TaoMedAI/RareMedData huggingface dataset:
Gene: ATN1
Phenotype: Nystagmus (HP:0000639)
Associated disease: DRPLA; Naito-Oyanagi disease; Dentatorubral pallidoluysian atrophy; Dentatorubropallidoluysian atrophy (ORPHA:101)
Gene: ATN1
Phenotype: Blepharospasm (HP:0000643)
Associated disease: DRPLA; Naito-Oyanagi disease; Dentatorubral pallidoluysian atrophy; Dentatorubropallidoluysian atrophy (ORPHA:101)
Gene: ATN1
Phenotype: Involuntary movements (HP:0004305)
Associated disease: DRPLA; Naito-Oyanagi disease; Dentatorubral pallidoluysian atrophy; Dentatorubropallidoluysian atrophy (ORPHA:101)
Gene: ATN1
Phenotype: Dementia (HP:0000726)
Associated disease: DRPLA; Naito-Oyanagi disease; Dentatorubral pallidoluysian atrophy; Dentatorubropallidoluysian atrophy (ORPHA:101)
Gene: ATN1
Phenotype: Dementia (HP:0000726)
Associated disease: DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (OMIM:125370)
Gene: ATN1
Phenotype: Young adult onset (HP:0011462)
Associated disease: DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (OMIM:125370)
Gene: ATN1
Phenotype: Inverted nipples (HP:0003186)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: DRPLA; Naito-Oyanagi disease; Dentatorubral pallidoluysian atrophy; Dentatorubropallidoluysian atrophy (ORPHA:101)
Gene: ATN1
Phenotype: Appendicular spasticity (HP:0034353)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Epicanthus (HP:0000286)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Low-set ears (HP:0000369)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Long philtrum (HP:0000343)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: High forehead (HP:0000348)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Overlapping toe (HP:0001845)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: DRPLA; Naito-Oyanagi disease; Dentatorubral pallidoluysian atrophy; Dentatorubropallidoluysian atrophy (ORPHA:101)
Gene: ATN1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: DSC2
Phenotype: Syncope (HP:0001279)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 (OMIM:610476)
Gene: DSC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 (OMIM:610476)
Gene: DSC2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 (OMIM:610476)
Gene: DSC2
Phenotype: Dyspnea (HP:0002094)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 (OMIM:610476)
Gene: DSC2
Phenotype: Middle age onset (HP:0003596)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 (OMIM:610476)
Gene: DSC2
Phenotype: Late onset (HP:0003584)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 (OMIM:610476)
Gene: DSC2
Phenotype: Woolly hair (HP:0002224)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 (OMIM:610476)
Gene: DSC2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 (OMIM:610476)
Gene: DSC2
Phenotype: Palpitations (HP:0001962)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 (OMIM:610476)
Gene: DSC2
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 (OMIM:610476)
Gene: DSC2
Phenotype: Young adult onset (HP:0011462)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 (OMIM:610476)
Gene: DSC2
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 (OMIM:610476)
Gene: DSC2
Phenotype: Right ventricular cardiomyopathy (HP:0011663)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 (OMIM:610476)
Gene: DSC2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 (OMIM:610476)
Gene: DSC3
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: HYPOTRICHOSIS AND RECURRENT SKIN VESICLES (OMIM:613102)
Gene: DSC3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOTRICHOSIS AND RECURRENT SKIN VESICLES (OMIM:613102)
Gene: DSC3
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: HYPOTRICHOSIS AND RECURRENT SKIN VESICLES (OMIM:613102)
Gene: DSC3
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPOTRICHOSIS AND RECURRENT SKIN VESICLES (OMIM:613102)
Gene: DSC3
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: HYPOTRICHOSIS AND RECURRENT SKIN VESICLES (OMIM:613102)
Gene: DSC3
Phenotype: Sparse body hair (HP:0002231)
Associated disease: HYPOTRICHOSIS AND RECURRENT SKIN VESICLES (OMIM:613102)
Gene: DSC3
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: HYPOTRICHOSIS AND RECURRENT SKIN VESICLES (OMIM:613102)
Gene: DSC3
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: HYPOTRICHOSIS AND RECURRENT SKIN VESICLES (OMIM:613102)
Gene: DSC3
Phenotype: Skin vesicle (HP:0200037)
Associated disease: HYPOTRICHOSIS AND RECURRENT SKIN VESICLES (OMIM:613102)
Gene: DSC3
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: HYPOTRICHOSIS AND RECURRENT SKIN VESICLES (OMIM:613102)
Gene: DSC3
Phenotype: Abnormal EKG (HP:0003115)
Associated disease: HYPOTRICHOSIS AND RECURRENT SKIN VESICLES (OMIM:613102)
Gene: DSC3
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: HYPOTRICHOSIS AND RECURRENT SKIN VESICLES (OMIM:613102)
Gene: DSC3
Phenotype: Sparse hair (HP:0008070)
Associated disease: HYPOTRICHOSIS AND RECURRENT SKIN VESICLES (OMIM:613102)
Gene: DSC3
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: HYPOTRICHOSIS AND RECURRENT SKIN VESICLES (OMIM:613102)
Gene: DSC3
Phenotype: Angular cheilitis (HP:0030318)
Associated disease: HYPOTRICHOSIS AND RECURRENT SKIN VESICLES (OMIM:613102)
Gene: DSC3
Phenotype: Leukonychia (HP:0001820)
Associated disease: HYPOTRICHOSIS AND RECURRENT SKIN VESICLES (OMIM:613102)
Gene: DSG1
Phenotype: Hypergranulosis (HP:0025114)
Associated disease: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
Gene: DSG1
Phenotype: Hypergranulosis (HP:0025114)
Associated disease: PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE (OMIM:148700)
Gene: DSG1
Phenotype: Psoriasiform dermatitis (HP:0003765)
Associated disease: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
Gene: DSG1
Phenotype: Eosinophilic infiltration of the esophagus (HP:0410151)
Associated disease: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
Gene: DSG1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
Gene: DSG1
Phenotype: Palmoplantar blistering (HP:0007446)
Associated disease: PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE (OMIM:148700)
Gene: DSG1
Phenotype: Streaks of hyperkeratosis along each finger onto the palm (HP:0007501)
Associated disease: PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE (OMIM:148700)
Gene: DSG1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
Gene: DSG1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE (OMIM:148700)
Gene: DSG1
Phenotype: Food allergy (HP:0500093)
Associated disease: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
Gene: DSG1
Phenotype: Malabsorption (HP:0002024)
Associated disease: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
Gene: DSG1
Phenotype: Congenital onset (HP:0003577)
Associated disease: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
Gene: DSG1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
Gene: DSG1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE (OMIM:148700)
Gene: DSG1
Phenotype: Acantholysis (HP:0100792)
Associated disease: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
Gene: DSG1
Phenotype: Erythroderma (HP:0001019)
Associated disease: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
Gene: DSG1
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE (OMIM:148700)
Gene: DSG1
Phenotype: Orthokeratotic hyperkeratosis (HP:0025080)
Associated disease: PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE (OMIM:148700)
Gene: DSG1
Phenotype: Yellow nails (HP:0011367)
Associated disease: PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE (OMIM:148700)
Gene: DSG1
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
Gene: DSG1
Phenotype: Hypernatremia (HP:0003228)
Associated disease: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
Gene: DSG1
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
Gene: DSG1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE (OMIM:148700)
Gene: DSG1
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE (OMIM:148700)
Gene: DSG1
Phenotype: Reduced circulating growth hormone concentration (HP:0034323)
Associated disease: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
Gene: DSG1
Phenotype: Multiple muscular ventricular septal defects (HP:0011625)
Associated disease: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
Gene: DSG1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE (OMIM:148700)
Gene: DSG1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Keratosis palmoplantaris striata et areata; Keratosis palmoplantaris striata; Striate palmoplantar keratoderma; Keratosis palmoplantaris varians of Wachters (ORPHA:50942)
Gene: DSG1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
Gene: DSG1
Phenotype: Orthokeratosis (HP:0040162)
Associated disease: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
Gene: DSG1
Phenotype: Sparse hair (HP:0008070)
Associated disease: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
Gene: DSG1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
Gene: DSG1
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Keratosis palmoplantaris striata et areata; Keratosis palmoplantaris striata; Striate palmoplantar keratoderma; Keratosis palmoplantaris varians of Wachters (ORPHA:50942)
Gene: DSG1
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Keratosis palmoplantaris striata et areata; Keratosis palmoplantaris striata; Striate palmoplantar keratoderma; Keratosis palmoplantaris varians of Wachters (ORPHA:50942)
Gene: DSG1
Phenotype: Microcephaly (HP:0000252)
Associated disease: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
Gene: DSG1
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
Gene: DSG1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
Gene: DSG1
Phenotype: Growth delay (HP:0001510)
Associated disease: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
Gene: DSG1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
Gene: DSG1
Phenotype: Onycholysis (HP:0001806)
Associated disease: PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE (OMIM:148700)
Gene: DSG2
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DSG2
Phenotype: Increased circulating troponin I concentration (HP:0410173)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 (OMIM:610193)
Gene: DSG2
Phenotype: Increased circulating creatine kinase MB isoform (HP:0032232)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 (OMIM:610193)
Gene: DSG2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARDIOMYOPATHY, DILATED, 1BB (OMIM:612877)
Gene: DSG2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 (OMIM:610193)
Gene: DSG2
Phenotype: Increased left ventricular end-diastolic volume (HP:0033755)
Associated disease: CARDIOMYOPATHY, DILATED, 1BB (OMIM:612877)
Gene: DSG2
Phenotype: Dyspnea (HP:0002094)
Associated disease: CARDIOMYOPATHY, DILATED, 1BB (OMIM:612877)
Gene: DSG2
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DSG2
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 (OMIM:610193)
Gene: DSG2
Phenotype: Left bundle branch block (HP:0011713)
Associated disease: CARDIOMYOPATHY, DILATED, 1BB (OMIM:612877)
Gene: DSG2
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DSG2
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 (OMIM:610193)
Gene: DSG2
Phenotype: Middle age onset (HP:0003596)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 (OMIM:610193)
Gene: DSG2
Phenotype: Late onset (HP:0003584)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 (OMIM:610193)
Gene: DSG2
Phenotype: Adult onset (HP:0003581)
Associated disease: CARDIOMYOPATHY, DILATED, 1BB (OMIM:612877)
Gene: DSG2
Phenotype: Woolly hair (HP:0002224)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 (OMIM:610193)
Gene: DSG2
Phenotype: Chest pain (HP:0100749)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 (OMIM:610193)
Gene: DSG2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 (OMIM:610193)
Gene: DSG2
Phenotype: Palpitations (HP:0001962)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 (OMIM:610193)
Gene: DSG2
Phenotype: Severely reduced left ventricular ejection fraction (HP:0012666)
Associated disease: CARDIOMYOPATHY, DILATED, 1BB (OMIM:612877)
Gene: DSG2
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 (OMIM:610193)
Gene: DSG2
Phenotype: Young adult onset (HP:0011462)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 (OMIM:610193)
Gene: DSG2
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DSG2
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DSG2
Phenotype: Epsilon wave (HP:0034304)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 (OMIM:610193)
Gene: DSG2
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DSG2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DSG2
Phenotype: Right ventricular cardiomyopathy (HP:0011663)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 (OMIM:610193)
Gene: DSG2
Phenotype: Prolonged PR interval (HP:0012248)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 (OMIM:610193)
Gene: DSG2
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DSG2
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DSG2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 (OMIM:610193)
Gene: DSG2
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DSG2
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 1BB (OMIM:612877)
Gene: DSG2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DSG2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, DILATED, 1BB (OMIM:612877)
Gene: DSG2
Phenotype: Premature ventricular contraction (HP:0006682)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 (OMIM:610193)
Gene: DSG2
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DSG2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DSG3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA (OMIM:619226)
Gene: DSG3
Phenotype: Oral mucosal blisters (HP:0200097)
Associated disease: BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA (OMIM:619226)
Gene: DSG3
Phenotype: Erosion of oral mucosa (HP:0031446)
Associated disease: BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA (OMIM:619226)
Gene: DSP
Phenotype: Syndactyly (HP:0001159)
Associated disease: EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (OMIM:609638)
Gene: DSP
Phenotype: Honeycomb lung (HP:0025175)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DSP
Phenotype: Ground-glass opacification (HP:0025179)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DSP
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DSP
Phenotype: Tapered distal phalanges of finger (HP:0009884)
Associated disease: EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (OMIM:609638)
Gene: DSP
Phenotype: Syncope (HP:0001279)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS (OMIM:615821)
Gene: DSP
Phenotype: 2-3 finger cutaneous syndactyly (HP:0001233)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: DSP
Phenotype: Alopecia totalis (HP:0007418)
Associated disease: EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (OMIM:609638)
Gene: DSP
Phenotype: 3-4 finger osseus syndactyly (HP:0006097)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: DSP
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DSP
Phenotype: Neonatal death (HP:0003811)
Associated disease: EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (OMIM:609638)
Gene: DSP
Phenotype: Reticular pattern on pulmonary HRCT (HP:0025390)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)