Disease (ORPHA:157850):
Pantothenate kinase-associated neurodegeneration
Hallervorden-Spatz syndrome
NBIA1
Neurodegeneration with brain iron accumulation type 1
PKAN

Associated phenotypes (HPO):
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0001123
hpo_term: Visual field defect
chpo_term: 视野缺损
id: HP:0001152
hpo_term: Saccadic smooth pursuit
chpo_term: 扫视平滑追视
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001350
hpo_term: Slurred speech
chpo_term: 言语不清
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0003084
hpo_term: Fractures of the long bones
chpo_term: 长骨骨折
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0007132
hpo_term: Pallidal degeneration
chpo_term: 苍白球变性
id: HP:0009088
hpo_term: Speech articulation difficulties
chpo_term: 言语表达困难
id: HP:0011504
hpo_term: Bull's eye maculopathy
chpo_term: 靶心样黄斑病变
id: HP:0011916
hpo_term: Toe extensor amyotrophy
chpo_term: 趾伸肌萎缩
id: HP:0025402
hpo_term: Square-wave jerks
chpo_term: 方波急跳
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
id: HP:0031814
hpo_term: Palilalia
chpo_term: 语言重复症
id: HP:0031937
hpo_term: Tachylalia
chpo_term: 急语症
id: HP:0032014
hpo_term: Dysmetric vertical saccades
chpo_term: 垂直扫视失调
id: HP:0100033
hpo_term: Tics
chpo_term: 抽动症
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001345
hpo_term: Psychotic mentation
chpo_term: 精神心理状态
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0001927
hpo_term: Acanthocytosis
chpo_term: 棘形红细胞增多症
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
id: HP:0002454
hpo_term: Eye of the tiger anomaly of globus pallidus
chpo_term: 苍白球虎眼征
id: HP:0002483
hpo_term: Bulbar signs
chpo_term: 球部体征
id: HP:0007994
hpo_term: Peripheral visual field loss
chpo_term: 周边视野缺失
id: HP:0008181
hpo_term: Abetalipoproteinemia
chpo_term: 无β脂蛋白血症
id: HP:0009763
hpo_term: Limb pain
chpo_term: 肢体疼痛
id: HP:0012045
hpo_term: Retinal flecks
chpo_term: 视网膜斑点
id: HP:0012179
hpo_term: Craniofacial dystonia
chpo_term: 头面部肌张力障碍
id: HP:0012678
hpo_term: Iron accumulation in substantia nigra
chpo_term: 黑质铁累积
id: HP:0031959
hpo_term: Leg dystonia
chpo_term: 腿肌张力障碍
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000619
hpo_term: Impaired convergence
chpo_term: 辐凑受损
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩