TaoMedAI/RareMedData huggingface dataset:
Gene: MYH3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Motor delay (HP:0001270)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Round ear (HP:0100830)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: MYH3
Phenotype: Seizure (HP:0001250)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Absent phalangeal crease (HP:0006109)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B (OMIM:618469)
Gene: MYH3
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Absence of labia majora (HP:0008729)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Delayed ossification of carpal bones (HP:0001216)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Gene: MYH3
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYH3
Phenotype: Small scrotum (HP:0000046)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Flexion contracture (HP:0001371)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B (OMIM:618469)
Gene: MYH3
Phenotype: Joint dislocation (HP:0001373)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Chordee (HP:0000041)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: MYH3
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: MYH3
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: MYH3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Hypospadias (HP:0000047)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYH3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: MYH3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: MYH3
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYH3
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B (OMIM:618469)
Gene: MYH3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYH3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B3 (OMIM:618436)
Gene: MYH3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Scoliosis (HP:0002650)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B3 (OMIM:618436)
Gene: MYH3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B (OMIM:618469)
Gene: MYH3
Phenotype: Scoliosis (HP:0002650)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Scoliosis (HP:0002650)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Gene: MYH3
Phenotype: Scoliosis (HP:0002650)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: MYH3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYH3
Phenotype: Scoliosis (HP:0002650)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: MYH3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYH3
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: MYH3
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: MYH3
Phenotype: Narrow mouth (HP:0000160)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B3 (OMIM:618436)
Gene: MYH3
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: MYH3
Phenotype: Narrow mouth (HP:0000160)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Abnormality of the tongue (HP:0000157)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Cleft palate (HP:0000175)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: Cleft palate (HP:0000175)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B (OMIM:618469)
Gene: MYH3
Phenotype: Cleft palate (HP:0000175)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Gene: MYH3
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Cleft palate (HP:0000175)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Gene: MYH3
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: MYH3
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Gene: MYH3
Phenotype: Neck joint contracture (HP:0005997)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Gene: MYH3
Phenotype: Spondylolisthesis (HP:0003302)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: MYH3
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYH3
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: MYH3
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: MYH3
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: MYH3
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Long nasal bridge (HP:0033142)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: Absent palmar crease (HP:0010489)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: MYH3
Phenotype: Ulnar deviation of the hand (HP:0009487)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B3 (OMIM:618436)
Gene: MYH3
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: MYH3
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Disproportionate short stature (HP:0003498)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Gene: MYH3
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: MYH3
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: MYH3
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: MYH3
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Cutaneous finger syndactyly (HP:0010554)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: MYH3
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: MYH3
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B3 (OMIM:618436)
Gene: MYH3
Phenotype: Abnormal skeletal morphology (HP:0011842)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Chin with H-shaped crease (HP:0011824)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Infantile onset (HP:0003593)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: Congenital onset (HP:0003577)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Hernia (HP:0100790)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: MYH3
Phenotype: Hernia (HP:0100790)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Carpal synostosis (HP:0009702)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: Carpal synostosis (HP:0009702)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Gene: MYH3
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: MYH3
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B (OMIM:618469)
Gene: MYH3
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Gene: MYH3
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Axillary pterygium (HP:0001060)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Pterygium (HP:0001059)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Multiple pterygia (HP:0001040)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: Multiple pterygia (HP:0001040)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYH3
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Dimple chin (HP:0010751)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: MYH3
Phenotype: Dimple chin (HP:0010751)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Symphalangism affecting the phalanges of the hand (HP:0009773)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Cervical spinal canal stenosis (HP:0008445)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: Antecubital pterygium (HP:0009760)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: Antecubital pterygium (HP:0009760)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B (OMIM:618469)
Gene: MYH3
Phenotype: Antecubital pterygium (HP:0009760)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYH3
Phenotype: Popliteal pterygium (HP:0009756)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: Popliteal pterygium (HP:0009756)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYH3
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)