Disease (ORPHA:52430):
IBMPFD
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Pagetoid neuroskeletal syndrome
Limb-girdle muscular dystrophy with Paget disease of bone
Pagetoid amyotrophic lateral sclerosis

Associated phenotypes (HPO):
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0003805
hpo_term: Rimmed vacuoles
chpo_term: 镶边空泡
id: HP:0012083
hpo_term: Ubiquitin-positive cerebral inclusion bodies
chpo_term: 泛素阳性的大脑包涵体
id: HP:0000925
hpo_term: Abnormality of the vertebral column
chpo_term: 脊柱异常
id: HP:0002145
hpo_term: Frontotemporal dementia
chpo_term: 额颞叶痴呆
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0030838
hpo_term: Hip pain
chpo_term: 髋痛
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001293
hpo_term: Cranial nerve compression
chpo_term: 颅神经受压
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0002300
hpo_term: Mutism
chpo_term: 缄默症
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0002442
hpo_term: Dyscalculia
chpo_term: 计算困难
id: HP:0002450
hpo_term: Abnormal motor neuron morphology
chpo_term: 运动神经元的形态异常
id: HP:0002463
hpo_term: Language impairment
chpo_term: 语言障碍
id: HP:0002493
hpo_term: Upper motor neuron dysfunction
chpo_term: 上运动神经元功能障碍/功能异常
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0002683
hpo_term: Abnormal calvaria morphology
chpo_term: 颅骨形态异常
id: HP:0002839
hpo_term: Urinary bladder sphincter dysfunction
chpo_term: 膀胱括约肌功能障碍
id: HP:0003390
hpo_term: Sensory axonal neuropathy
chpo_term: 感觉轴索神经病
id: HP:0003444
hpo_term: EMG: chronic denervation signs
chpo_term: 肌电图:慢性失神经支配的征象
id: HP:0003445
hpo_term: EMG: neuropathic changes
chpo_term: 肌电图：神经源性变化
id: HP:0003700
hpo_term: Generalized amyotrophy
chpo_term: 泛发性肌萎缩
id: HP:0004347
hpo_term: Weakness of muscles of respiration
chpo_term: 呼吸肌无力
id: HP:0004490
hpo_term: Calvarial hyperostosis
chpo_term: 颅骨骨质增生
id: HP:0007002
hpo_term: Motor axonal neuropathy
chpo_term: 运动轴索性神经病
id: HP:0007354
hpo_term: Amyotrophic lateral sclerosis
chpo_term: 肌萎缩侧索硬化
id: HP:0011314
hpo_term: Abnormal long bone morphology
chpo_term: 长骨形态异常
id: HP:0012548
hpo_term: Fatty replacement of skeletal muscle
chpo_term: 骨骼肌脂肪浸润
id: HP:0002756
hpo_term: Pathologic fracture
chpo_term: 病理性骨折