TaoMedAI/RareMedData huggingface dataset:
Gene: BSND
Phenotype: Hypotonia (HP:0001252)
Associated disease: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:602522)
Gene: BSND
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: BSND
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:602522)
Gene: BSND
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:602522)
Gene: BSND
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:602522)
Gene: BSND
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: BSND
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: BSND
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:602522)
Gene: BSND
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: BSND
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: BSND
Phenotype: Renal salt wasting (HP:0000127)
Associated disease: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:602522)
Gene: BSND
Phenotype: Polyuria (HP:0000103)
Associated disease: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:602522)
Gene: BSND
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: BSND
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: BSND
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: BSND
Phenotype: Global glomerulosclerosis (HP:0004737)
Associated disease: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:602522)
Gene: BSND
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: BSND
Phenotype: Impaired renal concentrating ability (HP:0004727)
Associated disease: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:602522)
Gene: BSND
Phenotype: Congenital onset (HP:0003577)
Associated disease: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:602522)
Gene: BSND
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: BSND
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: BSND
Phenotype: Hypokalemic hypochloremic metabolic alkalosis (HP:0004909)
Associated disease: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:602522)
Gene: BSND
Phenotype: Tubulointerstitial fibrosis (HP:0005576)
Associated disease: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:602522)
Gene: BSND
Phenotype: Reduced renal corticomedullary differentiation (HP:0005565)
Associated disease: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:602522)
Gene: BSND
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: BSND
Phenotype: Hypernatriuria (HP:0012605)
Associated disease: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:602522)
Gene: BSND
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: BSND
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: BSND
Phenotype: Polydipsia (HP:0001959)
Associated disease: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:602522)
Gene: BSND
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: BSND
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: BSND
Phenotype: Increased urinary potassium (HP:0003081)
Associated disease: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:602522)
Gene: BSND
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: BSND
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: BSND
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: BSND
Phenotype: Hypochloremia (HP:0003113)
Associated disease: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:602522)
Gene: BSND
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: BSND
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
Associated disease: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:602522)
Gene: BSND
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: BSND
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: BSND
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: BSND
Phenotype: Edema (HP:0000969)
Associated disease: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:602522)
Gene: BSND
Phenotype: Decreased glomerular filtration rate (HP:0012213)
Associated disease: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:602522)
Gene: BSND
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: BSND
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:602522)
Gene: BSND
Phenotype: Fetal polyuria (HP:0001563)
Associated disease: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:602522)
Gene: BSND
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: BSND
Phenotype: Failure to thrive (HP:0001508)
Associated disease: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:602522)
Gene: BSND
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: BSND
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: BSND
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: BSND
Phenotype: Hyperchloriduria (HP:0002914)
Associated disease: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:602522)
Gene: BSND
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: BSND
Phenotype: Hyponatremia (HP:0002902)
Associated disease: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:602522)
Gene: BSND
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: BSND
Phenotype: Hypokalemia (HP:0002900)
Associated disease: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:602522)
Gene: BSND
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: BSND
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: BSND
Phenotype: Premature birth (HP:0001622)
Associated disease: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:602522)
Gene: BSND
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:602522)
Gene: BSND
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:602522)
Gene: BSND
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: NPHS2
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NPHS2
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHROTIC SYNDROME, TYPE 2 (OMIM:600995)
Gene: NPHS2
Phenotype: Peritonitis (HP:0002586)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NPHS2
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NPHS2
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: NEPHROTIC SYNDROME, TYPE 2 (OMIM:600995)
Gene: NPHS2
Phenotype: Proteinuria (HP:0000093)
Associated disease: NEPHROTIC SYNDROME, TYPE 2 (OMIM:600995)
Gene: NPHS2
Phenotype: Proteinuria (HP:0000093)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NPHS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHROTIC SYNDROME, TYPE 2 (OMIM:600995)
Gene: NPHS2
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: NEPHROTIC SYNDROME, TYPE 2 (OMIM:600995)
Gene: NPHS2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NPHS2
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NPHS2
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NPHS2
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: NEPHROTIC SYNDROME, TYPE 2 (OMIM:600995)
Gene: NPHS2
Phenotype: Headache (HP:0002315)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NPHS2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEPHROTIC SYNDROME, TYPE 2 (OMIM:600995)
Gene: NPHS2
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NPHS2
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NPHS2
Phenotype: Fever (HP:0001945)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NPHS2
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: NEPHROTIC SYNDROME, TYPE 2 (OMIM:600995)
Gene: NPHS2
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NPHS2
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: NEPHROTIC SYNDROME, TYPE 2 (OMIM:600995)
Gene: NPHS2
Phenotype: Irritability (HP:0000737)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NPHS2
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NPHS2
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEPHROTIC SYNDROME, TYPE 2 (OMIM:600995)
Gene: NPHS2
Phenotype: Edema (HP:0000969)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NPHS2
Phenotype: Edema (HP:0000969)
Associated disease: NEPHROTIC SYNDROME, TYPE 2 (OMIM:600995)
Gene: NPHS2
Phenotype: Foamy urine (HP:0031504)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NPHS2
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PXDN
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PXDN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PXDN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 7 (OMIM:269400)
Gene: PXDN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PXDN
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PXDN
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PXDN
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 7 (OMIM:269400)
Gene: PXDN
Phenotype: Congenital onset (HP:0003577)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 7 (OMIM:269400)
Gene: PXDN
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 7 (OMIM:269400)
Gene: PXDN
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PXDN
Phenotype: Sclerocornea (HP:0000647)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 7 (OMIM:269400)
Gene: PXDN
Phenotype: Iris coloboma (HP:0000612)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 7 (OMIM:269400)
Gene: PXDN
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PXDN
Phenotype: Anterior synechiae of the anterior chamber (HP:0011483)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 7 (OMIM:269400)
Gene: PXDN
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PXDN
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PXDN
Phenotype: Ocular anterior segment dysgenesis (HP:0007700)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 7 (OMIM:269400)
Gene: PXDN
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PXDN
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PXDN
Phenotype: Corneal opacity (HP:0007957)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 7 (OMIM:269400)
Gene: PXDN
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 7 (OMIM:269400)
Gene: PXDN
Phenotype: Microcornea (HP:0000482)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 7 (OMIM:269400)
Gene: PXDN
Phenotype: Cataract (HP:0000518)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 7 (OMIM:269400)
Gene: PXDN
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PXDN
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PXDN
Phenotype: Buphthalmos (HP:0000557)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 7 (OMIM:269400)
Gene: PXDN
Phenotype: Microphthalmia (HP:0000568)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 7 (OMIM:269400)
Gene: PXDN
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PXDN
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ALMS1
Phenotype: Hepatic encephalopathy (HP:0002480)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ALMS1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Visual field defect (HP:0001123)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Severe sensorineural hearing impairment (HP:0008625)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Thickened ears (HP:0009894)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Receptive language delay (HP:0010863)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALMS1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALMS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Ataxia (HP:0001251)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Polyphagia (HP:0002591)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALMS1
Phenotype: Dorsocervical fat pad (HP:0025383)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Alström syndrome (ORPHA:64)