TaoMedAI/RareMedData huggingface dataset:
Gene: DLX5
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX5
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX5
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX5
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX5
Phenotype: Hand monodactyly (HP:0004058)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: DLX5
Phenotype: Absent hand (HP:0004050)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: DLX5
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL RECESSIVE (OMIM:220600)
Gene: DLX5
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: DLX5
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX5
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX5
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX5
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX5
Phenotype: Foot oligodactyly (HP:0001849)
Associated disease: SPLIT-HAND/FOOT MALFORMATION 1 (OMIM:183600)
Gene: DLX5
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX5
Phenotype: Aniridia (HP:0000526)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: DLX5
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX5
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX5
Phenotype: Split foot (HP:0001839)
Associated disease: SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL RECESSIVE (OMIM:220600)
Gene: DLX5
Phenotype: Split foot (HP:0001839)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: DLX5
Phenotype: Split foot (HP:0001839)
Associated disease: SPLIT-HAND/FOOT MALFORMATION 1 (OMIM:183600)
Gene: DLX5
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX5
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX5
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX6
Phenotype: Split hand (HP:0001171)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: DLX6
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX6
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX6
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: DLX6
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX6
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX6
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX6
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX6
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX6
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX6
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Oligodactyly (HP:0012165)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: DLX6
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX6
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX6
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX6
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX6
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX6
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX6
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX6
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX6
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX6
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX6
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX6
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX6
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX6
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX6
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX6
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX6
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX6
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX6
Phenotype: Hand monodactyly (HP:0004058)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: DLX6
Phenotype: Absent hand (HP:0004050)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: DLX6
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: DLX6
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Aniridia (HP:0000526)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: DLX6
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLX6
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Split foot (HP:0001839)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: DLX6
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLX6
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DMD
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DMD
Phenotype: Quadriceps muscle weakness (HP:0003731)
Associated disease: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers (ORPHA:206546)
Gene: DMD
Phenotype: Calf muscle pseudohypertrophy (HP:0003707)
Associated disease: MUSCULAR DYSTROPHY, BECKER TYPE (OMIM:300376)
Gene: DMD
Phenotype: Calf muscle pseudohypertrophy (HP:0003707)
Associated disease: MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200)
Gene: DMD
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Severe dystrophinopathy, Duchenne type; Duchenne muscular dystrophy; DMD (ORPHA:98896)
Gene: DMD
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers (ORPHA:206546)
Gene: DMD
Phenotype: Exercise-induced muscle cramps (HP:0003710)
Associated disease: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers (ORPHA:206546)
Gene: DMD
Phenotype: Increased circulating creatine kinase MB isoform (HP:0032232)
Associated disease: CARDIOMYOPATHY, DILATED, 3B (OMIM:302045)
Gene: DMD
Phenotype: Motor delay (HP:0001270)
Associated disease: Severe dystrophinopathy, Duchenne type; Duchenne muscular dystrophy; DMD (ORPHA:98896)
Gene: DMD
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Becker muscular dystrophy; BMD; Becker dystrophinopathy (ORPHA:98895)
Gene: DMD
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200)
Gene: DMD
Phenotype: Hypotonia (HP:0001252)
Associated disease: MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200)
Gene: DMD
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200)
Gene: DMD
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MUSCULAR DYSTROPHY, BECKER TYPE (OMIM:300376)
Gene: DMD
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Severe dystrophinopathy, Duchenne type; Duchenne muscular dystrophy; DMD (ORPHA:98896)
Gene: DMD
Phenotype: Inability to walk (HP:0002540)
Associated disease: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers (ORPHA:206546)
Gene: DMD
Phenotype: Waddling gait (HP:0002515)
Associated disease: MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200)
Gene: DMD
Phenotype: Waddling gait (HP:0002515)
Associated disease: Severe dystrophinopathy, Duchenne type; Duchenne muscular dystrophy; DMD (ORPHA:98896)
Gene: DMD
Phenotype: Falls (HP:0002527)
Associated disease: Becker muscular dystrophy; BMD; Becker dystrophinopathy (ORPHA:98895)
Gene: DMD
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200)
Gene: DMD
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200)
Gene: DMD
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Severe dystrophinopathy, Duchenne type; Duchenne muscular dystrophy; DMD (ORPHA:98896)
Gene: DMD
Phenotype: Abnormal urinary color (HP:0012086)
Associated disease: Becker muscular dystrophy; BMD; Becker dystrophinopathy (ORPHA:98895)
Gene: DMD
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Severe dystrophinopathy, Duchenne type; Duchenne muscular dystrophy; DMD (ORPHA:98896)
Gene: DMD
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200)
Gene: DMD
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Becker muscular dystrophy; BMD; Becker dystrophinopathy (ORPHA:98895)
Gene: DMD
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MUSCULAR DYSTROPHY, BECKER TYPE (OMIM:300376)
Gene: DMD
Phenotype: Scoliosis (HP:0002650)
Associated disease: MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200)
Gene: DMD
Phenotype: Scoliosis (HP:0002650)
Associated disease: Severe dystrophinopathy, Duchenne type; Duchenne muscular dystrophy; DMD (ORPHA:98896)
Gene: DMD
Phenotype: Increased left ventricular end-diastolic volume (HP:0033755)
Associated disease: CARDIOMYOPATHY, DILATED, 3B (OMIM:302045)
Gene: DMD
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200)
Gene: DMD
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers (ORPHA:206546)
Gene: DMD
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: Severe dystrophinopathy, Duchenne type; Duchenne muscular dystrophy; DMD (ORPHA:98896)
Gene: DMD
Phenotype: Hypoventilation (HP:0002791)
Associated disease: MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200)
Gene: DMD
Phenotype: Abnormality of the shoulder girdle musculature (HP:0001435)
Associated disease: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers (ORPHA:206546)
Gene: DMD
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200)
Gene: DMD
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MUSCULAR DYSTROPHY, BECKER TYPE (OMIM:300376)
Gene: DMD
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: CARDIOMYOPATHY, DILATED, 3B (OMIM:302045)
Gene: DMD
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200)
Gene: DMD
Phenotype: Myalgia (HP:0003326)
Associated disease: Becker muscular dystrophy; BMD; Becker dystrophinopathy (ORPHA:98895)
Gene: DMD
Phenotype: Myalgia (HP:0003326)
Associated disease: MUSCULAR DYSTROPHY, BECKER TYPE (OMIM:300376)
Gene: DMD
Phenotype: Myalgia (HP:0003326)
Associated disease: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers (ORPHA:206546)
Gene: DMD
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200)
Gene: DMD
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: Severe dystrophinopathy, Duchenne type; Duchenne muscular dystrophy; DMD (ORPHA:98896)
Gene: DMD
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers (ORPHA:206546)
Gene: DMD
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Severe dystrophinopathy, Duchenne type; Duchenne muscular dystrophy; DMD (ORPHA:98896)
Gene: DMD
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Severe dystrophinopathy, Duchenne type; Duchenne muscular dystrophy; DMD (ORPHA:98896)
Gene: DMD
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200)
Gene: DMD
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Becker muscular dystrophy; BMD; Becker dystrophinopathy (ORPHA:98895)
Gene: DMD
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers (ORPHA:206546)
Gene: DMD
Phenotype: Gowers sign (HP:0003391)
Associated disease: MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200)
Gene: DMD
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DMD
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DMD
Phenotype: Distal sensory impairment of all modalities (HP:0003409)
Associated disease: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers (ORPHA:206546)
Gene: DMD
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200)
Gene: DMD
Phenotype: Adult onset (HP:0003581)
Associated disease: MUSCULAR DYSTROPHY, BECKER TYPE (OMIM:300376)
Gene: DMD
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200)
Gene: DMD
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Becker muscular dystrophy; BMD; Becker dystrophinopathy (ORPHA:98895)
Gene: DMD
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Becker muscular dystrophy; BMD; Becker dystrophinopathy (ORPHA:98895)
Gene: DMD
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200)
Gene: DMD
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY, BECKER TYPE (OMIM:300376)
Gene: DMD
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: CARDIOMYOPATHY, DILATED, 3B (OMIM:302045)
Gene: DMD
Phenotype: Fasciculations (HP:0002380)
Associated disease: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers (ORPHA:206546)
Gene: DMD
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CARDIOMYOPATHY, DILATED, 3B (OMIM:302045)
Gene: DMD
Phenotype: Hamstring contractures (HP:0003089)
Associated disease: MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200)
Gene: DMD
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Severe dystrophinopathy, Duchenne type; Duchenne muscular dystrophy; DMD (ORPHA:98896)
Gene: DMD
Phenotype: Childhood onset (HP:0011463)
Associated disease: MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200)
Gene: DMD
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DMD
Phenotype: Abnormal EKG (HP:0003115)
Associated disease: MUSCULAR DYSTROPHY, BECKER TYPE (OMIM:300376)
Gene: DMD
Phenotype: Abnormal EKG (HP:0003115)
Associated disease: MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200)
Gene: DMD
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DMD
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200)