TaoMedAI/RareMedData huggingface dataset:
Gene: CTCF
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Hypoplastic philtrum (HP:0005326)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Macrotia (HP:0000400)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Strabismus (HP:0000486)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Microcornea (HP:0000482)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Deeply set eye (HP:0000490)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Chronic constipation (HP:0012450)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Broad foot (HP:0001769)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Pes planus (HP:0001763)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Protruding ear (HP:0000411)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Phimosis (HP:0001741)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Pes cavus (HP:0001761)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Long eyelashes (HP:0000527)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Long eyelashes (HP:0000527)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Sandal gap (HP:0001852)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Ptosis (HP:0000508)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Short toe (HP:0001831)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Blue sclerae (HP:0000592)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: CTCF
Phenotype: Hypermetropia (HP:0000540)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Gene: CTCF
Phenotype: Hypermetropia (HP:0000540)
Associated disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Gene: FARS2
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: FARS2
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE (OMIM:617046)
Gene: FARS2
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Poor head control (HP:0002421)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: FARS2
Phenotype: Seizure (HP:0001250)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Seizure (HP:0001250)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: FARS2
Phenotype: Hypotonia (HP:0001252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: FARS2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE (OMIM:617046)
Gene: FARS2
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: FARS2
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE (OMIM:617046)
Gene: FARS2
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: FARS2
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Muscle abnormality related to mitochondrial dysfunction (HP:0003800)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Death in childhood (HP:0003819)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: FARS2
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Copper accumulation in liver (HP:0025321)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: FARS2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Dystonia (HP:0001332)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Absent speech (HP:0001344)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE (OMIM:617046)
Gene: FARS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: FARS2
Phenotype: Myoclonus (HP:0001336)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: FARS2
Phenotype: Myoclonus (HP:0001336)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Detrusor sphincter dyssynergia (HP:0025488)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: FARS2
Phenotype: Intention tremor (HP:0002080)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Neuromuscular dysphagia (HP:0002068)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: FARS2
Phenotype: Equinovarus deformity (HP:0008110)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Babinski sign (HP:0003487)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE (OMIM:617046)
Gene: FARS2
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE (OMIM:617046)
Gene: FARS2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: FARS2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: FARS2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: FARS2
Phenotype: Gliosis (HP:0002171)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: FARS2
Phenotype: Weakness due to upper motor neuron dysfunction (HP:0010549)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Paroxysmal dystonia (HP:0002268)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Middle age onset (HP:0003596)
Associated disease: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE (OMIM:617046)
Gene: FARS2
Phenotype: Insomnia (HP:0100785)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Progressive spastic paraplegia (HP:0007020)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: FARS2
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE (OMIM:617046)
Gene: FARS2
Phenotype: Developmental regression (HP:0002376)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: FARS2
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE (OMIM:617046)
Gene: FARS2
Phenotype: Elevated brain N-acetyl aspartate level by MRS (HP:0025053)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: FARS2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: FARS2
Phenotype: Anemia (HP:0001903)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: FARS2
Phenotype: Macrodontia of permanent maxillary central incisor (HP:0000675)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Basal ganglia gliosis (HP:0006999)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: FARS2
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: FARS2
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: FARS2
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE (OMIM:617046)
Gene: FARS2
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: FARS2
Phenotype: Retrognathia (HP:0000278)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Microcephaly (HP:0000252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: FARS2
Phenotype: Sudden episodic apnea (HP:0002882)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Death in infancy (HP:0001522)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: FARS2
Phenotype: Growth delay (HP:0001510)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: FARS2
Phenotype: Increased hepatic glycogen content (HP:0006568)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: FARS2
Phenotype: Impaired mastication (HP:0005216)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: FARS2
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: FARS2
Phenotype: Strabismus (HP:0000486)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Elevated hepatic iron concentration (HP:0012465)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: FARS2
Phenotype: Scissor gait (HP:0012407)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Ptosis (HP:0000508)
Associated disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Gene: FARS2
Phenotype: Visual impairment (HP:0000505)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: FARS2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Gene: AVIL
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHROTIC SYNDROME, TYPE 21 (OMIM:618594)
Gene: AVIL
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: AVIL
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: AVIL
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: AVIL
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: AVIL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHROTIC SYNDROME, TYPE 21 (OMIM:618594)
Gene: AVIL
Phenotype: Podocyte foot process effacement (HP:0031266)
Associated disease: NEPHROTIC SYNDROME, TYPE 21 (OMIM:618594)
Gene: AVIL
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: AVIL
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: AVIL
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: AVIL
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: AVIL
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: AVIL
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: NEPHROTIC SYNDROME, TYPE 21 (OMIM:618594)
Gene: AVIL
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: AVIL
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: AVIL
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: AVIL
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: AVIL
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: AVIL
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: AVIL
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: AVIL
Phenotype: Steroid-resistant nephrotic syndrome (HP:0012588)
Associated disease: NEPHROTIC SYNDROME, TYPE 21 (OMIM:618594)
Gene: AVIL
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: GNB5
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: GNB5-related intellectual disability-cardiac arrhythmia syndrome (ORPHA:542306)
Gene: GNB5
Phenotype: Poor head control (HP:0002421)
Associated disease: GNB5-related intellectual disability-cardiac arrhythmia syndrome (ORPHA:542306)
Gene: GNB5
Phenotype: Motor delay (HP:0001270)
Associated disease: LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA (OMIM:617182)
Gene: GNB5
Phenotype: Seizure (HP:0001250)
Associated disease: GNB5-related intellectual disability-cardiac arrhythmia syndrome (ORPHA:542306)
Gene: GNB5
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA (OMIM:617173)
Gene: GNB5
Phenotype: Seizure (HP:0001250)
Associated disease: LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA (OMIM:617182)
Gene: GNB5
Phenotype: Hypotonia (HP:0001252)
Associated disease: GNB5-related intellectual disability-cardiac arrhythmia syndrome (ORPHA:542306)
Gene: GNB5
Phenotype: Hypotonia (HP:0001252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA (OMIM:617173)
Gene: GNB5
Phenotype: Hypotonia (HP:0001252)
Associated disease: LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA (OMIM:617182)
Gene: GNB5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA (OMIM:617173)
Gene: GNB5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA (OMIM:617182)
Gene: GNB5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GNB5-related intellectual disability-cardiac arrhythmia syndrome (ORPHA:542306)
Gene: GNB5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA (OMIM:617173)
Gene: GNB5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA (OMIM:617182)
Gene: GNB5
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: GNB5-related intellectual disability-cardiac arrhythmia syndrome (ORPHA:542306)
Gene: GNB5
Phenotype: Absent speech (HP:0001344)
Associated disease: LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA (OMIM:617182)
Gene: GNB5
Phenotype: Absent speech (HP:0001344)
Associated disease: GNB5-related intellectual disability-cardiac arrhythmia syndrome (ORPHA:542306)
Gene: GNB5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA (OMIM:617173)