TaoMedAI/RareMedData huggingface dataset:
Gene: DNA2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNA2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: DNA2
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: DNA2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Peters anomaly (HP:0000659)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNA2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Decreased body weight (HP:0004325)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Short stature (HP:0004322)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: DNA2
Phenotype: Short stature (HP:0004322)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Short stature (HP:0004322)
Associated disease: SECKEL SYNDROME 8 (OMIM:615807)
Gene: DNA2
Phenotype: Cachexia (HP:0004326)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: DNA2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNA2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNA2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Depression (HP:0000716)
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: Depression (HP:0000716)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156)
Gene: DNA2
Phenotype: Young adult onset (HP:0011462)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156)
Gene: DNA2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Myopathy (HP:0003198)
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: Myopathy (HP:0003198)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156)
Gene: DNA2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNA2
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNA2
Phenotype: Decreased mitochondrial number (HP:0040013)
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: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156)
Gene: DNA2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNA2
Phenotype: Hippocampal malrotation (HP:0034396)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Reduced circulating growth hormone concentration (HP:0034323)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Osteopenia (HP:0000938)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Narrow face (HP:0000275)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: DNA2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Multiple joint contractures (HP:0002828)
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: Microcephaly (HP:0000252)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: DNA2
Phenotype: Microcephaly (HP:0000252)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Microcephaly (HP:0000252)
Associated disease: SECKEL SYNDROME 8 (OMIM:615807)
Gene: DNA2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156)
Gene: DNA2
Phenotype: Exertional dyspnea (HP:0002875)
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 fetal movement (HP:0001558)
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: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNA2
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156)
Gene: DNA2
Phenotype: Obstructive sleep apnea (HP:0002870)
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: Slender build (HP:0001533)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156)
Gene: DNA2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNA2
Phenotype: Slender build (HP:0001533)
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: Small for gestational age (HP:0001518)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: DNA2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNA2
Phenotype: Absent earlobe (HP:0000387)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: DNA2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Abnormal earlobe morphology (HP:0000363)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: DNA2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNA2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNA2
Phenotype: Micrognathia (HP:0000347)
Associated disease: SECKEL SYNDROME 8 (OMIM:615807)
Gene: DNA2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: DNA2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156)
Gene: DNA2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNA2
Phenotype: Corneal opacity (HP:0007957)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Congenital ptosis (HP:0007970)
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: Depressed nasal bridge (HP:0005280)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: DNA2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: SECKEL SYNDROME 8 (OMIM:615807)
Gene: DNA2
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: DNA2
Phenotype: Cataract (HP:0000518)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Sandal gap (HP:0001852)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: DNA2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNA2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Ptosis (HP:0000508)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156)
Gene: DNA2
Phenotype: Glaucoma (HP:0000501)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Glaucoma (HP:0000501)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: DNA2
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156)
Gene: DNA2
Phenotype: Decreased serum insulin-like growth factor 1 (HP:0030353)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156)
Gene: DNA2
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
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: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Gene: DNA2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNA2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNAH5
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 3 (OMIM:608644)
Gene: DNAH5
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 3 (OMIM:608644)
Gene: DNAH5
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 3 (OMIM:608644)
Gene: DNAH5
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Infantile onset (HP:0003593)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 3 (OMIM:608644)
Gene: DNAH5
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 3 (OMIM:608644)
Gene: DNAH5
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 3 (OMIM:608644)
Gene: DNAH5
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Decreased nasal nitric oxide (HP:0033036)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 3 (OMIM:608644)
Gene: DNAH5
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Ciliary dyskinesia (HP:0012265)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 3 (OMIM:608644)
Gene: DNAH5
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 3 (OMIM:608644)
Gene: DNAH5
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 3 (OMIM:608644)
Gene: DNAH5
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 3 (OMIM:608644)
Gene: DNAH5
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH5
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 46 (OMIM:619095)
Gene: DNAH8
Phenotype: Absent sperm flagella (HP:0032558)
Associated disease: SPERMATOGENIC FAILURE 46 (OMIM:619095)
Gene: DNAH8
Phenotype: Short sperm flagella (HP:0032559)
Associated disease: SPERMATOGENIC FAILURE 46 (OMIM:619095)
Gene: DNAH8
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease: SPERMATOGENIC FAILURE 46 (OMIM:619095)
Gene: DNAH8
Phenotype: Adult onset (HP:0003581)
Associated disease: SPERMATOGENIC FAILURE 46 (OMIM:619095)
Gene: DNAH8
Phenotype: Irregularly shaped sperm tail (HP:0033393)
Associated disease: SPERMATOGENIC FAILURE 46 (OMIM:619095)