TaoMedAI/RareMedData huggingface dataset:
Gene: CLCN7
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Abnormality of the vertebral endplates (HP:0005106)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 2 (OMIM:166600)
Gene: CLCN7
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT (OMIM:618541)
Gene: CLCN7
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN7
Phenotype: Genu valgum (HP:0002857)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN7
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT (OMIM:618541)
Gene: CLCN7
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Growth delay (HP:0001510)
Associated disease: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT (OMIM:618541)
Gene: CLCN7
Phenotype: Growth delay (HP:0001510)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Growth delay (HP:0001510)
Associated disease: OSTEOPETROSIS,  AUTOSOMAL RECESSIVE 4 (OMIM:611490)
Gene: CLCN7
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN7
Phenotype: Fatigue (HP:0012378)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Otitis media (HP:0000388)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: CLCN7
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: CLCN7
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN7
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Osteopetrosis (HP:0011002)
Associated disease: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT (OMIM:618541)
Gene: CLCN7
Phenotype: Osteopetrosis (HP:0011002)
Associated disease: OSTEOPETROSIS,  AUTOSOMAL RECESSIVE 4 (OMIM:611490)
Gene: CLCN7
Phenotype: Osteopetrosis (HP:0011002)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 2 (OMIM:166600)
Gene: CLCN7
Phenotype: Osteopetrosis (HP:0011002)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: OSTEOPETROSIS,  AUTOSOMAL RECESSIVE 4 (OMIM:611490)
Gene: CLCN7
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN7
Phenotype: Hypertelorism (HP:0000316)
Associated disease: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT (OMIM:618541)
Gene: CLCN7
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Premature birth (HP:0001622)
Associated disease: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT (OMIM:618541)
Gene: CLCN7
Phenotype: Abnormal pulmonary valve morphology (HP:0001641)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN7
Phenotype: Optic atrophy from cranial nerve compression (HP:0007958)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: CLCN7
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT (OMIM:618541)
Gene: CLCN7
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Splenomegaly (HP:0001744)
Associated disease: OSTEOPETROSIS,  AUTOSOMAL RECESSIVE 4 (OMIM:611490)
Gene: CLCN7
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN7
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Visual impairment (HP:0000505)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Visual impairment (HP:0000505)
Associated disease: OSTEOPETROSIS,  AUTOSOMAL RECESSIVE 4 (OMIM:611490)
Gene: CLCN7
Phenotype: Visual impairment (HP:0000505)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Visual impairment (HP:0000505)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: CLCN7
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Visual loss (HP:0000572)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 2 (OMIM:166600)
Gene: CLCN7
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Abnormal leukocyte morphology (HP:0001881)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN7
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: OSTEOPETROSIS,  AUTOSOMAL RECESSIVE 4 (OMIM:611490)
Gene: CLCN7
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: OSTEOPETROSIS,  AUTOSOMAL RECESSIVE 4 (OMIM:611490)
Gene: CLCN7
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: CLCNKA
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKA
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKA
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKA
Phenotype: Motor delay (HP:0001270)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKA
Phenotype: Motor delay (HP:0001270)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKA
Phenotype: Hypotonia (HP:0001252)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKA
Phenotype: Hypotonia (HP:0001252)
Associated disease: Bartter syndrome type IV; Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Gene: CLCNKA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKA
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKA
Phenotype: Digenic inheritance (HP:0010984)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKA
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKA
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: CLCNKA
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: CLCNKA
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: CLCNKA
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: CLCNKA
Phenotype: Renal salt wasting (HP:0000127)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKA
Phenotype: Polyuria (HP:0000103)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKA
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: CLCNKA
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: CLCNKA
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: CLCNKA
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: CLCNKA
Phenotype: Congenital onset (HP:0003577)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKA
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: CLCNKA
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: CLCNKA
Phenotype: Hypokalemic hypochloremic metabolic alkalosis (HP:0004909)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKA
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: CLCNKA
Phenotype: Hypernatriuria (HP:0012605)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKA
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: CLCNKA
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: CLCNKA
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: CLCNKA
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: CLCNKA
Phenotype: Increased urinary potassium (HP:0003081)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKA
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: CLCNKA
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: CLCNKA
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: CLCNKA
Phenotype: Hypochloremia (HP:0003113)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKA
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: CLCNKA
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKA
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: CLCNKA
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: CLCNKA
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: CLCNKA
Phenotype: Edema (HP:0000969)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKA
Phenotype: Decreased glomerular filtration rate (HP:0012213)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKA
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: CLCNKA
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKA
Phenotype: Fetal polyuria (HP:0001563)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKA
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: CLCNKA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKA
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: CLCNKA
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: CLCNKA
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: CLCNKA
Phenotype: Hyperchloriduria (HP:0002914)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKA
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: CLCNKA
Phenotype: Hyponatremia (HP:0002902)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKA
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: CLCNKA
Phenotype: Hypokalemia (HP:0002900)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKA
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: CLCNKA
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: CLCNKA
Phenotype: Premature birth (HP:0001622)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKA
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKA
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: Stage 5 chronic kidney disease (HP:0003774)
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: Bilateral sensorineural hearing impairment (HP:0008619)
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 hypotonia (HP:0001290)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKB
Phenotype: Motor delay (HP:0001270)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKB
Phenotype: Motor delay (HP:0001270)
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: Syncope (HP:0001279)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Hypotonia (HP:0001252)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKB
Phenotype: Hypotonia (HP:0001252)
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: Intellectual disability (HP:0001249)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKB
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKB
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Digenic inheritance (HP:0010984)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKB
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: CLCNKB
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Gene: CLCNKB
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: Gitelman syndrome (ORPHA:358)