TaoMedAI/RareMedData huggingface dataset:
Gene: GRIN2B
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27 (OMIM:616139)
Gene: GRIN2B
Phenotype: Infantile spasms (HP:0012469)
Associated disease:  (ORPHA:697160)
Gene: GRIN2B
Phenotype: Infantile spasms (HP:0012469)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27 (OMIM:616139)
Gene: GRIN2B
Phenotype: Abnormal skin morphology (HP:0011121)
Associated disease:  (ORPHA:697160)
Gene: GRIN2B
Phenotype: Pes planus (HP:0001763)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES (OMIM:613970)
Gene: GRIN2B
Phenotype: Choanal atresia (HP:0000453)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES (OMIM:613970)
Gene: GRIN2D
Phenotype: Poor head control (HP:0002421)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Seizure (HP:0001250)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46 (OMIM:617162)
Gene: GRIN2D
Phenotype: Ataxia (HP:0001251)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46 (OMIM:617162)
Gene: GRIN2D
Phenotype: Spasticity (HP:0001257)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46 (OMIM:617162)
Gene: GRIN2D
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46 (OMIM:617162)
Gene: GRIN2D
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46 (OMIM:617162)
Gene: GRIN2D
Phenotype: Tremor (HP:0001337)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Tremor (HP:0001337)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46 (OMIM:617162)
Gene: GRIN2D
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46 (OMIM:617162)
Gene: GRIN2D
Phenotype: Myoclonus (HP:0001336)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46 (OMIM:617162)
Gene: GRIN2D
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Dysphagia (HP:0002015)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46 (OMIM:617162)
Gene: GRIN2D
Phenotype: Rigidity (HP:0002063)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46 (OMIM:617162)
Gene: GRIN2D
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46 (OMIM:617162)
Gene: GRIN2D
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46 (OMIM:617162)
Gene: GRIN2D
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46 (OMIM:617162)
Gene: GRIN2D
Phenotype: Impulsivity (HP:0100710)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46 (OMIM:617162)
Gene: GRIN2D
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46 (OMIM:617162)
Gene: GRIN2D
Phenotype: Developmental regression (HP:0002376)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: EEG with multifocal slow activity (HP:0010844)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46 (OMIM:617162)
Gene: GRIN2D
Phenotype: Drooling (HP:0002307)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46 (OMIM:617162)
Gene: GRIN2D
Phenotype: Nystagmus (HP:0000639)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Hypodontia (HP:0000668)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Short stature (HP:0004322)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Autism (HP:0000717)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Abnormality of coordination (HP:0011443)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Microcephaly (HP:0000252)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46 (OMIM:617162)
Gene: GRIN2D
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46 (OMIM:617162)
Gene: GRIN2D
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Failure to thrive (HP:0001508)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46 (OMIM:617162)
Gene: GRIN2D
Phenotype: High forehead (HP:0000348)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Pes planus (HP:0001763)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46 (OMIM:617162)
Gene: GRIN2D
Phenotype: Ptosis (HP:0000508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GRIN2D
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NR3C1
Phenotype: Visual field defect (HP:0001123)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Livedo reticularis (HP:0033505)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Stroke (HP:0001297)
Associated disease: Generalized glucocorticoid resistance syndrome (ORPHA:786)
Gene: NR3C1
Phenotype: Stroke (HP:0001297)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Panic attack (HP:0025269)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Dorsocervical fat pad (HP:0025383)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Increased circulating androstenedione concentration (HP:0025380)
Associated disease: GLUCOCORTICOID RESISTANCE, GENERALIZED (OMIM:615962)
Gene: NR3C1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Generalized glucocorticoid resistance syndrome (ORPHA:786)
Gene: NR3C1
Phenotype: Increased urinary cortisol level (HP:0012030)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Increased urinary cortisol level (HP:0012030)
Associated disease: Generalized glucocorticoid resistance syndrome (ORPHA:786)
Gene: NR3C1
Phenotype: Large sella turcica (HP:0002690)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GLUCOCORTICOID RESISTANCE, GENERALIZED (OMIM:615962)
Gene: NR3C1
Phenotype: Amenorrhea (HP:0000141)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Flushing (HP:0031284)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Moon facies (HP:0500011)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Impaired glucose tolerance (HP:0040270)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Female pseudohermaphroditism (HP:0010458)
Associated disease: Generalized glucocorticoid resistance syndrome (ORPHA:786)
Gene: NR3C1
Phenotype: Paradoxical increased cortisol secretion on dexamethasone suppression test (HP:0003466)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Adrenal hyperplasia (HP:0008221)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Adrenal hyperplasia (HP:0008221)
Associated disease: Generalized glucocorticoid resistance syndrome (ORPHA:786)
Gene: NR3C1
Phenotype: Pituitary corticotropic cell adenoma (HP:0008291)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Metabolic alkalosis (HP:0200114)
Associated disease: GLUCOCORTICOID RESISTANCE, GENERALIZED (OMIM:615962)
Gene: NR3C1
Phenotype: Metabolic alkalosis (HP:0200114)
Associated disease: Generalized glucocorticoid resistance syndrome (ORPHA:786)
Gene: NR3C1
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Frontal balding (HP:0002292)
Associated disease: Generalized glucocorticoid resistance syndrome (ORPHA:786)
Gene: NR3C1
Phenotype: Paranoia (HP:0011999)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Poor wound healing (HP:0001058)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Plethora (HP:0001050)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Capillary fragility (HP:0025017)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Striae distensae (HP:0001065)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Acne (HP:0001061)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Acne (HP:0001061)
Associated disease: Generalized glucocorticoid resistance syndrome (ORPHA:786)
Gene: NR3C1
Phenotype: Hirsutism (HP:0001007)
Associated disease: Generalized glucocorticoid resistance syndrome (ORPHA:786)
Gene: NR3C1
Phenotype: Hirsutism (HP:0001007)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Hirsutism (HP:0001007)
Associated disease: GLUCOCORTICOID RESISTANCE, GENERALIZED (OMIM:615962)
Gene: NR3C1
Phenotype: Memory impairment (HP:0002354)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Headache (HP:0002315)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Pedal edema (HP:0010741)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Abnormal libido (HP:0031845)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Decreased total eosinophil count (HP:0031891)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: GLUCOCORTICOID RESISTANCE, GENERALIZED (OMIM:615962)
Gene: NR3C1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Generalized glucocorticoid resistance syndrome (ORPHA:786)
Gene: NR3C1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Recurrent cutaneous fungal infections (HP:0011370)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)