TaoMedAI/RareMedData huggingface dataset:
HP:0007129: Cerebellar medulloblastoma / 小脑髓母细胞瘤
HP:0007131: Acute demyelinating polyneuropathy / 急性脱髓鞘性多发性神经病
HP:0007132: Pallidal degeneration / 苍白球变性
HP:0007133: Progressive peripheral neuropathy / 进行性周围神经病
HP:0007141: Sensorimotor neuropathy / 感觉运动神经病
HP:0007146: Bilateral basal ganglia lesions / 双侧基底节病变
HP:0007149: Distal upper limb amyotrophy / 上肢远端肌萎缩
HP:0007153: Progressive extrapyramidal movement disorder / 进行性锥体外系功能障碍
HP:0007156: Asymmetric limb muscle stiffness / 不对称的肢体肌肉僵硬
HP:0007158: Progressive extrapyramidal muscular rigidity / 进行性锥体外系肌肉僵直
HP:0007159: Fluctuations in consciousness / 意识波动
HP:0007162: Diffuse demyelination of the cerebral white matter / 脑白质弥漫性脱髓鞘
HP:0007164: Slowed slurred speech / 慢而含混不清的语言
HP:0007165: Periventricular heterotopia / 脑室周围灰质异位
HP:0007166: Paroxysmal dyskinesia / 发作性运动障碍
HP:0007178: Motor polyneuropathy / 多发性运动神经病
HP:0007179: Absent smooth pursuit / 平滑追视缺失
HP:0007181: Interosseus muscle atrophy / 骨间肌萎缩
HP:0007182: Peripheral hypomyelination / 外周神经髓鞘发育障碍
HP:0007183: Focal T2 hyperintense basal ganglia lesion / 基底节局灶性T2高信号病变
HP:0007185: Loss of consciousness / 意识丧失
HP:0007187: Focal lissencephaly / 局灶性无脑回畸形
HP:0007188: Congenital facial diplegia / 先天性双侧面瘫
HP:0007190: Neuronal loss in the cerebral cortex / 大脑皮质中神经元损失
HP:0007193: Bilateral tonic-clonic seizure on awakening / 觉醒期双侧强直- 阵挛发作
HP:0007199: Progressive spastic paraparesis / 进行性痉挛性轻瘫
HP:0007200: Episodic hypersomnia / 发作性嗜睡
HP:0007201: Cerebral artery atherosclerosis / 脑动脉粥样硬化
HP:0007204: Diffuse white matter abnormalities / 弥漫性脑白质异常
HP:0007206: Hemimegalencephaly / 偏侧巨脑/偏侧巨脑畸形
HP:0007207: Photosensitive tonic-clonic seizure / 光敏性强直阵挛发作
HP:0007208: Irregular myelin loops / 髓鞘不规则环
HP:0007209: Facial paralysis / 面瘫
HP:0007210: Lower limb amyotrophy / 下肢肌萎缩
HP:0007215: Periodic hyperkalemic paralysis / 高钾性周期性麻痹
HP:0007220: Demyelinating motor neuropathy / 脱髓鞘性运动神经病
HP:0007221: Progressive truncal ataxia / 进行性躯干共济失调
HP:0007227: Macrogyria / 巨脑回
HP:0007229: Intracerebral periventricular calcifications / 颅内脑室周围钙化
HP:0007230: Decreased distal sensory nerve action potential / 远端感觉神经动作电位降低
HP:0007232: Spinocerebellar tract disease in lower limbs / 下肢脊髓小脑性疾病
HP:0007233: Clusters of axonal regeneration / 轴突再生集群
HP:0007236: Recurrent subcortical infarcts / 复发性皮质下梗死
HP:0007238: Nonarteriosclerotic cerebral calcification / 非动脉硬化性脑钙化
HP:0007239: Congenital encephalopathy / 先天性脑病
HP:0007240: Progressive gait ataxia / 进行性共济失调
HP:0007249: Decreased number of small peripheral myelinated nerve fibers / 小的周围有髓鞘神经纤维数量减少
HP:0007250: Recurrent external ophthalmoplegia / 复发性眼外肌麻痹
HP:0007256: Abnormal pyramidal sign / 锥体束征
HP:0007258: Severe demyelination of the white matter / 严重白质脱髓鞘
HP:0007260: Type II lissencephaly / Ⅱ型无脑回畸形
HP:0007262: Symmetric peripheral demyelination / 对称性周围神经脱髓鞘
HP:0007263: Spinocerebellar atrophy / 脊髓小脑萎缩
HP:0007265: Absent mesencephalon / 中脑缺如
HP:0007266: Cerebral dysmyelination / 脑髓鞘形成障碍
HP:0007267: Chronic axonal neuropathy / 慢性轴索神经病
HP:0007268: Aprosencephaly / 脑非穿通畸形
HP:0007269: Spinal muscular atrophy / 脊肌萎缩
HP:0007270: Atypical absence seizure / 非典型失神发作
HP:0007271: Occipital myelomeningocele / 枕脊髓脊膜膨出
HP:0007272: Progressive psychomotor deterioration / 进行性精神运动恶化
HP:0007274: Recurrent bacterial meningitis / 复发性细菌性脑膜炎
HP:0007277: Paucity of anterior horn motor neurons / 前角运动神经元缺乏
HP:0007280: Acute infantile spinal muscular atrophy / 急性婴儿型脊髓性肌萎缩
HP:0007281: Developmental stagnation / 发育停滞
HP:0007285: Facial palsy secondary to cranial hyperostosis / 继发于颅骨增生的面神经麻痹
HP:0007286: Horizontal jerk nystagmus / 水平急动性眼球震颤
HP:0007289: Limb fasciculations / 肢体肌束颤动
HP:0007291: Posterior fossa cyst / 后颅窝囊肿
HP:0007293: Anterior sacral meningocele / 骶前脊膜膨出
HP:0007295: Chaotic rapid conjugate ocular movements / 快速共轭眼球运动异常
HP:0007299: Dysfunction of lateral corticospinal tracts / 皮质脊髓侧束功能障碍
HP:0007301: Oromotor apraxia / 口部失用
HP:0007302: Bipolar affective disorder / 双相情感障碍
HP:0007305: CNS demyelination / 中枢神经系统脱髓鞘
HP:0007307: Rapid neurologic deterioration / 快速神经功能恶化
HP:0007308: Extrapyramidal dyskinesia / 锥体外系运动障碍
HP:0007311: Short stepped shuffling gait / 小碎步步态
HP:0007313: Cerebral degeneration / 脑变性
HP:0007321: Deep white matter hypodensities / 深部脑白质低信号
HP:0007325: Generalized dystonia / 全面性肌张力障碍
HP:0007326: Progressive choreoathetosis / 进行性舞蹈手足徐动
HP:0007327: Mixed demyelinating and axonal polyneuropathy / 脱髓鞘和轴突混合型多发性周围神经病
HP:0007328: Impaired pain sensation / 痛觉障碍
HP:0007330: Frontal encephalocele / 额叶脑膨出
HP:0007332: Focal hemifacial clonic seizure / 局灶性单侧面部阵挛发作
HP:0007333: Hypoplasia of the frontal lobes / 额叶发育不良
HP:0007334: Bilateral tonic-clonic seizure with focal onset / 双侧强直阵挛发作
HP:0007335: Recurrent encephalopathy / 复发性脑病
HP:0007338: Hypermetric saccades / 过快扫视
HP:0007340: Lower limb muscle weakness / 下肢肌肉无力
HP:0007341: Diffuse swelling of cerebral white matter / 脑白质弥漫性肿胀
HP:0007343: Abnormal morphology of the limbic system / 边缘叶形态异常
HP:0007344: Atrophy/Degeneration involving the spinal cord / 脊髓萎缩/退化
HP:0007346: Subcortical white matter calcifications / 皮质下白质钙化
HP:0007348: Hypoplasia of the pyramidal tract / 锥体束发育不全
HP:0007350: Hyperreflexia in upper limbs / 上肢反射亢进
HP:0007351: Upper limb postural tremor / 上肢姿势性震颤
HP:0007352: Cerebellar calcifications / 小脑钙化
HP:0007354: Amyotrophic lateral sclerosis / 肌萎缩侧索硬化
HP:0007359: Focal-onset seizure / 局灶性发作
HP:0007360: Aplasia/Hypoplasia of the cerebellum / 小脑发育缺陷/发育不全
HP:0007361: Abnormal pons morphology / 桥脑形态异常
HP:0007362: Aplasia/Hypoplasia of the brainstem / 脑干发育缺陷/发育不全
HP:0007363: Aplasia/Hypoplasia of the pyramidal tract / 锥体束不发育/发育不全
HP:0007364: Aplasia/Hypoplasia of the cerebrum / 大脑发育缺陷/发育不全
HP:0007365: Aplasia/Hypoplasia involving the corticospinal tracts / 累及皮质脊髓束的发育缺陷/发育不全
HP:0007366: Atrophy/Degeneration affecting the brainstem / 影响脑干的萎缩/退化
HP:0007367: Atrophy/Degeneration affecting the central nervous system / 影响中枢神经系统的萎缩/退化
HP:0007369: Atrophy/Degeneration affecting the cerebrum / 影响大脑的萎缩/退化
HP:0007370: Aplasia/Hypoplasia of the corpus callosum / 胼胝体发育缺陷/发育不全
HP:0007371: Corpus callosum atrophy / 胼胝体萎缩
HP:0007372: Atrophy/Degeneration involving the corticospinal tracts / 累及皮质脊髓束的萎缩/退化
HP:0007373: Motor neuron atrophy / 运动神经元萎缩
HP:0007374: Atrophy/Degeneration involving the caudate nucleus / 累及尾状核的萎缩/退化
HP:0007375: Abnormal septum pellucidum morphology / 透明隔形态异常
HP:0007376: Abnormal choroid plexus morphology / 脉络丛形态异常
HP:0007377: Abnormality of somatosensory evoked potentials / 体感诱发电位异常
HP:0007378: Neoplasm of the gastrointestinal tract / 胃肠道新生物
HP:0007379: Neoplasm of the genitourinary tract / 泌尿生殖道肿瘤
HP:0007380: Facial telangiectasia / 面部毛细血管扩张
HP:0007381: Congenital exfoliative erythroderma / 先天性剥脱性红皮病
HP:0007383: Congenital localized absence of skin / 先天性局部皮肤缺损
HP:0007384: Aberrant melanosome maturation / 黑素小体成熟障碍
HP:0007385: Aplasia cutis congenita of scalp / 先天性头皮表皮发育不全
HP:0007387: Hypoplastic sweat glands / 汗腺发育不全
HP:0007390: Hyperkeratosis with erythema / 红斑角化症
HP:0007392: Excessive wrinkled skin / 皮肤皱褶过多
HP:0007394: Prominent superficial blood vessels / 浅表血管突出
HP:0007395: Postnatal-onset ichthyosiform erythroderma / 先天性鱼鳞病样红皮病
HP:0007396: Early cutaneous photosensitivity / 早发性光敏性皮肤
HP:0007397: Axillary apocrine gland hypoplasia / 腋下大汗腺发育不全
HP:0007398: Asymmetric, linear skin defects / 非对称性线性皮损
HP:0007400: Irregular hyperpigmentation / 不规则色素沉着
HP:0007401: Macular atrophy / 黄斑萎缩
HP:0007402: Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines / 不沿Blaschko线分布的色素减退和色素沉着区域
HP:0007403: Hypertrophy of skin of soles / 跖部皮肤肥厚
HP:0007404: Nonepidermolytic palmoplantar hyperkeratosis / 非表皮松解性掌跖角化症
HP:0007406: Hyperpigmentation of eyelids / 眼睑色素沉着
HP:0007407: Excessive skin wrinkling on dorsum of hands and fingers / 手背和指背部皱褶过多
HP:0007408: Tegumentary leishmaniasis susceptibility / 皮肤利什曼病易感
HP:0007410: Palmoplantar hyperhidrosis / 掌跖多汗症
HP:0007411: Hypoplastic-absent sebaceous glands / 发育不全性皮脂腺缺如
HP:0007412: Macular hyperpigmented dermopathy / 斑疹样色素沉着性皮肤病
HP:0007413: Nevus flammeus of the forehead / 前额鲜红斑痣
HP:0007414: Neonatal wrinkled skin of hands and feet / 新生儿手足皱褶
HP:0007417: Discoid lupus rash / 盘状红斑狼疮
HP:0007418: Alopecia totalis / 全秃
HP:0007420: Spontaneous hematomas / 自发性血肿
HP:0007421: Telangiectases of the cheeks / 面颊毛细血管扩张
HP:0007425: Hyperextensible skin of face / 面部皮肤过度伸展
HP:0007427: Reticulated skin pigmentation / 网状色素沉着
HP:0007428: Telangiectasia of the oral mucosa / 口腔粘膜毛细血管扩张
HP:0007429: Few cafe-au-lait spots / 散发型牛奶咖啡斑
HP:0007430: Generalized edema / 广泛水肿
HP:0007431: Congenital ichthyosiform erythroderma / 先天性鱼鳞病样红皮病
HP:0007432: Intermittent generalized erythematous papular rash / 间歇性弥漫性红色斑丘疹
HP:0007434: Plaque-like facial hemangioma / 斑块样面部血管瘤
HP:0007436: Hair-nail ectodermal dysplasia / 毛发-指甲型外胚层发育不良
HP:0007437: Multiple cutaneous leiomyomas / 多发性皮肤平滑肌瘤
HP:0007438: Mottled pigmentation of the trunk and proximal extremities / 躯干和四肢近端斑驳状色素沉着
HP:0007439: Generalized keratosis follicularis / 泛发性毛囊角化症
HP:0007440: Generalized hyperpigmentation / 泛发性色素沉着
HP:0007441: Hyperpigmented/hypopigmented macules / 色素沉着/色素减退斑（色素异常斑）
HP:0007443: Partial albinism / 白点病；斑驳病；斑状白斑病；斑状白癜风；斑状白化病；
HP:0007446: Palmoplantar blistering / 掌跖起泡
HP:0007447: Diffuse palmoplantar hyperkeratosis / 弥漫性掌跖角化过度
HP:0007448: Hyperkeratosis over edematous areas / 水肿伴角化过度
HP:0007449: Confetti-like hypopigmented macules / 斑驳样色素减退斑
HP:0007450: Increased groin pigmentation with raindrop depigmentation / 腹股沟色素沉着伴点滴状色素脱失
HP:0007451: Ipsilateral lack of facial sweating / 患侧面部出汗减少
HP:0007452: Midface capillary hemangioma / 面中部毛细血管瘤
HP:0007453: Flexural lichenification / 弯曲部位苔藓样变
HP:0007455: Adermatoglyphia / 皮纹病
HP:0007456: Progressive reticulate hyperpigmentation / 进行性网状色素沉着
HP:0007457: Prominent veins on trunk / 主干静脉隆凸。
HP:0007458: Focal hyperextensible skin / 局灶性皮肤过度伸展
HP:0007459: Generalized anhidrosis / 泛发性无汗症
HP:0007460: Autoamputation of digits / 手指（足趾）自发性离断
HP:0007461: Hemangiomatosis / 多发性血管瘤
HP:0007462: Bitot spots of the conjunctiva / 结膜 毕脱氏斑
HP:0007464: Sparse facial hair / 面部毛发稀疏
HP:0007465: Honeycomb palmoplantar hyperkeratosis / 蜂窝状掌跖角化
HP:0007466: Midfrontal capillary hemangioma / 额中部毛细血管瘤
HP:0007468: Perifollicular hyperkeratosis / 毛周角化症
HP:0007469: Palmoplantar cutis gyrata / 掌跖表皮旋纹
HP:0007470: Periarticular subcutaneous nodules / 关节周围皮下结节
HP:0007471: Axillary and groin hyperpigmentation and hypopigmentation / 腋窝和腹股沟部位色素沉着和色素减退
HP:0007473: Crusting erythematous dermatitis / 结痂性红斑样皮炎
HP:0007475: Congenital bullous ichthyosiform erythroderma / 先天性大疱性鱼鳞病样红皮病
HP:0007476: Anhidrotic ectodermal dysplasia / 无汗性外胚层发育不良
HP:0007477: Abnormal dermatoglyphics / 皮纹异常
HP:0007479: Congenital nonbullous ichthyosiform erythroderma / 鱼鳞病样红皮病(大疱型)、大疱性鱼鳞病样角化过度症、显性遗传性先天性鱼鳞病、表皮松解性角化过度鱼鳞病
HP:0007480: Decreased sweating due to autonomic dysfunction / 植物神经功能紊乱性少汗
HP:0007481: Hyperpigmented nevi / 色素痣
HP:0007482: Generalized papillary lesions / 泛发性乳头瘤样病变
HP:0007483: Depigmentation/hyperpigmentation of skin / 皮肤色素脱失/色素沉着
HP:0007485: Absence of subcutaneous fat / 皮下脂肪缺如
HP:0007486: Cavernous hemangioma of the face / 面部海绵状血管瘤
HP:0007488: Diffuse skin atrophy / 弥漫性皮肤萎缩
HP:0007489: Diffuse telangiectasia / 弥漫性毛细血管扩张
HP:0007490: Linear arrays of macular hyperkeratoses in flexural areas / 弯曲部位线状分布的角化过度斑
HP:0007494: Discrete 2 to 5-mm hyper- and hypopigmented macules / 散在分布的2至5mm大小的色素沉着/减退斑
HP:0007495: Prematurely aged appearance / 早衰面容
HP:0007497: Focal friction-related palmoplantar hyperkeratosis / 摩擦所致的局部掌跖角化
HP:0007499: Recurrent staphylococcal infections / 反复葡萄球菌感染
HP:0007500: Decreased number of sweat glands / 汗腺数目减少
HP:0007501: Streaks of hyperkeratosis along each finger onto the palm / 掌侧沿手指分布的线状角化过度
HP:0007502: Follicular hyperkeratosis / 克尔里病，贯穿性角化过度病
HP:0007503: Generalized ichthyosis / 泛发性鱼鳞病
HP:0007504: Diffuse slow skin atrophy / 进行性弥漫性皮肤萎缩
HP:0007505: Progressive hyperpigmentation / 进行性色素沉着
HP:0007506: Congenital absence of skin of limbs / 先天性四肢皮肤缺损
HP:0007508: Punctate palmar hyperkeratosis / 点状掌部日光性角化病
HP:0007509: Patchy hypo- and hyperpigmentation / 斑片状色素减退和色素沉着
HP:0007510: Focal dermal aplasia/hypoplasia / 真皮局灶性发育缺陷/发育不全
HP:0007511: Mottled pigmentation of photoexposed areas / 曝露部位斑驳状色素沉着
HP:0007513: Generalized hypopigmentation / 泛发性色素减退
HP:0007514: Edema of the dorsum of hands / 手背水肿
HP:0007515: Hypoplastic pilosebaceous units / 毛囊皮脂腺发育不全
HP:0007516: Redundant skin on fingers / 手指赘肉
HP:0007517: Palmoplantar cutis laxa / 掌跖皮肤松弛
HP:0007521: Irregular hyperpigmentation of back / 背部不规则色素沉着
HP:0007522: Increased number of skin folds / 皮肤皱褶增多
HP:0007524: Atypical neurofibromatosis / 非典型神经纤维瘤病
HP:0007525: Yellow subcutaneous tissue covered by thin, scaly skin / 由薄层鳞状皮肤覆盖的黄色皮下组织
HP:0007526: Hypopigmented skin patches on arms / 手臂色素减退斑
HP:0007529: Hidrotic ectodermal dysplasia / 有汗型外胚层发育不良
HP:0007530: Punctate palmoplantar hyperkeratosis / 点状掌跖角化
HP:0007534: Congenital posterior occipital alopecia / 先天性枕后脱发
HP:0007535: Hypopigmented streaks / 色素减退纹
HP:0007536: Aplasia cutis congenita of midline scalp vertex / 先天性头顶中线部表皮发育不全
HP:0007537: Severe photosensitivity / 重度光敏性
HP:0007541: Frontal cutaneous lipoma / 前额皮肤脂肪瘤
HP:0007542: Absent pigmentation of the ventral chest / 前胸部色素缺失
HP:0007543: Epidermal hyperkeratosis / 表皮角化过度
HP:0007544: Piebaldism / 斑驳病、图案状白皮病
HP:0007545: Congenital palmoplantar hyperkeratosis / 先天性掌跖角化过度
HP:0007546: Linear hyperpigmentation / 线状色素沉着
HP:0007549: Desquamation of skin soon after birth / 出生后皮肤剥脱
HP:0007550: Hypohidrosis or hyperhidrosis / 少汗/多汗症
HP:0007552: Abnormal subcutaneous fat tissue distribution / 皮下脂肪组织分布异常
HP:0007553: Congenital symmetrical palmoplantar keratosis / 先天性掌跖角化
HP:0007554: Confetti hypopigmentation pattern of lower leg skin / 小腿斑驳样色素减退
HP:0007556: Plantar hyperkeratosis / 跖部角化过度
HP:0007559: Localized epidermolytic hyperkeratosis / 局部表皮松解性角化过度症
HP:0007560: Unusual dermatoglyphics / 不寻常的皮纹
HP:0007565: Multiple cafe-au-lait spots / 多发性咖啡斑
HP:0007566: Index finger dermatoglyphic radial loop / 食指桡箕纹
HP:0007569: Generalized seborrheic dermatitis / 泛发性脂溢性皮炎
HP:0007570: Hyperkeratosis lenticularis perstans / 持久性豆状角化过度病
HP:0007572: Hyperpigmented streaks / 线状色素沉着
HP:0007573: Late onset atopic dermatitis / 迟发型过敏性皮炎
HP:0007574: Generalized bronze hyperpigmentation / 弥漫性青铜色色素沉着
HP:0007576: Palmar neurofibromas / 手掌神经纤维瘤
HP:0007581: Mediosternal, longitudinal streak of hypopigmentation / 胸骨中部纵向分布的线状色素减退斑
HP:0007583: Telangiectasia macularis eruptiva perstans / 持久斑疹性毛细血管扩张
HP:0007585: Skin fragility with non-scarring blistering / 非疤痕发疱性脆性皮肤
HP:0007586: Telangiectases producing 'marbled' skin / “大理石样” 毛细血管扩张性皮肤
HP:0007587: Numerous pigmented freckles / 多发性雀斑
HP:0007588: Reticular hyperpigmentation / 网状色素沉着
HP:0007589: Aplasia cutis congenita on trunk or limbs / 先天性躯干或四肢表皮发育不全
HP:0007590: Aplasia cutis congenita over posterior parietal area / 先天性后顶叶表皮发育不全
HP:0007592: Aplasia/Hypoplastia of the eccrine sweat glands / 外分泌汗腺发育缺陷/不全
HP:0007595: Redundant skin in infancy / 婴儿赘肉
HP:0007596: Painful subcutaneous lipomas / 痛性皮下脂肪瘤
HP:0007598: Bilateral single transverse palmar creases / 双侧单掌横折痕
HP:0007599: Generalized reticulate brown pigmentation / 泛发性网状棕色色素沉着
HP:0007601: Midline facial capillary hemangioma / 面中线毛细血管瘤
HP:0007602: Complex palmar dermatoglyphic pattern / 复杂的掌皮纹
HP:0007603: Freckles in sun-exposed areas / 曝光部位雀斑
HP:0007605: Excessive wrinkling of palmar skin / 手掌部皱褶过多
HP:0007606: Multiple cutaneous malignancies / 多发性皮肤恶性肿瘤
HP:0007607: Hypohidrotic ectodermal dysplasia / 少汗性外胚层发育不良
HP:0007608: Abnormal palmar dermal ridges / 手掌侧皮肤脊异常
HP:0007609: Hypoproteinemic edema / 低蛋白性水肿
HP:0007610: Blotching pigmentation of the skin / 皮肤色素沉着斑
HP:0007613: Spinous keratoses of palms and soles / 掌跖皮肤棘状角化
HP:0007616: Nevus flammeus nuchae / 颈部鲜红斑痣
HP:0007617: Fine, reticulate skin pigmentation / 细网状色素沉着
HP:0007618: Subcutaneous calcification / 皮下钙化
HP:0007620: Cutaneous leiomyoma / 皮肤平滑肌瘤
HP:0007621: Telangiectasia of extensor surfaces / 伸肌表面毛细血管扩张
HP:0007623: Pigmentation anomalies of sun-exposed skin / 曝光部位色素异常
HP:0007626: Mandibular osteomyelitis / 下颌骨骨髓炎
HP:0007627: Mandibular condyle aplasia / 下颌骨髁发育不全
HP:0007628: Mandibular condyle hypoplasia / 下颌骨髁发育不全
HP:0007633: Bilateral microphthalmos / 双侧小眼畸形
HP:0007634: Nonarteritic anterior ischemic optic neuropathy / 非动脉炎性前部缺血性视神经病变
HP:0007641: Dyschromatopsia / 色觉障碍
HP:0007642: Congenital stationary night blindness / 先天性静止性夜盲症
HP:0007643: Peripheral tractional retinal detachment / 牵拉性周边视网膜脱离
HP:0007646: Absent lower eyelashes / 下睫毛缺失
HP:0007647: Congenital extraocular muscle anomaly / 先天性眼外肌异常
HP:0007648: Punctate cataract / 点状白内障
HP:0007649: Congenital hypertrophy of retinal pigment epithelium / 先天性视网膜色素上皮肥大
HP:0007650: Progressive ophthalmoplegia / 渐进性眼肌麻痹
HP:0007651: Ectropion of lower eyelids / 下眼睑外翻
HP:0007655: Eversion of lateral third of lower eyelids / 下眼睑外侧三分之一外翻
HP:0007656: Lacrimal gland aplasia / 泪腺发育缺陷
HP:0007657: Diffuse nuclear cataract / 弥漫性核性白内障
HP:0007658: Large hyperpigmented retinal spots / 视网膜上大色素沉着斑
HP:0007661: Abnormality of chorioretinal pigmentation / 脉络膜视网膜色素沉着异常
HP:0007663: Reduced visual acuity / 视力下降
HP:0007665: Curly eyelashes / 睫毛卷翘
HP:0007667: Peripheral cystoid retinal degeneration / 周边视网膜囊样变性
HP:0007668: Impaired pursuit initiation and maintenance / 追视启动和维持受损
HP:0007670: Abnormal vestibulo-ocular reflex / 前庭眼反射异常
HP:0007675: Progressive night blindness / 渐进性夜盲症
HP:0007676: Hypoplasia of the iris / 虹膜发育不全
HP:0007677: Vitelliform-like macular lesions / 卵黄样黄斑病变
HP:0007678: Lacrimal duct stenosis / 泪道狭窄
HP:0007680: Depigmented fundus / 眼底脱色素
HP:0007685: Peripheral retinal avascularization / 周边视网膜血管缺失
HP:0007686: Abnormal pupillary function / 瞳孔功能异常
HP:0007687: Unilateral ptosis / 单侧上睑下垂
HP:0007688: Undetectable light- and dark-adapted electroretinogram / 无法检测的明暗适应视网膜电图
HP:0007690: Map-dot-fingerprint corneal dystrophy / 地图点指纹角膜营养不良
HP:0007695: Abnormal pupillary light reflex / 瞳孔对光反射异常
HP:0007697: Hypoplasia of the lower eyelids / 下眼睑发育不全
HP:0007700: Ocular anterior segment dysgenesis / 眼球前段发育不全
HP:0007703: Abnormality of retinal pigmentation / 视网膜色素异常
HP:0007704: Paroxysmal involuntary eye movements / 阵发性不自主眼球运动
HP:0007705: Corneal degeneration / 角膜变性
HP:0007707: Congenital aphakia / 先天性无晶状体
HP:0007708: Absent inner eyelashes / 内睫缺失
HP:0007709: Band-shaped corneal dystrophy / 带状角膜营养不良
HP:0007710: Peripheral vitreous opacities / 周边玻璃体混浊
HP:0007715: Weak extraocular muscles / 眼外肌薄弱
HP:0007716: Uveal melanoma / 葡萄膜黑色素瘤
HP:0007717: Chronic irritative conjunctivitis / 慢性刺激性结膜炎
HP:0007720: Flat cornea / 扁平角膜
HP:0007721: Saccular conjunctival dilatations / 结膜血管囊状扩张
HP:0007722: Retinal pigment epithelial atrophy / 视网膜色素上皮萎缩
HP:0007727: Opacification of the corneal epithelium / 角膜上皮混浊
HP:0007728: Congenital miosis / 先天性瞳孔缩小
HP:0007730: Iris hypopigmentation / 虹膜色素减退
HP:0007731: Chorioretinal dysplasia / 脉络膜视网膜发育不良
HP:0007732: Lacrimal gland hypoplasia / 泪腺发育不全
HP:0007733: Laterally curved eyebrow / 横向弧形眉
HP:0007734: Enlarged lacrimal glands / 泪腺增大
HP:0007737: Bone spicule pigmentation of the retina / 骨针样视网膜色素沉着
HP:0007738: Uncontrolled eye movements / 不受控制的眼球运动
HP:0007740: Long eyelashes in irregular rows / 不规则排列的长睫
HP:0007747: Monocular horizontal nystagmus / 单眼水平性眼球震颤
HP:0007750: Hypoplasia of the fovea / 黄斑中心凹发育不全
HP:0007754: Macular dystrophy / 黄斑营养不良
HP:0007755: Juvenile epithelial corneal dystrophy / 青少年型上皮性角膜营养不良
HP:0007759: Opacification of the corneal stroma / 角膜基质的混浊
HP:0007760: Crystalline corneal dystrophy / 结晶状角膜营养不良
HP:0007761: Pericentral scotoma / 中央周围暗点
HP:0007763: Retinal telangiectasia / 视网膜毛细血管扩张
HP:0007765: Deep anterior chamber / 深前房
HP:0007766: Optic disc hypoplasia / 视盘发育不良
HP:0007768: Central retinal vessel vascular tortuosity / 视网膜中央血管迂曲
HP:0007769: Peripheral retinal degeneration / 周边视网膜变性
HP:0007770: Hypoplasia of the retina / 视网膜发育不全
HP:0007772: Impaired smooth pursuit / 平滑追视障碍
HP:0007773: Vitreoretinopathy / 玻璃体视网膜病
HP:0007774: Hypoplasia of the ciliary body / 睫状体发育不全
HP:0007776: Sparse lower eyelashes / 下睫稀疏
HP:0007777: Chorioretinal scar / 脉络膜视网膜瘢痕
HP:0007778: Posterior retinal neovascularization / 视网膜后新生血管形成
HP:0007779: Anterior segment of eye aplasia / 眼前段发育不良
HP:0007780: Cortical pulverulent cataract / 皮层粉状白内障
HP:0007787: Posterior subcapsular cataract / 后囊下白内障
HP:0007791: Patchy atrophy of the retinal pigment epithelium / 视网膜色素上皮斑状萎缩
HP:0007792: Microsaccadic pursuit / 眼球扫视范围变窄
HP:0007793: Granular macular appearance / 斑点状黄斑色素异常
HP:0007795: Anterior cortical cataract / 前皮质性白内障
HP:0007797: Retinal vascular malformation / 视网膜血管畸形
HP:0007799: Conjunctival whitish salt-like deposits / 结膜发白盐状沉积物
HP:0007800: Increased axial length of the globe / 眼球轴长度增加
HP:0007802: Granular corneal dystrophy / 颗粒状角膜营养不良
HP:0007803: Monochromacy / 单色觉
HP:0007807: Optic nerve compression / 视神经受压
HP:0007809: Punctate corneal dystrophy / 点状角膜营养不良
HP:0007811: Horizontal pendular nystagmus / 横向摆动眼球震颤
HP:0007812: Herpetiform corneal ulceration / 泡疹角膜溃疡
HP:0007813: Nongranulomatous uveitis / 非肉芽肿性葡萄膜炎
HP:0007814: Retinal pigment epithelial mottling / 视网膜色素上皮斑驳
HP:0007815: Abnormal distribution of retinal arterioles and venules / 视网膜小动、静脉分布异常
HP:0007817: Horizontal supranuclear gaze palsy / 水平核上性凝视麻痹
HP:0007818: Central heterochromia / 中央虹膜异色
HP:0007819: Presenile cataracts / 早老性白内障
HP:0007820: Lacrimal punctal atresia / 泪点闭锁
HP:0007822: Central retinal exudate / 视网膜中央渗液
HP:0007824: Total ophthalmoplegia / 全眼肌麻痹
HP:0007827: Nodular corneal dystrophy / 结节性角膜营养不良
HP:0007830: Adult-onset night blindness / 成人发病夜盲症
HP:0007831: Nonprogressive restrictive external ophthalmoplegia / 非进行性限制性眼外肌麻痹
HP:0007832: Pigmentation of the sclera / 巩膜色素沉着
HP:0007833: Anterior chamber synechiae / 前房粘连
HP:0007834: Progressive cataract / 渐进性白内障
HP:0007835: S-shaped palpebral fissures / S形睑裂
HP:0007836: Mosaic corneal dystrophy / 嵌合型角膜营养不良
HP:0007838: Progressive ptosis / 渐进性上睑下垂
HP:0007840: Long upper eyelashes / 长上睫毛
HP:0007841: Amyloid deposition in the vitreous humor / 玻璃体淀粉样蛋白沉积
HP:0007843: Attenuation of retinal blood vessels / 视网膜血管减少
HP:0007850: Retinal vascular proliferation / 视网膜血管增生
HP:0007854: Glaucomatous visual field defect / 青光眼性视野缺损
HP:0007856: Punctate opacification of the cornea / 角膜的点状混浊
HP:0007858: Chorioretinal lacunae / 脉络膜视网膜漏洞
HP:0007859: Congenital horizontal nystagmus / 先天性水平眼球震颤
HP:0007862: Retinal calcification / 视网膜钙化
HP:0007866: Retinal infarction / 局部视网膜梗死
HP:0007867: Restrictive partial external ophthalmoplegia / 限制性部分眼外肌麻痹
HP:0007872: Choroidal hemangioma / 脉络膜血管瘤
HP:0007873: Abnormally prominent line of Schwalbe / Schwalbe线异常突出
HP:0007874: Almond-shaped palpebral fissure / 杏仁状睑裂
HP:0007875: Congenital blindness / 先天性失明
HP:0007879: Allergic conjunctivitis / 过敏性结膜炎
HP:0007880: Marginal corneal dystrophy / 边缘性角膜营养不良
HP:0007881: Central corneal dystrophy / 中央角膜营养不良
HP:0007885: Slowed horizontal saccades / 水平扫视缓慢
HP:0007886: Absent extraocular muscles / 眼外肌缺如
HP:0007889: Iridescent posterior subcapsular cataract / 彩虹色后囊下白内障
HP:0007892: Hypoplasia of the lacrimal punctum / 泪点发育不全
HP:0007894: Hypopigmentation of the fundus / 眼底的色素沉着不足
HP:0007898: Exudative retinopathy / 渗出性视网膜病变
HP:0007899: Retinal nonattachment / 视网膜无附着
HP:0007900: Hypoplastic lacrimal duct / 泪道发育不全
HP:0007902: Vitreous hemorrhage / 玻璃体出血
HP:0007903: Paravenous chorioretinal atrophy / 静脉旁脉络膜视网膜萎缩
HP:0007905: Abnormal iris vasculature / 虹膜血管异常
HP:0007906: Ocular hypertension / 眼压升高
HP:0007911: Congenital bilateral ptosis / 先天性双侧上睑下垂
HP:0007913: Reticular retinal dystrophy / 网状视网膜营养不良
HP:0007915: Polymorphous posterior corneal dystrophy / 多形性后角膜营养不良
HP:0007917: Tractional retinal detachment / 牵拉性视网膜脱离
HP:0007922: Hypermyelinated retinal nerve fibers / 视网膜神经纤维过度髓化
HP:0007924: Slow decrease in visual acuity / 视力缓慢下降
HP:0007925: Lacrimal duct aplasia / 泪管发育缺陷
HP:0007928: Abnormal flash visual evoked potentials / 闪光视觉诱发电位异常
HP:0007929: Peripheral retinal detachment / 周边视网膜脱离
HP:0007932: Bilateral congenital mydriasis / 先天性双侧瞳孔散大
HP:0007933: Broad lateral eyebrow / 宽侧眉
HP:0007935: Juvenile posterior subcapsular lenticular opacities / 青少年型后囊下晶体混浊
HP:0007936: Restrictive external ophthalmoplegia / 限制性眼外肌麻痹
HP:0007937: Reticular pigmentary degeneration / 网状视网膜色素变性
HP:0007939: Blue cone monochromacy / 蓝锥单色盲
HP:0007941: Limited extraocular movements / 眼球运动受限
HP:0007942: Internal ophthalmoplegia / 眼内肌麻痹
HP:0007943: Congenital stapes ankylosis / 先天性镫骨硬化
HP:0007944: Intermittent microsaccadic pursuits / 眼球微小扫视运动
HP:0007946: Unilateral narrow palpebral fissure / 单侧睑裂狭小