TaoMedAI/RareMedData huggingface dataset:
Gene: ACP5
Phenotype: Tubulointerstitial fibrosis (HP:0005576)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACP5
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACP5
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACP5
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACP5
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Short stature (HP:0004322)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Short stature (HP:0004322)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACP5
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACP5
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Juvenile rheumatoid arthritis (HP:0005681)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Juvenile rheumatoid arthritis (HP:0005681)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Hematuria (HP:0000790)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACP5
Phenotype: Hypertension (HP:0000822)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACP5
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACP5
Phenotype: Metaphyseal dysplasia (HP:0100255)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Metaphyseal dysplasia (HP:0100255)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Purpura (HP:0000979)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Skin rash (HP:0000988)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Turricephaly (HP:0000262)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Kyphosis (HP:0002808)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACP5
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACP5
Phenotype: Enchondroma (HP:0030038)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Abnormal lateral ventricle morphology (HP:0030047)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACP5
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACP5
Phenotype: Low-set ears (HP:0000369)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACP5
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Autoimmunity (HP:0002960)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Autoimmunity (HP:0002960)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Immune dysregulation (HP:0002958)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACP5
Phenotype: Increased intervertebral space (HP:0030320)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Cellular immunodeficiency (HP:0005374)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Combined immunodeficiency (HP:0005387)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Narrow nose (HP:0000460)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACP5
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACP5
Phenotype: Lower limb pain (HP:0012514)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Pancytopenia (HP:0001876)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACTA1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: ACTA1
Phenotype: Bulbar signs (HP:0002483)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Zebra body myopathy (ORPHA:97240)
Gene: ACTA1
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: Zebra body myopathy (ORPHA:97240)
Gene: ACTA1
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: CONGENITAL MYOPATHY 2B, SEVERE INFANTILE, AUTOSOMAL RECESSIVE (OMIM:620265)
Gene: ACTA1
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: ACTA1
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: ACTA1
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: MYOPATHY, SCAPULOHUMEROPERONEAL (OMIM:616852)
Gene: ACTA1
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Poor head control (HP:0002421)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: ACTA1
Phenotype: Poor head control (HP:0002421)
Associated disease: CONGENITAL MYOPATHY 2B, SEVERE INFANTILE, AUTOSOMAL RECESSIVE (OMIM:620265)
Gene: ACTA1
Phenotype: Poor head control (HP:0002421)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Pelvic girdle muscle weakness (HP:0003749)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: MYOPATHY, SCAPULOHUMEROPERONEAL (OMIM:616852)
Gene: ACTA1
Phenotype: Autophagic vacuoles (HP:0003736)
Associated disease: Zebra body myopathy (ORPHA:97240)
Gene: ACTA1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Zebra body myopathy (ORPHA:97240)
Gene: ACTA1
Phenotype: Myofibrillar myopathy (HP:0003715)
Associated disease: Zebra body myopathy (ORPHA:97240)
Gene: ACTA1
Phenotype: Muscle fiber necrosis (HP:0003713)
Associated disease: Zebra body myopathy (ORPHA:97240)
Gene: ACTA1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: ACTA1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CONGENITAL MYOPATHY 2B, SEVERE INFANTILE, AUTOSOMAL RECESSIVE (OMIM:620265)
Gene: ACTA1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Hypertonia (HP:0001276)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Motor delay (HP:0001270)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Motor delay (HP:0001270)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: ACTA1
Phenotype: Motor delay (HP:0001270)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: ACTA1
Phenotype: Motor delay (HP:0001270)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Motor delay (HP:0001270)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Motor delay (HP:0001270)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: ACTA1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Areflexia (HP:0001284)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: ACTA1
Phenotype: Areflexia (HP:0001284)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Areflexia (HP:0001284)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Areflexia (HP:0001284)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Areflexia (HP:0001284)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Areflexia (HP:0001284)
Associated disease: MYOPATHY, SCAPULOHUMEROPERONEAL (OMIM:616852)
Gene: ACTA1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL MYOPATHY 2B, SEVERE INFANTILE, AUTOSOMAL RECESSIVE (OMIM:620265)
Gene: ACTA1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: ACTA1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: ACTA1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MYOPATHY, SCAPULOHUMEROPERONEAL (OMIM:616852)
Gene: ACTA1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Zebra body myopathy (ORPHA:97240)
Gene: ACTA1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: ACTA1
Phenotype: Waddling gait (HP:0002515)
Associated disease: Zebra body myopathy (ORPHA:97240)
Gene: ACTA1
Phenotype: Waddling gait (HP:0002515)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: ACTA1
Phenotype: Waddling gait (HP:0002515)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Waddling gait (HP:0002515)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Waddling gait (HP:0002515)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: Zebra body myopathy (ORPHA:97240)
Gene: ACTA1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: ACTA1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: ACTA1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Death in childhood (HP:0003819)
Associated disease: CONGENITAL MYOPATHY 2B, SEVERE INFANTILE, AUTOSOMAL RECESSIVE (OMIM:620265)
Gene: ACTA1
Phenotype: Death in childhood (HP:0003819)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Neonatal death (HP:0003811)
Associated disease: CONGENITAL MYOPATHY 2B, SEVERE INFANTILE, AUTOSOMAL RECESSIVE (OMIM:620265)