TaoMedAI/RareMedData huggingface dataset:
Gene: ARID1A
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Strabismus (HP:0000486)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Strabismus (HP:0000486)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Small nail (HP:0001792)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Small nail (HP:0001792)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Anteverted nares (HP:0000463)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Wide nose (HP:0000445)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Long eyelashes (HP:0000527)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Sandal gap (HP:0001852)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Ptosis (HP:0000508)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Ptosis (HP:0000508)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Visual impairment (HP:0000505)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Visual impairment (HP:0000505)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Prominent eyelashes (HP:0011231)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Oral aversion (HP:0012523)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Myopia (HP:0000545)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DYSF
Phenotype: Deposits immunoreactive to beta-amyloid protein (HP:0003791)
Associated disease: MIYOSHI MUSCULAR DYSTROPHY 1 (OMIM:254130)
Gene: DYSF
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: MIYOSHI MUSCULAR DYSTROPHY 1 (OMIM:254130)
Gene: DYSF
Phenotype: Pelvic girdle muscle weakness (HP:0003749)
Associated disease: Miyoshi myopathy (ORPHA:45448)
Gene: DYSF
Phenotype: Quadriceps muscle weakness (HP:0003731)
Associated disease: Miyoshi myopathy (ORPHA:45448)
Gene: DYSF
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: LGMD2B; LGMD type 2B; Dysferlin-related limb-girdle muscular dystrophy R2; Limb-girdle muscular dystrophy type 2B; LGMD due to dysferlin deficiency; Dysferlin-related LGMD R2; Autosomal recessive limb-girdle muscular dystrophy type 2B; Limb-girdle muscular dystrophy due to dysferlin deficiency (ORPHA:268)
Gene: DYSF
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: Distal myopathy with anterior tibial onset; Distal anterior compartment myopathy (ORPHA:178400)
Gene: DYSF
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: Miyoshi myopathy (ORPHA:45448)
Gene: DYSF
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2 (OMIM:253601)
Gene: DYSF
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET (OMIM:606768)
Gene: DYSF
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Miyoshi myopathy (ORPHA:45448)
Gene: DYSF
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: MIYOSHI MUSCULAR DYSTROPHY 1 (OMIM:254130)
Gene: DYSF
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: LGMD2B; LGMD type 2B; Dysferlin-related limb-girdle muscular dystrophy R2; Limb-girdle muscular dystrophy type 2B; LGMD due to dysferlin deficiency; Dysferlin-related LGMD R2; Autosomal recessive limb-girdle muscular dystrophy type 2B; Limb-girdle muscular dystrophy due to dysferlin deficiency (ORPHA:268)
Gene: DYSF
Phenotype: Inability to walk (HP:0002540)
Associated disease: LGMD2B; LGMD type 2B; Dysferlin-related limb-girdle muscular dystrophy R2; Limb-girdle muscular dystrophy type 2B; LGMD due to dysferlin deficiency; Dysferlin-related LGMD R2; Autosomal recessive limb-girdle muscular dystrophy type 2B; Limb-girdle muscular dystrophy due to dysferlin deficiency (ORPHA:268)
Gene: DYSF
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2 (OMIM:253601)
Gene: DYSF
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET (OMIM:606768)
Gene: DYSF
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: Miyoshi myopathy (ORPHA:45448)
Gene: DYSF
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: Distal myopathy with anterior tibial onset; Distal anterior compartment myopathy (ORPHA:178400)
Gene: DYSF
Phenotype: Limited hip movement (HP:0008800)
Associated disease: LGMD2B; LGMD type 2B; Dysferlin-related limb-girdle muscular dystrophy R2; Limb-girdle muscular dystrophy type 2B; LGMD due to dysferlin deficiency; Dysferlin-related LGMD R2; Autosomal recessive limb-girdle muscular dystrophy type 2B; Limb-girdle muscular dystrophy due to dysferlin deficiency (ORPHA:268)
Gene: DYSF
Phenotype: Finger flexor weakness (HP:0031177)
Associated disease: Distal myopathy with anterior tibial onset; Distal anterior compartment myopathy (ORPHA:178400)
Gene: DYSF
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2 (OMIM:253601)
Gene: DYSF
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET (OMIM:606768)
Gene: DYSF
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MIYOSHI MUSCULAR DYSTROPHY 1 (OMIM:254130)
Gene: DYSF
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: LGMD2B; LGMD type 2B; Dysferlin-related limb-girdle muscular dystrophy R2; Limb-girdle muscular dystrophy type 2B; LGMD due to dysferlin deficiency; Dysferlin-related LGMD R2; Autosomal recessive limb-girdle muscular dystrophy type 2B; Limb-girdle muscular dystrophy due to dysferlin deficiency (ORPHA:268)
Gene: DYSF
Phenotype: Triceps weakness (HP:0031108)
Associated disease: Miyoshi myopathy (ORPHA:45448)
Gene: DYSF
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: LGMD2B; LGMD type 2B; Dysferlin-related limb-girdle muscular dystrophy R2; Limb-girdle muscular dystrophy type 2B; LGMD due to dysferlin deficiency; Dysferlin-related LGMD R2; Autosomal recessive limb-girdle muscular dystrophy type 2B; Limb-girdle muscular dystrophy due to dysferlin deficiency (ORPHA:268)
Gene: DYSF
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: Miyoshi myopathy (ORPHA:45448)
Gene: DYSF
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: LGMD2B; LGMD type 2B; Dysferlin-related limb-girdle muscular dystrophy R2; Limb-girdle muscular dystrophy type 2B; LGMD due to dysferlin deficiency; Dysferlin-related LGMD R2; Autosomal recessive limb-girdle muscular dystrophy type 2B; Limb-girdle muscular dystrophy due to dysferlin deficiency (ORPHA:268)
Gene: DYSF
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: LGMD2B; LGMD type 2B; Dysferlin-related limb-girdle muscular dystrophy R2; Limb-girdle muscular dystrophy type 2B; LGMD due to dysferlin deficiency; Dysferlin-related LGMD R2; Autosomal recessive limb-girdle muscular dystrophy type 2B; Limb-girdle muscular dystrophy due to dysferlin deficiency (ORPHA:268)
Gene: DYSF
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: Miyoshi myopathy (ORPHA:45448)
Gene: DYSF
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: LGMD2B; LGMD type 2B; Dysferlin-related limb-girdle muscular dystrophy R2; Limb-girdle muscular dystrophy type 2B; LGMD due to dysferlin deficiency; Dysferlin-related LGMD R2; Autosomal recessive limb-girdle muscular dystrophy type 2B; Limb-girdle muscular dystrophy due to dysferlin deficiency (ORPHA:268)
Gene: DYSF
Phenotype: Tibialis muscle weakness (HP:0008963)
Associated disease: Miyoshi myopathy (ORPHA:45448)
Gene: DYSF
Phenotype: Tibialis muscle weakness (HP:0008963)
Associated disease: Distal myopathy with anterior tibial onset; Distal anterior compartment myopathy (ORPHA:178400)
Gene: DYSF
Phenotype: Intrinsic hand muscle atrophy (HP:0008954)
Associated disease: Distal myopathy with anterior tibial onset; Distal anterior compartment myopathy (ORPHA:178400)
Gene: DYSF
Phenotype: Intrinsic hand muscle atrophy (HP:0008954)
Associated disease: Miyoshi myopathy (ORPHA:45448)
Gene: DYSF
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: Miyoshi myopathy (ORPHA:45448)
Gene: DYSF
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Miyoshi myopathy (ORPHA:45448)
Gene: DYSF
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: Distal myopathy with anterior tibial onset; Distal anterior compartment myopathy (ORPHA:178400)
Gene: DYSF
Phenotype: Myalgia (HP:0003326)
Associated disease: Miyoshi myopathy (ORPHA:45448)
Gene: DYSF
Phenotype: Dysphagia (HP:0002015)
Associated disease: LGMD2B; LGMD type 2B; Dysferlin-related limb-girdle muscular dystrophy R2; Limb-girdle muscular dystrophy type 2B; LGMD due to dysferlin deficiency; Dysferlin-related LGMD R2; Autosomal recessive limb-girdle muscular dystrophy type 2B; Limb-girdle muscular dystrophy due to dysferlin deficiency (ORPHA:268)
Gene: DYSF
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: LGMD2B; LGMD type 2B; Dysferlin-related limb-girdle muscular dystrophy R2; Limb-girdle muscular dystrophy type 2B; LGMD due to dysferlin deficiency; Dysferlin-related LGMD R2; Autosomal recessive limb-girdle muscular dystrophy type 2B; Limb-girdle muscular dystrophy due to dysferlin deficiency (ORPHA:268)
Gene: DYSF
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: LGMD2B; LGMD type 2B; Dysferlin-related limb-girdle muscular dystrophy R2; Limb-girdle muscular dystrophy type 2B; LGMD due to dysferlin deficiency; Dysferlin-related LGMD R2; Autosomal recessive limb-girdle muscular dystrophy type 2B; Limb-girdle muscular dystrophy due to dysferlin deficiency (ORPHA:268)
Gene: DYSF
Phenotype: Chorea (HP:0002072)
Associated disease: LGMD2B; LGMD type 2B; Dysferlin-related limb-girdle muscular dystrophy R2; Limb-girdle muscular dystrophy type 2B; LGMD due to dysferlin deficiency; Dysferlin-related LGMD R2; Autosomal recessive limb-girdle muscular dystrophy type 2B; Limb-girdle muscular dystrophy due to dysferlin deficiency (ORPHA:268)
Gene: DYSF
Phenotype: Pollakisuria (HP:0100515)
Associated disease: LGMD2B; LGMD type 2B; Dysferlin-related limb-girdle muscular dystrophy R2; Limb-girdle muscular dystrophy type 2B; LGMD due to dysferlin deficiency; Dysferlin-related LGMD R2; Autosomal recessive limb-girdle muscular dystrophy type 2B; Limb-girdle muscular dystrophy due to dysferlin deficiency (ORPHA:268)
Gene: DYSF
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: LGMD2B; LGMD type 2B; Dysferlin-related limb-girdle muscular dystrophy R2; Limb-girdle muscular dystrophy type 2B; LGMD due to dysferlin deficiency; Dysferlin-related LGMD R2; Autosomal recessive limb-girdle muscular dystrophy type 2B; Limb-girdle muscular dystrophy due to dysferlin deficiency (ORPHA:268)
Gene: DYSF
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: Distal myopathy with anterior tibial onset; Distal anterior compartment myopathy (ORPHA:178400)
Gene: DYSF
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2 (OMIM:253601)
Gene: DYSF
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: Distal myopathy with anterior tibial onset; Distal anterior compartment myopathy (ORPHA:178400)
Gene: DYSF
Phenotype: Muscle fibrillation (HP:0010546)
Associated disease: MIYOSHI MUSCULAR DYSTROPHY 1 (OMIM:254130)
Gene: DYSF
Phenotype: Adult onset (HP:0003581)
Associated disease: MIYOSHI MUSCULAR DYSTROPHY 1 (OMIM:254130)
Gene: DYSF
Phenotype: Muscle fiber splitting (HP:0003555)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2 (OMIM:253601)
Gene: DYSF
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Miyoshi myopathy (ORPHA:45448)
Gene: DYSF
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: MIYOSHI MUSCULAR DYSTROPHY 1 (OMIM:254130)
Gene: DYSF
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2 (OMIM:253601)
Gene: DYSF
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: LGMD2B; LGMD type 2B; Dysferlin-related limb-girdle muscular dystrophy R2; Limb-girdle muscular dystrophy type 2B; LGMD due to dysferlin deficiency; Dysferlin-related LGMD R2; Autosomal recessive limb-girdle muscular dystrophy type 2B; Limb-girdle muscular dystrophy due to dysferlin deficiency (ORPHA:268)
Gene: DYSF
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Miyoshi myopathy (ORPHA:45448)
Gene: DYSF
Phenotype: Decreased/absent ankle reflexes (HP:0200101)
Associated disease: MIYOSHI MUSCULAR DYSTROPHY 1 (OMIM:254130)
Gene: DYSF
Phenotype: Decreased/absent ankle reflexes (HP:0200101)
Associated disease: Miyoshi myopathy (ORPHA:45448)
Gene: DYSF
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: Miyoshi myopathy (ORPHA:45448)
Gene: DYSF
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MIYOSHI MUSCULAR DYSTROPHY 1 (OMIM:254130)
Gene: DYSF
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2 (OMIM:253601)
Gene: DYSF
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2 (OMIM:253601)
Gene: DYSF
Phenotype: Muscular edema (HP:0100748)
Associated disease: LGMD2B; LGMD type 2B; Dysferlin-related limb-girdle muscular dystrophy R2; Limb-girdle muscular dystrophy type 2B; LGMD due to dysferlin deficiency; Dysferlin-related LGMD R2; Autosomal recessive limb-girdle muscular dystrophy type 2B; Limb-girdle muscular dystrophy due to dysferlin deficiency (ORPHA:268)
Gene: DYSF
Phenotype: Difficulty standing (HP:0003698)
Associated disease: Miyoshi myopathy (ORPHA:45448)
Gene: DYSF
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: MIYOSHI MUSCULAR DYSTROPHY 1 (OMIM:254130)
Gene: DYSF
Phenotype: Scapular winging (HP:0003691)
Associated disease: LGMD2B; LGMD type 2B; Dysferlin-related limb-girdle muscular dystrophy R2; Limb-girdle muscular dystrophy type 2B; LGMD due to dysferlin deficiency; Dysferlin-related LGMD R2; Autosomal recessive limb-girdle muscular dystrophy type 2B; Limb-girdle muscular dystrophy due to dysferlin deficiency (ORPHA:268)
Gene: DYSF
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2 (OMIM:253601)
Gene: DYSF
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET (OMIM:606768)
Gene: DYSF
Phenotype: Distal upper limb amyotrophy (HP:0007149)
Associated disease: Miyoshi myopathy (ORPHA:45448)
Gene: DYSF
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: Miyoshi myopathy (ORPHA:45448)
Gene: DYSF
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2 (OMIM:253601)
Gene: DYSF
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET (OMIM:606768)
Gene: DYSF
Phenotype: Tibialis anterior muscle atrophy (HP:0011399)
Associated disease: Miyoshi myopathy (ORPHA:45448)
Gene: DYSF
Phenotype: Decreased Achilles reflex (HP:0009072)
Associated disease: MIYOSHI MUSCULAR DYSTROPHY 1 (OMIM:254130)
Gene: DYSF
Phenotype: Progressive proximal muscle weakness (HP:0009073)
Associated disease: Distal myopathy with anterior tibial onset; Distal anterior compartment myopathy (ORPHA:178400)
Gene: DYSF
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Miyoshi myopathy (ORPHA:45448)
Gene: DYSF
Phenotype: Difficulty running (HP:0009046)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2 (OMIM:253601)
Gene: DYSF
Phenotype: Difficulty running (HP:0009046)
Associated disease: LGMD2B; LGMD type 2B; Dysferlin-related limb-girdle muscular dystrophy R2; Limb-girdle muscular dystrophy type 2B; LGMD due to dysferlin deficiency; Dysferlin-related LGMD R2; Autosomal recessive limb-girdle muscular dystrophy type 2B; Limb-girdle muscular dystrophy due to dysferlin deficiency (ORPHA:268)
Gene: DYSF
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: LGMD2B; LGMD type 2B; Dysferlin-related limb-girdle muscular dystrophy R2; Limb-girdle muscular dystrophy type 2B; LGMD due to dysferlin deficiency; Dysferlin-related LGMD R2; Autosomal recessive limb-girdle muscular dystrophy type 2B; Limb-girdle muscular dystrophy due to dysferlin deficiency (ORPHA:268)
Gene: DYSF
Phenotype: Increased connective tissue (HP:0009025)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2 (OMIM:253601)
Gene: DYSF
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Miyoshi myopathy (ORPHA:45448)
Gene: DYSF
Phenotype: Weakness of the intrinsic hand muscles (HP:0009005)
Associated disease: Distal myopathy with anterior tibial onset; Distal anterior compartment myopathy (ORPHA:178400)
Gene: DYSF
Phenotype: Young adult onset (HP:0011462)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2 (OMIM:253601)
Gene: DYSF
Phenotype: Young adult onset (HP:0011462)
Associated disease: MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET (OMIM:606768)
Gene: DYSF
Phenotype: Abnormal EKG (HP:0003115)
Associated disease: LGMD2B; LGMD type 2B; Dysferlin-related limb-girdle muscular dystrophy R2; Limb-girdle muscular dystrophy type 2B; LGMD due to dysferlin deficiency; Dysferlin-related LGMD R2; Autosomal recessive limb-girdle muscular dystrophy type 2B; Limb-girdle muscular dystrophy due to dysferlin deficiency (ORPHA:268)
Gene: DYSF
Phenotype: Myopathy (HP:0003198)
Associated disease: MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET (OMIM:606768)
Gene: DYSF
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: Distal myopathy with anterior tibial onset; Distal anterior compartment myopathy (ORPHA:178400)
Gene: DYSF
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2 (OMIM:253601)
Gene: DYSF
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: LGMD2B; LGMD type 2B; Dysferlin-related limb-girdle muscular dystrophy R2; Limb-girdle muscular dystrophy type 2B; LGMD due to dysferlin deficiency; Dysferlin-related LGMD R2; Autosomal recessive limb-girdle muscular dystrophy type 2B; Limb-girdle muscular dystrophy due to dysferlin deficiency (ORPHA:268)
Gene: DYSF
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MIYOSHI MUSCULAR DYSTROPHY 1 (OMIM:254130)
Gene: DYSF
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET (OMIM:606768)
Gene: DYSF
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2 (OMIM:253601)
Gene: DYSF
Phenotype: Brachial plexus neuropathy (HP:0045054)
Associated disease: LGMD2B; LGMD type 2B; Dysferlin-related limb-girdle muscular dystrophy R2; Limb-girdle muscular dystrophy type 2B; LGMD due to dysferlin deficiency; Dysferlin-related LGMD R2; Autosomal recessive limb-girdle muscular dystrophy type 2B; Limb-girdle muscular dystrophy due to dysferlin deficiency (ORPHA:268)
Gene: DYSF
Phenotype: Limited knee flexion/extension (HP:0005085)
Associated disease: LGMD2B; LGMD type 2B; Dysferlin-related limb-girdle muscular dystrophy R2; Limb-girdle muscular dystrophy type 2B; LGMD due to dysferlin deficiency; Dysferlin-related LGMD R2; Autosomal recessive limb-girdle muscular dystrophy type 2B; Limb-girdle muscular dystrophy due to dysferlin deficiency (ORPHA:268)
Gene: DYSF
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: MIYOSHI MUSCULAR DYSTROPHY 1 (OMIM:254130)
Gene: DYSF
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: LGMD2B; LGMD type 2B; Dysferlin-related limb-girdle muscular dystrophy R2; Limb-girdle muscular dystrophy type 2B; LGMD due to dysferlin deficiency; Dysferlin-related LGMD R2; Autosomal recessive limb-girdle muscular dystrophy type 2B; Limb-girdle muscular dystrophy due to dysferlin deficiency (ORPHA:268)
Gene: DYSF
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Miyoshi myopathy (ORPHA:45448)
Gene: DYSF
Phenotype: Fatigue (HP:0012378)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2 (OMIM:253601)
Gene: DYSF
Phenotype: Absent muscle fiber dysferlin (HP:0030114)
Associated disease: Distal myopathy with anterior tibial onset; Distal anterior compartment myopathy (ORPHA:178400)
Gene: DYSF
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: LGMD2B; LGMD type 2B; Dysferlin-related limb-girdle muscular dystrophy R2; Limb-girdle muscular dystrophy type 2B; LGMD due to dysferlin deficiency; Dysferlin-related LGMD R2; Autosomal recessive limb-girdle muscular dystrophy type 2B; Limb-girdle muscular dystrophy due to dysferlin deficiency (ORPHA:268)
Gene: DYSF
Phenotype: Limited elbow movement (HP:0002996)
Associated disease: LGMD2B; LGMD type 2B; Dysferlin-related limb-girdle muscular dystrophy R2; Limb-girdle muscular dystrophy type 2B; LGMD due to dysferlin deficiency; Dysferlin-related LGMD R2; Autosomal recessive limb-girdle muscular dystrophy type 2B; Limb-girdle muscular dystrophy due to dysferlin deficiency (ORPHA:268)
Gene: DYSF
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Miyoshi myopathy (ORPHA:45448)
Gene: DYSF
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: LGMD2B; LGMD type 2B; Dysferlin-related limb-girdle muscular dystrophy R2; Limb-girdle muscular dystrophy type 2B; LGMD due to dysferlin deficiency; Dysferlin-related LGMD R2; Autosomal recessive limb-girdle muscular dystrophy type 2B; Limb-girdle muscular dystrophy due to dysferlin deficiency (ORPHA:268)
Gene: DYSF
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Distal myopathy with anterior tibial onset; Distal anterior compartment myopathy (ORPHA:178400)
Gene: DYSF
Phenotype: Pes cavus (HP:0001761)
Associated disease: LGMD2B; LGMD type 2B; Dysferlin-related limb-girdle muscular dystrophy R2; Limb-girdle muscular dystrophy type 2B; LGMD due to dysferlin deficiency; Dysferlin-related LGMD R2; Autosomal recessive limb-girdle muscular dystrophy type 2B; Limb-girdle muscular dystrophy due to dysferlin deficiency (ORPHA:268)
Gene: COLQ
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Poor head control (HP:0002421)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)