TaoMedAI/RareMedData huggingface dataset:
Gene: TRPV4
Phenotype: Proximal femoral metaphyseal irregularity (HP:0003411)
Associated disease: BRACHYOLMIA TYPE 3 (OMIM:113500)
Gene: TRPV4
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: BRACHYOLMIA TYPE 3 (OMIM:113500)
Gene: TRPV4
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Metatropic dysplasia; Metatropic dwarfism (ORPHA:2635)
Gene: TRPV4
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Infantile onset (HP:0003593)
Associated disease: PARASTREMMATIC DWARFISM (OMIM:168400)
Gene: TRPV4
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)
Gene: TRPV4
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII (OMIM:600175)
Gene: TRPV4
Phenotype: Congenital onset (HP:0003577)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Muscle fiber splitting (HP:0003555)
Associated disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
Gene: TRPV4
Phenotype: Intercostal muscle weakness (HP:0004878)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Abnormal metaphyseal vascular invasion (HP:0003562)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Small joint hypermobilty (HP:0430046)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE (OMIM:184095)
Gene: TRPV4
Phenotype: Facial palsy (HP:0010628)
Associated disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
Gene: TRPV4
Phenotype: Severe short stature (HP:0003510)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Severe short stature (HP:0003510)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Severe short stature (HP:0003510)
Associated disease: PARASTREMMATIC DWARFISM (OMIM:168400)
Gene: TRPV4
Phenotype: Severe short stature (HP:0003510)
Associated disease: Metatropic dysplasia; Metatropic dwarfism (ORPHA:2635)
Gene: TRPV4
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)
Gene: TRPV4
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Scapuloperoneal amyotrophy (HP:0003697)
Associated disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
Gene: TRPV4
Phenotype: Distal amyotrophy (HP:0003693)
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: Distal amyotrophy (HP:0003693)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII (OMIM:600175)
Gene: TRPV4
Phenotype: Scapular winging (HP:0003691)
Associated disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
Gene: TRPV4
Phenotype: Nonprogressive (HP:0003680)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII (OMIM:600175)
Gene: TRPV4
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV4
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Coarse metaphyseal trabecularization (HP:0100670)
Associated disease: Metatropic dysplasia; Metatropic dwarfism (ORPHA:2635)
Gene: TRPV4
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Small hand (HP:0200055)
Associated disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
Gene: TRPV4
Phenotype: Distal upper limb amyotrophy (HP:0007149)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Short metatarsal (HP:0010743)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV4
Phenotype: Hypoplastic cervical vertebrae (HP:0008434)
Associated disease: Metatropic dysplasia; Metatropic dwarfism (ORPHA:2635)
Gene: TRPV4
Phenotype: Vertebral wedging (HP:0008422)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Neonatal onset (HP:0003623)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Amyoplasia (HP:0003634)
Associated disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
Gene: TRPV4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL (OMIM:606835)
Gene: TRPV4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)
Gene: TRPV4
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
Gene: TRPV4
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV4
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Metatropic dysplasia; Metatropic dwarfism (ORPHA:2635)
Gene: TRPV4
Phenotype: Osteoarthritis of the small joints of the hand (HP:0004268)
Associated disease: Familial digital arthropathy-brachydactyly (ORPHA:85169)
Gene: TRPV4
Phenotype: Short palm (HP:0004279)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE (OMIM:184095)
Gene: TRPV4
Phenotype: Abducens palsy (HP:0006897)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Abducens palsy (HP:0006897)
Associated disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
Gene: TRPV4
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV4
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV4
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV4
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Scapular muscle atrophy (HP:0009060)
Associated disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
Gene: TRPV4
Phenotype: Progressive distal muscle weakness (HP:0009063)
Associated disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
Gene: TRPV4
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII (OMIM:600175)
Gene: TRPV4
Phenotype: Peroneal muscle atrophy (HP:0009049)
Associated disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
Gene: TRPV4
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV4
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Short stature (HP:0004322)
Associated disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2 (OMIM:617383)
Gene: TRPV4
Phenotype: Short stature (HP:0004322)
Associated disease: Brachyolmia type 3; Autosomal dominant brachyolmia (ORPHA:93304)
Gene: TRPV4
Phenotype: Short stature (HP:0004322)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE (OMIM:184095)
Gene: TRPV4
Phenotype: Short stature (HP:0004322)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Cachexia (HP:0004326)
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: Premature osteoarthritis (HP:0003088)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Abnormality of the radioulnar joints (HP:0003059)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV4
Phenotype: Enlarged joints (HP:0003037)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Enlarged joints (HP:0003037)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)
Gene: TRPV4
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV4
Phenotype: Clavicular pseudarthrosis (HP:0034187)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Arthropathy (HP:0003040)
Associated disease: DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL (OMIM:606835)
Gene: TRPV4
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)
Gene: TRPV4
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Metatropic dysplasia; Metatropic dwarfism (ORPHA:2635)
Gene: TRPV4
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)
Gene: TRPV4
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE (OMIM:184095)
Gene: TRPV4
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Childhood onset (HP:0011463)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)
Gene: TRPV4
Phenotype: Young adult onset (HP:0011462)
Associated disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2 (OMIM:617383)
Gene: TRPV4
Phenotype: Young adult onset (HP:0011462)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Hand muscle atrophy (HP:0009130)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Narrow chest (HP:0000774)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Narrow chest (HP:0000774)
Associated disease: Metatropic dysplasia; Metatropic dwarfism (ORPHA:2635)
Gene: TRPV4
Phenotype: Short ribs (HP:0000773)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Diaphragmatic weakness (HP:0009113)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Diaphragmatic weakness (HP:0009113)
Associated disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
Gene: TRPV4
Phenotype: Limb joint contracture (HP:0003121)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Metatropic dysplasia; Metatropic dwarfism (ORPHA:2635)
Gene: TRPV4
Phenotype: Avascular necrosis of the capital femoral epiphysis (HP:0005743)
Associated disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2 (OMIM:617383)
Gene: TRPV4
Phenotype: Shield chest (HP:0000914)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE (OMIM:184095)
Gene: TRPV4
Phenotype: Shield chest (HP:0000914)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Abnormality of the vertebral column (HP:0000925)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: BRACHYOLMIA TYPE 3 (OMIM:113500)
Gene: TRPV4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)
Gene: TRPV4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2 (OMIM:617383)
Gene: TRPV4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Brachyolmia type 3; Autosomal dominant brachyolmia (ORPHA:93304)
Gene: TRPV4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE (OMIM:184095)
Gene: TRPV4
Phenotype: Squared iliac bones (HP:0003177)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Abnormal acetabulum morphology (HP:0003170)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Short greater sciatic notch (HP:0003185)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)
Gene: TRPV4
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Flaring of rib cage (HP:0000904)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Shortening of all distal phalanges of the toes (HP:0005793)
Associated disease: Familial digital arthropathy-brachydactyly (ORPHA:85169)
Gene: TRPV4
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV4
Phenotype: Cupped ribs (HP:0000887)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV4
Phenotype: Absent epiphyses of the phalanges of the hand (HP:0010228)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)
Gene: TRPV4
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII (OMIM:600175)
Gene: TRPV4
Phenotype: Cervical platyspondyly (HP:0004558)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Increased vertebral height (HP:0004570)
Associated disease: Brachyolmia type 3; Autosomal dominant brachyolmia (ORPHA:93304)
Gene: TRPV4
Phenotype: Brachytelomesophalangy (HP:0005872)
Associated disease: DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL (OMIM:606835)
Gene: TRPV4
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV4
Phenotype: Hip contracture (HP:0003273)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII (OMIM:600175)
Gene: TRPV4
Phenotype: Hip pain (HP:0030838)
Associated disease: Familial osteonecrosis of the femoral head; Familial avascular necrosis of femoral head (ORPHA:86820)
Gene: TRPV4
Phenotype: Stridor (HP:0010307)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Stridor (HP:0010307)
Associated disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
Gene: TRPV4
Phenotype: Short thorax (HP:0010306)
Associated disease: Brachyolmia type 3; Autosomal dominant brachyolmia (ORPHA:93304)
Gene: TRPV4
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Brachyolmia type 3; Autosomal dominant brachyolmia (ORPHA:93304)
Gene: TRPV4
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Metatropic dysplasia; Metatropic dwarfism (ORPHA:2635)
Gene: TRPV4
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL (OMIM:606835)
Gene: TRPV4
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: Familial digital arthropathy-brachydactyly (ORPHA:85169)
Gene: TRPV4
Phenotype: Generalized osteoporosis (HP:0040160)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE (OMIM:184095)
Gene: TRPV4
Phenotype: Short finger (HP:0009381)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Oculomotor nerve palsy (HP:0012246)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Abnormal intervertebral disk morphology (HP:0005108)
Associated disease: Metatropic dysplasia; Metatropic dwarfism (ORPHA:2635)
Gene: TRPV4
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE (OMIM:184095)
Gene: TRPV4
Phenotype: Coxa vara (HP:0002812)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)
Gene: TRPV4
Phenotype: Coxa vara (HP:0002812)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Dumbbell-shaped metaphyses (HP:0002810)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Caudal appendage (HP:0002825)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Halberd-shaped pelvis (HP:0002826)
Associated disease: Metatropic dysplasia; Metatropic dwarfism (ORPHA:2635)
Gene: TRPV4
Phenotype: Halberd-shaped pelvis (HP:0002826)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Halberd-shaped pelvis (HP:0002826)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)
Gene: TRPV4
Phenotype: Hyperplasia of the femoral trochanters (HP:0002822)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Clinodactyly (HP:0030084)
Associated disease: BRACHYOLMIA TYPE 3 (OMIM:113500)
Gene: TRPV4
Phenotype: Clinodactyly (HP:0030084)
Associated disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
Gene: TRPV4
Phenotype: Kyphosis (HP:0002808)
Associated disease: BRACHYOLMIA TYPE 3 (OMIM:113500)
Gene: TRPV4
Phenotype: Kyphosis (HP:0002808)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII (OMIM:600175)
Gene: TRPV4
Phenotype: Kyphosis (HP:0002808)
Associated disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
Gene: TRPV4
Phenotype: Kyphosis (HP:0002808)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Kyphosis (HP:0002808)
Associated disease: PARASTREMMATIC DWARFISM (OMIM:168400)
Gene: TRPV4
Phenotype: Kyphosis (HP:0002808)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Kyphosis (HP:0002808)
Associated disease: Metatropic dysplasia; Metatropic dwarfism (ORPHA:2635)
Gene: TRPV4
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII (OMIM:600175)
Gene: TRPV4
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII (OMIM:600175)
Gene: TRPV4
Phenotype: Dumbbell-shaped femur (HP:0006375)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Dumbbell-shaped femur (HP:0006375)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)
Gene: TRPV4
Phenotype: Irregular, rachitic-like metaphyses (HP:0005042)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)