TaoMedAI/RareMedData huggingface dataset:
Gene: MFAP5
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: MFAP5
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: MFAP5
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: MFAP5
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: MFAP5
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: MFAP5
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: MFAP5
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: MFAP5
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: MFAP5
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: MFAP5
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: MFAP5
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: MFAP5
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: MFAP5
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: MFAP5
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: MFAP5
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: MFAP5
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: MFAP5
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: MFAP5
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 9 (OMIM:616166)
Gene: MFAP5
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: MFAP5
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: MFAP5
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: MFAP5
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: MFAP5
Phenotype: Spontaneous cerebrospinal fluid leak (HP:0032934)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: MFAP5
Phenotype: Descending aortic dissection (HP:0012499)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: MFAP5
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: MFAP5
Phenotype: Aortic tortuosity (HP:0006687)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: MFAP5
Phenotype: Aortic tortuosity (HP:0006687)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 9 (OMIM:616166)
Gene: MFAP5
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: MFAP5
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: MFAP5
Phenotype: Macrotia (HP:0000400)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: MFAP5
Phenotype: Tricuspid valve prolapse (HP:0001704)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: MFAP5
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: MFAP5
Phenotype: Astigmatism (HP:0000483)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: MFAP5
Phenotype: Astigmatism (HP:0000483)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: MFAP5
Phenotype: Strabismus (HP:0000486)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: MFAP5
Phenotype: Strabismus (HP:0000486)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: MFAP5
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: MFAP5
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: MFAP5
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: MFAP5
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: MFAP5
Phenotype: Anteverted nares (HP:0000463)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: MFAP5
Phenotype: Narrow foot (HP:0001786)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: MFAP5
Phenotype: Short neck (HP:0000470)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: MFAP5
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: MFAP5
Phenotype: Pes planus (HP:0001763)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: MFAP5
Phenotype: Pes planus (HP:0001763)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: MFAP5
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: MFAP5
Phenotype: Hammertoe (HP:0001765)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: MFAP5
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: MFAP5
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: MFAP5
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: MFAP5
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: MFAP5
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: MFAP5
Phenotype: Pes cavus (HP:0001761)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: MFAP5
Phenotype: Cataract (HP:0000518)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: MFAP5
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: MFAP5
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: MFAP5
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: MFAP5
Phenotype: Foot acroosteolysis (HP:0001842)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: MFAP5
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: MFAP5
Phenotype: Proptosis (HP:0000520)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: MFAP5
Phenotype: Telecanthus (HP:0000506)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: MFAP5
Phenotype: Ptosis (HP:0000508)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: MFAP5
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: MFAP5
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: MFAP5
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: MFAP5
Phenotype: Exotropia (HP:0000577)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: MFAP5
Phenotype: Shallow orbits (HP:0000586)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: MFAP5
Phenotype: Keratoconus (HP:0000563)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: MFAP5
Phenotype: Keratoconus (HP:0000563)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: MFAP5
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: MFAP5
Phenotype: Esotropia (HP:0000565)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: MFAP5
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: MFAP5
Phenotype: Talipes (HP:0001883)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: MFAP5
Phenotype: Myopia (HP:0000545)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: MFAP5
Phenotype: Myopia (HP:0000545)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: MFAP5
Phenotype: Myopia (HP:0000545)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: MFAP5
Phenotype: Myopia (HP:0000545)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: KMT2D
Phenotype: Brachydactyly (HP:0001156)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Expressive language delay (HP:0002474)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Echogenic fetal bowel (HP:0010943)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Severe sensorineural hearing impairment (HP:0008625)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Marcus Gunn jaw winking synkinesis (HP:0025186)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Microtia (HP:0008551)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Microtia (HP:0008551)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Motor delay (HP:0001270)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Seizure (HP:0001250)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Seizure (HP:0001250)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Hypotonia (HP:0001252)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Hypotonia (HP:0001252)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Intellectual disability (HP:0001249)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Dysarthria (HP:0001260)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Global developmental delay (HP:0001263)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Absent nipple (HP:0002561)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Absent nipple (HP:0002561)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Absent pubertal growth spurt (HP:0031087)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Duplicated collecting system (HP:0000081)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Duplicated collecting system (HP:0000081)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Ureteral duplication (HP:0000073)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Renal duplication (HP:0000075)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Ureteropelvic junction obstruction (HP:0000074)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Ureteropelvic junction obstruction (HP:0000074)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Joint dislocation (HP:0001373)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Micropenis (HP:0000054)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Hypospadias (HP:0000047)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: KMT2D
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Scoliosis (HP:0002650)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Scoliosis (HP:0002650)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Bifid uvula (HP:0000193)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Bifid uvula (HP:0000193)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Cleft palate (HP:0000175)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Cleft palate (HP:0000175)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Persistence of primary teeth (HP:0006335)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Eversion of lateral third of lower eyelids (HP:0007655)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Eversion of lateral third of lower eyelids (HP:0007655)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Cleft lip (HP:0410030)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Floppy infant (HP:0008947)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: High, narrow palate (HP:0002705)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Pelvic kidney (HP:0000125)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Recurrent infections (HP:0002719)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Anal stenosis (HP:0002025)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Anal atresia (HP:0002023)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Malabsorption (HP:0002024)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Short columella (HP:0002000)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Thyroid hypoplasia (HP:0005990)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Butterfly vertebrae (HP:0003316)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Butterfly vertebrae (HP:0003316)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Midface retrusion (HP:0011800)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Midface retrusion (HP:0011800)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Abnormal localization of kidney (HP:0100542)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)