TaoMedAI/RareMedData huggingface dataset:
Gene: ANKH
Phenotype: Dental crowding (HP:0000678)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Tooth malposition (HP:0000692)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Increased inflammatory response (HP:0012649)
Associated disease: Hereditary articular chondrocalcinosis; Hereditary CC; Familial calcium pyrophosphate deposition; Familial articular chondrocalcinosis; Familial CC; Hereditary calcium pyrophosphate deposition; Calcium pyrophosphate dihydrate crystal deposition disease; Familial CPPD (ORPHA:1416)
Gene: ANKH
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKH
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Short stature (HP:0004322)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Intervertebral disk calcification (HP:0005645)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKH
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKH
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Arthropathy (HP:0003040)
Associated disease: CHONDROCALCINOSIS 2 (OMIM:118600)
Gene: ANKH
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Hereditary articular chondrocalcinosis; Hereditary CC; Familial calcium pyrophosphate deposition; Familial articular chondrocalcinosis; Familial CC; Hereditary calcium pyrophosphate deposition; Calcium pyrophosphate dihydrate crystal deposition disease; Familial CPPD (ORPHA:1416)
Gene: ANKH
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Childhood onset (HP:0011463)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Cranial hyperostosis (HP:0004437)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Bony paranasal bossing (HP:0004407)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Abnormality of the vertebral column (HP:0000925)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Craniofacial hyperostosis (HP:0004493)
Associated disease: Craniometaphyseal dysplasia (ORPHA:1522)
Gene: ANKH
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKH
Phenotype: Secondary hyperparathyroidism (HP:0000867)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKH
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKH
Phenotype: Decreased body mass index (HP:0045082)
Associated disease: Hereditary articular chondrocalcinosis; Hereditary CC; Familial calcium pyrophosphate deposition; Familial articular chondrocalcinosis; Familial CC; Hereditary calcium pyrophosphate deposition; Calcium pyrophosphate dihydrate crystal deposition disease; Familial CPPD (ORPHA:1416)
Gene: ANKH
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Chondrocalcinosis (HP:0000934)
Associated disease: Hereditary articular chondrocalcinosis; Hereditary CC; Familial calcium pyrophosphate deposition; Familial articular chondrocalcinosis; Familial CC; Hereditary calcium pyrophosphate deposition; Calcium pyrophosphate dihydrate crystal deposition disease; Familial CPPD (ORPHA:1416)
Gene: ANKH
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Craniometaphyseal dysplasia (ORPHA:1522)
Gene: ANKH
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Macrocephaly (HP:0000256)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Long face (HP:0000276)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Abnormal intervertebral disk morphology (HP:0005108)
Associated disease: Hereditary articular chondrocalcinosis; Hereditary CC; Familial calcium pyrophosphate deposition; Familial articular chondrocalcinosis; Familial CC; Hereditary calcium pyrophosphate deposition; Calcium pyrophosphate dihydrate crystal deposition disease; Familial CPPD (ORPHA:1416)
Gene: ANKH
Phenotype: Arthralgia (HP:0002829)
Associated disease: Hereditary articular chondrocalcinosis; Hereditary CC; Familial calcium pyrophosphate deposition; Familial articular chondrocalcinosis; Familial CC; Hereditary calcium pyrophosphate deposition; Calcium pyrophosphate dihydrate crystal deposition disease; Familial CPPD (ORPHA:1416)
Gene: ANKH
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Club-shaped distal femur (HP:0006384)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKH
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKH
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKH
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Prominence of the zygomatic bone (HP:0012370)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Increased circulating osteocalcin level (HP:0031428)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKH
Phenotype: Tinnitus (HP:0000360)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Low-set ears (HP:0000369)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Osteopetrosis (HP:0011002)
Associated disease: Craniometaphyseal dysplasia (ORPHA:1522)
Gene: ANKH
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKH
Phenotype: Broad forehead (HP:0000337)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Craniometaphyseal dysplasia (ORPHA:1522)
Gene: ANKH
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKH
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Craniometaphyseal dysplasia (ORPHA:1522)
Gene: ANKH
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Craniometaphyseal dysplasia (ORPHA:1522)
Gene: ANKH
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Craniometaphyseal dysplasia (ORPHA:1522)
Gene: ANKH
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Choanal stenosis (HP:0000452)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Nasal congestion (HP:0001742)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Craniometaphyseal dysplasia (ORPHA:1522)
Gene: ANKH
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Calvarial osteosclerosis (HP:0005450)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKH
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Telecanthus (HP:0000506)
Associated disease: Craniometaphyseal dysplasia (ORPHA:1522)
Gene: ANKH
Phenotype: Telecanthus (HP:0000506)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Visual impairment (HP:0000505)
Associated disease: Craniometaphyseal dysplasia (ORPHA:1522)
Gene: ANKH
Phenotype: Exotropia (HP:0000577)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Epiblepharon (HP:0011225)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Gene: ANKH
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKH
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMOD3
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: LMOD3
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: NEMALINE MYOPATHY 10 (OMIM:616165)
Gene: LMOD3
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: LMOD3
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NEMALINE MYOPATHY 10 (OMIM:616165)
Gene: LMOD3
Phenotype: Motor delay (HP:0001270)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: LMOD3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: NEMALINE MYOPATHY 10 (OMIM:616165)
Gene: LMOD3
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Waddling gait (HP:0002515)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: LMOD3
Phenotype: Neonatal death (HP:0003811)
Associated disease: NEMALINE MYOPATHY 10 (OMIM:616165)
Gene: LMOD3
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: LMOD3
Phenotype: Flexion contracture (HP:0001371)
Associated disease: NEMALINE MYOPATHY 10 (OMIM:616165)
Gene: LMOD3
Phenotype: Micropenis (HP:0000054)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: LMOD3
Phenotype: Hypospadias (HP:0000047)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: LMOD3
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: LMOD3
Phenotype: Edema of the dorsum of hands (HP:0007514)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: LMOD3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: NEMALINE MYOPATHY 10 (OMIM:616165)
Gene: LMOD3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEMALINE MYOPATHY 10 (OMIM:616165)
Gene: LMOD3
Phenotype: Scoliosis (HP:0002650)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: NEMALINE MYOPATHY 10 (OMIM:616165)
Gene: LMOD3
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: LMOD3
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Dysphagia (HP:0002015)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: LMOD3
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: NEMALINE MYOPATHY 10 (OMIM:616165)
Gene: LMOD3
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: LMOD3
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEMALINE MYOPATHY 10 (OMIM:616165)
Gene: LMOD3
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEMALINE MYOPATHY 10 (OMIM:616165)
Gene: LMOD3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Facial palsy (HP:0010628)
Associated disease: NEMALINE MYOPATHY 10 (OMIM:616165)
Gene: LMOD3
Phenotype: Facial palsy (HP:0010628)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Facial palsy (HP:0010628)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: LMOD3
Phenotype: Hypokinesia (HP:0002375)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Hypokinesia (HP:0002375)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: LMOD3
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: NEMALINE MYOPATHY 10 (OMIM:616165)
Gene: LMOD3
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: LMOD3
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: NEMALINE MYOPATHY 10 (OMIM:616165)
Gene: LMOD3
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: LMOD3
Phenotype: Increased connective tissue (HP:0009025)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: LMOD3
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: LMOD3
Phenotype: Narrow chest (HP:0000774)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Abnormality of the diaphragm (HP:0000775)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: LMOD3
Phenotype: Myopathy (HP:0003198)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Thin ribs (HP:0000883)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: LMOD3
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: NEMALINE MYOPATHY 10 (OMIM:616165)
Gene: LMOD3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: LMOD3
Phenotype: Multiple prenatal fractures (HP:0005855)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: LMOD3
Phenotype: Narrow face (HP:0000275)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Kyphosis (HP:0002808)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Congenital contracture (HP:0002803)
Associated disease: NEMALINE MYOPATHY 10 (OMIM:616165)
Gene: LMOD3
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: LMOD3
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: LMOD3
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: LMOD3
Phenotype: High palate (HP:0000218)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Nocturnal hypoventilation (HP:0002877)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: LMOD3
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: NEMALINE MYOPATHY 10 (OMIM:616165)
Gene: LMOD3
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: LMOD3
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: NEMALINE MYOPATHY 10 (OMIM:616165)
Gene: LMOD3
Phenotype: Genu valgum (HP:0002857)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Death in infancy (HP:0001522)
Associated disease: NEMALINE MYOPATHY 10 (OMIM:616165)
Gene: LMOD3
Phenotype: Fatiguable weakness of proximal limb muscles (HP:0030200)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Fatigable weakness of distal limb muscles (HP:0030198)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Low-set ears (HP:0000369)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: LMOD3
Phenotype: Micrognathia (HP:0000347)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Breech presentation (HP:0001623)
Associated disease: NEMALINE MYOPATHY 10 (OMIM:616165)
Gene: LMOD3
Phenotype: Breech presentation (HP:0001623)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)