TaoMedAI/RareMedData huggingface dataset:
Gene: MYH3
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYH3
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYH3
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYH3
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Dental crowding (HP:0000678)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYH3
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Short stature (HP:0004322)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: MYH3
Phenotype: Short stature (HP:0004322)
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: Short stature (HP:0004322)
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: Short stature (HP:0004322)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B3 (OMIM:618436)
Gene: MYH3
Phenotype: Short stature (HP:0004322)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: Abnormal auditory evoked potentials (HP:0006958)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
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: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYH3
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYH3
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Ulnar deviation of the wrist (HP:0003049)
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: Shoulder flexion contracture (HP:0003044)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Abnormality of movement (HP:0100022)
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: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Pectus excavatum (HP:0000767)
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: Abnormal sternum morphology (HP:0000766)
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: Pectus carinatum (HP:0000768)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Gene: MYH3
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Abnormal gastrointestinal tract morphology (HP:0012718)
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 of finger (HP:0012785)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Short nose (HP:0003196)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Cleft ala nasi (HP:0003191)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Rib fusion (HP:0000902)
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: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYH3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYH3
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYH3
Phenotype: Skeletal muscle atrophy (HP:0003202)
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 of toe (HP:0005830)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Elbow contracture (HP:0034391)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Spina bifida occulta (HP:0003298)
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: Hip contracture (HP:0003273)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: Hip contracture (HP:0003273)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Abnormal hip bone morphology (HP:0003272)
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: Abnormal hip bone morphology (HP:0003272)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: MYH3
Phenotype: Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318)
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: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
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: Epicanthus (HP:0000286)
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: Epicanthus (HP:0000286)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Mask-like facies (HP:0000298)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Narrow face (HP:0000275)
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: Long face (HP:0000276)
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: Malar flattening (HP:0000272)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Dolichocephaly (HP:0000268)
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: Arthralgia (HP:0002829)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
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: Knee flexion contracture (HP:0006380)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: Microcephaly (HP:0000252)
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: Microcephaly (HP:0000252)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: Microcephaly (HP:0000252)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: High palate (HP:0000218)
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: High palate (HP:0000218)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: High palate (HP:0000218)
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: Oligohydramnios (HP:0001562)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: MYH3
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: MYH3
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Prenatal movement abnormality (HP:0001557)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: MYH3
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYH3
Phenotype: Umbilical hernia (HP:0001537)
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: Pursed lips (HP:0000205)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Orofacial cleft (HP:0000202)
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: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYH3
Phenotype: Fused thoracic vertebrae (HP:0030039)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B (OMIM:618469)
Gene: MYH3
Phenotype: Failure to thrive (HP:0001508)
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: Failure to thrive (HP:0001508)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: MYH3
Phenotype: Small for gestational age (HP:0001518)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Intrauterine growth retardation (HP:0001511)
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: Growth delay (HP:0001510)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: MYH3
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
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: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYH3
Phenotype: Camptodactyly (HP:0012385)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B3 (OMIM:618436)
Gene: MYH3
Phenotype: Camptodactyly (HP:0012385)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: Camptodactyly (HP:0012385)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Flat face (HP:0012368)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Gene: MYH3
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Gene: MYH3
Phenotype: Fused cervical vertebrae (HP:0002949)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B (OMIM:618469)
Gene: MYH3
Phenotype: Intervertebral space narrowing (HP:0002945)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Gene: MYH3
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: MYH3
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Hearing impairment (HP:0000365)
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: Hearing impairment (HP:0000365)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Gene: MYH3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: MYH3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYH3
Phenotype: Hearing abnormality (HP:0000364)
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: Posteriorly rotated ears (HP:0000358)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: Low-set ears (HP:0000369)
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: Low-set ears (HP:0000369)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: Low-set ears (HP:0000369)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Long philtrum (HP:0000343)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Long philtrum (HP:0000343)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: MYH3
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Long philtrum (HP:0000343)
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: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYH3
Phenotype: Micrognathia (HP:0000347)
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: Micrognathia (HP:0000347)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Micrognathia (HP:0000347)
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: Whistling appearance (HP:0000346)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Hypertelorism (HP:0000316)
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: Hypertelorism (HP:0000316)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: MYH3
Phenotype: Abnormal aortic valve morphology (HP:0001646)
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 face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)