TaoMedAI/RareMedData huggingface dataset:
HP:0003168: Dibasicaminoaciduria / 双碱基氨基酸尿症
HP:0003170: Abnormal acetabulum morphology / 髋臼形态异常
HP:0003172: Abnormality of the pubic bone / 耻骨异常
HP:0003173: Hypoplastic pubic bone / 耻骨发育不全
HP:0003174: Abnormality of the ischium / 坐骨异常
HP:0003175: Hypoplastic ischia / 坐骨发育不全
HP:0003177: Squared iliac bones / 方形髂骨
HP:0003179: Protrusio acetabuli / 髋臼内陷
HP:0003180: Flat acetabular roof / 扁平髋臼顶
HP:0003182: Shallow acetabular fossae / 髋臼窝变浅
HP:0003183: Wide pubic symphysis / 耻骨联合增宽
HP:0003184: Decreased hip abduction / 髋关节外展减小
HP:0003185: Short greater sciatic notch / 骶髂切迹小
HP:0003186: Inverted nipples / 乳头内陷
HP:0003187: Breast hypoplasia / 乳房发育不良
HP:0003189: Long nose / 长鼻
HP:0003191: Cleft ala nasi / 鼻翼裂
HP:0003193: Allergic rhinitis / 过敏性鼻炎
HP:0003194: Short nasal bridge / 短鼻梁
HP:0003196: Short nose / 短鼻
HP:0003198: Myopathy / 肌病
HP:0003199: Decreased muscle mass / 肌量减少
HP:0003200: Ragged-red muscle fibers / 破碎红纤维
HP:0003201: Rhabdomyolysis / 横纹肌溶解症
HP:0003202: Skeletal muscle atrophy / 骨骼肌萎缩
HP:0003203: Impaired oxidative burst / 四氮唑蓝（NBT）还原试验阴性
HP:0003204: Intracellular accumulation of autofluorescent lipopigment storage material / 自体荧光脂色素存储物质的胞内堆积
HP:0003205: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material / 自体荧光脂色素存储物质的胞内曲线堆积
HP:0003206: Decreased activity of NADPH oxidase / NADPH氧化酶活性降低
HP:0003207: Arterial calcification / 动脉钙化
HP:0003208: Fingerprint intracellular accumulation of autofluorescent lipopigment storage material / 自体荧光脂色素存储物质的细胞内堆积指纹谱
HP:0003209: Decreased pyruvate carboxylase activity / 丙酮酸羧化酶活性降低
HP:0003210: Decreased methylmalonyl-CoA mutase activity / 甲基丙二酰辅酶A变位酶活性降低
HP:0003212: Increased circulating IgE level / 循环IgE升高
HP:0003213: Deficient excision of UV-induced pyrimidine dimers in DNA / 紫外线引起的DNA分子中嘧啶二聚体的切除缺陷
HP:0003214: Prolonged G2 phase of cell cycle / 细胞周期中G2期延长
HP:0003215: Dicarboxylic aciduria / 二羧酸尿症
HP:0003216: Generalized amyloid deposition / 淀粉样物质的广泛沉积
HP:0003217: Hyperglutaminemia / 高谷氨酰胺血症
HP:0003218: Oroticaciduria / 乳清酸尿症
HP:0003219: Ethylmalonic aciduria / 乙基丙二酸尿症
HP:0003220: Abnormality of chromosome stability / 染色体稳定性异常
HP:0003221: Chromosomal breakage induced by crosslinking agents / 交联剂诱发的染色体断裂
HP:0003223: Decreased methylcobalamin / 甲基钴胺素减少
HP:0003224: Increased cellular sensitivity to UV light / 对紫外光的细胞敏感度增强
HP:0003225: Reduced coagulation factor V activity / 凝血因子V活性减低
HP:0003226: Rectilinear intracellular accumulation of autofluorescent lipopigment storage material / 自体荧光脂色素存储物质的直线性胞内堆积
HP:0003228: Hypernatremia / 高钠血症
HP:0003231: Hypertyrosinemia / 高酪氨酸血症
HP:0003232: Mitochondrial malic enzyme reduced / 线粒体苹果酸酶减少
HP:0003233: Decreased HDL cholesterol concentration / 低α-脂蛋白血症
HP:0003234: Decreased plasma carnitine / 血浆肉碱降低
HP:0003235: Hypermethioninemia / 高甲硫胺酸血症
HP:0003236: Elevated circulating creatine kinase concentration / 血清肌酸磷酸激酶升高
HP:0003237: Increased circulating IgG level / 循环IgG水平升高
HP:0003238: Hyperpepsinogenemia I / 高胃蛋白酶原血症
HP:0003239: Phosphoethanolaminuria / 磷酸乙醇胺尿症
HP:0003240: Increased phosphoribosylpyrophosphate synthetase level / 磷酸核糖焦磷酸合成酶增高
HP:0003241: External genital hypoplasia / 外生殖器发育不良
HP:0003244: Penile hypospadias / 阴茎型尿道下裂
HP:0003246: Prominent scrotal raphe / 阴囊中缝突出
HP:0003247: Overgrowth of external genitalia / 外生殖器过度生长
HP:0003248: Gonadal tissue inappropriate for external genitalia or chromosomal sex / 性腺组织与外生殖器或染色体性别不相配
HP:0003249: Genital ulcers / 生殖器溃疡
HP:0003250: Aplasia of the vagina / 阴道发育不全
HP:0003251: Male infertility / 男性不育
HP:0003252: Anteriorly displaced genitalia / 外生殖器向前移位
HP:0003254: Abnormality of DNA repair / DNA修复异常
HP:0003256: Abnormality of the coagulation cascade / 凝血因子级联反应异常
HP:0003258: Glyoxalase deficiency / 乙二醛酶缺乏症
HP:0003259: Elevated circulating creatinine concentration / 血清肌酐水平升高
HP:0003260: Hydroxyprolinemia / 羟脯氨酸血症
HP:0003261: Increased circulating IgA level / 循环IgA升高
HP:0003262: Smooth muscle antibody positivity / 平滑肌抗体阳性
HP:0003264: Deficiency of N-acetylglucosamine-1-phosphotransferase / N-乙酰氨基葡萄糖胺-1-磷酸转移酶缺陷
HP:0003265: Neonatal hyperbilirubinemia / 新生儿高胆红素血症
HP:0003267: Reduced orotidine 5-prime phosphate decarboxylase level / 乳清苷5'磷酸苷脱羧酶活性降低
HP:0003268: Argininuria / 精氨酸尿
HP:0003269: Sudanophilic leukodystrophy / 嗜苏丹型脑白质营养不良
HP:0003270: Abdominal distention / 腹胀
HP:0003271: Visceromegaly / 内脏肿大
HP:0003272: Abnormal hip bone morphology / 髋骨形态异常
HP:0003273: Hip contracture / 髋关节挛缩
HP:0003274: Hypoplastic acetabulae / 髋臼发育低下
HP:0003275: Narrow pelvis bone / 骨盆狭窄
HP:0003276: Pelvic bone exostoses / 骨盆外生骨疣
HP:0003277: Constricted iliac wing / 收缩的髂翼
HP:0003278: Square pelvis bone / 方形骨盆
HP:0003279: Coxa magna / 髋膨大
HP:0003281: Increased circulating ferritin concentration / 血清铁蛋白升高
HP:0003282: Low alkaline phosphatase / 低碱性磷酸酶
HP:0003286: Cystathioninemia / 胱硫醚血症
HP:0003287: Abnormality of mitochondrial metabolism / 线粒体代谢异常
HP:0003288: Mitochondrial propionyl-CoA carboxylase defect / 线粒体丙酰辅酶A羧化酶（PCC）缺陷
HP:0003292: Decreased serum leptin / 血清瘦素水平降低
HP:0003296: Hyperthreoninuria / 高苏氨酸尿症
HP:0003297: Hyperlysinuria / 高赖氨酸尿症
HP:0003298: Spina bifida occulta / 隐性脊柱裂
HP:0003300: Ovoid vertebral bodies / 卵形椎体
HP:0003301: Irregular vertebral endplates / 椎体终板不规则
HP:0003302: Spondylolisthesis / 脊椎滑脱症
HP:0003304: Spondylolysis / 峡部裂
HP:0003305: Block vertebrae / 脊椎分节不全
HP:0003306: Spinal rigidity / 脊柱强直
HP:0003307: Hyperlordosis / 脊柱前凸过度
HP:0003308: Cervical subluxation / 颈椎半脱位
HP:0003309: Ovoid thoracolumbar vertebrae / 卵形胸腰椎体
HP:0003310: Abnormality of the odontoid process / 齿状突异常
HP:0003311: Hypoplasia of the odontoid process / 齿状突发育不全
HP:0003312: Abnormal form of the vertebral bodies / 椎体形态异常
HP:0003316: Butterfly vertebrae / 蝴蝶椎
HP:0003318: Cervical spine hypermobility / 颈椎过度活动
HP:0003319: Abnormality of the cervical spine / 颈椎异常
HP:0003320: C1-C2 subluxation / C1-C2半脱位
HP:0003321: Biconcave flattened vertebrae / 双凹扁平椎体
HP:0003323: Progressive muscle weakness / 进行性肌无力
HP:0003324: Generalized muscle weakness / 泛发性肌无力
HP:0003325: Limb-girdle muscle weakness / 肢带肌无力
HP:0003326: Myalgia / 肌痛
HP:0003327: Axial muscle weakness / 中轴肌无力
HP:0003328: Abnormal hairshaft morphology / 毛干形态异常
HP:0003329: Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes / 毛干不规则扁平分布并绕发轴180度扭转
HP:0003330: Abnormal bone structure / 骨结构异常
HP:0003332: Absent primary metaphyseal spongiosa / 原发性干骺端松质缺如
HP:0003333: Increased serum beta-hexosaminidase / 血清β-氨基己糖苷酶增高
HP:0003334: Elevated circulating catecholamine level / 血儿茶酚胺水平升高
HP:0003336: Abnormal enchondral ossification / 软骨内骨化异常
HP:0003337: Reduced prothrombin consumption / 凝血酶原消耗减少
HP:0003338: Focal necrosis of right ventricular muscle cells / 右心室肌细胞局灶性坏死
HP:0003339: Pyrimidine-responsive megaloblastic anemia / 嘧啶反应性巨幼细胞性贫血
HP:0003341: Lamina lucida cleavage / 透明层裂隙
HP:0003343: Reduced glutathione synthetase level / 谷胱甘肽合成酶缺乏症
HP:0003344: 3-Methylglutaric aciduria / 3-甲基戊二酸尿症
HP:0003345: Elevated urinary norepinephrine / 尿去甲肾上腺素浓度增高
HP:0003347: Impaired lymphocyte transformation with phytohemagglutinin / 植物血凝素淋巴细胞转化受损
HP:0003348: Hyperalaninemia / 高丙氨酸血症
HP:0003349: Low cholesterol esterification rate / 低胆固醇酯化率
HP:0003351: Decreased circulating renin level / 血肾素水平降低
HP:0003352: Endopolyploidy on chromosome studies of bone marrow / 骨髓染色体的核内多倍性检查
HP:0003353: Propionyl-CoA carboxylase deficiency / 丙酰辅酶A羧化酶缺乏
HP:0003354: Hyperthreoninemia / 高苏氨酸血症
HP:0003355: Aminoaciduria / 氨基酸尿
HP:0003357: Thymic hormone decreased / 胸腺激素减少
HP:0003358: Elevated intracellular cystine / 胞内胱氨酸浓度升高
HP:0003359: Decreased urinary sulfate / 尿硫酸盐减少
HP:0003361: Tryptophanuria / 色氨酸尿症
HP:0003362: Increased VLDL cholesterol concentration / 循环系统内的极低密度脂蛋白胆固醇浓度增高
HP:0003363: Abdominal situs inversus / 腹部内脏逆位
HP:0003365: Arthralgia of the hip / 髋关节痛
HP:0003366: Abnormal femoral neck/head morphology / 股骨颈/头形态异常
HP:0003367: Abnormal femoral neck morphology / 股骨颈形态异常
HP:0003368: Abnormal femoral head morphology / 股骨头形态异常
HP:0003370: Flat capital femoral epiphysis / 股骨近端骨骺扁平
HP:0003371: Enlargement of the proximal femoral epiphysis / 股骨近端骨骺膨大
HP:0003375: Narrow greater sciatic notch / 坐骨大切迹变窄
HP:0003376: Steppage gait / 跨阈步态
HP:0003378: Axonal degeneration/regeneration / 轴索变性/再生
HP:0003380: Decreased number of peripheral myelinated nerve fibers / 周围有髓神经纤维数量减少
HP:0003382: Hypertrophic nerve changes / 肥厚性神经改变
HP:0003383: Onion bulb formation / 洋葱球形成
HP:0003384: Peripheral axonal atrophy / 外围神经轴索萎缩
HP:0003387: Decreased number of large peripheral myelinated nerve fibers / 大的周围有髓鞘神经纤维数量减少
HP:0003388: Easy fatigability / 易疲劳性
HP:0003390: Sensory axonal neuropathy / 感觉轴索神经病
HP:0003391: Gowers sign / 高尔斯征
HP:0003392: First dorsal interossei muscle weakness / 第一背侧骨间肌无力
HP:0003393: Thenar muscle atrophy / 鱼际肌萎缩
HP:0003394: Muscle spasm / 肌肉痉挛
HP:0003396: Syringomyelia / 脊髓空洞症
HP:0003397: Generalized hypotonia due to defect at the neuromuscular junction / 由于神经肌肉接头缺陷导致的广泛性肌张力减低
HP:0003398: Abnormal synaptic transmission at the neuromuscular junction / 神经肌肉接头异常
HP:0003400: Basal lamina onion bulb formation / 基底层“洋葱头样”改变
HP:0003401: Paresthesia / 感觉异常
HP:0003402: Decreased miniature endplate potentials / 微终板电位降低
HP:0003403: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation / EMG：复合肌肉动作电位对重复神经刺激的反应递减
HP:0003405: Diffuse axonal swelling / 弥漫性轴索肿胀
HP:0003406: Peripheral nerve compression / 周围神经受压
HP:0003409: Distal sensory impairment of all modalities / 远端各种感觉障碍
HP:0003411: Proximal femoral metaphyseal irregularity / 股骨近端干骺端不规则
HP:0003413: Atlantoaxial abnormality / 寰枢椎畸形
HP:0003414: Atlantoaxial dislocation / 寰枢椎脱位
HP:0003416: Spinal canal stenosis / 椎管狭窄
HP:0003417: Coronal cleft vertebrae / 冠状位脊柱裂
HP:0003418: Back pain / 背部疼痛
HP:0003419: Low back pain / 下背部疼痛
HP:0003422: Vertebral segmentation defect / 椎体分节缺陷
HP:0003423: Thoracolumbar kyphoscoliosis / 胸腰段脊柱后侧凸畸形
HP:0003426: First dorsal interossei muscle atrophy / 第一背侧骨间肌萎缩
HP:0003427: Thenar muscle weakness / 鱼际肌无力
HP:0003429: CNS hypomyelination / 中枢神经系统髓鞘形成减少
HP:0003431: Decreased motor nerve conduction velocity / 运动神经传导速度降低
HP:0003434: Sensory ataxic neuropathy / 感觉性共济失调性神经病
HP:0003435: Cold-induced hand cramps / 寒冷诱发的手肌强直
HP:0003436: Prolonged miniature endplate currents / 微终板电流延长
HP:0003438: Absent Achilles reflex / 跟腱反射缺如
HP:0003440: Horizontal sacrum / 水平骶骨
HP:0003443: Decreased size of nerve terminals / 神经终板缩小
HP:0003444: EMG: chronic denervation signs / 肌电图:慢性失神经支配的征象
HP:0003445: EMG: neuropathic changes / 肌电图：神经源性变化
HP:0003447: Axonal loss / 轴突缺失
HP:0003448: Decreased sensory nerve conduction velocity / 感觉神经传导速度降低
HP:0003449: Cold-induced muscle cramps / 冷刺激引起的肌肉痉挛
HP:0003450: Axonal regeneration / 轴突再生
HP:0003451: Increased rate of premature chromosome condensation / 早熟染色体凝缩率增高
HP:0003452: Increased serum iron / 血清铁离子增高
HP:0003453: Antineutrophil antibody positivity / 抗中性粒细胞抗体阳性
HP:0003454: Platelet antibody positive / 血小板抗体阳性
HP:0003455: Elevated circulating long chain fatty acid concentration / 长链脂肪酸水平升高
HP:0003456: Low urinary cyclic AMP response to PTH administration / 尿环腺苷酸对甲状旁腺素（PTH）治疗反应低下
HP:0003457: EMG abnormality / 肌电图异常
HP:0003458: EMG: myopathic abnormalities / EMG:肌病样异常
HP:0003459: Polyclonal elevation of IgM / IgM抗体多克隆性增高
HP:0003460: Decreased circulating total IgA / 循环总 IgA 降低
HP:0003461: Increased urinary O-linked sialopeptides / 尿液唾液酸肽增加
HP:0003462: Elevated 8-dehydrocholesterol / 8-脱氢胆固醇水平升高
HP:0003463: Increased extraneuronal autofluorescent lipopigment / 神经元外自体荧光脂褐素增加
HP:0003465: Elevated 8(9)-cholestenol / 8（9）-胆甾烯醇水平升高
HP:0003466: Paradoxical increased cortisol secretion on dexamethasone suppression test / 地塞米松抑制试验皮质醇分泌反常增加
HP:0003467: Atlantoaxial instability / 寰枢椎不稳
HP:0003468: Abnormal vertebral morphology / 椎骨形态异常
HP:0003469: Peripheral dysmyelination / 外周神经髓鞘化障碍
HP:0003470: Paralysis / 瘫痪
HP:0003472: Hypocalcemic tetany / 低钙搐搦
HP:0003473: Fatigable weakness / 疲劳性肌无力
HP:0003474: Somatic sensory dysfunction / 躯体感觉异常
HP:0003477: Peripheral axonal neuropathy / 轴索性周围神经病
HP:0003481: Segmental peripheral demyelination/remyelination / 节段性神经末梢脱髓鞘/髓鞘再生
HP:0003482: EMG: axonal abnormality / 肌电图：轴突异常
HP:0003484: Upper limb muscle weakness / 上肢肌无力
HP:0003487: Babinski sign / 巴彬斯基征
HP:0003489: Acute episodes of neuropathic symptoms / 神经性症状急性发作
HP:0003491: Elevated urine pyrophosphate / 尿焦磷酸增高
HP:0003492: High urinary gonadotropin level / 尿液促性腺激素高
HP:0003493: Antinuclear antibody positivity / 抗核抗体阳性
HP:0003495: GM2-ganglioside accumulation / GM2神经节苷脂堆积
HP:0003496: Increased circulating IgM level / 循环IgM水平升高
HP:0003498: Disproportionate short stature / 不成比例的身材矮小
HP:0003502: Mild short stature / 轻度身材矮小
HP:0003508: Proportionate short stature / 成比例身材矮小
HP:0003510: Severe short stature / 严重的身材矮小
HP:0003513: Reduced ratio of renal calcium clearance to creatinine clearance / 肾钙清除与肌酐清除比率降低
HP:0003514: Deficiency or absence of cytochrome b(-245) / 细胞色素b（-245）缺乏或缺失
HP:0003517: Birth length greater than 97th percentile / 出生身长大于97百分位数
HP:0003521: Disproportionate short-trunk short stature / 不成比例的短躯干性矮小
HP:0003524: Decreased methionine synthase activity / 甲硫氨酸合成酶活性降低
HP:0003526: Orotic acid crystalluria / 乳清酸结晶尿症
HP:0003527: Hyperprostaglandinuria / 高前列腺素尿症
HP:0003528: Elevated calcitonin / 降钙素升高
HP:0003529: Parathormone-independent increased renal tubular calcium reabsorption / 非甲状旁腺激素依赖性肾小管钙重吸收增加
HP:0003530: Elevated circulating glutaric acid concentration / 戊二酸血症
HP:0003532: Ornithinuria / 鸟氨酸尿症
HP:0003533: Reduced acetaldehyde dehydrogenase level / 乙醛氧化延迟
HP:0003534: Reduced xanthine dehydrogenase level / 黄嘌呤脱氢酶活性降低
HP:0003535: 3-Methylglutaconic aciduria / 3-甲基戊烯二酸尿症
HP:0003536: Decreased fumarate hydratase activity / 延胡索酸水解酶活性降低
HP:0003537: Hypouricemia / 低尿酸血症
HP:0003538: Increased iduronate sulfatase level / 艾杜糖醛酸硫酸酯酶水平升高
HP:0003540: Impaired platelet aggregation / 血小板聚集障碍
HP:0003541: Urinary glycosaminoglycan excretion / 糖胺聚糖尿排泄
HP:0003542: Increased serum pyruvate / 血清丙酮酸增高
HP:0003546: Exercise intolerance / 运动不耐受
HP:0003547: Shoulder girdle muscle weakness / 肩胛带肌肉无力
HP:0003548: Subsarcolemmal accumulations of abnormally shaped mitochondria / 肌膜下形态异常的线粒体沉积
HP:0003549: Abnormality of connective tissue / 结缔组织异常
HP:0003550: Predominantly lower limb lymphedema / 主要累及下肢的淋巴水肿
HP:0003551: Difficulty climbing stairs / 爬楼梯困难
HP:0003552: Muscle stiffness / 肌肉僵硬
HP:0003554: Type 2 muscle fiber atrophy / 2型肌纤维萎缩
HP:0003555: Muscle fiber splitting / 肌纤维分裂
HP:0003557: Increased variability in muscle fiber diameter / 肌纤维直径变异性增大
HP:0003558: Viral infection-induced rhabdomyolysis / 病毒感染诱导的横纹肌瘤
HP:0003559: Muscle hyperirritability / 腱反射亢进
HP:0003560: Muscular dystrophy / 肌营养不良
HP:0003561: Birth length less than 3rd percentile / 出生身长小于第3百分位数
HP:0003562: Abnormal metaphyseal vascular invasion / 干骺端血管异常侵犯
HP:0003563: Decreased LDL cholesterol concentration / 低β-脂蛋白血症
HP:0003564: Folate-dependent fragile site at Xq28 / 叶酸依赖性Xq28脆性位点
HP:0003565: Elevated erythrocyte sedimentation rate / 红细胞沉降速度升高
HP:0003566: Increased serum prostaglandin E2 / 血清前列腺素E2增高
HP:0003568: Decreased glucosephosphate isomerase level / 葡萄糖磷酸异构酶活性降低
HP:0003570: Molybdenum cofactor deficiency / 钼辅助因子缺乏
HP:0003571: Propionic acidemia / 丙酸血症
HP:0003572: Low plasma citrulline / 低血浆瓜氨酸
HP:0003573: Increased total bilirubin / 总胆红素增加
HP:0003574: Positive regitine blocking test / 酚妥拉明阻断试验阳性
HP:0003575: Increased intracellular sodium / 细胞内钠离子浓度增高
HP:0003577: Congenital onset / 先天发病
HP:0003581: Adult onset / 成年期发病
HP:0003584: Late onset / 老年期发病
HP:0003587: Insidious onset / 隐袭发病
HP:0003593: Infantile onset / 婴儿期发病
HP:0003596: Middle age onset / 中年期发病
HP:0003606: Absent urinary urothione / 尿硫蝶呤缺乏
HP:0003607: 4-hydroxyphenylacetic aciduria / 4-羟基苯乙酸尿症
HP:0003609: Foam cells with lamellar inclusion bodies / 层状包涵体泡沫细胞
HP:0003610: Fibroblast metachromasia / 成纤维细胞异染
HP:0003612: Positive ferric chloride test / 三氯化铁试验阳性
HP:0003613: Antiphospholipid antibody positivity / 抗磷脂抗体阳性
HP:0003614: Trimethylaminuria / 三甲胺尿症
HP:0003616: Premature separation of centromeric heterochromatin / 着丝粒异染色质的过早分离
HP:0003621: Juvenile onset / 青少年期发病
HP:0003623: Neonatal onset / 新生儿期发病
HP:0003634: Amyoplasia / 广泛肌肉发育不良
HP:0003635: Loss of subcutaneous adipose tissue in limbs / 四肢皮下脂肪组织丢失
HP:0003637: Reduced 4-Hydroxyphenylpyruvate dioxygenase level / 4-羟基苯丙酮酸双加氧酶活性降低
HP:0003639: Elevated urinary epinephrine / 尿肾上腺素增高
HP:0003640: CNS foam cells / 中枢神经系统泡沫细胞
HP:0003641: Hemoglobinuria / 血红蛋白尿
HP:0003642: Type I transferrin isoform profile / I型转铁蛋白异构体谱
HP:0003643: Sulfite oxidase deficiency / 亚硫酸氧化酶缺乏症
HP:0003645: Prolonged partial thromboplastin time / 部分凝血活酶时间延长
HP:0003646: Bicarbonaturia / 尿重碳酸氢盐增多
HP:0003647: Electron transfer flavoprotein-ubiquinone oxidoreductase defect / 电子传递黄素蛋白 - 泛醌氧化还原酶缺陷
HP:0003648: Lacticaciduria / 乳酸血症
HP:0003649: Abnormality of glycoside metabolism / 糖苷代谢异常
HP:0003651: Foam cells / 泡沫细胞
HP:0003652: Recurrent myoglobinuria / 复发性肌红蛋白尿
HP:0003653: Cellular metachromasia / 细胞异染
HP:0003654: Reduced dihydropyrimidine dehydrogenase level / 双氢嘧啶脱氢酶活性降低
HP:0003655: Reduced level of N-acetylglucosaminyltransferase II / N-乙酰氨基葡萄糖转移酶II活性降低
HP:0003656: Decreased beta-glucocerebrosidase level / β-葡萄糖脑苷脂酶蛋白和活性降低
HP:0003657: Granular osmiophilic deposits (GROD) in cells / 胞内嗜锇颗粒沉积
HP:0003658: Hypomethioninemia / 低甲硫氨酸血症
HP:0003665: Amyotrophy of the musculature of the pelvis / 骨盆肌萎缩
HP:0003674: Onset / 发病期
HP:0003676: Progressive / 进行性/渐进性
HP:0003677: Slowly progressive / 缓慢进展
HP:0003678: Rapidly progressive / 快速进展
HP:0003679: Pace of progression / 进展速度
HP:0003680: Nonprogressive / 非进行性
HP:0003682: Variable progression rate / 可变性进展
HP:0003683: Large beaked nose / 大喙鼻
HP:0003687: Centrally nucleated skeletal muscle fibers / 中央成核的骨骼肌纤维
HP:0003688: Cytochrome C oxidase-negative muscle fibers / 细胞色素C氧化酶阴性肌肉纤维
HP:0003689: Multiple mitochondrial DNA deletions / 线粒体DNA多处缺失
HP:0003690: Limb muscle weakness / 四肢肌肉无力
HP:0003691: Scapular winging / 翼状肩胛
HP:0003693: Distal amyotrophy / 远端肌肉萎缩
HP:0003694: Late-onset proximal muscle weakness / 晚发性近端肌无力
HP:0003696: Absent epiphysis of the distal phalanx of the 5th finger / 第五指末节指骨骨骺缺如
HP:0003697: Scapuloperoneal amyotrophy / 肩腓肌萎缩
HP:0003698: Difficulty standing / 站立困难
HP:0003700: Generalized amyotrophy / 泛发性肌萎缩
HP:0003701: Proximal muscle weakness / 近端肌肉无力
HP:0003704: Scapuloperoneal weakness / 肩腓肌无力
HP:0003707: Calf muscle pseudohypertrophy / 小腿肌肉假性肥大
HP:0003710: Exercise-induced muscle cramps / 运动引起的肌肉痉挛
HP:0003712: Skeletal muscle hypertrophy / 骨骼肌肥大
HP:0003713: Muscle fiber necrosis / 肌纤维坏死
HP:0003715: Myofibrillar myopathy / 肌原纤维肌病
HP:0003716: Generalized muscular appearance from birth / 出生时全身肌肉显露
HP:0003717: Minimal subcutaneous fat / 最低限度的皮下脂肪
HP:0003719: Muscle mounding / 肌球
HP:0003720: Generalized muscle hypertrophy / 广泛肌肉肥大
HP:0003722: Neck flexor weakness / 颈屈肌无力
HP:0003724: Shoulder girdle muscle atrophy / 肩胛带肌肉萎缩
HP:0003725: Firm muscles / 肌肉坚硬
HP:0003729: Enteroviral dermatomyositis syndrome / 肠道病毒皮肌炎综合征
HP:0003730: EMG: myotonic runs / 强直型肌电图波
HP:0003731: Quadriceps muscle weakness / 股四头肌无力
HP:0003733: Thigh hypertrophy / 大腿肥大
HP:0003736: Autophagic vacuoles / 自噬空泡
HP:0003737: Mitochondrial myopathy / 线粒体肌病
HP:0003738: Exercise-induced myalgia / 运动诱发的肌肉痛
HP:0003739: Myoclonic spasms / 肌阵挛性抽搐
HP:0003740: Myotonia with warm-up phenomenon / 运动后肌强直现象
HP:0003741: Congenital muscular dystrophy / 先天性肌营养不良
HP:0003743: Genetic anticipation / 遗传早现
HP:0003744: Genetic anticipation with paternal anticipation bias / 偏向父系传递的遗传早现
HP:0003745: Sporadic / 散发的
HP:0003749: Pelvic girdle muscle weakness / 骨盆带肌无力
HP:0003750: Increased muscle fatiguability / 肌肉易疲劳
HP:0003752: Episodic flaccid weakness / 发作性弛缓无力
HP:0003755: Type 1 fibers relatively smaller than type 2 fibers / 1型纤维相对于2型纤维小
HP:0003756: Skeletal myopathy / 骨骼肌病
HP:0003758: Reduced subcutaneous adipose tissue / 皮下脂肪组织减少
HP:0003759: Hypoplasia of lymphatic vessels / 淋巴管发育不全
HP:0003760: Percussion-induced rapid rolling muscle contractions / 扣击引起的快速滚动的肌肉收缩（PIRC）
HP:0003761: Calcinosis / 钙质沉着
HP:0003762: Uterus didelphys / 双子宫
HP:0003763: Bruxism / 磨牙症
HP:0003764: Nevus / 色素痣
HP:0003765: Psoriasiform dermatitis / 银屑病样皮炎
HP:0003768: Periodic paralysis / 周期性麻痹
HP:0003771: Pulp calcification / 牙髓钙化
HP:0003774: Stage 5 chronic kidney disease / 慢性肾病5期
HP:0003777: Pili torti / 卷发
HP:0003778: Short mandibular rami / 下颌支短
HP:0003779: Antegonial notching of mandible / 下颌骨前角切迹
HP:0003781: Excessive salivation / 唾液分泌过多
HP:0003782: Eunuchoid habitus / 类无睾者习性
HP:0003784: Type 1 collagen overmodification / Ⅰ型胶原过度修饰
HP:0003785: Decreased CSF homovanillic acid concentration / 脑脊液高香草酸水平降低
HP:0003787: Type 1 and type 2 muscle fiber minicore regions / 1 型和 2 型肌纤维微核心区域
HP:0003789: Minicore myopathy / 小核肌病
HP:0003791: Deposits immunoreactive to beta-amyloid protein / β-淀粉样蛋白免疫反应性沉积
HP:0003795: Short middle phalanx of toe / 中节趾骨短
HP:0003796: Irregular iliac crest / 髂嵴不规则
HP:0003797: Limb-girdle muscle atrophy / 肢带肌萎缩
HP:0003798: Nemaline bodies / 杆状体
HP:0003799: Marked delay in bone age / 骨龄显著延迟
HP:0003800: Muscle abnormality related to mitochondrial dysfunction / 线粒体功能障碍引起的肌异常
HP:0003803: Type 1 muscle fiber predominance / 1型肌纤维优势
HP:0003805: Rimmed vacuoles / 镶边空泡
HP:0003808: Abnormal muscle tone / 肌张力异常
HP:0003809: Reduced intrathoracic adipose tissue / 胸内脂肪组织减少
HP:0003810: Late-onset distal muscle weakness / 晚发型远端肌无力
HP:0003811: Neonatal death / 新生儿期夭折
HP:0003812: Phenotypic variability / 表型多样性
HP:0003819: Death in childhood / 儿童期死亡
HP:0003826: Stillbirth / 死胎
HP:0003828: Variable expressivity / 表现度差异
HP:0003829: Typified by incomplete penetrance / 具有不完全外显的特征
HP:0003831: Typified by age-related penetrance / 具有年龄相关的外显率特征
HP:0003832: Abnormality of the tibial plateaux / 胫骨平台异常
HP:0003833: Laterally deficient tibial plateaux / 胫骨平台外侧缺陷
HP:0003834: Shoulder dislocation / 肩关节脱位
HP:0003835: Shoulder subluxation / 肩关节半脱位
HP:0003836: Stippled calcification of the shoulder / 肩部点状钙化
HP:0003837: Soft-tissue ossification around the shoulders / 肩周软组织骨化
HP:0003839: Abnormality of upper limb epiphysis morphology / 上肢骨骺形态异常
HP:0003840: Delayed upper limb epiphyseal ossification / 上肢骨骺骨化延迟
HP:0003841: Fragmented epiphyses of the upper limbs / 上肢骨骺碎裂
HP:0003842: Irregular epiphyses of the upper limbs / 上肢骨骺不规则
HP:0003843: Round epiphyses of the upper limbs / 上肢圆形骨骺
HP:0003844: Small epiphyses of the upper limbs / 上肢小骨骺
HP:0003846: Wide epiphyseal plates of the upper limbs / 上肢骨骺板增宽
HP:0003848: Cupped metaphyses of the upper limbs / 上肢杯状干骺端
HP:0003849: Flared upper limb metaphysis / 上肢骨喇叭状干骺端
HP:0003850: Upper-limb metaphyseal irregularity / 上肢干骺端不规则
HP:0003851: Lytic defects in metaphyses of the upper limbs / 上肢干骺端溶骨缺陷
HP:0003852: Normal density transverse bands in metaphyses of the upper limbs / 上肢干骺端正常密度横带
HP:0003853: Sclerosis with transverse striations in metaphyses of the upper limbs / 上肢干骺端横条纹硬化
HP:0003854: Sclerosis of metaphyses of the upper limbs / 上肢干骺端硬化
HP:0003855: Spurred metaphyses of the upper limbs / 上肢干骺端骨刺
HP:0003856: Upper limb metaphyseal widening / 上肢干骺端增宽
HP:0003858: Cortical diaphyseal irregularity of the upper limbs / 上肢骨干皮质不规则
HP:0003859: Cortical diaphyseal thickening of the upper limbs / 上肢骨干皮质增厚
HP:0003860: Diaphyseal sclerosis of the upper limbs / 上肢骨干硬化
HP:0003861: Broad diaphyses of the upper limbs / 上肢骨干变宽
HP:0003862: Absent humerus / 肱骨缺如
HP:0003863: Angulated humerus / 成角肱骨
HP:0003864: Bifid humerus / 肱骨骨裂
HP:0003865: Bowed humerus / 肱骨弯曲
HP:0003866: Coarse humeral trabeculae / 粗大的肱骨小梁
HP:0003867: Humeral cortical irregularity / 肱骨皮质不规则
HP:0003868: Humeral cortical thickening / 肱骨皮质增厚
HP:0003869: Humeral cortical thinning / 肱骨皮质变薄
HP:0003870: Crumpled humerus / 肱骨皱缩
HP:0003871: Deformed humerus / 肱骨变形
HP:0003872: Humeral exostoses / 肱骨外生骨疣
HP:0003874: Humerus varus / 肱骨内翻
HP:0003875: Humeral lytic defects / 肱骨溶骨缺陷
HP:0003876: Osteoporotic humerus / 肱骨骨质疏松
HP:0003877: Oval transradiancy of humerus / 肱骨椭圆形经辐射
HP:0003878: Periosteal new bone of humerus / 肱骨骨膜新骨
HP:0003879: Humeral pseudarthrosis / 肱骨假关节
HP:0003880: Sclerotic foci of the humerus / 肱骨硬化灶
HP:0003881: Humeral sclerosis / 肱骨硬化
HP:0003882: Slender humerus / 肱骨修长
HP:0003883: Tapered humerus / 锥形肱骨
HP:0003884: Triangular humerus / 三角形肱骨
HP:0003885: Undermodeled humerus / 未成形肱骨
HP:0003886: Wide humerus / 宽肱骨
HP:0003887: Abnormal humeral head morphology / 肱骨头形态异常
HP:0003888: Flattened humeral heads / 肱骨头扁平
HP:0003889: Abnormal deltoid tuberosity morphology / 三角肌粗隆形态异常
HP:0003890: Prominent deltoid tuberosities / 三角肌粗隆凸起
HP:0003891: Abnormality of the humeral epiphysis / 肱骨骨骺异常