TaoMedAI/RareMedData huggingface dataset:
Gene: VIPAS39
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Gene: VIPAS39
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VIPAS39
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Gene: VIPAS39
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VIPAS39
Phenotype: Low-set ears (HP:0000369)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Gene: VIPAS39
Phenotype: Low-set ears (HP:0000369)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VIPAS39
Phenotype: Sloping forehead (HP:0000340)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Gene: VIPAS39
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Gene: VIPAS39
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Gene: VIPAS39
Phenotype: Abnormal alpha granules (HP:0012483)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VIPAS39
Phenotype: Abnormal platelet aggregation (HP:0030402)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VIPAS39
Phenotype: Talipes calcaneovalgus (HP:0001884)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Gene: PIEZO2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Arachnodactyly (HP:0001166)
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: Arachnodactyly (HP:0001166)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Primitive reflex (HP:0002476)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Keratoglobus (HP:0001119)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Abnormality of the upper urinary tract (HP:0010935)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Ulnar deviation of the hand or of fingers of the hand (HP:0001193)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Duane anomaly (HP:0009921)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Sensory ataxia (HP:0010871)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Microtia (HP:0008551)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Poor head control (HP:0002421)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: Firm muscles (HP:0003725)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Hypertonia (HP:0001276)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Motor delay (HP:0001270)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: Areflexia (HP:0001284)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Seizure (HP:0001250)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Hypotonia (HP:0001252)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Dysarthria (HP:0001260)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: Absent phalangeal crease (HP:0006109)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Gordon syndrome; Camptodactyly-cleft palate-clubfoot syndrome; Distal arthrogryposis type IIA; Distal arthrogryposis type 3 (ORPHA:376)
Gene: PIEZO2
Phenotype: Short femoral neck (HP:0100864)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Multiple carpal ossification centers (HP:0006067)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Multiple carpal ossification centers (HP:0006067)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Inability to walk (HP:0002540)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Tapered humerus (HP:0003883)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Spatulate thumbs (HP:0001222)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Waddling gait (HP:0002515)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Shoulder dislocation (HP:0003834)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Reduced forced expiratory volume in one second (HP:0032342)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Hydroureter (HP:0000072)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Gordon syndrome; Camptodactyly-cleft palate-clubfoot syndrome; Distal arthrogryposis type IIA; Distal arthrogryposis type 3 (ORPHA:376)
Gene: PIEZO2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: Joint dislocation (HP:0001373)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Abnormal penis morphology (HP:0000036)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Epispadias (HP:0000039)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Micropenis (HP:0000054)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: Joint stiffness (HP:0001387)
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: Joint stiffness (HP:0001387)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Hypospadias (HP:0000047)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Hypospadias (HP:0000047)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Inguinal hernia (HP:0000023)
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: Inguinal hernia (HP:0000023)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Gordon syndrome; Camptodactyly-cleft palate-clubfoot syndrome; Distal arthrogryposis type IIA; Distal arthrogryposis type 3 (ORPHA:376)
Gene: PIEZO2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: Decreased palmar creases (HP:0006184)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Dislocated wrist (HP:0003994)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Spondyloepiphyseal dysplasia (HP:0002655)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Gordon syndrome; Camptodactyly-cleft palate-clubfoot syndrome; Distal arthrogryposis type IIA; Distal arthrogryposis type 3 (ORPHA:376)
Gene: PIEZO2
Phenotype: Scoliosis (HP:0002650)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Scoliosis (HP:0002650)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Scoliosis (HP:0002650)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: Scoliosis (HP:0002650)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Scoliosis (HP:0002650)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: Rhizomelia (HP:0008905)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Cleft palate (HP:0000175)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Gordon syndrome; Camptodactyly-cleft palate-clubfoot syndrome; Distal arthrogryposis type IIA; Distal arthrogryposis type 3 (ORPHA:376)
Gene: PIEZO2
Phenotype: Cleft palate (HP:0000175)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Cleft palate (HP:0000175)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Recurrent patellar dislocation (HP:0005001)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: High, narrow palate (HP:0002705)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Limited wrist extension (HP:0006251)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Bronchomalacia (HP:0002780)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Aplasia/Hypoplasia involving the skeletal musculature (HP:0001460)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: Decreased facial expression (HP:0004673)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Spondylolysis (HP:0003304)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: Zollinger-Ellison syndrome (HP:0002044)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Myopathic facies (HP:0002058)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: Tricuspid stenosis (HP:0010446)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Bipartite calcaneus (HP:0008127)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Absent palmar crease (HP:0010489)
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: Joint contracture of the hand (HP:0009473)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: Broad-based gait (HP:0002136)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Gordon syndrome; Camptodactyly-cleft palate-clubfoot syndrome; Distal arthrogryposis type IIA; Distal arthrogryposis type 3 (ORPHA:376)
Gene: PIEZO2
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Cutaneous finger syndactyly (HP:0010554)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Small epiphyses (HP:0010585)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Congenital onset (HP:0003577)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Congenital onset (HP:0003577)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Congenital onset (HP:0003577)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Marden-Walker syndrome (ORPHA:2461)