TaoMedAI/RareMedData huggingface dataset:
Gene: PAX1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: PAX1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: OTOFACIOCERVICAL SYNDROME 2 (OMIM:615560)
Gene: PAX1
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: PAX1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: PAX1
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: PAX1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OTOFACIOCERVICAL SYNDROME 2 (OMIM:615560)
Gene: PAX1
Phenotype: Lacrimal duct stenosis (HP:0007678)
Associated disease: OTOFACIOCERVICAL SYNDROME 2 (OMIM:615560)
Gene: PAX1
Phenotype: Renal cyst (HP:0000107)
Associated disease: OTOFACIOCERVICAL SYNDROME 2 (OMIM:615560)
Gene: PAX1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: PAX1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: PAX1
Phenotype: Abnormal antihelix morphology (HP:0009738)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: PAX1
Phenotype: Scapular winging (HP:0003691)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: PAX1
Phenotype: Scapular winging (HP:0003691)
Associated disease: OTOFACIOCERVICAL SYNDROME 2 (OMIM:615560)
Gene: PAX1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: OTOFACIOCERVICAL SYNDROME 2 (OMIM:615560)
Gene: PAX1
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: PAX1
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: OTOFACIOCERVICAL SYNDROME 2 (OMIM:615560)
Gene: PAX1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: OTOFACIOCERVICAL SYNDROME 2 (OMIM:615560)
Gene: PAX1
Phenotype: Carious teeth (HP:0000670)
Associated disease: OTOFACIOCERVICAL SYNDROME 2 (OMIM:615560)
Gene: PAX1
Phenotype: Short stature (HP:0004322)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: PAX1
Phenotype: Periorbital dermoid cyst (HP:0030668)
Associated disease: OTOFACIOCERVICAL SYNDROME 2 (OMIM:615560)
Gene: PAX1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: OTOFACIOCERVICAL SYNDROME 2 (OMIM:615560)
Gene: PAX1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: PAX1
Phenotype: Abnormal clavicle morphology (HP:0000889)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: PAX1
Phenotype: Full cheeks (HP:0000293)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: PAX1
Phenotype: Mastoiditis (HP:0000265)
Associated disease: OTOFACIOCERVICAL SYNDROME 2 (OMIM:615560)
Gene: PAX1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: OTOFACIOCERVICAL SYNDROME 2 (OMIM:615560)
Gene: PAX1
Phenotype: High palate (HP:0000218)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: PAX1
Phenotype: Cupped ear (HP:0000378)
Associated disease: OTOFACIOCERVICAL SYNDROME 2 (OMIM:615560)
Gene: PAX1
Phenotype: Low-set ears (HP:0000369)
Associated disease: OTOFACIOCERVICAL SYNDROME 2 (OMIM:615560)
Gene: PAX1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: PAX1
Phenotype: Microretrognathia (HP:0000308)
Associated disease: OTOFACIOCERVICAL SYNDROME 2 (OMIM:615560)
Gene: PAX1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: PAX1
Phenotype: Macrotia (HP:0000400)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: PAX1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: PAX1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: PAX1
Phenotype: Protruding ear (HP:0000411)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: PAX1
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: OTOFACIOCERVICAL SYNDROME 2 (OMIM:615560)
Gene: PAX1
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: PAX1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: OTOFACIOCERVICAL SYNDROME 2 (OMIM:615560)
Gene: PAX1
Phenotype: Alacrima (HP:0000522)
Associated disease: OTOFACIOCERVICAL SYNDROME 2 (OMIM:615560)
Gene: PAX1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: OTOFACIOCERVICAL SYNDROME 2 (OMIM:615560)
Gene: PAX1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: OTOFACIOCERVICAL SYNDROME 2 (OMIM:615560)
Gene: PAX2
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PAX2
Phenotype: Orbital cyst (HP:0001144)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
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: PAX2
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 (OMIM:616002)
Gene: PAX2
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
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: PAX2
Phenotype: Lethargy (HP:0001254)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PAX2
Phenotype: Seizure (HP:0001250)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 (OMIM:616002)
Gene: PAX2
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PAX2
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Renal coloboma syndrome; Papillo-renal syndrome; Coloboma of optic nerve with renal disease (ORPHA:1475)
Gene: PAX2
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 (OMIM:616002)
Gene: PAX2
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Renal coloboma syndrome; Papillo-renal syndrome; Coloboma of optic nerve with renal disease (ORPHA:1475)
Gene: PAX2
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 (OMIM:616002)
Gene: PAX2
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: PAX2
Phenotype: Proteinuria (HP:0000093)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 (OMIM:616002)
Gene: PAX2
Phenotype: Proteinuria (HP:0000093)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PAX2
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: PAX2
Phenotype: Proteinuria (HP:0000093)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PAX2
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Renal coloboma syndrome; Papillo-renal syndrome; Coloboma of optic nerve with renal disease (ORPHA:1475)
Gene: PAX2
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Renal coloboma syndrome; Papillo-renal syndrome; Coloboma of optic nerve with renal disease (ORPHA:1475)
Gene: PAX2
Phenotype: Lens luxation (HP:0012019)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PAX2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PAX2
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Renal coloboma syndrome; Papillo-renal syndrome; Coloboma of optic nerve with renal disease (ORPHA:1475)
Gene: PAX2
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PAX2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 (OMIM:616002)
Gene: PAX2
Phenotype: Scoliosis (HP:0002650)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PAX2
Phenotype: Beta 2-microglobulinuria (HP:0025466)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PAX2
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PAX2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PAX2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 (OMIM:616002)
Gene: PAX2
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: Renal coloboma syndrome; Papillo-renal syndrome; Coloboma of optic nerve with renal disease (ORPHA:1475)
Gene: PAX2
Phenotype: Renal cyst (HP:0000107)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PAX2
Phenotype: Renal cyst (HP:0000107)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
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: PAX2
Phenotype: Potter facies (HP:0002009)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PAX2
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: PAX2
Phenotype: Oliguria (HP:0100520)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PAX2
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PAX2
Phenotype: Gliosis (HP:0002171)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Renal malrotation (HP:0004712)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Congenital onset (HP:0003577)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Adult onset (HP:0003581)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 (OMIM:616002)
Gene: PAX2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PAX2
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: PAX2
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
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: PAX2
Phenotype: Optic nerve dysplasia (HP:0001093)
Associated disease: Renal coloboma syndrome; Papillo-renal syndrome; Coloboma of optic nerve with renal disease (ORPHA:1475)
Gene: PAX2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PAX2
Phenotype: Absence of renal corticomedullary differentiation (HP:0005564)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PAX2
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: PAX2
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Renal coloboma syndrome; Papillo-renal syndrome; Coloboma of optic nerve with renal disease (ORPHA:1475)
Gene: PAX2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PAX2
Phenotype: Nystagmus (HP:0000639)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
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: PAX2
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: PAX2
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PAX2
Phenotype: Macular degeneration (HP:0000608)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Anemia (HP:0001903)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PAX2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PAX2
Phenotype: Short stature (HP:0004322)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PAX2
Phenotype: Short stature (HP:0004322)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Glycosuria (HP:0003076)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PAX2
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: PAX2
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: PAX2
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: PAX2
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PAX2
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PAX2
Phenotype: Hematuria (HP:0000790)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PAX2
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Macular hyperpigmentation (HP:0011509)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Hypertension (HP:0000822)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PAX2
Phenotype: Hypertension (HP:0000822)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Scleral staphyloma (HP:0030854)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Soft skin (HP:0000977)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Edema (HP:0000969)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PAX2
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: PAX2
Phenotype: Edema (HP:0000969)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PAX2
Phenotype: Decreased glomerular filtration rate (HP:0012213)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PAX2
Phenotype: Morning glory anomaly (HP:0025514)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PAX2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PAX2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PAX2
Phenotype: Growth delay (HP:0001510)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PAX2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PAX2
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: PAX2
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PAX2
Phenotype: Hyponatremia (HP:0002902)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PAX2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Renal coloboma syndrome; Papillo-renal syndrome; Coloboma of optic nerve with renal disease (ORPHA:1475)
Gene: PAX2
Phenotype: High myopia (HP:0011003)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Premature birth (HP:0001622)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PAX2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Astigmatism (HP:0000483)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PAX2
Phenotype: Strabismus (HP:0000486)
Associated disease: Renal coloboma syndrome; Papillo-renal syndrome; Coloboma of optic nerve with renal disease (ORPHA:1475)
Gene: PAX2
Phenotype: Strabismus (HP:0000486)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Retinal coloboma (HP:0000480)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Retinal coloboma (HP:0000480)
Associated disease: Renal coloboma syndrome; Papillo-renal syndrome; Coloboma of optic nerve with renal disease (ORPHA:1475)
Gene: PAX2
Phenotype: Cataract (HP:0000518)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PAX2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Renal coloboma syndrome; Papillo-renal syndrome; Coloboma of optic nerve with renal disease (ORPHA:1475)
Gene: PAX2
Phenotype: Mild proteinuria (HP:0012595)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
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: PAX2
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PAX2
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: Renal coloboma syndrome; Papillo-renal syndrome; Coloboma of optic nerve with renal disease (ORPHA:1475)
Gene: PAX2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Retinal detachment (HP:0000541)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PAX2
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: PAPILLORENAL SYNDROME (OMIM:120330)
Gene: PAX2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PAX2
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PAX2
Phenotype: Myopia (HP:0000545)
Associated disease: Renal coloboma syndrome; Papillo-renal syndrome; Coloboma of optic nerve with renal disease (ORPHA:1475)
Gene: PAX3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Abnormal finger morphology (HP:0001167)
Associated disease: Waardenburg syndrome type 3; Klein-Waardenburg syndrome; WS3; Waardenburg syndrome type III; Waardenburg syndrome with limb anomalies (ORPHA:896)
Gene: PAX3
Phenotype: Myelomeningocele (HP:0002475)
Associated disease: WAARDENBURG SYNDROME, TYPE 1 (OMIM:193500)