TaoMedAI/RareMedData huggingface dataset:
Gene: DMPK
Phenotype: Facial diplegia (HP:0001349)
Associated disease: MYOTONIC DYSTROPHY 1 (OMIM:160900)
Gene: DMPK
Phenotype: Testicular atrophy (HP:0000029)
Associated disease: MYOTONIC DYSTROPHY 1 (OMIM:160900)
Gene: DMPK
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MYOTONIC DYSTROPHY 1 (OMIM:160900)
Gene: DMPK
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYOTONIC DYSTROPHY 1 (OMIM:160900)
Gene: DMPK
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOTONIC DYSTROPHY 1 (OMIM:160900)
Gene: DMPK
Phenotype: Scoliosis (HP:0002650)
Associated disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Gene: DMPK
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Gene: DMPK
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Gene: DMPK
Phenotype: Hypogonadism (HP:0000135)
Associated disease: MYOTONIC DYSTROPHY 1 (OMIM:160900)
Gene: DMPK
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Gene: DMPK
Phenotype: Constipation (HP:0002019)
Associated disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Gene: DMPK
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Gene: DMPK
Phenotype: Diarrhea (HP:0002014)
Associated disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Gene: DMPK
Phenotype: Dysphagia (HP:0002015)
Associated disease: MYOTONIC DYSTROPHY 1 (OMIM:160900)
Gene: DMPK
Phenotype: Dysphagia (HP:0002015)
Associated disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Gene: DMPK
Phenotype: Respiratory distress (HP:0002098)
Associated disease: MYOTONIC DYSTROPHY 1 (OMIM:160900)
Gene: DMPK
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MYOTONIC DYSTROPHY 1 (OMIM:160900)
Gene: DMPK
Phenotype: Bundle branch block (HP:0011710)
Associated disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Gene: DMPK
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Gene: DMPK
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: MYOTONIC DYSTROPHY 1 (OMIM:160900)
Gene: DMPK
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Gene: DMPK
Phenotype: Atrial flutter (HP:0004749)
Associated disease: MYOTONIC DYSTROPHY 1 (OMIM:160900)
Gene: DMPK
Phenotype: Frontal balding (HP:0002292)
Associated disease: MYOTONIC DYSTROPHY 1 (OMIM:160900)
Gene: DMPK
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Gene: DMPK
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Gene: DMPK
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Gene: DMPK
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: MYOTONIC DYSTROPHY 1 (OMIM:160900)
Gene: DMPK
Phenotype: Abnormally slow thought process (HP:0031843)
Associated disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Gene: DMPK
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: MYOTONIC DYSTROPHY 1 (OMIM:160900)
Gene: DMPK
Phenotype: Decreased body weight (HP:0004325)
Associated disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Gene: DMPK
Phenotype: Enuresis (HP:0000805)
Associated disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Gene: DMPK
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Gene: DMPK
Phenotype: Short attention span (HP:0000736)
Associated disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Gene: DMPK
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Gene: DMPK
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Gene: DMPK
Phenotype: Encopresis (HP:0040183)
Associated disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Gene: DMPK
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Gene: DMPK
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Gene: DMPK
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: MYOTONIC DYSTROPHY 1 (OMIM:160900)
Gene: DMPK
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: MYOTONIC DYSTROPHY 1 (OMIM:160900)
Gene: DMPK
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Gene: DMPK
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: MYOTONIC DYSTROPHY 1 (OMIM:160900)
Gene: DMPK
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Gene: DMPK
Phenotype: Obesity (HP:0001513)
Associated disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Gene: DMPK
Phenotype: Speech apraxia (HP:0011098)
Associated disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Gene: DMPK
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Gene: DMPK
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Gene: DMPK
Phenotype: Premature birth (HP:0001622)
Associated disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Gene: DMPK
Phenotype: Cataract (HP:0000518)
Associated disease: MYOTONIC DYSTROPHY 1 (OMIM:160900)
Gene: DMPK
Phenotype: Cataract (HP:0000518)
Associated disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Gene: DMPK
Phenotype: Talipes (HP:0001883)
Associated disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Gene: DMRT1
Phenotype: Testicular dysgenesis (HP:0008715)
Associated disease: 46,XY CGD; 46,XY pure gonadal dysgenesis; 46,XY complete gonadal dysgenesis; Swyer syndrome (ORPHA:242)
Gene: DMRT1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: 46,XY CGD; 46,XY pure gonadal dysgenesis; 46,XY complete gonadal dysgenesis; Swyer syndrome (ORPHA:242)
Gene: DMRT1
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: 46,XY CGD; 46,XY pure gonadal dysgenesis; 46,XY complete gonadal dysgenesis; Swyer syndrome (ORPHA:242)
Gene: DMRT1
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: 46,XY CGD; 46,XY pure gonadal dysgenesis; 46,XY complete gonadal dysgenesis; Swyer syndrome (ORPHA:242)
Gene: DNA2
Phenotype: Pelvic girdle muscle weakness (HP:0003749)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156)
Gene: DNA2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNA2
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: Mitochondrial DNA deletion syndrome with limb-girdle weakness; Mitochondrial DNA deletion syndrome with progressive myopathy; DNA2-related mitochondrial DNA deletion syndrome; mtDNA deletion syndrome with progressive myopathy; mtDNA deletion syndrome with limb-girdle weakness (ORPHA:352470)
Gene: DNA2
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156)
Gene: DNA2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNA2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Mitochondrial DNA deletion syndrome with limb-girdle weakness; Mitochondrial DNA deletion syndrome with progressive myopathy; DNA2-related mitochondrial DNA deletion syndrome; mtDNA deletion syndrome with progressive myopathy; mtDNA deletion syndrome with limb-girdle weakness (ORPHA:352470)
Gene: DNA2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156)
Gene: DNA2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Mitochondrial DNA deletion syndrome with limb-girdle weakness; Mitochondrial DNA deletion syndrome with progressive myopathy; DNA2-related mitochondrial DNA deletion syndrome; mtDNA deletion syndrome with progressive myopathy; mtDNA deletion syndrome with limb-girdle weakness (ORPHA:352470)
Gene: DNA2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: DNA2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SECKEL SYNDROME 8 (OMIM:615807)
Gene: DNA2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SECKEL SYNDROME 8 (OMIM:615807)
Gene: DNA2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNA2
Phenotype: Falls (HP:0002527)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156)
Gene: DNA2
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: SECKEL SYNDROME 8 (OMIM:615807)
Gene: DNA2
Phenotype: Micropenis (HP:0000054)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: DNA2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: DNA2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: DNA2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNA2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: DNA2
Phenotype: Neoplasm (HP:0002664)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156)
Gene: DNA2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNA2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SECKEL SYNDROME 8 (OMIM:615807)
Gene: DNA2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156)
Gene: DNA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNA2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: DNA2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNA2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNA2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: SECKEL SYNDROME 8 (OMIM:615807)
Gene: DNA2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: DNA2
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: Mitochondrial DNA deletion syndrome with limb-girdle weakness; Mitochondrial DNA deletion syndrome with progressive myopathy; DNA2-related mitochondrial DNA deletion syndrome; mtDNA deletion syndrome with progressive myopathy; mtDNA deletion syndrome with limb-girdle weakness (ORPHA:352470)
Gene: DNA2
Phenotype: Myalgia (HP:0003326)
Associated disease: Mitochondrial DNA deletion syndrome with limb-girdle weakness; Mitochondrial DNA deletion syndrome with progressive myopathy; DNA2-related mitochondrial DNA deletion syndrome; mtDNA deletion syndrome with progressive myopathy; mtDNA deletion syndrome with limb-girdle weakness (ORPHA:352470)
Gene: DNA2
Phenotype: Myalgia (HP:0003326)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156)
Gene: DNA2
Phenotype: Decreased facial expression (HP:0004673)
Associated disease: Mitochondrial DNA deletion syndrome with limb-girdle weakness; Mitochondrial DNA deletion syndrome with progressive myopathy; DNA2-related mitochondrial DNA deletion syndrome; mtDNA deletion syndrome with progressive myopathy; mtDNA deletion syndrome with limb-girdle weakness (ORPHA:352470)
Gene: DNA2
Phenotype: Decreased facial expression (HP:0004673)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156)
Gene: DNA2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Mitochondrial DNA deletion syndrome with limb-girdle weakness; Mitochondrial DNA deletion syndrome with progressive myopathy; DNA2-related mitochondrial DNA deletion syndrome; mtDNA deletion syndrome with progressive myopathy; mtDNA deletion syndrome with limb-girdle weakness (ORPHA:352470)
Gene: DNA2
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156)
Gene: DNA2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: DNA2
Phenotype: Dyspnea (HP:0002094)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156)
Gene: DNA2
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Mitochondrial DNA deletion syndrome with limb-girdle weakness; Mitochondrial DNA deletion syndrome with progressive myopathy; DNA2-related mitochondrial DNA deletion syndrome; mtDNA deletion syndrome with progressive myopathy; mtDNA deletion syndrome with limb-girdle weakness (ORPHA:352470)
Gene: DNA2
Phenotype: Muscle spasm (HP:0003394)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156)
Gene: DNA2
Phenotype: Gowers sign (HP:0003391)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156)
Gene: DNA2
Phenotype: Gowers sign (HP:0003391)
Associated disease: Mitochondrial DNA deletion syndrome with limb-girdle weakness; Mitochondrial DNA deletion syndrome with progressive myopathy; DNA2-related mitochondrial DNA deletion syndrome; mtDNA deletion syndrome with progressive myopathy; mtDNA deletion syndrome with limb-girdle weakness (ORPHA:352470)
Gene: DNA2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNA2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: SECKEL SYNDROME 8 (OMIM:615807)
Gene: DNA2
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: DNA2
Phenotype: Infantile onset (HP:0003593)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Congenital onset (HP:0003577)
Associated disease: SECKEL SYNDROME 8 (OMIM:615807)
Gene: DNA2
Phenotype: Adult onset (HP:0003581)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156)
Gene: DNA2
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156)
Gene: DNA2
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156)
Gene: DNA2
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156)
Gene: DNA2
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: DNA2
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Elevated creatine kinase after exercise (HP:0008331)
Associated disease: Mitochondrial DNA deletion syndrome with limb-girdle weakness; Mitochondrial DNA deletion syndrome with progressive myopathy; DNA2-related mitochondrial DNA deletion syndrome; mtDNA deletion syndrome with progressive myopathy; mtDNA deletion syndrome with limb-girdle weakness (ORPHA:352470)
Gene: DNA2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Poikiloderma (HP:0001029)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Multiple mitochondrial DNA deletions (HP:0003689)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156)
Gene: DNA2
Phenotype: Slowly progressive (HP:0003677)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156)
Gene: DNA2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNA2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Empty sella turcica (HP:6000483)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: DNA2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNA2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNA2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNA2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: DNA2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNA2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNA2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)