TaoMedAI/RareMedData huggingface dataset:
Gene: DSP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA (OMIM:605676)
Gene: DSP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (OMIM:609638)
Gene: DSP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KERATOSIS PALMOPLANTARIS STRIATA II (OMIM:612908)
Gene: DSP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS (OMIM:615821)
Gene: DSP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 (OMIM:607450)
Gene: DSP
Phenotype: Abnormal dermoepidermal hemidesmosome morphology (HP:0032449)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: DSP
Phenotype: Palmoplantar erythema (HP:0025493)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA (OMIM:605676)
Gene: DSP
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: KERATOSIS PALMOPLANTARIS STRIATA II (OMIM:612908)
Gene: DSP
Phenotype: Cleft palate (HP:0000175)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: DSP
Phenotype: Hypovolemic shock (HP:0031274)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: DSP
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DSP
Phenotype: Pulmonic regurgitation (HP:0010444)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DSP
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DSP
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DSP
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA (OMIM:605676)
Gene: DSP
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS (OMIM:615821)
Gene: DSP
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 (OMIM:607450)
Gene: DSP
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DSP
Phenotype: Congenital onset (HP:0003577)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA (OMIM:605676)
Gene: DSP
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: DSP
Phenotype: Woolly hair (HP:0002224)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA (OMIM:605676)
Gene: DSP
Phenotype: Woolly hair (HP:0002224)
Associated disease: Keratoderma with woolly hair type II; Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome; Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome; Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome; KWWH type II; Carvajal syndrome; Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome (ORPHA:65282)
Gene: DSP
Phenotype: Woolly hair (HP:0002224)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS (OMIM:615821)
Gene: DSP
Phenotype: Woolly hair (HP:0002224)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 (OMIM:607450)
Gene: DSP
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DSP
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DSP
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS (OMIM:615821)
Gene: DSP
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA (OMIM:605676)
Gene: DSP
Phenotype: 4-5 finger cutaneous syndactyly (HP:0010705)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: DSP
Phenotype: Acantholysis (HP:0100792)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA (OMIM:605676)
Gene: DSP
Phenotype: Acantholysis (HP:0100792)
Associated disease: EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (OMIM:609638)
Gene: DSP
Phenotype: Acantholysis (HP:0100792)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: DSP
Phenotype: Alopecia universalis (HP:0002289)
Associated disease: EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (OMIM:609638)
Gene: DSP
Phenotype: Absent hair (HP:0002298)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: DSP
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DSP
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA (OMIM:605676)
Gene: DSP
Phenotype: Orthodeoxia (HP:0033367)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DSP
Phenotype: Aplasia cutis congenita (HP:0001057)
Associated disease: EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (OMIM:609638)
Gene: DSP
Phenotype: Acrocyanosis (HP:0001063)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DSP
Phenotype: Parakeratosis (HP:0001036)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS (OMIM:615821)
Gene: DSP
Phenotype: Fragile skin (HP:0001030)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: DSP
Phenotype: Fragile skin (HP:0001030)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA (OMIM:605676)
Gene: DSP
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: KERATOSIS PALMOPLANTARIS STRIATA II (OMIM:612908)
Gene: DSP
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA (OMIM:605676)
Gene: DSP
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS (OMIM:615821)
Gene: DSP
Phenotype: Death in early adulthood (HP:0100613)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA (OMIM:605676)
Gene: DSP
Phenotype: Skin erosion (HP:0200041)
Associated disease: EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (OMIM:609638)
Gene: DSP
Phenotype: Erythema (HP:0010783)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS (OMIM:615821)
Gene: DSP
Phenotype: Juvenile onset (HP:0003621)
Associated disease: KERATOSIS PALMOPLANTARIS STRIATA II (OMIM:612908)
Gene: DSP
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: DSP
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (OMIM:609638)
Gene: DSP
Phenotype: Congenital alopecia totalis (HP:0005597)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: DSP
Phenotype: Patchy palmoplantar hyperkeratosis (HP:0005588)
Associated disease: Keratoderma with woolly hair type II; Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome; Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome; Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome; KWWH type II; Carvajal syndrome; Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome (ORPHA:65282)
Gene: DSP
Phenotype: Natal tooth (HP:0000695)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: DSP
Phenotype: Natal tooth (HP:0000695)
Associated disease: EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (OMIM:609638)
Gene: DSP
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA (OMIM:605676)
Gene: DSP
Phenotype: Usual interstitial pneumonia (HP:0031950)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DSP
Phenotype: Cough (HP:0012735)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DSP
Phenotype: Childhood onset (HP:0011463)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS (OMIM:615821)
Gene: DSP
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DSP
Phenotype: Death in adolescence (HP:0011421)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA (OMIM:605676)
Gene: DSP
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DSP
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: DSP
Phenotype: Decreased DLCO (HP:0045051)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DSP
Phenotype: Gingival recession (HP:0030816)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS (OMIM:615821)
Gene: DSP
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA (OMIM:605676)
Gene: DSP
Phenotype: Crackles (HP:0030830)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DSP
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA (OMIM:605676)
Gene: DSP
Phenotype: Pruritus (HP:0000989)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS (OMIM:615821)
Gene: DSP
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: DSP
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS (OMIM:615821)
Gene: DSP
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: KERATOSIS PALMOPLANTARIS STRIATA II (OMIM:612908)
Gene: DSP
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA (OMIM:605676)
Gene: DSP
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DSP
Phenotype: Edema (HP:0000969)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA (OMIM:605676)
Gene: DSP
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS (OMIM:615821)
Gene: DSP
Phenotype: Widely spaced toes (HP:0008094)
Associated disease: EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (OMIM:609638)
Gene: DSP
Phenotype: Ichthyosis (HP:0008064)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS (OMIM:615821)
Gene: DSP
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA (OMIM:605676)
Gene: DSP
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (OMIM:609638)
Gene: DSP
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DSP
Phenotype: Right ventricular cardiomyopathy (HP:0011663)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 (OMIM:607450)
Gene: DSP
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: KERATOSIS PALMOPLANTARIS STRIATA II (OMIM:612908)
Gene: DSP
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: DSP
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: KERATOSIS PALMOPLANTARIS STRIATA II (OMIM:612908)
Gene: DSP
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: DSP
Phenotype: Alopecia (HP:0001596)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA (OMIM:605676)
Gene: DSP
Phenotype: Cardiomyocyte hypertrophy (HP:0031319)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA (OMIM:605676)
Gene: DSP
Phenotype: Palmoplantar scaling skin (HP:0025524)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA (OMIM:605676)
Gene: DSP
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: DSP
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DSP
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DSP
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: DSP
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA (OMIM:605676)
Gene: DSP
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: DSP
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DSP
Phenotype: Fatigue (HP:0012378)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DSP
Phenotype: Abnormal helix morphology (HP:0011039)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: DSP
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: DSP
Phenotype: Abnormal dermoepidermal junction morphology (HP:0031538)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: DSP
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DSP
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 (OMIM:607450)
Gene: DSP
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DSP
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS (OMIM:615821)
Gene: DSP
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Keratoderma with woolly hair type II; Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome; Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome; Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome; KWWH type II; Carvajal syndrome; Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome (ORPHA:65282)
Gene: DSP
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA (OMIM:605676)
Gene: DSP
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 (OMIM:607450)
Gene: DSP
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA (OMIM:605676)
Gene: DSP
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: DSP
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DSP
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Keratoderma with woolly hair type II; Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome; Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome; Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome; KWWH type II; Carvajal syndrome; Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome (ORPHA:65282)
Gene: DSP
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 (OMIM:607450)
Gene: DSP
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA (OMIM:605676)
Gene: DSP
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: DSP
Phenotype: Subpleural honeycombing (HP:0031631)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DSP
Phenotype: Mitten deformity (HP:0004057)
Associated disease: EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (OMIM:609638)
Gene: DSP
Phenotype: Premature ventricular contraction (HP:0006682)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 (OMIM:607450)
Gene: DSP
Phenotype: Impaired myocardial contractility (HP:0006670)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: DSP
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DSP
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DSP
Phenotype: Anonychia (HP:0001798)
Associated disease: EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (OMIM:609638)
Gene: DSP
Phenotype: Early young adult onset (HP:0025708)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 (OMIM:607450)
Gene: DSP
Phenotype: Sandal gap (HP:0001852)
Associated disease: EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (OMIM:609638)
Gene: DSP
Phenotype: Leukonychia (HP:0001820)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS (OMIM:615821)
Gene: DSP
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: DSP
Phenotype: Fragile nails (HP:0001808)
Associated disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS (OMIM:615821)
Gene: DSP
Phenotype: Absent toenail (HP:0001802)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: DSP
Phenotype: Absent fingernail (HP:0001817)
Associated disease: EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (OMIM:609638)
Gene: DSP
Phenotype: Absent fingernail (HP:0001817)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: DSP
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: DSPP
Phenotype: Pulp calcification (HP:0003771)
Associated disease: DENTIN DYSPLASIA, TYPE II (OMIM:125420)
Gene: DSPP
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1 (OMIM:605594)
Gene: DSPP
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Decreased palmar creases (HP:0006184)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1 (OMIM:605594)
Gene: DSPP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III (OMIM:125500)
Gene: DSPP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DENTIN DYSPLASIA, TYPE II (OMIM:125420)
Gene: DSPP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DENTINOGENESIS IMPERFECTA 1 (OMIM:125490)
Gene: DSPP
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: Scoliosis (HP:0002650)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Thistle tube shaped pulp (HP:0033790)
Associated disease: DENTIN DYSPLASIA, TYPE II (OMIM:125420)
Gene: DSPP
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Yellow-brown discoloration of the teeth (HP:0006286)
Associated disease: DENTINOGENESIS IMPERFECTA 1 (OMIM:125490)
Gene: DSPP
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: DSPP
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Contracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DSPP
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)