TaoMedAI/RareMedData huggingface dataset:
Gene: FSHR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OVARIAN HYPERSTIMULATION SYNDROME (OMIM:608115)
Gene: FSHR
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: FSHR
Phenotype: Ovarian cyst (HP:0000138)
Associated disease: OHSS; Ovarian hyperstimulation syndrome (ORPHA:64739)
Gene: FSHR
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: OVARIAN HYPERSTIMULATION SYNDROME (OMIM:608115)
Gene: FSHR
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: FSHR
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: OVARIAN DYSGENESIS 1 (OMIM:233300)
Gene: FSHR
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: FSHR
Phenotype: Nausea (HP:0002018)
Associated disease: OVARIAN HYPERSTIMULATION SYNDROME (OMIM:608115)
Gene: FSHR
Phenotype: Nausea (HP:0002018)
Associated disease: OHSS; Ovarian hyperstimulation syndrome (ORPHA:64739)
Gene: FSHR
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: OHSS; Ovarian hyperstimulation syndrome (ORPHA:64739)
Gene: FSHR
Phenotype: Abdominal pain (HP:0002027)
Associated disease: OVARIAN HYPERSTIMULATION SYNDROME (OMIM:608115)
Gene: FSHR
Phenotype: Abdominal pain (HP:0002027)
Associated disease: OHSS; Ovarian hyperstimulation syndrome (ORPHA:64739)
Gene: FSHR
Phenotype: Pulmonary edema (HP:0100598)
Associated disease: OHSS; Ovarian hyperstimulation syndrome (ORPHA:64739)
Gene: FSHR
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: FSHR
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: FSHR
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: FSHR
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: FSHR
Phenotype: Pleural effusion (HP:0002202)
Associated disease: OHSS; Ovarian hyperstimulation syndrome (ORPHA:64739)
Gene: FSHR
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: FSHR
Phenotype: Hirsutism (HP:0001007)
Associated disease: OHSS; Ovarian hyperstimulation syndrome (ORPHA:64739)
Gene: FSHR
Phenotype: Juvenile onset (HP:0003621)
Associated disease: OVARIAN DYSGENESIS 1 (OMIM:233300)
Gene: FSHR
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: FSHR
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: FSHR
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: FSHR
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: FSHR
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: OVARIAN DYSGENESIS 1 (OMIM:233300)
Gene: FSHR
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: FSHR
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: FSHR
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: OHSS; Ovarian hyperstimulation syndrome (ORPHA:64739)
Gene: FSHR
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: FSHR
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: OVARIAN DYSGENESIS 1 (OMIM:233300)
Gene: FSHR
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: FSHR
Phenotype: Hemorrhagic ovarian cyst (HP:0012886)
Associated disease: OHSS; Ovarian hyperstimulation syndrome (ORPHA:64739)
Gene: FSHR
Phenotype: Abdominal distention (HP:0003270)
Associated disease: OHSS; Ovarian hyperstimulation syndrome (ORPHA:64739)
Gene: FSHR
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: FSHR
Phenotype: Osteoporosis (HP:0000939)
Associated disease: OVARIAN DYSGENESIS 1 (OMIM:233300)
Gene: FSHR
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: FSHR
Phenotype: Increased serum testosterone level (HP:0030088)
Associated disease: OHSS; Ovarian hyperstimulation syndrome (ORPHA:64739)
Gene: FSHR
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: FSHR
Phenotype: Capillary leak (HP:0030005)
Associated disease: OHSS; Ovarian hyperstimulation syndrome (ORPHA:64739)
Gene: FSHR
Phenotype: Ascites (HP:0001541)
Associated disease: OVARIAN HYPERSTIMULATION SYNDROME (OMIM:608115)
Gene: FSHR
Phenotype: Ascites (HP:0001541)
Associated disease: OHSS; Ovarian hyperstimulation syndrome (ORPHA:64739)
Gene: FSHR
Phenotype: Peripheral edema (HP:0012398)
Associated disease: OHSS; Ovarian hyperstimulation syndrome (ORPHA:64739)
Gene: FSHR
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: FSHR
Phenotype: Hypovolemia (HP:0011106)
Associated disease: OHSS; Ovarian hyperstimulation syndrome (ORPHA:64739)
Gene: FTH1
Phenotype: Eye of the tiger anomaly of globus pallidus (HP:0002454)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Dysarthria (HP:0001260)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Abnormal circulating transferrin concentration (HP:0032385)
Associated disease: HEMOCHROMATOSIS, TYPE 5 (OMIM:615517)
Gene: FTH1
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HEMOCHROMATOSIS, TYPE 5 (OMIM:615517)
Gene: FTH1
Phenotype: Dysmetria (HP:0001310)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Dysphagia (HP:0002015)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Abnormal circulating ceruloplasmin concentration (HP:0033144)
Associated disease: HEMOCHROMATOSIS, TYPE 5 (OMIM:615517)
Gene: FTH1
Phenotype: Increased circulating iron concentration (HP:0003452)
Associated disease: HEMOCHROMATOSIS, TYPE 5 (OMIM:615517)
Gene: FTH1
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Adult onset (HP:0003581)
Associated disease: HEMOCHROMATOSIS, TYPE 5 (OMIM:615517)
Gene: FTH1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Abnormal circulating copper concentration (HP:0010836)
Associated disease: HEMOCHROMATOSIS, TYPE 5 (OMIM:615517)
Gene: FTH1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Athetosis (HP:0002305)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Anemia (HP:0001903)
Associated disease: HEMOCHROMATOSIS, TYPE 5 (OMIM:615517)
Gene: FTH1
Phenotype: Iron accumulation in brain (HP:0012675)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Abnormal circulating iron concentration (HP:0040130)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: HEMOCHROMATOSIS, TYPE 5 (OMIM:615517)
Gene: FTH1
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Decreased circulating ferritin concentration (HP:0012343)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Elevated transferrin saturation (HP:0012463)
Associated disease: HEMOCHROMATOSIS, TYPE 5 (OMIM:615517)
Gene: FTH1
Phenotype: Decreased transferrin saturation (HP:0012464)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTH1
Phenotype: Elevated hepatic iron concentration (HP:0012465)
Associated disease: HEMOCHROMATOSIS, TYPE 5 (OMIM:615517)
Gene: FTH1
Phenotype: Hot cross bun sign (HP:0041056)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Gene: FTL
Phenotype: Eye of the tiger anomaly of globus pallidus (HP:0002454)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Anterior subcapsular cataract (HP:0010923)
Associated disease: HYPERFERRITINEMIA WITH OR WITHOUT CATARACT (OMIM:600886)
Gene: FTL
Phenotype: Anarthria (HP:0002425)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (OMIM:606159)
Gene: FTL
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (OMIM:606159)
Gene: FTL
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (OMIM:606159)
Gene: FTL
Phenotype: Dysarthria (HP:0001260)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Dysarthria (HP:0001260)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (OMIM:606159)
Gene: FTL
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (OMIM:606159)
Gene: FTL
Phenotype: Upper limb hyperreflexia (HP:0007350)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Laryngeal dystonia (HP:0012049)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (OMIM:606159)
Gene: FTL
Phenotype: Upgaze palsy (HP:0025331)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (OMIM:606159)
Gene: FTL
Phenotype: Dystonia (HP:0001332)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (OMIM:606159)
Gene: FTL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: L-FERRITIN DEFICIENCY (OMIM:615604)
Gene: FTL
Phenotype: Tremor (HP:0001337)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (OMIM:606159)
Gene: FTL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERFERRITINEMIA WITH OR WITHOUT CATARACT (OMIM:600886)
Gene: FTL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (OMIM:606159)
Gene: FTL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: L-FERRITIN DEFICIENCY (OMIM:615604)
Gene: FTL
Phenotype: Parkinsonism (HP:0001300)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (OMIM:606159)
Gene: FTL
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Dysphagia (HP:0002015)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Dysphagia (HP:0002015)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (OMIM:606159)
Gene: FTL
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Bradykinesia (HP:0002067)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (OMIM:606159)
Gene: FTL
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Rigidity (HP:0002063)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (OMIM:606159)
Gene: FTL
Phenotype: Chorea (HP:0002072)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (OMIM:606159)
Gene: FTL
Phenotype: Chorea (HP:0002072)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Babinski sign (HP:0003487)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Babinski sign (HP:0003487)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (OMIM:606159)
Gene: FTL
Phenotype: Abnormal basal ganglia morphology (HP:0002134)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (OMIM:606159)
Gene: FTL
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: L-FERRITIN DEFICIENCY (OMIM:615604)
Gene: FTL
Phenotype: Palatal tremor (HP:0010530)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Middle age onset (HP:0003596)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (OMIM:606159)
Gene: FTL
Phenotype: Adult onset (HP:0003581)
Associated disease: HYPERFERRITINEMIA WITH OR WITHOUT CATARACT (OMIM:600886)
Gene: FTL
Phenotype: Pulverulent cataract (HP:0010693)
Associated disease: HYPERFERRITINEMIA WITH OR WITHOUT CATARACT (OMIM:600886)
Gene: FTL
Phenotype: Cavitation of the basal ganglia (HP:0007007)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (OMIM:606159)
Gene: FTL
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Progressive (HP:0003676)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (OMIM:606159)
Gene: FTL
Phenotype: Caudate atrophy (HP:0002340)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Abnormal caudate nucleus morphology (HP:0002339)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Writer's cramp (HP:0002356)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (OMIM:606159)
Gene: FTL
Phenotype: Writer's cramp (HP:0002356)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Resting tremor (HP:0002322)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Dyskinesia (HP:0100660)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (OMIM:606159)
Gene: FTL
Phenotype: Subcortical dementia (HP:0007123)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (OMIM:606159)
Gene: FTL
Phenotype: Subcortical dementia (HP:0007123)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Mutism (HP:0002300)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (OMIM:606159)
Gene: FTL
Phenotype: Orofacial dyskinesia (HP:0002310)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Juvenile onset (HP:0003621)
Associated disease: L-FERRITIN DEFICIENCY (OMIM:615604)
Gene: FTL
Phenotype: Blepharospasm (HP:0000643)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (OMIM:606159)
Gene: FTL
Phenotype: Blepharospasm (HP:0000643)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: Hereditary hyperferritinemia-cataract syndrome; Hereditary hyperferritinemia with cataracts; Hereditary hyperferritinemia-cataract disease; HHCS (ORPHA:163)