
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 (OMIM:619351)
Gene: MYH11
Phenotype: Carotid artery stenosis (HP:0100546)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 4 (OMIM:132900)
Gene: MYH11
Phenotype: Neoplasm of the heart (HP:0100544)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)