TaoMedAI/RareMedData huggingface dataset:
Gene: DMD
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Becker muscular dystrophy; BMD; Becker dystrophinopathy (ORPHA:98895)
Gene: DMD
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Severe dystrophinopathy, Duchenne type; Duchenne muscular dystrophy; DMD (ORPHA:98896)
Gene: DMD
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers (ORPHA:206546)
Gene: DMD
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY, BECKER TYPE (OMIM:300376)
Gene: DMD
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Becker muscular dystrophy; BMD; Becker dystrophinopathy (ORPHA:98895)
Gene: DMD
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Severe dystrophinopathy, Duchenne type; Duchenne muscular dystrophy; DMD (ORPHA:98896)
Gene: DMD
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DMD
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DMD
Phenotype: Arrhythmia (HP:0011675)
Associated disease: MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200)
Gene: DMD
Phenotype: Arrhythmia (HP:0011675)
Associated disease: MUSCULAR DYSTROPHY, BECKER TYPE (OMIM:300376)
Gene: DMD
Phenotype: Abnormality of the lower limb (HP:0002814)
Associated disease: Becker muscular dystrophy; BMD; Becker dystrophinopathy (ORPHA:98895)
Gene: DMD
Phenotype: Absent muscle dystrophin expression (HP:0030097)
Associated disease: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers (ORPHA:206546)
Gene: DMD
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200)
Gene: DMD
Phenotype: Respiratory failure (HP:0002878)
Associated disease: MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200)
Gene: DMD
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DMD
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200)
Gene: DMD
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200)
Gene: DMD
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Becker muscular dystrophy; BMD; Becker dystrophinopathy (ORPHA:98895)
Gene: DMD
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DMD
Phenotype: Fatigue (HP:0012378)
Associated disease: Becker muscular dystrophy; BMD; Becker dystrophinopathy (ORPHA:98895)
Gene: DMD
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers (ORPHA:206546)
Gene: DMD
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers (ORPHA:206546)
Gene: DMD
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers (ORPHA:206546)
Gene: DMD
Phenotype: Myoglobinuria (HP:0002913)
Associated disease: Becker muscular dystrophy; BMD; Becker dystrophinopathy (ORPHA:98895)
Gene: DMD
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Becker muscular dystrophy; BMD; Becker dystrophinopathy (ORPHA:98895)
Gene: DMD
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DMD
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 3B (OMIM:302045)
Gene: DMD
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200)
Gene: DMD
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers (ORPHA:206546)
Gene: DMD
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers (ORPHA:206546)
Gene: DMD
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DMD
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200)
Gene: DMD
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers (ORPHA:206546)
Gene: DMD
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200)
Gene: DMD
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Severe dystrophinopathy, Duchenne type; Duchenne muscular dystrophy; DMD (ORPHA:98896)
Gene: DMD
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: MUSCULAR DYSTROPHY, BECKER TYPE (OMIM:300376)
Gene: DMD
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DMD
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DMD
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers (ORPHA:206546)
Gene: DMD
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200)
Gene: DMD
Phenotype: Pes planus (HP:0001763)
Associated disease: Becker muscular dystrophy; BMD; Becker dystrophinopathy (ORPHA:98895)
Gene: SARDH
Phenotype: Poor speech (HP:0002465)
Associated disease: Sarcosine dehydrogenase complex deficiency; Sarcosinemia (ORPHA:3129)
Gene: SARDH
Phenotype: Infantile sensorineural hearing impairment (HP:0008610)
Associated disease: Sarcosine dehydrogenase complex deficiency; Sarcosinemia (ORPHA:3129)
Gene: SARDH
Phenotype: Hypersarcosinemia (HP:0010896)
Associated disease: Sarcosine dehydrogenase complex deficiency; Sarcosinemia (ORPHA:3129)
Gene: SARDH
Phenotype: Hypersarcosinemia (HP:0010896)
Associated disease: SARCOSINEMIA (OMIM:268900)
Gene: SARDH
Phenotype: Hypersarcosinuria (HP:0010897)
Associated disease: Sarcosine dehydrogenase complex deficiency; Sarcosinemia (ORPHA:3129)
Gene: SARDH
Phenotype: Motor delay (HP:0001270)
Associated disease: Sarcosine dehydrogenase complex deficiency; Sarcosinemia (ORPHA:3129)
Gene: SARDH
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Sarcosine dehydrogenase complex deficiency; Sarcosinemia (ORPHA:3129)
Gene: SARDH
Phenotype: Ataxia (HP:0001251)
Associated disease: Sarcosine dehydrogenase complex deficiency; Sarcosinemia (ORPHA:3129)
Gene: SARDH
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Sarcosine dehydrogenase complex deficiency; Sarcosinemia (ORPHA:3129)
Gene: SARDH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SARCOSINEMIA (OMIM:268900)
Gene: SARDH
Phenotype: Floppy infant (HP:0008947)
Associated disease: Sarcosine dehydrogenase complex deficiency; Sarcosinemia (ORPHA:3129)
Gene: SARDH
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Sarcosine dehydrogenase complex deficiency; Sarcosinemia (ORPHA:3129)
Gene: SARDH
Phenotype: Peroneal muscle weakness (HP:0011727)
Associated disease: Sarcosine dehydrogenase complex deficiency; Sarcosinemia (ORPHA:3129)
Gene: SARDH
Phenotype: Dyslexia (HP:0010522)
Associated disease: Sarcosine dehydrogenase complex deficiency; Sarcosinemia (ORPHA:3129)
Gene: SARDH
Phenotype: Tetraparesis (HP:0002273)
Associated disease: Sarcosine dehydrogenase complex deficiency; Sarcosinemia (ORPHA:3129)
Gene: SARDH
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Sarcosine dehydrogenase complex deficiency; Sarcosinemia (ORPHA:3129)
Gene: SARDH
Phenotype: Loss of speech (HP:0002371)
Associated disease: Sarcosine dehydrogenase complex deficiency; Sarcosinemia (ORPHA:3129)
Gene: SARDH
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Sarcosine dehydrogenase complex deficiency; Sarcosinemia (ORPHA:3129)
Gene: SARDH
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Sarcosine dehydrogenase complex deficiency; Sarcosinemia (ORPHA:3129)
Gene: SARDH
Phenotype: Emotional lability (HP:0000712)
Associated disease: Sarcosine dehydrogenase complex deficiency; Sarcosinemia (ORPHA:3129)
Gene: SARDH
Phenotype: Congenital blindness (HP:0007875)
Associated disease: Sarcosine dehydrogenase complex deficiency; Sarcosinemia (ORPHA:3129)
Gene: SARDH
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Sarcosine dehydrogenase complex deficiency; Sarcosinemia (ORPHA:3129)
Gene: SARDH
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Sarcosine dehydrogenase complex deficiency; Sarcosinemia (ORPHA:3129)
Gene: SARDH
Phenotype: Strabismus (HP:0000486)
Associated disease: Sarcosine dehydrogenase complex deficiency; Sarcosinemia (ORPHA:3129)
Gene: DMP1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DMP1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DMP1
Phenotype: Seizure (HP:0001250)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Renal hypophosphatemia (HP:0008732)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DMP1
Phenotype: Low serum calcitriol (HP:0012052)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1 (OMIM:241520)
Gene: DMP1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DMP1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DMP1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1 (OMIM:241520)
Gene: DMP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DMP1
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Bone pain (HP:0002653)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DMP1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DMP1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Renal phosphate wasting (HP:0000117)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Rickets (HP:0002748)
Associated disease: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1 (OMIM:241520)
Gene: DMP1
Phenotype: Osteomalacia (HP:0002749)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Malabsorption (HP:0002024)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DMP1
Phenotype: Abnormality of vitamin D metabolism (HP:0100511)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Hypocalcemic tetany (HP:0003472)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1 (OMIM:241520)
Gene: DMP1
Phenotype: Spinal canal stenosis (HP:0003416)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Abnormal sacroiliac joint morphology (HP:0100781)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Elevated alkaline phosphatase of bone origin (HP:0010639)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DMP1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Abnormal trabecular bone morphology (HP:0100671)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Enthesitis (HP:0100686)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DMP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DMP1
Phenotype: Hypophosphatemic rickets (HP:0004912)
Associated disease: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1 (OMIM:241520)
Gene: DMP1
Phenotype: Hypophosphatemic rickets (HP:0004912)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DMP1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DMP1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DMP1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DMP1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DMP1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Short stature (HP:0004322)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DMP1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DMP1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Enlargement of the wrists (HP:0003020)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Pseudo-fractures (HP:0100036)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Hyperphosphaturia (HP:0003109)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Tooth abscess (HP:0030757)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DMP1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DMP1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Sclerotic vertebral endplates (HP:0004576)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DMP1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Rickets of the lower limbs (HP:0006463)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Distal femoral bowing (HP:0005096)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Abnormality of the lower limb (HP:0002814)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Coxa vara (HP:0002812)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DMP1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DMP1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Growth delay (HP:0001510)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DMP1
Phenotype: Abnormality of renal excretion (HP:0011036)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DMP1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DMP1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1 (OMIM:241520)
Gene: DMP1
Phenotype: Tibial bowing (HP:0002982)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Genu varum (HP:0002970)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: DMP1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DMP1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DMP1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)