TaoMedAI/RareMedData huggingface dataset:
Gene: EZH2
Phenotype: Polyphagia (HP:0002591)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Spasticity (HP:0001257)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Spasticity (HP:0001257)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EZH2
Phenotype: Tall stature (HP:0000098)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Slurred speech (HP:0001350)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EZH2
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Flared humeral metaphysis (HP:0003911)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EZH2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Coxa valga (HP:0002673)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EZH2
Phenotype: Scoliosis (HP:0002650)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EZH2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EZH2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Short fourth metatarsal (HP:0004689)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Deep philtrum (HP:0002002)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EZH2
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Postural instability (HP:0002172)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Fine hair (HP:0002213)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Fine hair (HP:0002213)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EZH2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Dysharmonic skeletal maturation (HP:0200000)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Dimple chin (HP:0010751)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EZH2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EZH2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EZH2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EZH2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EZH2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EZH2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EZH2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Broad thumb (HP:0011304)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Broad thumb (HP:0011304)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Limited knee extension (HP:0003066)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EZH2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EZH2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Fetal onset (HP:0011461)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Short ribs (HP:0000773)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Inverted nipples (HP:0003186)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EZH2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EZH2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EZH2
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Abnormally low-pitched voice (HP:0010300)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Abnormally low-pitched voice (HP:0010300)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Cutis laxa (HP:0000973)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Sparse hair (HP:0008070)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Epicanthus (HP:0000286)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Retrognathia (HP:0000278)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Retrognathia (HP:0000278)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Clinodactyly (HP:0030084)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Kyphosis (HP:0002808)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Wide distal femoral metaphysis (HP:0006387)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Redundant skin (HP:0001582)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Overgrowth (HP:0001548)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EZH2
Phenotype: Diastasis recti (HP:0001540)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EZH2
Phenotype: Hypoplastic iliac wing (HP:0002866)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Flared femoral metaphysis (HP:0002834)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EZH2
Phenotype: Camptodactyly (HP:0012385)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Hoarse cry (HP:0001615)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EZH2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Long philtrum (HP:0000343)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Long philtrum (HP:0000343)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EZH2
Phenotype: Broad forehead (HP:0000337)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Round face (HP:0000311)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Round face (HP:0000311)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EZH2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Macrotia (HP:0000400)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Macrotia (HP:0000400)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Strabismus (HP:0000486)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Broad foot (HP:0001769)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Pes cavus (HP:0001761)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Pes cavus (HP:0001761)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Flat occiput (HP:0005469)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Calcaneovalgus deformity (HP:0001848)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Overlapping toe (HP:0001845)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Sandal gap (HP:0001852)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EZH2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Thin nail (HP:0001816)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Thin nail (HP:0001816)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Deep-set nails (HP:0001814)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Deep-set nails (HP:0001814)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: F2
Phenotype: Stroke (HP:0001297)
Associated disease: STROKE, ISCHEMIC (OMIM:601367)
Gene: F2
Phenotype: Variable expressivity (HP:0003828)
Associated disease: PROTHROMBIN DEFICIENCY, CONGENITAL (OMIM:613679)
Gene: F2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PROTHROMBIN DEFICIENCY, CONGENITAL (OMIM:613679)
Gene: F2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THROMBOPHILIA DUE TO THROMBIN DEFECT (OMIM:188050)
Gene: F2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2 (OMIM:614390)
Gene: F2
Phenotype: Deep venous thrombosis (HP:0002625)
Associated disease: THROMBOPHILIA DUE TO THROMBIN DEFECT (OMIM:188050)