TaoMedAI/RareMedData huggingface dataset:
Gene: IMPDH2
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: IMPDH2
Phenotype: Postural tremor (HP:0002174)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: IMPDH2
Phenotype: Transient hyperphenylalaninemia (HP:0008297)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: IMPDH2
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: IMPDH2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: IMPDH2
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: IMPDH2
Phenotype: Focal dystonia (HP:0004373)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: IMPDH2
Phenotype: Anxiety (HP:0000739)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: IMPDH2
Phenotype: Depression (HP:0000716)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: IMPDH2
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: IMPDH2
Phenotype: Hypertension (HP:0000822)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: IMPDH2
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: IMPDH2
Phenotype: Progressive flexion contractures (HP:0005876)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: IMPDH2
Phenotype: Abnormal substantia nigra morphology (HP:0045007)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: IMPDH2
Phenotype: Fatigue (HP:0012378)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: IMPDH2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: IMPDH2
Phenotype: Torticollis (HP:0000473)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: IMPDH2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: IMPDH2
Phenotype: Pes cavus (HP:0001761)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: IMPG1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IMPG1
Phenotype: Choroideremia (HP:0001139)
Associated disease: AVMD; Adult-onset foveomacular dystrophy; Adult-onset vitelliform macular dystrophy; AOFMD; Pseudo-Best disease; Gass disease; Adult-onset foveomacular vitelliform dystrophy; Pseudo-vitelliform macular dystrophy; Adult-onset foveomacular dystrophy with choroidal neovascularization (ORPHA:99000)
Gene: IMPG1
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPG1
Phenotype: Visual field defect (HP:0001123)
Associated disease: AVMD; Adult-onset foveomacular dystrophy; Adult-onset vitelliform macular dystrophy; AOFMD; Pseudo-Best disease; Gass disease; Adult-onset foveomacular vitelliform dystrophy; Pseudo-vitelliform macular dystrophy; Adult-onset foveomacular dystrophy with choroidal neovascularization (ORPHA:99000)
Gene: IMPG1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IMPG1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IMPG1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MACULAR DYSTROPHY, VITELLIFORM, 4 (OMIM:616151)
Gene: IMPG1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MACULAR DYSTROPHY, CONCENTRIC ANNULAR (OMIM:153870)
Gene: IMPG1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IMPG1
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPG1
Phenotype: Vitelliform-like macular lesions (HP:0007677)
Associated disease: AVMD; Adult-onset foveomacular dystrophy; Adult-onset vitelliform macular dystrophy; AOFMD; Pseudo-Best disease; Gass disease; Adult-onset foveomacular vitelliform dystrophy; Pseudo-vitelliform macular dystrophy; Adult-onset foveomacular dystrophy with choroidal neovascularization (ORPHA:99000)
Gene: IMPG1
Phenotype: Vitelliform-like macular lesions (HP:0007677)
Associated disease: MACULAR DYSTROPHY, VITELLIFORM, 4 (OMIM:616151)
Gene: IMPG1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IMPG1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPG1
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: MACULAR DYSTROPHY, CONCENTRIC ANNULAR (OMIM:153870)
Gene: IMPG1
Phenotype: Decreased Arden ratio of electrooculogram (HP:0008179)
Associated disease: MACULAR DYSTROPHY, VITELLIFORM, 4 (OMIM:616151)
Gene: IMPG1
Phenotype: Adult onset (HP:0003581)
Associated disease: MACULAR DYSTROPHY, VITELLIFORM, 4 (OMIM:616151)
Gene: IMPG1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IMPG1
Phenotype: Moderately reduced visual acuity (HP:0030515)
Associated disease: MACULAR DYSTROPHY, VITELLIFORM, 4 (OMIM:616151)
Gene: IMPG1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPG1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPG1
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPG1
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPG1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPG1
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPG1
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPG1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPG1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IMPG1
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPG1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IMPG1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IMPG1
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPG1
Phenotype: Drusen (HP:0011510)
Associated disease: MACULAR DYSTROPHY, VITELLIFORM, 4 (OMIM:616151)
Gene: IMPG1
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPG1
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPG1
Phenotype: Foveal hyperpigmentation (HP:0008001)
Associated disease: MACULAR DYSTROPHY, CONCENTRIC ANNULAR (OMIM:153870)
Gene: IMPG1
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPG1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPG1
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPG1
Phenotype: Macular dystrophy (HP:0007754)
Associated disease: MACULAR DYSTROPHY, CONCENTRIC ANNULAR (OMIM:153870)
Gene: IMPG1
Phenotype: Macular dystrophy (HP:0007754)
Associated disease: MACULAR DYSTROPHY, VITELLIFORM, 4 (OMIM:616151)
Gene: IMPG1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPG1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IMPG1
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: AVMD; Adult-onset foveomacular dystrophy; Adult-onset vitelliform macular dystrophy; AOFMD; Pseudo-Best disease; Gass disease; Adult-onset foveomacular vitelliform dystrophy; Pseudo-vitelliform macular dystrophy; Adult-onset foveomacular dystrophy with choroidal neovascularization (ORPHA:99000)
Gene: IMPG1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPG1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IMPG1
Phenotype: Retinal nonattachment (HP:0007899)
Associated disease: AVMD; Adult-onset foveomacular dystrophy; Adult-onset vitelliform macular dystrophy; AOFMD; Pseudo-Best disease; Gass disease; Adult-onset foveomacular vitelliform dystrophy; Pseudo-vitelliform macular dystrophy; Adult-onset foveomacular dystrophy with choroidal neovascularization (ORPHA:99000)
Gene: IMPG1
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPG1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPG1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPG1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: AVMD; Adult-onset foveomacular dystrophy; Adult-onset vitelliform macular dystrophy; AOFMD; Pseudo-Best disease; Gass disease; Adult-onset foveomacular vitelliform dystrophy; Pseudo-vitelliform macular dystrophy; Adult-onset foveomacular dystrophy with choroidal neovascularization (ORPHA:99000)
Gene: IMPG1
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPG1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IMPG1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPG1
Phenotype: Visual impairment (HP:0000505)
Associated disease: AVMD; Adult-onset foveomacular dystrophy; Adult-onset vitelliform macular dystrophy; AOFMD; Pseudo-Best disease; Gass disease; Adult-onset foveomacular vitelliform dystrophy; Pseudo-vitelliform macular dystrophy; Adult-onset foveomacular dystrophy with choroidal neovascularization (ORPHA:99000)
Gene: IMPG1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPG1
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: AVMD; Adult-onset foveomacular dystrophy; Adult-onset vitelliform macular dystrophy; AOFMD; Pseudo-Best disease; Gass disease; Adult-onset foveomacular vitelliform dystrophy; Pseudo-vitelliform macular dystrophy; Adult-onset foveomacular dystrophy with choroidal neovascularization (ORPHA:99000)
Gene: IMPG1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPG1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IMPG1
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPG1
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPG1
Phenotype: Color vision defect (HP:0000551)
Associated disease: AVMD; Adult-onset foveomacular dystrophy; Adult-onset vitelliform macular dystrophy; AOFMD; Pseudo-Best disease; Gass disease; Adult-onset foveomacular vitelliform dystrophy; Pseudo-vitelliform macular dystrophy; Adult-onset foveomacular dystrophy with choroidal neovascularization (ORPHA:99000)
Gene: IMPG1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPG1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPG1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IMPG1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ING1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SQUAMOUS CELL CARCINOMA, HEAD AND NECK (OMIM:275355)
Gene: ING1
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: SQUAMOUS CELL CARCINOMA, HEAD AND NECK (OMIM:275355)
Gene: INS
Phenotype: Abnormality of the upper urinary tract (HP:0010935)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Motor delay (HP:0001270)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Hypotonia (HP:0001252)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Ataxia (HP:0001251)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Pancreatic hypoplasia (HP:0002594)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: INS
Phenotype: Pancreatic hypoplasia (HP:0002594)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Coma (HP:0001259)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: INS
Phenotype: Hepatocellular adenoma (HP:0012028)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: INS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 4 (OMIM:618858)
Gene: INS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TYPE 1 DIABETES MELLITUS 2 (OMIM:125852)
Gene: INS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10 (OMIM:613370)
Gene: INS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERPROINSULINEMIA (OMIM:616214)
Gene: INS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 4 (OMIM:618858)
Gene: INS
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Reduced pancreatic beta cells (HP:0006274)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: INS
Phenotype: Renal tubular dysfunction (HP:0000124)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Nephropathy (HP:0000112)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: INS
Phenotype: Renal cyst (HP:0000107)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: INS
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Apraxia (HP:0002186)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Transient neonatal diabetes mellitus (HP:0008255)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: INS
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: TYPE 1 DIABETES MELLITUS 2 (OMIM:125852)
Gene: INS
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 4 (OMIM:618858)
Gene: INS
Phenotype: Abnormal oral glucose tolerance (HP:0004924)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: INS
Phenotype: Maturity-onset diabetes of the young (HP:0004904)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10 (OMIM:613370)
Gene: INS
Phenotype: Dehydration (HP:0001944)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Diabetic ketoacidosis (HP:0001953)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: INS
Phenotype: Diabetic ketoacidosis (HP:0001953)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 4 (OMIM:618858)
Gene: INS
Phenotype: Diabetic ketoacidosis (HP:0001953)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10 (OMIM:613370)
Gene: INS
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: INS
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: INS
Phenotype: Glycosuria (HP:0003076)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: INS
Phenotype: Glycosuria (HP:0003076)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: INS
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10 (OMIM:613370)
Gene: INS
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: HYPERPROINSULINEMIA (OMIM:616214)
Gene: INS
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 4 (OMIM:618858)
Gene: INS
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Lower-limb joint contracture (HP:0005750)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Reduced C-peptide level (HP:0030795)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 4 (OMIM:618858)