TaoMedAI/RareMedData huggingface dataset:
HP:0000765: Abnormal thorax morphology / 胸廓形态异常
HP:0000766: Abnormal sternum morphology / 胸骨形态异常
HP:0000767: Pectus excavatum / 漏斗胸
HP:0000768: Pectus carinatum / 鸡胸
HP:0000769: Abnormality of the breast / 乳房异常
HP:0000771: Gynecomastia / 男子女性乳房发育
HP:0000772: Abnormal rib morphology / 肋骨形态异常
HP:0000773: Short ribs / 短肋
HP:0000774: Narrow chest / 窄胸
HP:0000775: Abnormality of the diaphragm / 膈肌异常
HP:0000776: Congenital diaphragmatic hernia / 先天性膈疝
HP:0000777: Abnormality of the thymus / 胸腺异常
HP:0000778: Hypoplasia of the thymus / 胸腺发育不全
HP:0000782: Abnormal scapula morphology / 肩胛骨形态异常
HP:0000786: Primary amenorrhea / 原发性闭经
HP:0000787: Nephrolithiasis / 肾结石
HP:0000789: Infertility / 不孕症/不育症
HP:0000790: Hematuria / 血尿
HP:0000791: Uric acid nephrolithiasis / 肾尿酸结石
HP:0000793: Membranoproliferative glomerulonephritis / 膜增生性肾小球肾炎
HP:0000794: IgA deposition in the glomerulus / 肾小球IgA沉积
HP:0000795: Abnormality of the urethra / 尿道异常
HP:0000796: Urethral obstruction / 尿道梗阻
HP:0000798: Oligospermia / 少精症
HP:0000799: Renal steatosis / 肾脂肪变性
HP:0000800: Cystic renal dysplasia / 囊性肾发育不良
HP:0000802: Impotence / 阳痿
HP:0000803: Renal cortical cysts / 肾皮质囊肿
HP:0000804: Xanthine nephrolithiasis / 肾黄嘌呤结石
HP:0000805: Enuresis / 遗尿症
HP:0000807: Glandular hypospadias / 阴茎头型尿道下裂
HP:0000808: Penoscrotal hypospadias / 阴茎阴囊型尿道下裂
HP:0000809: Urinary tract atresia / 尿道闭锁
HP:0000811: Abnormal external genitalia / 外生殖器异常
HP:0000812: Abnormal internal genitalia / 内生殖器异常
HP:0000813: Bicornuate uterus / 双角子宫
HP:0000815: Hypergonadotropic hypogonadism / 高促性腺激素性性腺功能减退症
HP:0000816: Abnormality of Krebs cycle metabolism / Krebs循环代谢异常
HP:0000817: Poor eye contact / 眼神躲避
HP:0000818: Abnormality of the endocrine system / 内分泌系统异常
HP:0000819: Diabetes mellitus / 糖尿病
HP:0000820: Abnormality of the thyroid gland / 甲状腺异常
HP:0000821: Hypothyroidism / 甲状腺功能减退症
HP:0000822: Hypertension / 高血压
HP:0000823: Delayed puberty / 青春期发育延迟
HP:0000824: Decreased response to growth hormone stimulation test / 生长激素刺激试验反应降低
HP:0000825: Hyperinsulinemic hypoglycemia / 高胰岛素性低血糖
HP:0000826: Precocious puberty / 性早熟
HP:0000828: Abnormality of the parathyroid gland / 甲状旁腺异常
HP:0000829: Hypoparathyroidism / 甲状旁腺功能减退症
HP:0000830: Anterior hypopituitarism / 垂体前叶功能减退症
HP:0000831: Insulin-resistant diabetes mellitus / 胰岛素抵抗性糖尿病
HP:0000832: Primary hypothyroidism / 原发性甲状腺功能减退症
HP:0000834: Abnormality of the adrenal glands / 肾上腺异常
HP:0000835: Adrenal hypoplasia / 肾上腺发育不良
HP:0000836: Hyperthyroidism / 甲状腺功能亢进症
HP:0000837: Increased circulating gonadotropin level / 促性腺激素水平升高
HP:0000839: Pituitary dwarfism / 垂体性侏儒症
HP:0000840: Adrenogenital syndrome / 肾上腺性征异常综合征
HP:0000841: Hyperactive renin-angiotensin system / 肾素-血管紧张素系统亢进
HP:0000842: Hyperinsulinemia / 高胰岛素血症
HP:0000843: Hyperparathyroidism / 甲状旁腺功能亢进症
HP:0000845: Elevated circulating growth hormone concentration / 生长激素水平升高
HP:0000846: Adrenal insufficiency / 肾上腺功能不全
HP:0000847: Abnormality of renin-angiotensin system / 肾素-血管紧张素系统异常
HP:0000848: Increased circulating renin level / 血肾素水平升高
HP:0000849: Adrenocortical abnormality / 肾上腺皮质异常
HP:0000851: Congenital hypothyroidism / 先天性甲状腺功能减退症
HP:0000852: Pseudohypoparathyroidism / 假性甲状旁腺功能减退症
HP:0000853: Goiter / 甲状腺肿
HP:0000854: Thyroid adenoma / 甲状腺腺瘤
HP:0000855: Insulin resistance / 胰岛素抵抗
HP:0000857: Neonatal insulin-dependent diabetes mellitus / 新生儿胰岛素依赖性糖尿病
HP:0000858: Irregular menstruation / 月经不调
HP:0000859: Hyperaldosteronism / 醛固酮增多症
HP:0000860: Parathyroid hypoplasia / 甲状旁腺发育不全
HP:0000863: Central diabetes insipidus / 中枢性尿崩症
HP:0000864: Abnormality of the hypothalamus-pituitary axis / 下丘脑-垂体轴异常
HP:0000866: Euthyroid multinodular goiter / 甲状腺功能正常结节性甲状腺肿
HP:0000867: Secondary hyperparathyroidism / 继发性甲状旁腺功能亢进症
HP:0000868: Decreased fertility in females / 女性生育能力降低
HP:0000869: Secondary amenorrhea / 继发性闭经
HP:0000870: Increased circulating prolactin concentration / 泌乳素水平升高
HP:0000871: Panhypopituitarism / 全垂体功能减退
HP:0000872: Hashimoto thyroiditis / 桥本甲状腺炎
HP:0000873: Diabetes insipidus / 尿崩症
HP:0000875: Episodic hypertension / 阵发性高血压
HP:0000876: Oligomenorrhea / 月经稀发
HP:0000877: Insulin-resistant diabetes mellitus at puberty / 青春期胰岛素抵抗性糖尿病
HP:0000878: 11 pairs of ribs / 11对肋骨
HP:0000879: Short sternum / 短胸骨
HP:0000882: Hypoplastic scapulae / 肩胛骨发育不全
HP:0000883: Thin ribs / 瘦小肋骨
HP:0000884: Prominent sternum / 胸骨突出
HP:0000885: Broad ribs / 宽肋骨
HP:0000886: Deformed rib cage / 胸廓变形
HP:0000887: Cupped ribs / 杯状肋骨端
HP:0000888: Horizontal ribs / 横位肋骨
HP:0000889: Abnormal clavicle morphology / 锁骨形态异常
HP:0000890: Long clavicles / 长锁骨
HP:0000891: Cervical ribs / 颈肋
HP:0000892: Bifid ribs / 肋骨端分叉
HP:0000893: Bulging of the costochondral junction / 肋软骨交界处隆起
HP:0000894: Short clavicles / 短锁骨
HP:0000895: Lateral clavicle hook / 锁骨外侧钩
HP:0000896: Rib exostoses / 肋骨外生骨疣
HP:0000897: Rachitic rosary / 佝偻病念珠
HP:0000900: Thickened ribs / 肋骨增厚
HP:0000902: Rib fusion / 肋骨融合
HP:0000904: Flaring of rib cage / 喇叭状胸廓
HP:0000905: Progressive clavicular acroosteolysis / 锁骨远端进行性骨吸收
HP:0000907: Anterior rib cupping / 杯状前肋
HP:0000910: Wide-cupped costochondral junctions / 宽杯状的肋软骨交界处
HP:0000911: Flat glenoid fossa / 关节窝浅平
HP:0000912: Sprengel anomaly / 先天性肩胛骨向上移位（Sprengel畸形）
HP:0000913: Posterior rib fusion / 肋骨后端融合
HP:0000914: Shield chest / 盾状胸
HP:0000915: Pectus excavatum of inferior sternum / 下段漏斗胸
HP:0000916: Broad clavicles / 锁骨增宽
HP:0000917: Superior pectus carinatum / 上段鸡胸
HP:0000918: Scapular exostoses / 肩胛外生骨疣
HP:0000919: Abnormality of the costochondral junction / 肋软骨交界处异常
HP:0000920: Enlargement of the costochondral junction / 肋软骨交界处膨大
HP:0000921: Missing ribs / 肋骨缺失
HP:0000922: Posterior rib cupping / 杯状后肋
HP:0000923: Beaded ribs / 串珠肋
HP:0000924: Abnormality of the skeletal system / 骨骼系统异常
HP:0000925: Abnormality of the vertebral column / 脊柱异常
HP:0000926: Platyspondyly / 扁平椎
HP:0000927: Abnormality of skeletal maturation / 骨骼成熟异常
HP:0000929: Abnormal skull morphology / 颅骨形态异常
HP:0000930: Elevated imprint of the transverse sinuses / 横窦压迹抬高
HP:0000931: Thinning and bulging of the posterior fossa bones / 后颅窝骨骼变薄并突起
HP:0000932: Abnormal posterior cranial fossa morphology / 后颅窝形态异常
HP:0000933: Posterior fossa cyst at the fourth ventricle / 后颅窝第四脑室囊肿
HP:0000934: Chondrocalcinosis / 软骨钙质沉着症
HP:0000935: Thickened cortex of long bones / 长骨骨皮质增厚
HP:0000938: Osteopenia / 骨质减少
HP:0000939: Osteoporosis / 骨质疏松
HP:0000940: Abnormal diaphysis morphology / 骨干形态异常
HP:0000941: Short diaphyses / 短骨干
HP:0000943: Dysostosis multiplex / 多发性骨发育不全
HP:0000944: Abnormal metaphysis morphology / 干骺端形态异常
HP:0000946: Hypoplastic ilia / 髂骨发育不全
HP:0000947: Dumbbell-shaped long bone / 哑铃状长骨
HP:0000951: Abnormality of the skin / 皮肤异常
HP:0000952: Jaundice / 黄疸
HP:0000953: Hyperpigmentation of the skin / 皮肤色素沉着
HP:0000954: Single transverse palmar crease / 单独掌横纹
HP:0000956: Acanthosis nigricans / 黑棘皮病
HP:0000957: Cafe-au-lait spot / 牛奶咖啡斑
HP:0000958: Dry skin / 干性皮肤
HP:0000960: Sacral dimple / 骶骨浅窝
HP:0000961: Cyanosis / 紫绀
HP:0000962: Hyperkeratosis / 角化过度
HP:0000963: Thin skin / 皮肤变薄
HP:0000964: Eczema / 湿疹
HP:0000965: Cutis marmorata / 大理石样皮肤
HP:0000966: Hypohidrosis / 少汗症
HP:0000967: Petechiae / 瘀点
HP:0000968: Ectodermal dysplasia / 外胚层发育不良
HP:0000969: Edema / 水肿
HP:0000970: Anhidrosis / 无汗症
HP:0000971: Abnormal sweat gland morphology / 汗腺异常
HP:0000972: Palmoplantar hyperkeratosis / 掌跖角化
HP:0000973: Cutis laxa / 皮肤松弛症
HP:0000974: Hyperextensible skin / 皮肤过度伸展
HP:0000975: Hyperhidrosis / 多汗症
HP:0000976: Eczematoid dermatitis / 湿疹样皮炎
HP:0000977: Soft skin / 皮肤柔软
HP:0000978: Bruising susceptibility / 瘀斑易感性
HP:0000979: Purpura / 紫癜
HP:0000980: Pallor / 苍白圈
HP:0000982: Palmoplantar keratoderma / 掌跖角化症
HP:0000987: Atypical scarring of skin / 非典型皮肤瘢痕
HP:0000988: Skin rash / 皮疹
HP:0000989: Pruritus / 瘙痒
HP:0000991: Xanthomatosis / 黄瘤病
HP:0000992: Cutaneous photosensitivity / 光感性皮肤
HP:0000993: Molluscoid pseudotumors / 软假瘤
HP:0000995: Melanocytic nevus / 黑素细胞痣
HP:0000996: Facial capillary hemangioma / 面部毛细血管瘤
HP:0000997: Axillary freckling / 腋窝雀斑
HP:0000998: Hypertrichosis / 多毛症
HP:0000999: Pyoderma / 脓皮病
HP:0001000: Abnormality of skin pigmentation / 皮肤着色异常
HP:0001001: Abnormality of subcutaneous fat tissue / 皮下脂肪组织异常
HP:0001003: Multiple lentigines / 多发性雀斑样痣
HP:0001004: Lymphedema / 淋巴水肿
HP:0001005: Dermatological manifestations of systemic disorders / 系统性疾病的皮肤表现
HP:0001007: Hirsutism / 多毛症；女性多毛症
HP:0001008: Accumulation of melanosomes in melanocytes / 黑素细胞中黑素小体聚集
HP:0001009: Telangiectasia / 毛细血管扩张
HP:0001010: Hypopigmentation of the skin / 皮肤色素减退
HP:0001012: Multiple lipomas / 多发性脂肪瘤
HP:0001013: Eruptive xanthomas / 发疹性黄瘤
HP:0001014: Angiokeratoma / 血管角皮瘤
HP:0001015: Prominent superficial veins / 浅表静脉隆凸
HP:0001017: Anemic pallor / 贫血性白斑
HP:0001018: Abnormal palmar dermatoglyphics / 手掌皮纹异常
HP:0001019: Erythroderma / 剥脱性皮炎
HP:0001022: Albinism / 白化病
HP:0001024: Skin dimple over apex of long bone angulation / 长骨角顶点处的皮肤酒窝征
HP:0001025: Urticaria / 荨麻疹
HP:0001026: Penetrating foot ulcers / 足部穿通性溃疡
HP:0001027: Soft, doughy skin / 面团样柔性皮肤
HP:0001028: Hemangioma / 血管瘤
HP:0001029: Poikiloderma / 皮肤异色症
HP:0001030: Fragile skin / 敏感性皮肤
HP:0001031: Subcutaneous lipoma / 皮下脂肪瘤
HP:0001032: Absent distal interphalangeal creases / 远端指间关节皮肤皱褶缺如
HP:0001033: Facial flushing after alcohol intake / 酒后面部潮红
HP:0001034: Hypermelanotic macule / 色素沉着斑
HP:0001036: Parakeratosis / 角化不全
HP:0001038: Warfarin-induced skin necrosis / 华法林诱导性皮肤坏死
HP:0001039: Atheroeruptive xanthoma / 粥样发疹性黄瘤
HP:0001040: Multiple pterygia / 多发翼状胬肉
HP:0001041: Facial erythema / 面部红斑
HP:0001042: High axial triradius / 高位轴三角掌纹
HP:0001043: Prominent scalp veins / 头皮静脉隆凸
HP:0001045: Vitiligo / 白癜风
HP:0001046: Intermittent jaundice / 间歇性黄疸
HP:0001047: Atopic dermatitis / 特应性皮炎
HP:0001048: Cavernous hemangioma / 海绵状血管瘤
HP:0001049: Absent dorsal skin creases over affected joints / 受累关节背面皮肤皱褶缺如
HP:0001050: Plethora / 多血症（红细胞增多症）
HP:0001051: Seborrheic dermatitis / 脂溢性皮炎
HP:0001052: Nevus flammeus / 鲜红斑痣
HP:0001053: Hypopigmented skin patches / 皮肤色素减退斑
HP:0001054: Numerous nevi / 多发性色素痣
HP:0001055: Erysipelas / 丹毒
HP:0001056: Milia / 粟丘疹
HP:0001057: Aplasia cutis congenita / 先天性表皮发育不全
HP:0001058: Poor wound healing / 伤口愈合不良
HP:0001059: Pterygium / 翼状胬肉
HP:0001060: Axillary pterygium / 腋窝翼状赘肉
HP:0001061: Acne / 痤疮
HP:0001062: Atypical nevus / 非典型痣（&gt;5毫米且有不规则的边缘及色素沉着）
HP:0001063: Acrocyanosis / 手足发绀
HP:0001065: Striae distensae / 萎缩纹
HP:0001067: Neurofibromas / 神经纤维瘤
HP:0001069: Episodic hyperhidrosis / 发作性多汗症
HP:0001070: Mottled pigmentation / 斑驳病
HP:0001071: Angiokeratoma corporis diffusum / 弥漫性血管角皮瘤
HP:0001072: Thickened skin / 皮肤增厚
HP:0001073: Cigarette-paper scars / 卷烟纸样瘢痕
HP:0001074: Atypical nevi in non-sun exposed areas / 非曝露部位不典型痣
HP:0001075: Atrophic scars / 萎缩性瘢痕
HP:0001076: Glabellar hemangioma / 眉间血管瘤
HP:0001080: Biliary tract abnormality / 胆道异常
HP:0001081: Cholelithiasis / 胆石症
HP:0001082: Cholecystitis / 胆囊炎
HP:0001083: Ectopia lentis / 晶状体异位
HP:0001084: Corneal arcus / 角膜环
HP:0001085: Papilledema / 视乳头水肿
HP:0001087: Developmental glaucoma / 发育性青光眼
HP:0001088: Brushfield spots / Brushfield点
HP:0001089: Iris atrophy / 虹膜萎缩
HP:0001090: Abnormally large globe / 大眼球
HP:0001092: Absent lacrimal punctum / 泪小点缺失
HP:0001093: Optic nerve dysplasia / 视神经发育不良
HP:0001094: Iridocyclitis / 虹膜睫状体炎
HP:0001095: Hypertensive retinopathy / 高血压性视网膜病变
HP:0001096: Keratoconjunctivitis / 角膜结膜炎
HP:0001097: Keratoconjunctivitis sicca / 干燥性角结膜炎
HP:0001098: Abnormal fundus morphology / 眼底形态异常
HP:0001099: Fundus atrophy / 眼底萎缩
HP:0001100: Heterochromia iridis / 虹膜异色
HP:0001101: Iritis / 虹膜炎
HP:0001102: Angioid streaks of the fundus / 眼底血管样条纹
HP:0001103: Abnormal macular morphology / 黄斑形态异常
HP:0001104: Macular hypoplasia / 黄斑发育不良
HP:0001105: Retinal atrophy / 视网膜萎缩
HP:0001106: Periorbital hyperpigmentation / 眼眶周围色素沉着
HP:0001107: Ocular albinism / 眼白化病
HP:0001112: Leber optic atrophy / Leber视神经萎缩
HP:0001114: Xanthelasma / 睑黄瘤
HP:0001115: Posterior polar cataract / 后极性白内障
HP:0001116: Macular coloboma / 黄斑缺损
HP:0001117: Sudden loss of visual acuity / 突发性视力丧失
HP:0001118: Juvenile cataract / 青少年型白内障
HP:0001119: Keratoglobus / 球形角膜
HP:0001120: Abnormality of corneal size / 角膜大小异常
HP:0001123: Visual field defect / 视野缺损
HP:0001125: Transient unilateral blurring of vision / 一过性视物模糊
HP:0001126: Cryptophthalmos / 隐眼
HP:0001128: Trichiasis / 倒睫
HP:0001129: Large central visual field defect / 中央大视野缺损
HP:0001131: Corneal dystrophy / 角膜营养不良
HP:0001132: Lens subluxation / 晶状体半脱位
HP:0001133: Constriction of peripheral visual field / 周边性视野狭窄
HP:0001134: Anterior polar cataract / 前极白内障
HP:0001135: Chorioretinal dystrophy / 脉络膜视网膜营养不良
HP:0001136: Retinal arteriolar tortuosity / 视网膜小动脉迂曲
HP:0001137: Alternating esotropia / 交替性内斜视
HP:0001138: Optic neuropathy / 视神经病变
HP:0001139: Choroideremia / 无脉络膜症
HP:0001140: Limbal dermoid / 角膜缘皮样囊肿
HP:0001141: Severely reduced visual acuity / 视力严重下降
HP:0001142: Lenticonus / 圆锥形晶状体
HP:0001144: Orbital cyst / 眼眶囊肿
HP:0001147: Retinal exudate / 视网膜渗出
HP:0001149: Lattice corneal dystrophy / 格子样角膜营养不良
HP:0001151: Impaired horizontal smooth pursuit / 水平平滑追随眼动受损
HP:0001152: Saccadic smooth pursuit / 扫视平滑追视
HP:0001153: Septate vagina / 阴道纵膈
HP:0001155: Abnormality of the hand / 手异常
HP:0001156: Brachydactyly / 短指（趾）
HP:0001159: Syndactyly / 并指（趾）畸形
HP:0001161: Hand polydactyly / 多指
HP:0001162: Postaxial hand polydactyly / 轴后多指畸形
HP:0001166: Arachnodactyly / 细长指(趾)
HP:0001167: Abnormality of finger / 手指异常
HP:0001169: Broad palm / 宽掌
HP:0001171: Split hand / 手劈裂
HP:0001172: Abnormal thumb morphology / 拇指形态异常
HP:0001176: Large hands / 巨手
HP:0001177: Preaxial hand polydactyly / 轴前多指
HP:0001178: Ulnar claw / 尺侧爪形手
HP:0001180: Hand oligodactyly / 少指畸形
HP:0001181: Adducted thumb / 拇指内收
HP:0001182: Tapered finger / 锥形指
HP:0001187: Hyperextensibility of the finger joints / 指间关节过伸
HP:0001188: Hand clenching / 攥拳手
HP:0001191: Abnormal carpal morphology / 腕骨形态异常
HP:0001193: Ulnar deviation of the hand or of fingers of the hand / 手或手指尺侧偏斜
HP:0001194: Abnormalities of placenta or umbilical cord / 胎盘和脐带的异常
HP:0001195: Single umbilical artery / 单脐动脉
HP:0001196: Short umbilical cord / 脐带过短
HP:0001197: Abnormality of prenatal development or birth / 胎儿产前发育或出生异常
HP:0001199: Triphalangeal thumb / 三指节拇指
HP:0001204: Distal symphalangism of hands / 远端指间关节融合
HP:0001211: Abnormal fingertip morphology / 指尖形态异常
HP:0001212: Prominent fingertip pads / 指尖垫突出
HP:0001215: Camptodactyly of 2nd-5th fingers / 第二-五指屈曲
HP:0001216: Delayed ossification of carpal bones / 腕骨骨化延迟
HP:0001217: Clubbing / 杵状指
HP:0001218: Autoamputation / 自发性肢体离断
HP:0001220: Interphalangeal joint contracture of finger / 指间关节挛缩
HP:0001222: Spatulate thumbs / 匙状拇指
HP:0001223: Pointed proximal second through fifth metacarpals / 第二-五掌骨近端变尖
HP:0001225: Wrist swelling / 腕肿胀
HP:0001227: Abnormality of the thenar eminence / 大鱼际异常
HP:0001230: Broad metacarpals / 掌骨变宽
HP:0001231: Abnormal fingernail morphology / 指甲形态异常
HP:0001232: Nail bed telangiectasia / 甲床毛细血管扩张
HP:0001233: 2-3 finger syndactyly / 第二-三指并指
HP:0001234: Hitchhiker thumb / “打车手势”拇指
HP:0001238: Slender finger / 手指细长
HP:0001239: Wrist flexion contracture / 腕关节屈曲挛缩
HP:0001241: Capitate-hamate fusion / 头状骨-钩骨融合
HP:0001245: Small thenar eminence / 小鱼际小
HP:0001248: Short tubular bones of the hand / 手管状骨缩短
HP:0001249: Intellectual disability / 智力障碍
HP:0001250: Seizure / 癫痫发作
HP:0001251: Ataxia / 共济失调
HP:0001252: Hypotonia / 肌张力减退
HP:0001254: Lethargy / 昏睡
HP:0001256: Intellectual disability, mild / 轻度智力障碍
HP:0001257: Spasticity / 痉挛
HP:0001258: Spastic paraplegia / 痉挛性截瘫
HP:0001259: Coma / 昏迷
HP:0001260: Dysarthria / 构音障碍
HP:0001262: Excessive daytime somnolence / 日间睡眠增多
HP:0001263: Global developmental delay / 全面发育迟缓
HP:0001264: Spastic diplegia / 痉挛性双侧瘫痪
HP:0001265: Hyporeflexia / 腱反射减弱
HP:0001266: Choreoathetosis / 舞蹈手足徐动
HP:0001268: Mental deterioration / 智能衰退
HP:0001269: Hemiparesis / 轻偏瘫
HP:0001270: Motor delay / 运动发育迟缓
HP:0001271: Polyneuropathy / 多发性神经病
HP:0001272: Cerebellar atrophy / 小脑萎缩
HP:0001273: Abnormal corpus callosum morphology / 胼胝体形态异常
HP:0001274: Agenesis of corpus callosum / 胼胝体发育不全
HP:0001276: Hypertonia / 肌张力增高
HP:0001278: Orthostatic hypotension / 体位性低血压
HP:0001279: Syncope / 晕厥
HP:0001281: Tetany / 手足抽搐
HP:0001283: Bulbar palsy / 球麻痹
HP:0001284: Areflexia / 神经反射消失
HP:0001285: Spastic tetraparesis / 痉挛性四肢瘫
HP:0001287: Meningitis / 脑膜炎
HP:0001288: Gait disturbance / 步态不稳
HP:0001289: Confusion / 意识模糊
HP:0001290: Generalized hypotonia / 全身性肌张力减低
HP:0001291: Abnormal cranial nerve morphology / 颅神经形态异常
HP:0001293: Cranial nerve compression / 颅神经受压
HP:0001297: Stroke / 卒中
HP:0001298: Encephalopathy / 脑病
HP:0001300: Parkinsonism / 帕金森症
HP:0001301: Chronic sensorineural polyneuropathy / 慢性多发性感觉神经病
HP:0001302: Pachygyria / 巨脑回
HP:0001304: Torsion dystonia / 扭转性肌张力障碍
HP:0001305: Dandy-Walker malformation / 第四脑室孔闭塞综合征（Dandy-Walker畸形）
HP:0001308: Tongue fasciculations / 舌肌束震颤
HP:0001310: Dysmetria / 辨距不良
HP:0001311: Abnormal nervous system electrophysiology / 神经系统电生理学异常
HP:0001312: Giant somatosensory evoked potentials / 巨大的体感诱发电位
HP:0001315: Reduced tendon reflexes / 腱反射减低
HP:0001317: Abnormal cerebellum morphology / 小脑形态异常
HP:0001319: Neonatal hypotonia / 新生儿肌张力减退
HP:0001320: Cerebellar vermis hypoplasia / 小脑蚓部发育不全
HP:0001321: Cerebellar hypoplasia / 小脑发育不全
HP:0001324: Muscle weakness / 肌无力
HP:0001325: Hypoglycemic coma / 低血糖昏迷
HP:0001326: EEG with irregular generalized spike and wave complexes / 脑电图，不规则的全面性棘慢复合波
HP:0001327: Photosensitive myoclonic seizure / 光敏性肌阵挛发作
HP:0001328: Specific learning disability / 特定的学习障碍
HP:0001331: Absent septum pellucidum / 透明隔缺如
HP:0001332: Dystonia / 肌张力障碍
HP:0001334: Communicating hydrocephalus / 交通性脑积水
HP:0001335: Bimanual synkinesia / 双手联带运动
HP:0001336: Myoclonus / 肌阵挛
HP:0001337: Tremor / 震颤
HP:0001338: Partial agenesis of the corpus callosum / 局部胼胝体发育不全
HP:0001339: Lissencephaly / 无脑回畸形
HP:0001340: Enhancement of the C-reflex / C-反射增强
HP:0001341: Olfactory lobe agenesis / 嗅叶不发育
HP:0001342: Cerebral hemorrhage / 脑出血
HP:0001343: Kernicterus / 核黄疸
HP:0001344: Absent speech / 语言丧失
HP:0001345: Psychotic mentation / 精神心理状态
HP:0001347: Hyperreflexia / 反射亢进
HP:0001348: Brisk reflexes / 反射活跃
HP:0001349: Facial diplegia / 双侧面瘫
HP:0001350: Slurred speech / 言语不清
HP:0001351: Jerk-locked premyoclonus spikes / 抽动锁时的肌阵挛前棘波
HP:0001355: Megalencephaly / 巨脑
HP:0001357: Plagiocephaly / 斜头畸形
HP:0001360: Holoprosencephaly / 前脑无裂畸形
HP:0001361: Nystagmus-induced head nodding / 眼球震颤诱导点头运动
HP:0001362: Calvarial skull defect / 颅骨缺损
HP:0001363: Craniosynostosis / 颅缝早闭
HP:0001367: Abnormal joint morphology / 关节形态异常
HP:0001369: Arthritis / 关节炎
HP:0001370: Rheumatoid arthritis / 类风湿关节炎
HP:0001371: Flexion contracture / 屈曲挛缩
HP:0001373: Joint dislocation / 关节脱位
HP:0001374: Congenital hip dislocation / 先天性髋关节脱位
HP:0001376: Limitation of joint mobility / 关节活动受限
HP:0001377: Limited elbow extension / 伸肘受限
HP:0001382: Joint hypermobility / 关节过度活动
HP:0001384: Abnormal hip joint morphology / 髋关节形态异常
HP:0001385: Hip dysplasia / 髋关节发育不良
HP:0001386: Joint swelling / 关节肿胀
HP:0001387: Joint stiffness / 关节僵硬
HP:0001388: Joint laxity / 关节松弛
HP:0001392: Abnormality of the liver / 肝脏异常
HP:0001394: Cirrhosis / 肝硬化
HP:0001395: Hepatic fibrosis / 肝纤维化
HP:0001396: Cholestasis / 胆汁淤积
HP:0001397: Hepatic steatosis / 肝脂肪变性
HP:0001399: Hepatic failure / 肝功能衰竭
HP:0001401: Intrahepatic biliary dysgenesis / 肝内胆管发育不良
HP:0001402: Hepatocellular carcinoma / 肝细胞癌
HP:0001403: Macrovesicular hepatic steatosis / 大泡性肝脂肪变性
HP:0001404: Hepatocellular necrosis / 肝细胞坏死
HP:0001405: Periportal fibrosis / 门静脉周围纤维化
HP:0001406: Intrahepatic cholestasis / 肝内胆汁淤积
HP:0001407: Hepatic cysts / 肝囊肿
HP:0001408: Bile duct proliferation / 胆管增生
HP:0001409: Portal hypertension / 门脉高压
HP:0001410: Decreased liver function / 肝功能下降
HP:0001412: Enteroviral hepatitis / 肠道病毒性肝炎
HP:0001413: Micronodular cirrhosis / 小结节性肝硬化
HP:0001414: Microvesicular hepatic steatosis / 小泡性肝脂肪变性
HP:0001417: X-linked inheritance / X-连锁遗传
HP:0001419: X-linked recessive inheritance / X-连锁隐性遗传
HP:0001421: Abnormality of the musculature of the hand / 手部肌肉异常
HP:0001423: X-linked dominant inheritance / X-连锁显性遗传
HP:0001426: Multifactorial inheritance / 多因素遗传
HP:0001427: Mitochondrial inheritance / 线粒体遗传
HP:0001428: Somatic mutation / 体细胞突变
HP:0001430: Abnormality of the calf musculature / 小腿肌肉异常
HP:0001433: Hepatosplenomegaly / 肝脾肿大
HP:0001435: Abnormality of the shoulder girdle musculature / 肩胛带肌肉异常
HP:0001436: Abnormality of the foot musculature / 足部肌肉异常
HP:0001437: Abnormality of the musculature of the lower limbs / 下肢肌肉异常
HP:0001438: Abnormal abdomen morphology / 腹部形态结构异常
HP:0001440: Metatarsal synostosis / 跖骨骨性融合
HP:0001441: Abnormality of the musculature of the thigh / 大腿肌肉异常
HP:0001442: Somatic mosaicism / 体细胞嵌合
HP:0001443: Abnormality of the gluteal musculature / 臀肌异常
HP:0001444: Autosomal dominant somatic cell mutation / 常染色体显性体细胞突变
HP:0001445: Abnormality of the hip-girdle musculature / 骨盆带肌异常
HP:0001446: Abnormality of the musculature of the upper limbs / 上肢肌肉异常
HP:0001449: Duplication of metatarsal bones / 跖骨重复
HP:0001450: Y-linked inheritance / Y-连锁遗传
HP:0001454: Abnormality of the upper arm / 上臂异常
HP:0001457: Abnormality of the musculature of the upper arm / 上臂肌肉异常
HP:0001459: 1-3 toe syndactyly / 第一-三趾并趾
HP:0001460: Aplasia/Hypoplasia involving the skeletal musculature / 骨骼肌发育不良/发育不全
HP:0001464: Aplasia/Hypoplasia involving the shoulder musculature / 肩部肌肉发育不良/发育不全
HP:0001465: Amyotrophy involving the shoulder musculature / 肩部肌肉萎缩
HP:0001466: Contiguous gene syndrome / 邻近基因综合征
HP:0001467: Aplasia/Hypoplasia involving the musculature of the upper limbs / 上肢肌肉发育不良/发育不全
HP:0001468: Aplasia/Hypoplasia involving the musculature of the upper arm / 上臂肌肉发育不良/发育不全
HP:0001469: Abnormal morphology of the pelvis musculature / 骨盆肌肉组织形态异常
HP:0001470: Sex-limited expression / 限性表达
HP:0001471: Aplasia/Hypoplasia of the musculature of the pelvis / 骨盆肌肉发育不良/发育不全
HP:0001473: Metatarsal osteolysis / 跖骨溶骨
HP:0001474: Sclerotic scapulae / 肩胛骨硬化
HP:0001475: Male-limited expression / 男性限性表达
HP:0001476: Delayed closure of the anterior fontanelle / 前囟闭合延迟
HP:0001477: Compensatory chin elevation / 代偿性下巴抬高
HP:0001480: Freckling / 雀斑
HP:0001482: Subcutaneous nodule / 皮下结节
HP:0001483: Eye poking / 戳眼
HP:0001488: Bilateral ptosis / 双侧眼睑下垂
HP:0001489: Posterior vitreous detachment / 玻璃体后部脱离
HP:0001491: Congenital fibrosis of extraocular muscles / 先天性眼外肌纤维化
HP:0001492: Axenfeld anomaly / Axenfeld 综合征
HP:0001493: Falciform retinal fold / 镰状视网膜皱襞
HP:0001495: Carpal osteolysis / 腕骨溶骨
HP:0001498: Carpal bone hypoplasia / 腕骨骨发育不全
HP:0001500: Broad finger / 宽指
HP:0001501: 6 metacarpals / 6块掌骨
HP:0001504: Metacarpal osteolysis / 掌骨溶骨
HP:0001507: Growth abnormality / 生长异常
HP:0001508: Failure to thrive / 发育迟滞
HP:0001510: Growth delay / 生长延迟
HP:0001511: Intrauterine growth retardation / 胎儿宫内发育迟缓
HP:0001513: Obesity / 肥胖
HP:0001518: Small for gestational age / 小于胎龄儿
HP:0001519: Disproportionate tall stature / 不成比例的高身材
HP:0001520: Large for gestational age / 大于胎龄儿
HP:0001522: Death in infancy / 婴儿期夭折
HP:0001525: Severe failure to thrive / 严重生长障碍
HP:0001528: Hemihypertrophy / 偏身肥大
HP:0001530: Mild postnatal growth retardation / 轻度产后发育迟缓
HP:0001531: Failure to thrive in infancy / 婴儿期生长障碍
HP:0001533: Slender build / 修长的身材
HP:0001537: Umbilical hernia / 脐疝
HP:0001538: Protuberant abdomen / 腹部隆凸
HP:0001539: Omphalocele / 脐膨出
HP:0001540: Diastasis recti / 腹直肌分离
HP:0001541: Ascites / 腹水
HP:0001543: Gastroschisis / 腹裂
HP:0001544: Prominent umbilicus / 脐突出
HP:0001545: Anteriorly placed anus / 肛门前置
HP:0001547: Abnormal rib cage morphology / 胸廓形态异常
HP:0001548: Overgrowth / 过度生长
HP:0001549: Abnormal ileum morphology / 回肠形态结构异常
HP:0001551: Abnormal umbilicus morphology / 脐形态结构异常
HP:0001552: Barrel-shaped chest / 桶状胸
HP:0001555: Asymmetry of the thorax / 胸廓不对称
HP:0001557: Prenatal movement abnormality / 产前胎动异常
HP:0001558: Decreased fetal movement / 胎动减少
HP:0001560: Abnormality of the amniotic fluid / 羊水异常
HP:0001561: Polyhydramnios / 羊水过多
HP:0001562: Oligohydramnios / 羊水过少
HP:0001563: Fetal polyuria / 胎儿多尿
HP:0001566: Widely-spaced maxillary central incisors / 上颌中切牙牙间隙增宽
HP:0001571: Multiple impacted teeth / 多个阻生齿
HP:0001572: Macrodontia / 巨牙
HP:0001574: Abnormality of the integument / 体壁的异常
HP:0001579: Primary hypercortisolism / 原发性皮质醇增多症
HP:0001580: Pigmented micronodular adrenocortical disease / 色素性小结节状肾上腺皮质疾病
HP:0001581: Recurrent skin infections / 复发性皮肤感染
HP:0001582: Redundant skin / 赘肉
HP:0001583: Rotary nystagmus / 旋转眼球震颤
HP:0001586: Vesicovaginal fistula / 膀胱阴道瘘
HP:0001591: Bell-shaped thorax / 钟形胸