TaoMedAI/RareMedData huggingface dataset:
Gene: PIEZO2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Severe short stature (HP:0003510)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Inferior cerebellar vermis hypoplasia (HP:0007068)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Progressive (HP:0003676)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Abnormal cerebellar vermis morphology (HP:0002334)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Narrow vertebral interpedicular distance (HP:0008450)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Dimple chin (HP:0010751)
Associated disease: Distal arthrogryposis type IIB; Distal arthrogryposis type 5; Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome; Oculomelic amyoplasia; Distal arthrogryposis with ophthalmoplegia (ORPHA:1154)
Gene: PIEZO2
Phenotype: Short metatarsal (HP:0010743)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Hypoplastic cervical vertebrae (HP:0008434)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Gordon syndrome; Camptodactyly-cleft palate-clubfoot syndrome; Distal arthrogryposis type IIA; Distal arthrogryposis type 3 (ORPHA:376)
Gene: PIEZO2
Phenotype: Accessory carpal bones (HP:0004232)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Distal arthrogryposis type IIB; Distal arthrogryposis type 5; Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome; Oculomelic amyoplasia; Distal arthrogryposis with ophthalmoplegia (ORPHA:1154)
Gene: PIEZO2
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Distal arthrogryposis type IIB; Distal arthrogryposis type 5; Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome; Oculomelic amyoplasia; Distal arthrogryposis with ophthalmoplegia (ORPHA:1154)
Gene: PIEZO2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Microdontia (HP:0000691)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Hypodontia (HP:0000668)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Short stature (HP:0004322)
Associated disease: Gordon syndrome; Camptodactyly-cleft palate-clubfoot syndrome; Distal arthrogryposis type IIA; Distal arthrogryposis type 3 (ORPHA:376)
Gene: PIEZO2
Phenotype: Short stature (HP:0004322)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Short stature (HP:0004322)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Short stature (HP:0004322)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Short stature (HP:0004322)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: Short stature (HP:0004322)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Abnormal anatomic location of the heart (HP:0004307)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Flattened epiphysis (HP:0003071)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Arthropathy (HP:0003040)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Gordon syndrome; Camptodactyly-cleft palate-clubfoot syndrome; Distal arthrogryposis type IIA; Distal arthrogryposis type 3 (ORPHA:376)
Gene: PIEZO2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Distal arthrogryposis type IIB; Distal arthrogryposis type 5; Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome; Oculomelic amyoplasia; Distal arthrogryposis with ophthalmoplegia (ORPHA:1154)
Gene: PIEZO2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Deviation of the 5th finger (HP:0009179)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: Gordon syndrome; Camptodactyly-cleft palate-clubfoot syndrome; Distal arthrogryposis type IIA; Distal arthrogryposis type 3 (ORPHA:376)
Gene: PIEZO2
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Shield chest (HP:0000914)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Long nose (HP:0003189)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: Decreased hip abduction (HP:0003184)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Decreased hip abduction (HP:0003184)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Limited hip extension (HP:0003093)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Congenital finger flexion contractures (HP:0005879)
Associated disease: Distal arthrogryposis type IIB; Distal arthrogryposis type 5; Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome; Oculomelic amyoplasia; Distal arthrogryposis with ophthalmoplegia (ORPHA:1154)
Gene: PIEZO2
Phenotype: Congenital finger flexion contractures (HP:0005879)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Retinal fold (HP:0008052)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Diminished sulfotransferase activity in cultured fibroblasts (HP:6000970)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Epicanthus (HP:0000286)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Epicanthus (HP:0000286)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Epicanthus (HP:0000286)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Retrognathia (HP:0000278)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Mask-like facies (HP:0000298)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Malar flattening (HP:0000272)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Fixed elbow flexion (HP:0006471)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Generalized bone demineralization (HP:0006462)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Arthralgia (HP:0002829)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Clinodactyly (HP:0030084)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Kyphosis (HP:0002808)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Kyphosis (HP:0002808)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Kyphosis (HP:0002808)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Kyphosis (HP:0002808)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Congenital contracture (HP:0002803)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Microcephaly (HP:0000252)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: High palate (HP:0000218)
Associated disease: Gordon syndrome; Camptodactyly-cleft palate-clubfoot syndrome; Distal arthrogryposis type IIA; Distal arthrogryposis type 3 (ORPHA:376)
Gene: PIEZO2
Phenotype: High palate (HP:0000218)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: High palate (HP:0000218)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: High palate (HP:0000218)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: High palate (HP:0000218)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: High palate (HP:0000218)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Genu valgum (HP:0002857)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Growth delay (HP:0001510)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Camptodactyly (HP:0012385)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Camptodactyly (HP:0012385)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: Flat face (HP:0012368)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Cervical kyphosis (HP:0002947)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Thoracolumbar scoliosis (HP:0002944)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Intervertebral space narrowing (HP:0002945)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Gordon syndrome; Camptodactyly-cleft palate-clubfoot syndrome; Distal arthrogryposis type IIA; Distal arthrogryposis type 3 (ORPHA:376)
Gene: PIEZO2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Low-set ears (HP:0000369)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Low-set ears (HP:0000369)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Long philtrum (HP:0000343)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Long philtrum (HP:0000343)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Broad forehead (HP:0000337)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Micrognathia (HP:0000347)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Micrognathia (HP:0000347)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Tibial bowing (HP:0002982)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Dextrocardia (HP:0001651)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Dextrocardia (HP:0001651)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Triangular face (HP:0000325)
Associated disease: Distal arthrogryposis type IIB; Distal arthrogryposis type 5; Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome; Oculomelic amyoplasia; Distal arthrogryposis with ophthalmoplegia (ORPHA:1154)
Gene: PIEZO2
Phenotype: Triangular face (HP:0000325)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Gordon syndrome; Camptodactyly-cleft palate-clubfoot syndrome; Distal arthrogryposis type IIA; Distal arthrogryposis type 3 (ORPHA:376)
Gene: PIEZO2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Breech presentation (HP:0001623)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Corneal opacity (HP:0007957)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Fixed facial expression (HP:0005329)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Macrotia (HP:0000400)
Associated disease: Distal arthrogryposis type IIB; Distal arthrogryposis type 5; Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome; Oculomelic amyoplasia; Distal arthrogryposis with ophthalmoplegia (ORPHA:1154)
Gene: PIEZO2
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Astigmatism (HP:0000483)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Strabismus (HP:0000486)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Strabismus (HP:0000486)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Distal arthrogryposis type IIB; Distal arthrogryposis type 5; Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome; Oculomelic amyoplasia; Distal arthrogryposis with ophthalmoplegia (ORPHA:1154)