TaoMedAI/RareMedData huggingface dataset:
Gene: SLC6A9
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC6A9
Phenotype: Myopathic facies (HP:0002058)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC6A9
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC6A9
Phenotype: Apnea (HP:0002104)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC6A9
Phenotype: Clonus (HP:0002169)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC6A9
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC6A9
Phenotype: Congenital onset (HP:0003577)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC6A9
Phenotype: Optic atrophy (HP:0000648)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC6A9
Phenotype: Hip contracture (HP:0003273)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC6A9
Phenotype: Retrognathia (HP:0000278)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC6A9
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC6A9
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC6A9
Phenotype: Hip dislocation (HP:0002827)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC6A9
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC6A9
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC6A9
Phenotype: Microcephaly (HP:0000252)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC6A9
Phenotype: Respiratory failure (HP:0002878)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC6A9
Phenotype: Low-set ears (HP:0000369)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC6A9
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC6A9
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC6A9
Phenotype: Anteverted nares (HP:0000463)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC6A9
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC6A9
Phenotype: Overlapping toe (HP:0001845)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC6A9
Phenotype: Long eyelashes (HP:0000527)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC6A9
Phenotype: Ptosis (HP:0000508)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC9A1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
Gene: SLC9A1
Phenotype: Motor delay (HP:0001270)
Associated disease: LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
Gene: SLC9A1
Phenotype: Ataxia (HP:0001251)
Associated disease: LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
Gene: SLC9A1
Phenotype: Dysarthria (HP:0001260)
Associated disease: LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
Gene: SLC9A1
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
Gene: SLC9A1
Phenotype: Areflexia of upper limbs (HP:0012046)
Associated disease: LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
Gene: SLC9A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
Gene: SLC9A1
Phenotype: Dysmetria (HP:0001310)
Associated disease: LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
Gene: SLC9A1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
Gene: SLC9A1
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
Gene: SLC9A1
Phenotype: Limb ataxia (HP:0002070)
Associated disease: LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
Gene: SLC9A1
Phenotype: Action tremor (HP:0002345)
Associated disease: LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
Gene: SLC9A1
Phenotype: Progressive (HP:0003676)
Associated disease: LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
Gene: SLC9A1
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
Gene: SLC9A1
Phenotype: Nystagmus (HP:0000639)
Associated disease: LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
Gene: SLC9A1
Phenotype: Short stature (HP:0004322)
Associated disease: LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
Gene: SLC9A1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
Gene: SLC9A1
Phenotype: Childhood onset (HP:0011463)
Associated disease: LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
Gene: SLC9A1
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
Gene: SLC9A1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
Gene: SLC9A1
Phenotype: Vestibular hyporeflexia (HP:0001756)
Associated disease: LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
Gene: SLC9A3
Phenotype: Abnormal blood sodium concentration (HP:0010931)
Associated disease: DIARRHEA 8, SECRETORY SODIUM, CONGENITAL (OMIM:616868)
Gene: SLC9A3
Phenotype: Nontuberculous mycobacterial pulmonary infection (HP:0032261)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Steatorrhea (HP:0002570)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Reduced forced expiratory volume in one second (HP:0032342)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DIARRHEA 8, SECRETORY SODIUM, CONGENITAL (OMIM:616868)
Gene: SLC9A3
Phenotype: Elevated fecal sodium (HP:0032484)
Associated disease: DIARRHEA 8, SECRETORY SODIUM, CONGENITAL (OMIM:616868)
Gene: SLC9A3
Phenotype: Reduced fecal osmolality (HP:0032487)
Associated disease: DIARRHEA 8, SECRETORY SODIUM, CONGENITAL (OMIM:616868)
Gene: SLC9A3
Phenotype: Elevated fecal pH (HP:0032489)
Associated disease: DIARRHEA 8, SECRETORY SODIUM, CONGENITAL (OMIM:616868)
Gene: SLC9A3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DIARRHEA 8, SECRETORY SODIUM, CONGENITAL (OMIM:616868)
Gene: SLC9A3
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Recurrent Staphylococcus aureus infections (HP:0002726)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Recurrent Aspergillus infections (HP:0002724)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Malabsorption (HP:0002024)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: DIARRHEA 8, SECRETORY SODIUM, CONGENITAL (OMIM:616868)
Gene: SLC9A3
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Asthma (HP:0002099)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Elevated stool chloride content (HP:0034470)
Associated disease: DIARRHEA 8, SECRETORY SODIUM, CONGENITAL (OMIM:616868)
Gene: SLC9A3
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Ileal ulcer (HP:0032024)
Associated disease: DIARRHEA 8, SECRETORY SODIUM, CONGENITAL (OMIM:616868)
Gene: SLC9A3
Phenotype: Antenatal onset (HP:0030674)
Associated disease: DIARRHEA 8, SECRETORY SODIUM, CONGENITAL (OMIM:616868)
Gene: SLC9A3
Phenotype: Anxiety (HP:0000739)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Depression (HP:0000716)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Villous atrophy (HP:0011473)
Associated disease: DIARRHEA 8, SECRETORY SODIUM, CONGENITAL (OMIM:616868)
Gene: SLC9A3
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Meconium ileus (HP:0004401)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Absent vas deferens (HP:0012873)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Abdominal distention (HP:0003270)
Associated disease: DIARRHEA 8, SECRETORY SODIUM, CONGENITAL (OMIM:616868)
Gene: SLC9A3
Phenotype: Decreased body mass index (HP:0045082)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Male infertility (HP:0003251)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Osteopenia (HP:0000938)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Elevated sweat chloride (HP:0012236)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Sinusitis (HP:0000246)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: DIARRHEA 8, SECRETORY SODIUM, CONGENITAL (OMIM:616868)
Gene: SLC9A3
Phenotype: Dependency on parenteral nutrition (HP:0033994)
Associated disease: DIARRHEA 8, SECRETORY SODIUM, CONGENITAL (OMIM:616868)
Gene: SLC9A3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Recurrent Burkholderia cepacia infections (HP:0002842)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Secretory diarrhea (HP:0005208)
Associated disease: DIARRHEA 8, SECRETORY SODIUM, CONGENITAL (OMIM:616868)
Gene: SLC9A3
Phenotype: Airway obstruction (HP:0006536)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Recurrent Haemophilus influenzae infections (HP:0005376)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC9A3
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC10A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERCHOLANEMIA, FAMILIAL, 2 (OMIM:619256)
Gene: SLC10A1
Phenotype: Decreased circulating vitamin D concentration (HP:0100512)
Associated disease: HYPERCHOLANEMIA, FAMILIAL, 2 (OMIM:619256)
Gene: SLC10A1
Phenotype: Unconjugated hyperbilirubinemia (HP:0008282)
Associated disease: HYPERCHOLANEMIA, FAMILIAL, 2 (OMIM:619256)
Gene: SLC10A1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: HYPERCHOLANEMIA, FAMILIAL, 2 (OMIM:619256)
Gene: SLC10A1
Phenotype: Osteopenia (HP:0000938)
Associated disease: HYPERCHOLANEMIA, FAMILIAL, 2 (OMIM:619256)
Gene: SLC10A1
Phenotype: Increased serum bile acid concentration (HP:0012202)
Associated disease: HYPERCHOLANEMIA, FAMILIAL, 2 (OMIM:619256)
Gene: SLC10A1
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: HYPERCHOLANEMIA, FAMILIAL, 2 (OMIM:619256)
Gene: SLC10A2
Phenotype: Steatorrhea (HP:0002570)
Associated disease: BILE ACID MALABSORPTION, PRIMARY (OMIM:613291)
Gene: SLC10A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BILE ACID MALABSORPTION, PRIMARY (OMIM:613291)
Gene: SLC10A2
Phenotype: Fat malabsorption (HP:0002630)
Associated disease: BILE ACID MALABSORPTION, PRIMARY (OMIM:613291)
Gene: SLC10A2
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: BILE ACID MALABSORPTION, PRIMARY (OMIM:613291)
Gene: SLC10A2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: BILE ACID MALABSORPTION, PRIMARY (OMIM:613291)
Gene: SLC10A2
Phenotype: Increased fecal bile acid (HP:0034043)
Associated disease: BILE ACID MALABSORPTION, PRIMARY (OMIM:613291)
Gene: SLC10A2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: BILE ACID MALABSORPTION, PRIMARY (OMIM:613291)
Gene: SLC10A2
Phenotype: Growth delay (HP:0001510)
Associated disease: BILE ACID MALABSORPTION, PRIMARY (OMIM:613291)
Gene: SLC11A1
Phenotype: Nontuberculous mycobacterial pulmonary infection (HP:0032261)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Steatorrhea (HP:0002570)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Reduced forced expiratory volume in one second (HP:0032342)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Recurrent Staphylococcus aureus infections (HP:0002726)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Recurrent Aspergillus infections (HP:0002724)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Malabsorption (HP:0002024)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Asthma (HP:0002099)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Anxiety (HP:0000739)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Depression (HP:0000716)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Meconium ileus (HP:0004401)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Absent vas deferens (HP:0012873)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Decreased body mass index (HP:0045082)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Male infertility (HP:0003251)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Osteopenia (HP:0000938)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Elevated sweat chloride (HP:0012236)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Sinusitis (HP:0000246)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Recurrent Burkholderia cepacia infections (HP:0002842)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Airway obstruction (HP:0006536)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Recurrent Haemophilus influenzae infections (HP:0005376)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC11A1
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC12A1
Phenotype: Tetany (HP:0001281)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Seizure (HP:0001250)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Low-to-normal blood pressure (HP:0002632)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Renal potassium wasting (HP:0000128)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Renal salt wasting (HP:0000127)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Renal juxtaglomerular cell hypertrophy/hyperplasia (HP:0000111)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Polyuria (HP:0000103)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Constipation (HP:0002019)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Diarrhea (HP:0002014)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Vomiting (HP:0002013)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Paresthesia (HP:0003401)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Increased serum prostaglandin E2 (HP:0003566)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Hyperprostaglandinuria (HP:0003527)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Dehydration (HP:0001944)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Fever (HP:0001945)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Hypokalemic metabolic alkalosis (HP:0001960)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Short stature (HP:0004322)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Increased urinary potassium (HP:0003081)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Fetal onset (HP:0011461)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Hypochloremia (HP:0003113)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Hyposthenuria (HP:0003158)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Increased circulating renin concentration (HP:0000848)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Hyperparathyroidism (HP:0000843)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Hyperactive renin-angiotensin system (HP:0000841)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Osteopenia (HP:0000938)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Chondrocalcinosis (HP:0000934)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Fetal polyuria (HP:0001563)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Hyperchloriduria (HP:0002914)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Hypokalemia (HP:0002900)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Gene: SLC12A1
Phenotype: Premature birth (HP:0001622)
Associated disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)