TaoMedAI/RareMedData huggingface dataset:
Gene: NUP107
Phenotype: Abnormality of secondary sexual hair (HP:0009888)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NUP107
Phenotype: Aqueductal stenosis (HP:0002410)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP107
Phenotype: Hypertonia (HP:0001276)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP107
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: NUP107
Phenotype: Seizure (HP:0001250)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP107
Phenotype: Hypotonia (HP:0001252)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP107
Phenotype: Ataxia (HP:0001251)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NUP107
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP107
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEPHROTIC SYNDROME, TYPE 11 (OMIM:616730)
Gene: NUP107
Phenotype: Aplasia/hypoplasia of the uterus (HP:0008684)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NUP107
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP107
Phenotype: Variable expressivity (HP:0003828)
Associated disease: NEPHROTIC SYNDROME, TYPE 11 (OMIM:616730)
Gene: NUP107
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: NEPHROTIC SYNDROME, TYPE 11 (OMIM:616730)
Gene: NUP107
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: NUP107
Phenotype: Proteinuria (HP:0000093)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
Phenotype: Proteinuria (HP:0000093)
Associated disease: NEPHROTIC SYNDROME, TYPE 11 (OMIM:616730)
Gene: NUP107
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: NUP107
Phenotype: Proteinuria (HP:0000093)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP107
Phenotype: Renal tubular atrophy (HP:0000092)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
Phenotype: Renal tubular atrophy (HP:0000092)
Associated disease: NEPHROTIC SYNDROME, TYPE 11 (OMIM:616730)
Gene: NUP107
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NUP107
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: OVARIAN DYSGENESIS 6 (OMIM:618078)
Gene: NUP107
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OVARIAN DYSGENESIS 6 (OMIM:618078)
Gene: NUP107
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHROTIC SYNDROME, TYPE 11 (OMIM:616730)
Gene: NUP107
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP107
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP107
Phenotype: Cleft palate (HP:0000175)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
Phenotype: Cleft palate (HP:0000175)
Associated disease: NEPHROTIC SYNDROME, TYPE 11 (OMIM:616730)
Gene: NUP107
Phenotype: Decreased fertility (HP:0000144)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NUP107
Phenotype: Cleft lip (HP:0410030)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
Phenotype: Cleft lip (HP:0410030)
Associated disease: NEPHROTIC SYNDROME, TYPE 11 (OMIM:616730)
Gene: NUP107
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NUP107
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: NEPHROTIC SYNDROME, TYPE 11 (OMIM:616730)
Gene: NUP107
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP107
Phenotype: Nephropathy (HP:0000112)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP107
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NUP107
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP107
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: NUP107
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: NUP107
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP107
Phenotype: Absence of pubertal development (HP:0008197)
Associated disease: OVARIAN DYSGENESIS 6 (OMIM:618078)
Gene: NUP107
Phenotype: Streak ovary (HP:0010464)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NUP107
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP107
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NUP107
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NUP107
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP107
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NUP107
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NUP107
Phenotype: Hypoplasia of the ear cartilage (HP:0100720)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP107
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: NUP107
Phenotype: Progressive (HP:0003676)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
Phenotype: Progressive (HP:0003676)
Associated disease: NEPHROTIC SYNDROME, TYPE 11 (OMIM:616730)
Gene: NUP107
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP107
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: NUP107
Phenotype: Juvenile onset (HP:0003621)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
Phenotype: Juvenile onset (HP:0003621)
Associated disease: OVARIAN DYSGENESIS 6 (OMIM:618078)
Gene: NUP107
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: NUP107
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: NEPHROTIC SYNDROME, TYPE 11 (OMIM:616730)
Gene: NUP107
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
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: NUP107
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: NUP107
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NUP107
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP107
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: NEPHROTIC SYNDROME, TYPE 11 (OMIM:616730)
Gene: NUP107
Phenotype: Short stature (HP:0004322)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
Phenotype: Short stature (HP:0004322)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NUP107
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP107
Phenotype: Osteoporosis of vertebrae (HP:0005625)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NUP107
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: NEPHROTIC SYNDROME, TYPE 11 (OMIM:616730)
Gene: NUP107
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: NUP107
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP107
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NUP107
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
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: NUP107
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEPHROTIC SYNDROME, TYPE 11 (OMIM:616730)
Gene: NUP107
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: NUP107
Phenotype: IgA deposition in the glomerulus (HP:0000794)
Associated disease: NEPHROTIC SYNDROME, TYPE 11 (OMIM:616730)
Gene: NUP107
Phenotype: IgA deposition in the glomerulus (HP:0000794)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: OVARIAN DYSGENESIS 6 (OMIM:618078)
Gene: NUP107
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NUP107
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: NEPHROTIC SYNDROME, TYPE 11 (OMIM:616730)
Gene: NUP107
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NUP107
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NUP107
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: OVARIAN DYSGENESIS 6 (OMIM:618078)
Gene: NUP107
Phenotype: Delayed puberty (HP:0000823)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NUP107
Phenotype: Aplasia/Hypoplasia of the breasts (HP:0010311)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NUP107
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
Phenotype: Edema (HP:0000969)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
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: NUP107
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
Phenotype: Osteopenia (HP:0000938)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NUP107
Phenotype: Abnormal intervertebral disk morphology (HP:0005108)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP107
Phenotype: Clinodactyly (HP:0030084)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
Phenotype: Clinodactyly (HP:0030084)
Associated disease: NEPHROTIC SYNDROME, TYPE 11 (OMIM:616730)
Gene: NUP107
Phenotype: Microcephaly (HP:0000252)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
Phenotype: Microcephaly (HP:0000252)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NUP107
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP107
Phenotype: High palate (HP:0000218)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
Phenotype: High palate (HP:0000218)
Associated disease: NEPHROTIC SYNDROME, TYPE 11 (OMIM:616730)
Gene: NUP107
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP107
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: NUP107
Phenotype: Hearing impairment (HP:0000365)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NUP107
Phenotype: Narrow forehead (HP:0000341)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
Phenotype: Narrow forehead (HP:0000341)
Associated disease: NEPHROTIC SYNDROME, TYPE 11 (OMIM:616730)
Gene: NUP107
Phenotype: Sloping forehead (HP:0000340)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
Phenotype: Sloping forehead (HP:0000340)
Associated disease: NEPHROTIC SYNDROME, TYPE 11 (OMIM:616730)
Gene: NUP107
Phenotype: Micrognathia (HP:0000347)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
Phenotype: Micrognathia (HP:0000347)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP107
Phenotype: Micrognathia (HP:0000347)
Associated disease: NEPHROTIC SYNDROME, TYPE 11 (OMIM:616730)
Gene: NUP107
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: NEPHROTIC SYNDROME, TYPE 11 (OMIM:616730)
Gene: NUP107
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP107
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: NEPHROTIC SYNDROME, TYPE 11 (OMIM:616730)
Gene: NUP107
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: NEPHROTIC SYNDROME, TYPE 11 (OMIM:616730)
Gene: NUP107
Phenotype: Premature birth (HP:0001622)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP107
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
Phenotype: Macrotia (HP:0000400)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP107
Phenotype: Hallux valgus (HP:0001822)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)