TaoMedAI/RareMedData huggingface dataset:
Gene: EIF2AK4
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: Pulmonary capillary hemangiomatosis (ORPHA:199241)
Gene: EIF2AK4
Phenotype: Right ventricular failure (HP:0001708)
Associated disease: Pulmonary capillary hemangiomatosis (ORPHA:199241)
Gene: EIF2AK4
Phenotype: Chronic fatigue (HP:0012432)
Associated disease: PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE (OMIM:234810)
Gene: EIF2AK4
Phenotype: Hypoxemia (HP:0012418)
Associated disease: Pulmonary capillary hemangiomatosis (ORPHA:199241)
Gene: GPR179
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GPR179
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GPR179
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E (OMIM:614565)
Gene: GPR179
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GPR179
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GPR179
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GPR179
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GPR179
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E (OMIM:614565)
Gene: GPR179
Phenotype: Congenital stationary night blindness (HP:0007642)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E (OMIM:614565)
Gene: GPR179
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GPR179
Phenotype: Nystagmus (HP:0000639)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E (OMIM:614565)
Gene: GPR179
Phenotype: Nystagmus (HP:0000639)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GPR179
Phenotype: Abnormal dark-adapted electroretinogram (HP:0030469)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GPR179
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: GPR179
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GPR179
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GPR179
Phenotype: Congenital stationary night blindness with abnormal fundus (HP:0030639)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GPR179
Phenotype: Congenital stationary night blindness with normal fundus (HP:0030638)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GPR179
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GPR179
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GPR179
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GPR179
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GPR179
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GPR179
Phenotype: High myopia (HP:0011003)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E (OMIM:614565)
Gene: GPR179
Phenotype: Retinal thinning (HP:0030329)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GPR179
Phenotype: Electronegative electroretinogram (HP:0007984)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GPR179
Phenotype: Strabismus (HP:0000486)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E (OMIM:614565)
Gene: GPR179
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GPR179
Phenotype: Compensatory head posture (HP:0031705)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GPR179
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GPR179
Phenotype: Visual impairment (HP:0000505)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E (OMIM:614565)
Gene: GPR179
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GPR179
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GPR179
Phenotype: Color vision defect (HP:0000551)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GPR179
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GPR179
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GPR179
Phenotype: Myopia (HP:0000545)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: LMOD2
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LMOD2
Phenotype: Neonatal death (HP:0003811)
Associated disease: CARDIOMYOPATHY, DILATED, 2G (OMIM:619897)
Gene: LMOD2
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: CARDIOMYOPATHY, DILATED, 2G (OMIM:619897)
Gene: LMOD2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARDIOMYOPATHY, DILATED, 2G (OMIM:619897)
Gene: LMOD2
Phenotype: Left atrial enlargement (HP:0031295)
Associated disease: CARDIOMYOPATHY, DILATED, 2G (OMIM:619897)
Gene: LMOD2
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LMOD2
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: CARDIOMYOPATHY, DILATED, 2G (OMIM:619897)
Gene: LMOD2
Phenotype: Multifocal atrial tachycardia (HP:0011701)
Associated disease: CARDIOMYOPATHY, DILATED, 2G (OMIM:619897)
Gene: LMOD2
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LMOD2
Phenotype: Paroxysmal ventricular tachycardia (HP:0004751)
Associated disease: CARDIOMYOPATHY, DILATED, 2G (OMIM:619897)
Gene: LMOD2
Phenotype: Congenital onset (HP:0003577)
Associated disease: CARDIOMYOPATHY, DILATED, 2G (OMIM:619897)
Gene: LMOD2
Phenotype: Severely reduced left ventricular ejection fraction (HP:0012666)
Associated disease: CARDIOMYOPATHY, DILATED, 2G (OMIM:619897)
Gene: LMOD2
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LMOD2
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LMOD2
Phenotype: Increased Z-disc width (HP:0033008)
Associated disease: CARDIOMYOPATHY, DILATED, 2G (OMIM:619897)
Gene: LMOD2
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LMOD2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LMOD2
Phenotype: Myofiber disarray (HP:0031318)
Associated disease: CARDIOMYOPATHY, DILATED, 2G (OMIM:619897)
Gene: LMOD2
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LMOD2
Phenotype: Myocardial sarcomeric disarray (HP:0031333)
Associated disease: CARDIOMYOPATHY, DILATED, 2G (OMIM:619897)
Gene: LMOD2
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LMOD2
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: CARDIOMYOPATHY, DILATED, 2G (OMIM:619897)
Gene: LMOD2
Phenotype: Tachycardia (HP:0001649)
Associated disease: CARDIOMYOPATHY, DILATED, 2G (OMIM:619897)
Gene: LMOD2
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LMOD2
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 2G (OMIM:619897)
Gene: LMOD2
Phenotype: Cardiogenic shock (HP:0030149)
Associated disease: CARDIOMYOPATHY, DILATED, 2G (OMIM:619897)
Gene: LMOD2
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: CARDIOMYOPATHY, DILATED, 2G (OMIM:619897)
Gene: LMOD2
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: CARDIOMYOPATHY, DILATED, 2G (OMIM:619897)
Gene: LMOD2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LMOD2
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LMOD2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LMOD2
Phenotype: Monomorphic ventricular tachycardia (HP:0031676)
Associated disease: CARDIOMYOPATHY, DILATED, 2G (OMIM:619897)
Gene: PRY2
Phenotype: Azoospermia (HP:0000027)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: PRY2
Phenotype: Y-linked inheritance (HP:0001450)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: PRY2
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: PRY2
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: COA5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 9 (OMIM:616500)
Gene: COA5
Phenotype: Congenital onset (HP:0003577)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 9 (OMIM:616500)
Gene: COA5
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 9 (OMIM:616500)
Gene: COA5
Phenotype: Cardiomyocyte mitochondrial proliferation (HP:0031320)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 9 (OMIM:616500)
Gene: COA5
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 9 (OMIM:616500)
Gene: CISD2
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: WOLFRAM SYNDROME 2 (OMIM:604928)
Gene: CISD2
Phenotype: Seizure (HP:0001250)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Ataxia (HP:0001251)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Dysarthria (HP:0001260)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Gastric ulcer (HP:0002592)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Joint stiffness (HP:0001387)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: WOLFRAM SYNDROME 2 (OMIM:604928)
Gene: CISD2
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: WOLFRAM SYNDROME 2 (OMIM:604928)
Gene: CISD2
Phenotype: Hypogonadism (HP:0000135)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Nephropathy (HP:0000112)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Malabsorption (HP:0002024)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Constipation (HP:0002019)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Dysuria (HP:0100518)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Impaired collagen-induced platelet aggregation (HP:0008320)
Associated disease: WOLFRAM SYNDROME 2 (OMIM:604928)
Gene: CISD2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Developmental regression (HP:0002376)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: WOLFRAM SYNDROME 2 (OMIM:604928)
Gene: CISD2
Phenotype: Nystagmus (HP:0000639)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: WOLFRAM SYNDROME 2 (OMIM:604928)
Gene: CISD2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Polydipsia (HP:0001959)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Anemia (HP:0001903)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: WOLFRAM SYNDROME 2 (OMIM:604928)
Gene: CISD2
Phenotype: Peptic ulcer (HP:0004398)
Associated disease: WOLFRAM SYNDROME 2 (OMIM:604928)
Gene: CISD2
Phenotype: Abnormal mesentery morphology (HP:0100016)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)