TaoMedAI/RareMedData huggingface dataset:
Gene: NR3C1
Phenotype: Increased body weight (HP:0004324)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Decreased circulating aldosterone concentration (HP:0004319)
Associated disease: Generalized glucocorticoid resistance syndrome (ORPHA:786)
Gene: NR3C1
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Anxiety (HP:0000739)
Associated disease: GLUCOCORTICOID RESISTANCE, GENERALIZED (OMIM:615962)
Gene: NR3C1
Phenotype: Depression (HP:0000716)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Emotional lability (HP:0000712)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Dementia (HP:0000726)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Psychotic episodes (HP:0000725)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Psychosis (HP:0000709)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Young adult onset (HP:0011462)
Associated disease: GLUCOCORTICOID RESISTANCE, GENERALIZED (OMIM:615962)
Gene: NR3C1
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: Generalized glucocorticoid resistance syndrome (ORPHA:786)
Gene: NR3C1
Phenotype: Infertility (HP:0000789)
Associated disease: Generalized glucocorticoid resistance syndrome (ORPHA:786)
Gene: NR3C1
Phenotype: Infertility (HP:0000789)
Associated disease: GLUCOCORTICOID RESISTANCE, GENERALIZED (OMIM:615962)
Gene: NR3C1
Phenotype: Increased circulating cortisol level (HP:0003118)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Increased circulating cortisol level (HP:0003118)
Associated disease: Generalized glucocorticoid resistance syndrome (ORPHA:786)
Gene: NR3C1
Phenotype: Increased circulating cortisol level (HP:0003118)
Associated disease: GLUCOCORTICOID RESISTANCE, GENERALIZED (OMIM:615962)
Gene: NR3C1
Phenotype: Increased circulating ACTH level (HP:0003154)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Increased circulating ACTH level (HP:0003154)
Associated disease: Generalized glucocorticoid resistance syndrome (ORPHA:786)
Gene: NR3C1
Phenotype: Increased circulating ACTH level (HP:0003154)
Associated disease: GLUCOCORTICOID RESISTANCE, GENERALIZED (OMIM:615962)
Gene: NR3C1
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: Generalized glucocorticoid resistance syndrome (ORPHA:786)
Gene: NR3C1
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: GLUCOCORTICOID RESISTANCE, GENERALIZED (OMIM:615962)
Gene: NR3C1
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Generalized glucocorticoid resistance syndrome (ORPHA:786)
Gene: NR3C1
Phenotype: Hypertension (HP:0000822)
Associated disease: Generalized glucocorticoid resistance syndrome (ORPHA:786)
Gene: NR3C1
Phenotype: Hypertension (HP:0000822)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Hypertension (HP:0000822)
Associated disease: GLUCOCORTICOID RESISTANCE, GENERALIZED (OMIM:615962)
Gene: NR3C1
Phenotype: Intra-oral hyperpigmentation (HP:0010284)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Purpura (HP:0000979)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Thin skin (HP:0000963)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Abnormal circulating testosterone concentration (HP:0030087)
Associated disease: Generalized glucocorticoid resistance syndrome (ORPHA:786)
Gene: NR3C1
Phenotype: Increased serum testosterone level (HP:0030088)
Associated disease: GLUCOCORTICOID RESISTANCE, GENERALIZED (OMIM:615962)
Gene: NR3C1
Phenotype: Ecchymosis (HP:0031364)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Fatigue (HP:0012378)
Associated disease: GLUCOCORTICOID RESISTANCE, GENERALIZED (OMIM:615962)
Gene: NR3C1
Phenotype: Fatigue (HP:0012378)
Associated disease: Generalized glucocorticoid resistance syndrome (ORPHA:786)
Gene: NR3C1
Phenotype: Fatiguable weakness of proximal limb muscles (HP:0030200)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Generalized glucocorticoid resistance syndrome (ORPHA:786)
Gene: NR3C1
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Suicidal ideation (HP:0031589)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: NR3C1
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: GRM1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 (OMIM:614831)
Gene: GRM1
Phenotype: Limb dysmetria (HP:0002406)
Associated disease: Autosomal recessive spinocerebellar ataxia type 13; SCAR13; Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency; Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency (ORPHA:324262)
Gene: GRM1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA 44 (OMIM:617691)
Gene: GRM1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 (OMIM:614831)
Gene: GRM1
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 (OMIM:614831)
Gene: GRM1
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: Autosomal recessive spinocerebellar ataxia type 13; SCAR13; Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency; Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency (ORPHA:324262)
Gene: GRM1
Phenotype: Motor delay (HP:0001270)
Associated disease: SPINOCEREBELLAR ATAXIA 44 (OMIM:617691)
Gene: GRM1
Phenotype: Seizure (HP:0001250)
Associated disease: Autosomal recessive spinocerebellar ataxia type 13; SCAR13; Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency; Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency (ORPHA:324262)
Gene: GRM1
Phenotype: Seizure (HP:0001250)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 (OMIM:614831)
Gene: GRM1
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA 44 (OMIM:617691)
Gene: GRM1
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 (OMIM:614831)
Gene: GRM1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Autosomal recessive spinocerebellar ataxia type 13; SCAR13; Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency; Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency (ORPHA:324262)
Gene: GRM1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 (OMIM:614831)
Gene: GRM1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 44 (OMIM:617691)
Gene: GRM1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 (OMIM:614831)
Gene: GRM1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 (OMIM:614831)
Gene: GRM1
Phenotype: Spasticity (HP:0001257)
Associated disease: SPINOCEREBELLAR ATAXIA 44 (OMIM:617691)
Gene: GRM1
Phenotype: Hypermetric saccades (HP:0007338)
Associated disease: SPINOCEREBELLAR ATAXIA 44 (OMIM:617691)
Gene: GRM1
Phenotype: Inability to walk (HP:0002540)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 (OMIM:614831)
Gene: GRM1
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: SPINOCEREBELLAR ATAXIA 44 (OMIM:617691)
Gene: GRM1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 (OMIM:614831)
Gene: GRM1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Autosomal recessive spinocerebellar ataxia type 13; SCAR13; Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency; Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency (ORPHA:324262)
Gene: GRM1
Phenotype: Absent speech (HP:0001344)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 (OMIM:614831)
Gene: GRM1
Phenotype: Absent speech (HP:0001344)
Associated disease: Autosomal recessive spinocerebellar ataxia type 13; SCAR13; Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency; Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency (ORPHA:324262)
Gene: GRM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 (OMIM:614831)
Gene: GRM1
Phenotype: Tremor (HP:0001337)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 (OMIM:614831)
Gene: GRM1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 44 (OMIM:617691)
Gene: GRM1
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 (OMIM:614831)
Gene: GRM1
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPINOCEREBELLAR ATAXIA 44 (OMIM:617691)
Gene: GRM1
Phenotype: Dysmetria (HP:0001310)
Associated disease: Autosomal recessive spinocerebellar ataxia type 13; SCAR13; Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency; Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency (ORPHA:324262)
Gene: GRM1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 (OMIM:614831)
Gene: GRM1
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPINOCEREBELLAR ATAXIA 44 (OMIM:617691)
Gene: GRM1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 (OMIM:614831)
Gene: GRM1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA 44 (OMIM:617691)
Gene: GRM1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Autosomal recessive spinocerebellar ataxia type 13; SCAR13; Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency; Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency (ORPHA:324262)
Gene: GRM1
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: SPINOCEREBELLAR ATAXIA 44 (OMIM:617691)
Gene: GRM1
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 (OMIM:614831)
Gene: GRM1
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: Autosomal recessive spinocerebellar ataxia type 13; SCAR13; Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency; Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency (ORPHA:324262)
Gene: GRM1
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 (OMIM:614831)
Gene: GRM1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Autosomal recessive spinocerebellar ataxia type 13; SCAR13; Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency; Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency (ORPHA:324262)
Gene: GRM1
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 (OMIM:614831)
Gene: GRM1
Phenotype: Inferior cerebellar vermis hypoplasia (HP:0007068)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 (OMIM:614831)
Gene: GRM1
Phenotype: Difficulty standing (HP:0003698)
Associated disease: Autosomal recessive spinocerebellar ataxia type 13; SCAR13; Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency; Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency (ORPHA:324262)
Gene: GRM1
Phenotype: Frequent falls (HP:0002359)
Associated disease: SPINOCEREBELLAR ATAXIA 44 (OMIM:617691)
Gene: GRM1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 (OMIM:614831)
Gene: GRM1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPINOCEREBELLAR ATAXIA 44 (OMIM:617691)
Gene: GRM1
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 (OMIM:614831)
Gene: GRM1
Phenotype: Abnormality of ocular abduction (HP:0011347)
Associated disease: Autosomal recessive spinocerebellar ataxia type 13; SCAR13; Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency; Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency (ORPHA:324262)
Gene: GRM1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 (OMIM:614831)
Gene: GRM1
Phenotype: Short stature (HP:0004322)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 (OMIM:614831)
Gene: GRM1
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Autosomal recessive spinocerebellar ataxia type 13; SCAR13; Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency; Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency (ORPHA:324262)
Gene: GRM1
Phenotype: Retrocerebellar cyst (HP:0006951)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 (OMIM:614831)
Gene: GRM1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SPINOCEREBELLAR ATAXIA 44 (OMIM:617691)
Gene: GRM1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 (OMIM:614831)
Gene: GRM1
Phenotype: Fatigue (HP:0012378)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 (OMIM:614831)
Gene: GRM1
Phenotype: Tinnitus (HP:0000360)
Associated disease: SPINOCEREBELLAR ATAXIA 44 (OMIM:617691)
Gene: GRM1
Phenotype: Gaze-evoked horizontal nystagmus (HP:0007979)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 (OMIM:614831)
Gene: GRM1
Phenotype: Gaze-evoked horizontal nystagmus (HP:0007979)
Associated disease: Autosomal recessive spinocerebellar ataxia type 13; SCAR13; Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency; Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency (ORPHA:324262)
Gene: GRM1
Phenotype: Strabismus (HP:0000486)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 (OMIM:614831)
Gene: GRM1
Phenotype: Ptosis (HP:0000508)
Associated disease: Autosomal recessive spinocerebellar ataxia type 13; SCAR13; Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency; Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency (ORPHA:324262)
Gene: GRM1
Phenotype: Ptosis (HP:0000508)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 (OMIM:614831)
Gene: GRM1
Phenotype: Hypometric saccades (HP:0000571)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 (OMIM:614831)
Gene: GRM1
Phenotype: Hypometric saccades (HP:0000571)
Associated disease: Autosomal recessive spinocerebellar ataxia type 13; SCAR13; Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency; Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency (ORPHA:324262)
Gene: GRM1
Phenotype: Esotropia (HP:0000565)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 (OMIM:614831)
Gene: GRM1
Phenotype: Esotropia (HP:0000565)
Associated disease: Autosomal recessive spinocerebellar ataxia type 13; SCAR13; Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency; Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency (ORPHA:324262)
Gene: GRM6
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GRM6
Phenotype: Hemeralopia (HP:0012047)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B (OMIM:257270)
Gene: GRM6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GRM6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B (OMIM:257270)
Gene: GRM6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GRM6
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GRM6
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GRM6
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GRM6
Phenotype: Congenital stationary night blindness (HP:0007642)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B (OMIM:257270)
Gene: GRM6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GRM6
Phenotype: Nystagmus (HP:0000639)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GRM6
Phenotype: Abnormal dark-adapted electroretinogram (HP:0030469)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GRM6
Phenotype: Reduced amplitude of dark-adapted bright flash electroretinogram a-wave (HP:0030483)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GRM6
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GRM6
Phenotype: Nyctalopia (HP:0000662)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B (OMIM:257270)
Gene: GRM6
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GRM6
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B (OMIM:257270)
Gene: GRM6
Phenotype: Congenital stationary night blindness with abnormal fundus (HP:0030639)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GRM6
Phenotype: Congenital stationary night blindness with normal fundus (HP:0030638)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GRM6
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GRM6
Phenotype: Childhood onset (HP:0011463)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B (OMIM:257270)
Gene: GRM6
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GRM6
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GRM6
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GRM6
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B (OMIM:257270)
Gene: GRM6
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GRM6
Phenotype: Retinal thinning (HP:0030329)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GRM6
Phenotype: Electronegative electroretinogram (HP:0007984)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)