TaoMedAI/RareMedData huggingface dataset:
Gene: ACTN2
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ACTN2
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ACTN2
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION (OMIM:612158)
Gene: ACTN2
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES (OMIM:618654)
Gene: ACTN2
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT (OMIM:618655)
Gene: ACTN2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT (OMIM:618655)
Gene: ACTN2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION (OMIM:612158)
Gene: ACTN2
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT (OMIM:618655)
Gene: ACTN2
Phenotype: Left ventricular noncompaction (HP:0030682)
Associated disease: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION (OMIM:612158)
Gene: ACTN2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES (OMIM:618654)
Gene: ACTN2
Phenotype: Young adult onset (HP:0011462)
Associated disease: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION (OMIM:612158)
Gene: ACTN2
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ACTN2
Phenotype: Death in adolescence (HP:0011421)
Associated disease: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION (OMIM:612158)
Gene: ACTN2
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ACTN2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT (OMIM:618655)
Gene: ACTN2
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ACTN2
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES (OMIM:618654)
Gene: ACTN2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ACTN2
Phenotype: Weak extraocular muscles (HP:0007715)
Associated disease: MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES (OMIM:618654)
Gene: ACTN2
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION (OMIM:612158)
Gene: ACTN2
Phenotype: Myofiber disarray (HP:0031318)
Associated disease: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION (OMIM:612158)
Gene: ACTN2
Phenotype: Cardiomyocyte hypertrophy (HP:0031319)
Associated disease: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION (OMIM:612158)
Gene: ACTN2
Phenotype: High palate (HP:0000218)
Associated disease: MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES (OMIM:618654)
Gene: ACTN2
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ACTN2
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ACTN2
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION (OMIM:612158)
Gene: ACTN2
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION (OMIM:612158)
Gene: ACTN2
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ACTN2
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION (OMIM:612158)
Gene: ACTN2
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES (OMIM:618654)
Gene: ACTN2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION (OMIM:612158)
Gene: ACTN2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ACTN2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES (OMIM:618654)
Gene: ACTN2
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES (OMIM:618654)
Gene: ACTN2
Phenotype: Endocardial fibrosis (HP:0006685)
Associated disease: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION (OMIM:612158)
Gene: ACTN2
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ACTN2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ACTN2
Phenotype: Endocardial fibroelastosis (HP:0001706)
Associated disease: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION (OMIM:612158)
Gene: ACTN2
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION (OMIM:612158)
Gene: ACTN2
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES (OMIM:618654)
Gene: ACVR1
Phenotype: Abnormal thumb morphology (HP:0001172)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACVR1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACVR1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (OMIM:135100)
Gene: ACVR1
Phenotype: Seizure (HP:0001250)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACVR1
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACVR1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACVR1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACVR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (OMIM:135100)
Gene: ACVR1
Phenotype: Scoliosis (HP:0002650)
Associated disease: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (OMIM:135100)
Gene: ACVR1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACVR1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Deep venous thrombosis (HP:0002625)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACVR1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Delayed toe phalanx ossification (HP:6000952)
Associated disease: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (OMIM:135100)
Gene: ACVR1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Abnormal femoral neck morphology (HP:0003367)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Limitation of neck motion (HP:0005986)
Associated disease: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (OMIM:135100)
Gene: ACVR1
Phenotype: Small cervical vertebral bodies (HP:0004629)
Associated disease: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (OMIM:135100)
Gene: ACVR1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (OMIM:135100)
Gene: ACVR1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACVR1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (OMIM:135100)
Gene: ACVR1
Phenotype: Hamartoma (HP:0010566)
Associated disease: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (OMIM:135100)
Gene: ACVR1
Phenotype: Congenital onset (HP:0003577)
Associated disease: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (OMIM:135100)
Gene: ACVR1
Phenotype: Ectopic ossification (HP:0011986)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Ectopic ossification in muscle tissue (HP:0011987)
Associated disease: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (OMIM:135100)
Gene: ACVR1
Phenotype: Ectopic ossification in muscle tissue (HP:0011987)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Ectopic ossification in tendon tissue (HP:0011988)
Associated disease: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (OMIM:135100)
Gene: ACVR1
Phenotype: Ectopic ossification in ligament tissue (HP:0011989)
Associated disease: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (OMIM:135100)
Gene: ACVR1
Phenotype: Ectopic ossification in ligament tissue (HP:0011989)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Lymphedema (HP:0001004)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACVR1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Progressive cervical vertebral spine fusion (HP:0008449)
Associated disease: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (OMIM:135100)
Gene: ACVR1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACVR1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACVR1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACVR1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (OMIM:135100)
Gene: ACVR1
Phenotype: Aplasia/Hypoplasia of the phalanges of the hallux (HP:0010058)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACVR1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACVR1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Anemia (HP:0001903)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACVR1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Abnormality of the first metatarsal bone (HP:0010054)
Associated disease: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (OMIM:135100)
Gene: ACVR1
Phenotype: Abnormality of the first metatarsal bone (HP:0010054)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Short 1st metacarpal (HP:0010034)
Associated disease: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (OMIM:135100)
Gene: ACVR1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (OMIM:135100)
Gene: ACVR1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACVR1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACVR1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACVR1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (OMIM:135100)
Gene: ACVR1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Short hallux (HP:0010109)
Associated disease: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (OMIM:135100)
Gene: ACVR1
Phenotype: Short hallux (HP:0010109)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (OMIM:135100)
Gene: ACVR1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACVR1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACVR1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACVR1
Phenotype: Hip pain (HP:0030838)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Synostosis of joints (HP:0100240)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Alopecia (HP:0001596)
Associated disease: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (OMIM:135100)
Gene: ACVR1
Phenotype: Alopecia (HP:0001596)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Broad femoral neck (HP:0006429)
Associated disease: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (OMIM:135100)
Gene: ACVR1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (OMIM:135100)
Gene: ACVR1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACVR1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACVR1
Phenotype: Enchondroma (HP:0030038)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACVR1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Fused cervical vertebrae (HP:0002949)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACVR1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACVR1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)