TaoMedAI/RareMedData huggingface dataset:
Gene: MYLK
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Abnormality of connective tissue (HP:0003549)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Hypoperistalsis (HP:0100771)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: MYLK
Phenotype: Mucoid extracellular matrix accumulation (HP:0200146)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Dural ectasia (HP:0100775)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Descending thoracic aorta aneurysm (HP:0004959)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Ascending aortic dissection (HP:0004933)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 7 (OMIM:613780)
Gene: MYLK
Phenotype: Ascending aortic dissection (HP:0004933)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Peripheral arterial stenosis (HP:0004950)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 7 (OMIM:613780)
Gene: MYLK
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: MYLK
Phenotype: Microcolon (HP:0004388)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: MYLK
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Paroxysmal dyspnea (HP:0012763)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Hypertension (HP:0000822)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: MYLK
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Retrognathia (HP:0000278)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Abdominal aortic aneurysm (HP:0005112)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME (OMIM:249210)
Gene: MYLK
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: MYLK
Phenotype: Death in infancy (HP:0001522)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: MYLK
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: MYLK
Phenotype: Omphalocele (HP:0001539)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: MYLK
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: MYLK
Phenotype: Sudden death (HP:0001699)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 7 (OMIM:613780)
Gene: MYLK
Phenotype: Coronary artery atherosclerosis (HP:0001677)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Descending aortic dissection (HP:0012499)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Descending aortic dissection (HP:0012499)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 7 (OMIM:613780)
Gene: MYLK
Phenotype: Aortic rupture (HP:0031649)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 7 (OMIM:613780)
Gene: MYLK
Phenotype: Hypovolemia (HP:0011106)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Pes planus (HP:0001763)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYLK
Phenotype: Abnormality iris morphology (HP:0000525)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYO1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 48 (OMIM:607841)
Gene: MYO1A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 48 (OMIM:607841)
Gene: MYO1E
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: MYO1E
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6 (OMIM:614131)
Gene: MYO1E
Phenotype: Peritonitis (HP:0002586)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: MYO1E
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: MYO1E
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6 (OMIM:614131)
Gene: MYO1E
Phenotype: Proteinuria (HP:0000093)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: MYO1E
Phenotype: Proteinuria (HP:0000093)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6 (OMIM:614131)
Gene: MYO1E
Phenotype: Renal tubular atrophy (HP:0000092)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6 (OMIM:614131)
Gene: MYO1E
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6 (OMIM:614131)
Gene: MYO1E
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6 (OMIM:614131)
Gene: MYO1E
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: MYO1E
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: MYO1E
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: MYO1E
Phenotype: Progressive (HP:0003676)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6 (OMIM:614131)
Gene: MYO1E
Phenotype: Headache (HP:0002315)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: MYO1E
Phenotype: Juvenile onset (HP:0003621)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6 (OMIM:614131)
Gene: MYO1E
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: MYO1E
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: MYO1E
Phenotype: Fever (HP:0001945)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: MYO1E
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: MYO1E
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6 (OMIM:614131)
Gene: MYO1E
Phenotype: Irritability (HP:0000737)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: MYO1E
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: MYO1E
Phenotype: Childhood onset (HP:0011463)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6 (OMIM:614131)
Gene: MYO1E
Phenotype: Hematuria (HP:0000790)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6 (OMIM:614131)
Gene: MYO1E
Phenotype: Edema (HP:0000969)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: MYO1E
Phenotype: Edema (HP:0000969)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6 (OMIM:614131)
Gene: MYO1E
Phenotype: Foamy urine (HP:0031504)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: MYO1E
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: MYO5A
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Griscelli-Pruniéras syndrome type 1; Hypopigmentation-neurologic impairment syndrome; Griscelli syndrome type 1 (ORPHA:79476)
Gene: MYO5A
Phenotype: Hypertonia (HP:0001276)
Associated disease: Neuroectodermal melanolysosomal disease; Elejalde neuroectodermal melanolysosomal disease (ORPHA:33445)
Gene: MYO5A
Phenotype: Hypertonia (HP:0001276)
Associated disease: Griscelli-Pruniéras syndrome type 1; Hypopigmentation-neurologic impairment syndrome; Griscelli syndrome type 1 (ORPHA:79476)
Gene: MYO5A
Phenotype: Seizure (HP:0001250)
Associated disease: Griscelli-Pruniéras syndrome type 1; Hypopigmentation-neurologic impairment syndrome; Griscelli syndrome type 1 (ORPHA:79476)
Gene: MYO5A
Phenotype: Seizure (HP:0001250)
Associated disease: Neuroectodermal melanolysosomal disease; Elejalde neuroectodermal melanolysosomal disease (ORPHA:33445)
Gene: MYO5A
Phenotype: Seizure (HP:0001250)
Associated disease: GRISCELLI SYNDROME, TYPE 1 (OMIM:214450)
Gene: MYO5A
Phenotype: Hypotonia (HP:0001252)
Associated disease: Neuroectodermal melanolysosomal disease; Elejalde neuroectodermal melanolysosomal disease (ORPHA:33445)
Gene: MYO5A
Phenotype: Hypotonia (HP:0001252)
Associated disease: GRISCELLI SYNDROME, TYPE 1 (OMIM:214450)
Gene: MYO5A
Phenotype: Ataxia (HP:0001251)
Associated disease: Neuroectodermal melanolysosomal disease; Elejalde neuroectodermal melanolysosomal disease (ORPHA:33445)
Gene: MYO5A
Phenotype: Ataxia (HP:0001251)
Associated disease: Griscelli-Pruniéras syndrome type 1; Hypopigmentation-neurologic impairment syndrome; Griscelli syndrome type 1 (ORPHA:79476)
Gene: MYO5A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Griscelli-Pruniéras syndrome type 1; Hypopigmentation-neurologic impairment syndrome; Griscelli syndrome type 1 (ORPHA:79476)
Gene: MYO5A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Neuroectodermal melanolysosomal disease; Elejalde neuroectodermal melanolysosomal disease (ORPHA:33445)
Gene: MYO5A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GRISCELLI SYNDROME, TYPE 1 (OMIM:214450)
Gene: MYO5A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Griscelli-Pruniéras syndrome type 1; Hypopigmentation-neurologic impairment syndrome; Griscelli syndrome type 1 (ORPHA:79476)
Gene: MYO5A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Neuroectodermal melanolysosomal disease; Elejalde neuroectodermal melanolysosomal disease (ORPHA:33445)
Gene: MYO5A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GRISCELLI SYNDROME, TYPE 1 (OMIM:214450)
Gene: MYO5A
Phenotype: Spasticity (HP:0001257)
Associated disease: Neuroectodermal melanolysosomal disease; Elejalde neuroectodermal melanolysosomal disease (ORPHA:33445)
Gene: MYO5A
Phenotype: Generalized hyperpigmentation (HP:0007440)
Associated disease: Neuroectodermal melanolysosomal disease; Elejalde neuroectodermal melanolysosomal disease (ORPHA:33445)
Gene: MYO5A
Phenotype: Partial albinism (HP:0007443)
Associated disease: Griscelli-Pruniéras syndrome type 1; Hypopigmentation-neurologic impairment syndrome; Griscelli syndrome type 1 (ORPHA:79476)
Gene: MYO5A
Phenotype: Partial albinism (HP:0007443)
Associated disease: Griscelli-Pruniéras syndrome type 3; Griscelli syndrome type 3 (ORPHA:79478)
Gene: MYO5A
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Griscelli-Pruniéras syndrome type 1; Hypopigmentation-neurologic impairment syndrome; Griscelli syndrome type 1 (ORPHA:79476)
Gene: MYO5A
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Neuroectodermal melanolysosomal disease; Elejalde neuroectodermal melanolysosomal disease (ORPHA:33445)
Gene: MYO5A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GRISCELLI SYNDROME, TYPE 1 (OMIM:214450)
Gene: MYO5A
Phenotype: Tremor (HP:0001337)
Associated disease: Neuroectodermal melanolysosomal disease; Elejalde neuroectodermal melanolysosomal disease (ORPHA:33445)
Gene: MYO5A
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Neuroectodermal melanolysosomal disease; Elejalde neuroectodermal melanolysosomal disease (ORPHA:33445)
Gene: MYO5A
Phenotype: Subcortical cerebral atrophy (HP:0012157)
Associated disease: Neuroectodermal melanolysosomal disease; Elejalde neuroectodermal melanolysosomal disease (ORPHA:33445)
Gene: MYO5A
Phenotype: Rigidity (HP:0002063)
Associated disease: Neuroectodermal melanolysosomal disease; Elejalde neuroectodermal melanolysosomal disease (ORPHA:33445)
Gene: MYO5A
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Neuroectodermal melanolysosomal disease; Elejalde neuroectodermal melanolysosomal disease (ORPHA:33445)
Gene: MYO5A
Phenotype: Infantile onset (HP:0003593)
Associated disease: GRISCELLI SYNDROME, TYPE 1 (OMIM:214450)
Gene: MYO5A
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Neuroectodermal melanolysosomal disease; Elejalde neuroectodermal melanolysosomal disease (ORPHA:33445)
Gene: MYO5A
Phenotype: Melanin pigment aggregation in hair shafts (HP:0002220)
Associated disease: GRISCELLI SYNDROME, TYPE 1 (OMIM:214450)
Gene: MYO5A
Phenotype: Silver-gray hair (HP:0002218)
Associated disease: GRISCELLI SYNDROME, TYPE 1 (OMIM:214450)
Gene: MYO5A
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: Neuroectodermal melanolysosomal disease; Elejalde neuroectodermal melanolysosomal disease (ORPHA:33445)
Gene: MYO5A
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: Griscelli-Pruniéras syndrome type 1; Hypopigmentation-neurologic impairment syndrome; Griscelli syndrome type 1 (ORPHA:79476)
Gene: MYO5A
Phenotype: White eyelashes (HP:0002227)
Associated disease: GRISCELLI SYNDROME, TYPE 1 (OMIM:214450)
Gene: MYO5A
Phenotype: White eyebrow (HP:0002226)
Associated disease: GRISCELLI SYNDROME, TYPE 1 (OMIM:214450)
Gene: MYO5A
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Neuroectodermal melanolysosomal disease; Elejalde neuroectodermal melanolysosomal disease (ORPHA:33445)
Gene: MYO5A
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Neuroectodermal melanolysosomal disease; Elejalde neuroectodermal melanolysosomal disease (ORPHA:33445)
Gene: MYO5A
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: GRISCELLI SYNDROME, TYPE 1 (OMIM:214450)
Gene: MYO5A
Phenotype: Accumulation of melanosomes in melanocytes (HP:0001008)
Associated disease: GRISCELLI SYNDROME, TYPE 1 (OMIM:214450)
Gene: MYO5A
Phenotype: Abnormal cerebellar vermis morphology (HP:0002334)
Associated disease: Neuroectodermal melanolysosomal disease; Elejalde neuroectodermal melanolysosomal disease (ORPHA:33445)
Gene: MYO5A
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Neuroectodermal melanolysosomal disease; Elejalde neuroectodermal melanolysosomal disease (ORPHA:33445)
Gene: MYO5A
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Griscelli-Pruniéras syndrome type 3; Griscelli syndrome type 3 (ORPHA:79478)
Gene: MYO5A
Phenotype: Nystagmus (HP:0000639)
Associated disease: Neuroectodermal melanolysosomal disease; Elejalde neuroectodermal melanolysosomal disease (ORPHA:33445)
Gene: MYO5A
Phenotype: Nystagmus (HP:0000639)
Associated disease: Griscelli-Pruniéras syndrome type 1; Hypopigmentation-neurologic impairment syndrome; Griscelli syndrome type 1 (ORPHA:79476)
Gene: MYO5A
Phenotype: Diplopia (HP:0000651)
Associated disease: Griscelli-Pruniéras syndrome type 1; Hypopigmentation-neurologic impairment syndrome; Griscelli syndrome type 1 (ORPHA:79476)
Gene: MYO5A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Neuroectodermal melanolysosomal disease; Elejalde neuroectodermal melanolysosomal disease (ORPHA:33445)
Gene: MYO5A
Phenotype: White hair (HP:0011364)
Associated disease: Griscelli-Pruniéras syndrome type 1; Hypopigmentation-neurologic impairment syndrome; Griscelli syndrome type 1 (ORPHA:79476)
Gene: MYO5A
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: Griscelli-Pruniéras syndrome type 1; Hypopigmentation-neurologic impairment syndrome; Griscelli syndrome type 1 (ORPHA:79476)