TaoMedAI/RareMedData huggingface dataset:
Gene: CLCNKB
Phenotype: Proteinuria (HP:0000093)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Delayed ability to stand (HP:0025335)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKB
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Nocturia (HP:0000017)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BARTTER SYNDROME, TYPE 3 (OMIM:607364)
Gene: CLCNKB
Phenotype: Low-to-normal blood pressure (HP:0002632)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Varicose veins (HP:0002619)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Hypotension (HP:0002615)
Associated disease: BARTTER SYNDROME, TYPE 3 (OMIM:607364)
Gene: CLCNKB
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKB
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: BARTTER SYNDROME, TYPE 3 (OMIM:607364)
Gene: CLCNKB
Phenotype: Renal potassium wasting (HP:0000128)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Renal potassium wasting (HP:0000128)
Associated disease: BARTTER SYNDROME, TYPE 3 (OMIM:607364)
Gene: CLCNKB
Phenotype: Renal salt wasting (HP:0000127)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKB
Phenotype: Renal salt wasting (HP:0000127)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKB
Phenotype: Renal salt wasting (HP:0000127)
Associated disease: BARTTER SYNDROME, TYPE 3 (OMIM:607364)
Gene: CLCNKB
Phenotype: Polyuria (HP:0000103)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKB
Phenotype: Polyuria (HP:0000103)
Associated disease: BARTTER SYNDROME, TYPE 3 (OMIM:607364)
Gene: CLCNKB
Phenotype: Constipation (HP:0002019)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Myalgia (HP:0003326)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Diarrhea (HP:0002014)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Vomiting (HP:0002013)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKB
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: BARTTER SYNDROME, TYPE 3 (OMIM:607364)
Gene: CLCNKB
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Primary hyperaldosteronism (HP:0011736)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKB
Phenotype: Paralysis (HP:0003470)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKB
Phenotype: Paresthesia (HP:0003401)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Impaired renal concentrating ability (HP:0004727)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKB
Phenotype: Infantile onset (HP:0003593)
Associated disease: BARTTER SYNDROME, TYPE 3 (OMIM:607364)
Gene: CLCNKB
Phenotype: Congenital onset (HP:0003577)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKB
Phenotype: Congenital onset (HP:0003577)
Associated disease: BARTTER SYNDROME, TYPE 3 (OMIM:607364)
Gene: CLCNKB
Phenotype: Metabolic alkalosis (HP:0200114)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Hyperprostaglandinuria (HP:0003527)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKB
Phenotype: Insomnia (HP:0100785)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Vertigo (HP:0002321)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Headache (HP:0002315)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Graves disease (HP:0100647)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Prominent U wave (HP:0025072)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Clumsiness (HP:0002312)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKB
Phenotype: Juvenile onset (HP:0003621)
Associated disease: BARTTER SYNDROME, TYPE 3 (OMIM:607364)
Gene: CLCNKB
Phenotype: Hypokalemic hypochloremic metabolic alkalosis (HP:0004909)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKB
Phenotype: Impaired renal tubular reabsorption of chloride (HP:0005579)
Associated disease: BARTTER SYNDROME, TYPE 3 (OMIM:607364)
Gene: CLCNKB
Phenotype: Tubulointerstitial nephritis (HP:0001970)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKB
Phenotype: Palpitations (HP:0001962)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Hypernatriuria (HP:0012605)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKB
Phenotype: Renal tubular acidosis (HP:0001947)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Dehydration (HP:0001944)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKB
Phenotype: Dehydration (HP:0001944)
Associated disease: BARTTER SYNDROME, TYPE 3 (OMIM:607364)
Gene: CLCNKB
Phenotype: Abnormal choroid morphology (HP:0000610)
Associated disease: BARTTER SYNDROME, TYPE 3 (OMIM:607364)
Gene: CLCNKB
Phenotype: Hypokalemic metabolic alkalosis (HP:0001960)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKB
Phenotype: Hypokalemic metabolic alkalosis (HP:0001960)
Associated disease: BARTTER SYNDROME, TYPE 3 (OMIM:607364)
Gene: CLCNKB
Phenotype: Polydipsia (HP:0001959)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Blurred vision (HP:0000622)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Diabetic ketoacidosis (HP:0001953)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKB
Phenotype: Renal Fanconi syndrome (HP:0001994)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Gout (HP:0001997)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Increased urinary potassium (HP:0003081)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKB
Phenotype: Increased urinary potassium (HP:0003081)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKB
Phenotype: Increased urinary potassium (HP:0003081)
Associated disease: BARTTER SYNDROME, TYPE 3 (OMIM:607364)
Gene: CLCNKB
Phenotype: Enuresis (HP:0000805)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKB
Phenotype: Emotional lability (HP:0000712)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKB
Phenotype: Childhood onset (HP:0011463)
Associated disease: BARTTER SYNDROME, TYPE 3 (OMIM:607364)
Gene: CLCNKB
Phenotype: Hypochloremia (HP:0003113)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKB
Phenotype: Hypochloremia (HP:0003113)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKB
Phenotype: Hypocalciuria (HP:0003127)
Associated disease: BARTTER SYNDROME, TYPE 3 (OMIM:607364)
Gene: CLCNKB
Phenotype: Hashimoto thyroiditis (HP:0000872)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKB
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKB
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
Associated disease: BARTTER SYNDROME, TYPE 3 (OMIM:607364)
Gene: CLCNKB
Phenotype: Insulin resistance (HP:0000855)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Scleroderma (HP:0100324)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Increased circulating renin concentration (HP:0000848)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKB
Phenotype: Increased circulating renin concentration (HP:0000848)
Associated disease: BARTTER SYNDROME, TYPE 3 (OMIM:607364)
Gene: CLCNKB
Phenotype: Hyperactive renin-angiotensin system (HP:0000841)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKB
Phenotype: Hyperactive renin-angiotensin system (HP:0000841)
Associated disease: BARTTER SYNDROME, TYPE 3 (OMIM:607364)
Gene: CLCNKB
Phenotype: Hypertension (HP:0000822)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKB
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Edema (HP:0000969)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKB
Phenotype: Chondrocalcinosis (HP:0000934)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: BARTTER SYNDROME, TYPE 3 (OMIM:607364)
Gene: CLCNKB
Phenotype: Prolonged PR interval (HP:0012248)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: ST segment depression (HP:0012250)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Abnormal T-wave (HP:0005135)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Arthralgia (HP:0002829)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Salt craving (HP:0030083)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Parathyroid adenoma (HP:0002897)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Decreased glomerular filtration rate (HP:0012213)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKB
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKB
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKB
Phenotype: Fetal polyuria (HP:0001563)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKB
Phenotype: Severe failure to thrive (HP:0001525)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKB
Phenotype: Failure to thrive (HP:0001508)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKB
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKB
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKB
Phenotype: Decreased urinary potassium (HP:0012364)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKB
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Hypermagnesemia (HP:0002918)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Hyperchloriduria (HP:0002914)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKB
Phenotype: Hyperchloriduria (HP:0002914)
Associated disease: BARTTER SYNDROME, TYPE 3 (OMIM:607364)
Gene: CLCNKB
Phenotype: Hyponatremia (HP:0002902)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKB
Phenotype: Hyponatremia (HP:0002902)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKB
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKB
Phenotype: Hypokalemia (HP:0002900)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKB
Phenotype: Hypokalemia (HP:0002900)
Associated disease: BARTTER SYNDROME, TYPE 3 (OMIM:607364)
Gene: CLCNKB
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Tinnitus (HP:0000360)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Triangular face (HP:0000325)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKB
Phenotype: Premature birth (HP:0001622)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKB
Phenotype: Premature birth (HP:0001622)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKB
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKB
Phenotype: Protruding ear (HP:0000411)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKB
Phenotype: Mitochondrial encephalopathy (HP:0006789)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Abnormal sclera morphology (HP:0000591)
Associated disease: BARTTER SYNDROME, TYPE 3 (OMIM:607364)
Gene: CLCNKB
Phenotype: Iron deficiency anemia (HP:0001891)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLIC2
Phenotype: Abnormal thumb morphology (HP:0001172)
Associated disease: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (ORPHA:324410)
Gene: CLIC2
Phenotype: Poor speech (HP:0002465)
Associated disease: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (ORPHA:324410)
Gene: CLIC2
Phenotype: Seizure (HP:0001250)
Associated disease: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (ORPHA:324410)
Gene: CLIC2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (ORPHA:324410)
Gene: CLIC2
Phenotype: Inability to walk (HP:0002540)
Associated disease: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (ORPHA:324410)
Gene: CLIC2
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (ORPHA:324410)
Gene: CLIC2
Phenotype: Macroorchidism (HP:0000053)
Associated disease: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (ORPHA:324410)
Gene: CLIC2
Phenotype: Absent speech (HP:0001344)
Associated disease: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (ORPHA:324410)
Gene: CLIC2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (ORPHA:324410)
Gene: CLIC2
Phenotype: Steppage gait (HP:0003376)
Associated disease: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (ORPHA:324410)
Gene: CLIC2
Phenotype: Atrial flutter (HP:0004749)
Associated disease: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (ORPHA:324410)
Gene: CLIC2
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (ORPHA:324410)
Gene: CLIC2
Phenotype: Protruding tongue (HP:0010808)
Associated disease: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (ORPHA:324410)
Gene: CLIC2
Phenotype: Contractures of the large joints (HP:0005781)
Associated disease: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (ORPHA:324410)
Gene: CLIC2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (ORPHA:324410)
Gene: CLIC2
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (ORPHA:324410)
Gene: CLIC2
Phenotype: Overfolded helix (HP:0000396)
Associated disease: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (ORPHA:324410)
Gene: CLIC2
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (ORPHA:324410)
Gene: CLIC2
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (ORPHA:324410)
Gene: CLIC2
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (ORPHA:324410)
Gene: CLIC2
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (ORPHA:324410)
Gene: CLIC2
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (ORPHA:324410)
Gene: CLIC2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (ORPHA:324410)
Gene: CLIC2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (ORPHA:324410)
Gene: CLIC2
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (ORPHA:324410)
Gene: CLIC2
Phenotype: Macrotia (HP:0000400)
Associated disease: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (ORPHA:324410)