TaoMedAI/RareMedData huggingface dataset:
Gene: PRDM13
Phenotype: Paroxysmal dystonia (HP:0002268)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 (OMIM:619909)
Gene: PRDM13
Phenotype: Infantile onset (HP:0003593)
Associated disease: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM (OMIM:619761)
Gene: PRDM13
Phenotype: Congenital onset (HP:0003577)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 (OMIM:619909)
Gene: PRDM13
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 (OMIM:619909)
Gene: PRDM13
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRDM13
Phenotype: Nystagmus (HP:0000639)
Associated disease: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM (OMIM:619761)
Gene: PRDM13
Phenotype: Nystagmus (HP:0000639)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 (OMIM:619909)
Gene: PRDM13
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRDM13
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRDM13
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRDM13
Phenotype: Cerebellar hemisphere hypoplasia (HP:0100307)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 (OMIM:619909)
Gene: PRDM13
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM (OMIM:619761)
Gene: PRDM13
Phenotype: Epicanthus (HP:0000286)
Associated disease: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM (OMIM:619761)
Gene: PRDM13
Phenotype: Epicanthus (HP:0000286)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 (OMIM:619909)
Gene: PRDM13
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 (OMIM:619909)
Gene: PRDM13
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRDM13
Phenotype: Kyphosis (HP:0002808)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 (OMIM:619909)
Gene: PRDM13
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM (OMIM:619761)
Gene: PRDM13
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM (OMIM:619761)
Gene: PRDM13
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 (OMIM:619909)
Gene: PRDM13
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRDM13
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 (OMIM:619909)
Gene: PRDM13
Phenotype: Hypertelorism (HP:0000316)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 (OMIM:619909)
Gene: PRDM13
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 (OMIM:619909)
Gene: PRDM13
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 (OMIM:619909)
Gene: PRDM13
Phenotype: Microretrognathia (HP:0000308)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 (OMIM:619909)
Gene: PRDM13
Phenotype: Strabismus (HP:0000486)
Associated disease: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM (OMIM:619761)
Gene: PRDM13
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRDM13
Phenotype: Decreased circulating luteinizing hormone level (HP:0030344)
Associated disease: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM (OMIM:619761)
Gene: PRDM13
Phenotype: Decreased circulating follicle stimulating hormone concentration (HP:0030341)
Associated disease: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM (OMIM:619761)
Gene: PRDM13
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 (OMIM:619909)
Gene: PRDM13
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRDM13
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRDM13
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRPV4
Phenotype: Brachydactyly (HP:0001156)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Familial digital arthropathy-brachydactyly (ORPHA:85169)
Gene: TRPV4
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Short middle phalanx of toe (HP:0003795)
Associated disease: DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL (OMIM:606835)
Gene: TRPV4
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII (OMIM:600175)
Gene: TRPV4
Phenotype: Short stepped shuffling gait (HP:0007311)
Associated disease: Familial osteonecrosis of the femoral head; Familial avascular necrosis of femoral head (ORPHA:86820)
Gene: TRPV4
Phenotype: Spinal muscular atrophy (HP:0007269)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII (OMIM:600175)
Gene: TRPV4
Phenotype: Decreased distal sensory nerve action potential (HP:0007230)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL (OMIM:606835)
Gene: TRPV4
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Familial digital arthropathy-brachydactyly (ORPHA:85169)
Gene: TRPV4
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV4
Phenotype: Shoulder girdle muscle atrophy (HP:0003724)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV4
Phenotype: Long thorax (HP:0100818)
Associated disease: Metatropic dysplasia; Metatropic dwarfism (ORPHA:2635)
Gene: TRPV4
Phenotype: Motor delay (HP:0001270)
Associated disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
Gene: TRPV4
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Areflexia (HP:0001284)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Areflexia (HP:0001284)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII (OMIM:600175)
Gene: TRPV4
Phenotype: Areflexia (HP:0001284)
Associated disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
Gene: TRPV4
Phenotype: Hypotonia (HP:0001252)
Associated disease: Congenital benign spinal muscular atrophy with contractures; Autosomal dominant congenital benign spinal muscular atrophy; Congenital nonprogressive spinal muscular atrophy; Autosomal dominant benign distal spinal muscular atrophy (ORPHA:1216)
Gene: TRPV4
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BRACHYOLMIA TYPE 3 (OMIM:113500)
Gene: TRPV4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PARASTREMMATIC DWARFISM (OMIM:168400)
Gene: TRPV4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE (OMIM:184095)
Gene: TRPV4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Short tubular bones of the hand (HP:0001248)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII (OMIM:600175)
Gene: TRPV4
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
Gene: TRPV4
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Crescent-shaped iliac bone (HP:6000653)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Short femoral neck (HP:0100864)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE (OMIM:184095)
Gene: TRPV4
Phenotype: Short femoral neck (HP:0100864)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Short femoral neck (HP:0100864)
Associated disease: BRACHYOLMIA TYPE 3 (OMIM:113500)
Gene: TRPV4
Phenotype: Impairment of activities of daily living (HP:0031058)
Associated disease: Familial osteonecrosis of the femoral head; Familial avascular necrosis of femoral head (ORPHA:86820)
Gene: TRPV4
Phenotype: Delayed ossification of carpal bones (HP:0001216)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)
Gene: TRPV4
Phenotype: Waddling gait (HP:0002515)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV4
Phenotype: Waddling gait (HP:0002515)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)
Gene: TRPV4
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII (OMIM:600175)
Gene: TRPV4
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
Gene: TRPV4
Phenotype: Flattened femoral head (HP:0008812)
Associated disease: Familial osteonecrosis of the femoral head; Familial avascular necrosis of femoral head (ORPHA:86820)
Gene: TRPV4
Phenotype: Limited hip movement (HP:0008800)
Associated disease: Familial osteonecrosis of the femoral head; Familial avascular necrosis of femoral head (ORPHA:86820)
Gene: TRPV4
Phenotype: Flexion contracture (HP:0001371)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Flexion contracture (HP:0001371)
Associated disease: PARASTREMMATIC DWARFISM (OMIM:168400)
Gene: TRPV4
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
Gene: TRPV4
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Congenital benign spinal muscular atrophy with contractures; Autosomal dominant congenital benign spinal muscular atrophy; Congenital nonprogressive spinal muscular atrophy; Autosomal dominant benign distal spinal muscular atrophy (ORPHA:1216)
Gene: TRPV4
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Metatropic dysplasia; Metatropic dwarfism (ORPHA:2635)
Gene: TRPV4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV4
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Shortening of all middle phalanges of the toes (HP:0006239)
Associated disease: Familial digital arthropathy-brachydactyly (ORPHA:85169)
Gene: TRPV4
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Hip osteoarthritis (HP:0008843)
Associated disease: Familial osteonecrosis of the femoral head; Familial avascular necrosis of femoral head (ORPHA:86820)
Gene: TRPV4
Phenotype: Irregular acetabular roof (HP:0008833)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)
Gene: TRPV4
Phenotype: Abnormal humeral metaphysis morphology (HP:0003907)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Flared humeral metaphysis (HP:0003911)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV4
Phenotype: Spondylometaphyseal dysplasia (HP:0002657)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)
Gene: TRPV4
Phenotype: Spondyloepiphyseal dysplasia (HP:0002655)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE (OMIM:184095)
Gene: TRPV4
Phenotype: Urinary urgency (HP:0000012)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII (OMIM:600175)
Gene: TRPV4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)
Gene: TRPV4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
Gene: TRPV4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PARASTREMMATIC DWARFISM (OMIM:168400)
Gene: TRPV4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL (OMIM:606835)
Gene: TRPV4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRACHYOLMIA TYPE 3 (OMIM:113500)
Gene: TRPV4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2 (OMIM:617383)
Gene: TRPV4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE (OMIM:184095)
Gene: TRPV4
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Metatropic dysplasia; Metatropic dwarfism (ORPHA:2635)
Gene: TRPV4
Phenotype: Scoliosis (HP:0002650)
Associated disease: BRACHYOLMIA TYPE 3 (OMIM:113500)
Gene: TRPV4
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII (OMIM:600175)
Gene: TRPV4
Phenotype: Scoliosis (HP:0002650)
Associated disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
Gene: TRPV4
Phenotype: Scoliosis (HP:0002650)
Associated disease: PARASTREMMATIC DWARFISM (OMIM:168400)
Gene: TRPV4
Phenotype: Scoliosis (HP:0002650)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Scoliosis (HP:0002650)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV4
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)
Gene: TRPV4
Phenotype: Scoliosis (HP:0002650)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Scoliosis (HP:0002650)
Associated disease: Metatropic dysplasia; Metatropic dwarfism (ORPHA:2635)
Gene: TRPV4
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV4
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Childhood-onset short-trunk short stature (HP:0008922)
Associated disease: BRACHYOLMIA TYPE 3 (OMIM:113500)
Gene: TRPV4
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Carpal bone hypoplasia (HP:0001498)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)
Gene: TRPV4
Phenotype: Carpal bone hypoplasia (HP:0001498)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Cleft palate (HP:0000175)
Associated disease: Metatropic dysplasia; Metatropic dwarfism (ORPHA:2635)
Gene: TRPV4
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Nonprogressive muscular atrophy (HP:0008964)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII (OMIM:600175)
Gene: TRPV4
Phenotype: Nonprogressive muscular atrophy (HP:0008964)
Associated disease: Congenital benign spinal muscular atrophy with contractures; Autosomal dominant congenital benign spinal muscular atrophy; Congenital nonprogressive spinal muscular atrophy; Autosomal dominant benign distal spinal muscular atrophy (ORPHA:1216)
Gene: TRPV4
Phenotype: Proximal upper limb amyotrophy (HP:0008948)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Proximal lower limb amyotrophy (HP:0008956)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII (OMIM:600175)
Gene: TRPV4
Phenotype: Progressive distal muscular atrophy (HP:0008955)
Associated disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
Gene: TRPV4
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII (OMIM:600175)
Gene: TRPV4
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Relatively short spine (HP:0002766)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)
Gene: TRPV4
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Brachyolmia type 3; Autosomal dominant brachyolmia (ORPHA:93304)
Gene: TRPV4
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE (OMIM:184095)
Gene: TRPV4
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL (OMIM:606835)
Gene: TRPV4
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)
Gene: TRPV4
Phenotype: Abnormal femoral neck/head morphology (HP:0003366)
Associated disease: Familial osteonecrosis of the femoral head; Familial avascular necrosis of femoral head (ORPHA:86820)
Gene: TRPV4
Phenotype: Absent primary metaphyseal spongiosa (HP:0003332)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Abnormal enchondral ossification (HP:0003336)
Associated disease: Metatropic dysplasia; Metatropic dwarfism (ORPHA:2635)
Gene: TRPV4
Phenotype: Abnormal enchondral ossification (HP:0003336)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Abnormal enchondral ossification (HP:0003336)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Metatropic dysplasia; Metatropic dwarfism (ORPHA:2635)
Gene: TRPV4
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)
Gene: TRPV4
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII (OMIM:600175)
Gene: TRPV4
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
Gene: TRPV4
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
Gene: TRPV4
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: Familial osteonecrosis of the femoral head; Familial avascular necrosis of femoral head (ORPHA:86820)
Gene: TRPV4
Phenotype: Gowers sign (HP:0003391)
Associated disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
Gene: TRPV4
Phenotype: Narrow greater sciatic notch (HP:0003375)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)
Gene: TRPV4
Phenotype: Narrow greater sciatic notch (HP:0003375)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV4
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL (OMIM:606835)
Gene: TRPV4
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: BRACHYOLMIA TYPE 3 (OMIM:113500)
Gene: TRPV4
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Peroneal muscle weakness (HP:0011727)
Associated disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
Gene: TRPV4
Phenotype: Mucopolysacchariduria (HP:0008155)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE (OMIM:184095)
Gene: TRPV4
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Atlantoaxial instability (HP:0003467)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE (OMIM:184095)
Gene: TRPV4
Phenotype: Broad-based gait (HP:0002136)
Associated disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)