TaoMedAI/RareMedData huggingface dataset:
Gene: STX1A
Phenotype: Autism (HP:0000717)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Abnormal circulating lipid concentration (HP:0003119)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Elfin facies (HP:0004428)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Meconium ileus (HP:0004401)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Myopathy (HP:0003198)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Short nose (HP:0003196)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Hypertension (HP:0000822)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Absent vas deferens (HP:0012873)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Decreased body mass index (HP:0045082)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Male infertility (HP:0003251)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Sacral dimple (HP:0000960)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Osteopenia (HP:0000938)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Osteopenia (HP:0000938)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Synostosis of joints (HP:0100240)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Flat cornea (HP:0007720)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Epicanthus (HP:0000286)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Narrow face (HP:0000275)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Elevated sweat chloride (HP:0012236)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Aortic arch aneurysm (HP:0005113)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Arthralgia (HP:0002829)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Kyphosis (HP:0002808)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Microcephaly (HP:0000252)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Redundant skin (HP:0001582)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Sinusitis (HP:0000246)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Genu valgum (HP:0002857)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Obesity (HP:0001513)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Recurrent Burkholderia cepacia infections (HP:0002842)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Airway obstruction (HP:0006536)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Dysphonia (HP:0001618)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Long philtrum (HP:0000343)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Broad forehead (HP:0000337)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: High forehead (HP:0000348)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Micrognathia (HP:0000347)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Pointed chin (HP:0000307)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Recurrent Haemophilus influenzae infections (HP:0005376)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Abnormal carotid artery morphology (HP:0005344)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Macrotia (HP:0000400)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Strabismus (HP:0000486)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Megalocornea (HP:0000485)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Pes planus (HP:0001763)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Protruding ear (HP:0000411)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Cataract (HP:0000518)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Hallux valgus (HP:0001822)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Visual impairment (HP:0000505)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Glaucoma (HP:0000501)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Myopia (HP:0000545)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX3
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE (OMIM:619446)
Gene: STX3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE (OMIM:619446)
Gene: STX3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microvillous inclusion disease; Microvillus inclusion disease; MVID; Congenital microvillous atrophy; Congenital microvillus atrophy (ORPHA:2290)
Gene: STX3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DIARRHEA 12, WITH MICROVILLUS ATROPHY (OMIM:619445)
Gene: STX3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE (OMIM:619446)
Gene: STX3
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Microvillous inclusion disease; Microvillus inclusion disease; MVID; Congenital microvillous atrophy; Congenital microvillus atrophy (ORPHA:2290)
Gene: STX3
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE (OMIM:619446)
Gene: STX3
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE (OMIM:619446)
Gene: STX3
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE (OMIM:619446)
Gene: STX3
Phenotype: Diarrhea (HP:0002014)
Associated disease: Microvillous inclusion disease; Microvillus inclusion disease; MVID; Congenital microvillous atrophy; Congenital microvillus atrophy (ORPHA:2290)
Gene: STX3
Phenotype: Vomiting (HP:0002013)
Associated disease: DIARRHEA 12, WITH MICROVILLUS ATROPHY (OMIM:619445)
Gene: STX3
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: DIARRHEA 12, WITH MICROVILLUS ATROPHY (OMIM:619445)
Gene: STX3
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE (OMIM:619446)
Gene: STX3
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: DIARRHEA 12, WITH MICROVILLUS ATROPHY (OMIM:619445)
Gene: STX3
Phenotype: Neonatal onset (HP:0003623)
Associated disease: RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE (OMIM:619446)
Gene: STX3
Phenotype: Nystagmus (HP:0000639)
Associated disease: RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE (OMIM:619446)
Gene: STX3
Phenotype: Dehydration (HP:0001944)
Associated disease: Microvillous inclusion disease; Microvillus inclusion disease; MVID; Congenital microvillous atrophy; Congenital microvillus atrophy (ORPHA:2290)
Gene: STX3
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: Microvillous inclusion disease; Microvillus inclusion disease; MVID; Congenital microvillous atrophy; Congenital microvillus atrophy (ORPHA:2290)
Gene: STX3
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: DIARRHEA 12, WITH MICROVILLUS ATROPHY (OMIM:619445)
Gene: STX3
Phenotype: Villous atrophy (HP:0011473)
Associated disease: Microvillous inclusion disease; Microvillus inclusion disease; MVID; Congenital microvillous atrophy; Congenital microvillus atrophy (ORPHA:2290)
Gene: STX3
Phenotype: Villous atrophy (HP:0011473)
Associated disease: DIARRHEA 12, WITH MICROVILLUS ATROPHY (OMIM:619445)
Gene: STX3
Phenotype: Abnormal small intestinal villus morphology (HP:0011472)
Associated disease: Microvillous inclusion disease; Microvillus inclusion disease; MVID; Congenital microvillous atrophy; Congenital microvillus atrophy (ORPHA:2290)
Gene: STX3
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Microvillous inclusion disease; Microvillus inclusion disease; MVID; Congenital microvillous atrophy; Congenital microvillus atrophy (ORPHA:2290)
Gene: STX3
Phenotype: Abdominal distention (HP:0003270)
Associated disease: DIARRHEA 12, WITH MICROVILLUS ATROPHY (OMIM:619445)
Gene: STX3
Phenotype: Pruritus (HP:0000989)
Associated disease: Microvillous inclusion disease; Microvillus inclusion disease; MVID; Congenital microvillous atrophy; Congenital microvillus atrophy (ORPHA:2290)
Gene: STX3
Phenotype: Osteopenia (HP:0000938)
Associated disease: DIARRHEA 12, WITH MICROVILLUS ATROPHY (OMIM:619445)
Gene: STX3
Phenotype: Osteopenia (HP:0000938)
Associated disease: RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE (OMIM:619446)
Gene: STX3
Phenotype: Abnormal renal physiology (HP:0012211)
Associated disease: Microvillous inclusion disease; Microvillus inclusion disease; MVID; Congenital microvillous atrophy; Congenital microvillus atrophy (ORPHA:2290)
Gene: STX3
Phenotype: Dependency on parenteral nutrition (HP:0033994)
Associated disease: DIARRHEA 12, WITH MICROVILLUS ATROPHY (OMIM:619445)
Gene: STX3
Phenotype: Microvillar PAS-positive secretory granules (HP:0033996)
Associated disease: DIARRHEA 12, WITH MICROVILLUS ATROPHY (OMIM:619445)
Gene: STX3
Phenotype: Microvillus inclusions (HP:0033995)
Associated disease: DIARRHEA 12, WITH MICROVILLUS ATROPHY (OMIM:619445)
Gene: STX3
Phenotype: Death in infancy (HP:0001522)
Associated disease: RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE (OMIM:619446)
Gene: STX3
Phenotype: Secretory diarrhea (HP:0005208)
Associated disease: DIARRHEA 12, WITH MICROVILLUS ATROPHY (OMIM:619445)
Gene: STX3
Phenotype: Hypovolemia (HP:0011106)
Associated disease: Microvillous inclusion disease; Microvillus inclusion disease; MVID; Congenital microvillous atrophy; Congenital microvillus atrophy (ORPHA:2290)
Gene: STX3
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE (OMIM:619446)
Gene: STX4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 123 (OMIM:620745)
Gene: STX4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 123 (OMIM:620745)
Gene: STX4
Phenotype: Macrocephaly (HP:0000256)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 123 (OMIM:620745)
Gene: STX4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 123 (OMIM:620745)
Gene: STX4
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 123 (OMIM:620745)
Gene: STX5
Phenotype: Motor delay (HP:0001270)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa (OMIM:620454)
Gene: STX5
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa (OMIM:620454)
Gene: STX5
Phenotype: Cholestasis (HP:0001396)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa (OMIM:620454)
Gene: STX5
Phenotype: Hepatic failure (HP:0001399)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa (OMIM:620454)
Gene: STX5
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa (OMIM:620454)
Gene: STX5
Phenotype: Persistent patent ductus venosus (HP:0012021)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa (OMIM:620454)
Gene: STX5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa (OMIM:620454)
Gene: STX5
Phenotype: Biliary cirrhosis (HP:0002613)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa (OMIM:620454)
Gene: STX5
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa (OMIM:620454)
Gene: STX5
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa (OMIM:620454)
Gene: STX5
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa (OMIM:620454)
Gene: STX5
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa (OMIM:620454)
Gene: STX5
Phenotype: Nodular regenerative hyperplasia of liver (HP:0011954)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa (OMIM:620454)
Gene: STX5
Phenotype: Reduced protein C activity (HP:0005543)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa (OMIM:620454)
Gene: STX5
Phenotype: Reduced antithrombin III activity (HP:0001976)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa (OMIM:620454)
Gene: STX5
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa (OMIM:620454)
Gene: STX5
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa (OMIM:620454)
Gene: STX5
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa (OMIM:620454)
Gene: STX5
Phenotype: Short long bone (HP:0003026)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa (OMIM:620454)
Gene: STX5
Phenotype: Narrow chest (HP:0000774)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa (OMIM:620454)