TaoMedAI/RareMedData huggingface dataset:
Gene: CLIP2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: CLIP2
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: CLIP2
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: CLIP2
Phenotype: Abnormal carotid artery morphology (HP:0005344)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: CLIP2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: CLIP2
Phenotype: Macrotia (HP:0000400)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: CLIP2
Phenotype: Strabismus (HP:0000486)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: CLIP2
Phenotype: Megalocornea (HP:0000485)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: CLIP2
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: CLIP2
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: CLIP2
Phenotype: Pes planus (HP:0001763)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: CLIP2
Phenotype: Protruding ear (HP:0000411)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: CLIP2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: CLIP2
Phenotype: Cataract (HP:0000518)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: CLIP2
Phenotype: Hallux valgus (HP:0001822)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: CLIP2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: CLIP2
Phenotype: Glaucoma (HP:0000501)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: CLIP2
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: CLIP2
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: CLIP2
Phenotype: Myopia (HP:0000545)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: WFS1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WFS1
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT (OMIM:614296)
Gene: WFS1
Phenotype: Abnormality of the upper urinary tract (HP:0010935)
Associated disease: Wolfram-like syndrome (ORPHA:411590)
Gene: WFS1
Phenotype: Low-frequency sensorineural hearing impairment (HP:0008573)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 6 (OMIM:600965)
Gene: WFS1
Phenotype: Stroke-like episode (HP:0002401)
Associated disease: WOLFRAM SYNDROME 1 (OMIM:222300)
Gene: WFS1
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: WFS1
Phenotype: Seizure (HP:0001250)
Associated disease: WOLFRAM SYNDROME 1 (OMIM:222300)
Gene: WFS1
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: WFS1
Phenotype: Ataxia (HP:0001251)
Associated disease: WOLFRAM SYNDROME 1 (OMIM:222300)
Gene: WFS1
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: Wolfram-like syndrome (ORPHA:411590)
Gene: WFS1
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: WFS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: WOLFRAM SYNDROME 1 (OMIM:222300)
Gene: WFS1
Phenotype: Dysarthria (HP:0001260)
Associated disease: WOLFRAM SYNDROME 1 (OMIM:222300)
Gene: WFS1
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: WFS1
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: WFS1
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: WFS1
Phenotype: Hydroureter (HP:0000072)
Associated disease: WOLFRAM SYNDROME 1 (OMIM:222300)
Gene: WFS1
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: WFS1
Phenotype: Testicular atrophy (HP:0000029)
Associated disease: WOLFRAM SYNDROME 1 (OMIM:222300)
Gene: WFS1
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: WFS1
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: Wolfram-like syndrome (ORPHA:411590)
Gene: WFS1
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: WFS1
Phenotype: Limited mobility of proximal interphalangeal joint (HP:0006217)
Associated disease: WOLFRAM SYNDROME 1 (OMIM:222300)
Gene: WFS1
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: Wolfram-like syndrome (ORPHA:411590)
Gene: WFS1
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: WOLFRAM SYNDROME 1 (OMIM:222300)
Gene: WFS1
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: WFS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WFS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: WOLFRAM SYNDROME 1 (OMIM:222300)
Gene: WFS1
Phenotype: Tremor (HP:0001337)
Associated disease: WOLFRAM SYNDROME 1 (OMIM:222300)
Gene: WFS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: WFS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 6 (OMIM:600965)
Gene: WFS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WFS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CATARACT 41 (OMIM:116400)
Gene: WFS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT (OMIM:614296)
Gene: WFS1
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: WFS1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WFS1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT (OMIM:614296)
Gene: WFS1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WFS1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: WOLFRAM SYNDROME 1 (OMIM:222300)
Gene: WFS1
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: WFS1
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: WFS1
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: WFS1
Phenotype: Dysphagia (HP:0002015)
Associated disease: WOLFRAM SYNDROME 1 (OMIM:222300)
Gene: WFS1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: WFS1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT (OMIM:614296)
Gene: WFS1
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: WFS1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Wolfram-like syndrome (ORPHA:411590)
Gene: WFS1
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: Wolfram-like syndrome (ORPHA:411590)
Gene: WFS1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: WOLFRAM SYNDROME 1 (OMIM:222300)
Gene: WFS1
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: WFS1
Phenotype: Impaired glucose tolerance (HP:0040270)
Associated disease: WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT (OMIM:614296)
Gene: WFS1
Phenotype: Primary gonadal insufficiency (HP:0008193)
Associated disease: Wolfram-like syndrome (ORPHA:411590)
Gene: WFS1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Wolfram-like syndrome (ORPHA:411590)
Gene: WFS1
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: WFS1
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: WFS1
Phenotype: Late onset (HP:0003584)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: WFS1
Phenotype: Schizophrenia (HP:0100753)
Associated disease: WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT (OMIM:614296)
Gene: WFS1
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: WFS1
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: WFS1
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: Wolfram-like syndrome (ORPHA:411590)
Gene: WFS1
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: WFS1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WFS1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT (OMIM:614296)
Gene: WFS1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: WOLFRAM SYNDROME 1 (OMIM:222300)
Gene: WFS1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 6 (OMIM:600965)
Gene: WFS1
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: WFS1
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: WFS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: WOLFRAM SYNDROME 1 (OMIM:222300)
Gene: WFS1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT (OMIM:614296)
Gene: WFS1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: WOLFRAM SYNDROME 1 (OMIM:222300)
Gene: WFS1
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: WFS1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Wolfram-like syndrome (ORPHA:411590)
Gene: WFS1
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: WFS1
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: Wolfram-like syndrome (ORPHA:411590)
Gene: WFS1
Phenotype: Sideroblastic anemia (HP:0001924)
Associated disease: WOLFRAM SYNDROME 1 (OMIM:222300)
Gene: WFS1
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: WFS1
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: WFS1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WFS1
Phenotype: Blind-spot enlargement (HP:0030644)
Associated disease: WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT (OMIM:614296)
Gene: WFS1
Phenotype: Nuclear cataract (HP:0100018)
Associated disease: CATARACT 41 (OMIM:116400)
Gene: WFS1
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)
Gene: WFS1
Phenotype: Hallucinations (HP:0000738)
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: WFS1
Phenotype: Hallucinations (HP:0000738)
Associated disease: WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT (OMIM:614296)
Gene: WFS1
Phenotype: Anxiety (HP:0000739)
Associated disease: WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT (OMIM:614296)
Gene: WFS1
Phenotype: Anxiety (HP:0000739)
Associated disease: Wolfram-like syndrome (ORPHA:411590)
Gene: WFS1
Phenotype: Depression (HP:0000716)
Associated disease: WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT (OMIM:614296)
Gene: WFS1
Phenotype: Depression (HP:0000716)
Associated disease: Wolfram-like syndrome (ORPHA:411590)
Gene: WFS1
Phenotype: Autism (HP:0000717)
Associated disease: WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT (OMIM:614296)
Gene: WFS1
Phenotype: Dementia (HP:0000726)
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: WFS1
Phenotype: Dementia (HP:0000726)
Associated disease: Wolfram-like syndrome (ORPHA:411590)
Gene: WFS1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Wolfram-like syndrome (ORPHA:411590)
Gene: WFS1
Phenotype: Psychosis (HP:0000709)
Associated disease: WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT (OMIM:614296)
Gene: WFS1
Phenotype: Psychosis (HP:0000709)
Associated disease: Wolfram-like syndrome (ORPHA:411590)
Gene: WFS1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: WOLFRAM SYNDROME 1 (OMIM:222300)
Gene: WFS1
Phenotype: Atypical behavior (HP:0000708)
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: WFS1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WFS1
Phenotype: Childhood onset (HP:0011463)
Associated disease: WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT (OMIM:614296)
Gene: WFS1
Phenotype: Childhood onset (HP:0011463)
Associated disease: WOLFRAM SYNDROME 1 (OMIM:222300)
Gene: WFS1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)