TaoMedAI/RareMedData huggingface dataset:
HP:0007947: Pericentral retinitis pigmentosa / 中心周围视网膜色素变性
HP:0007948: Dense posterior cortical cataract / 密集的后皮质性白内障
HP:0007950: Peripapillary chorioretinal atrophy / 乳头旁脉络膜视网膜萎缩
HP:0007957: Corneal opacity / 角膜混浊
HP:0007958: Optic atrophy from cranial nerve compression / 脑神经受压性视神经萎缩
HP:0007962: Speckled corneal dystrophy / 斑点角膜营养不良
HP:0007963: Pattern dystrophy of the retina / 视网膜区块性营养不良
HP:0007964: Degenerative vitreoretinopathy / 退行性玻璃体视网膜病
HP:0007965: Undetectable visual evoked potentials / 视觉诱发电位无波形
HP:0007968: Remnants of the hyaloid vascular system / 玻璃体血管系统残留
HP:0007970: Congenital ptosis / 先天性上睑下垂
HP:0007971: Lamellar cataract / 板层白内障
HP:0007973: Retinal dysplasia / 视网膜发育不良
HP:0007975: Hypometric horizontal saccades / 过慢扫视
HP:0007976: Cerulean cataract / 蔚蓝白内障
HP:0007979: Gaze-evoked horizontal nystagmus / 凝视诱发水平眼震
HP:0007980: Absent retinal pigment epithelium / 视网膜色素上皮缺如
HP:0007984: Electronegative electroretinogram / 视网膜电流图负波形
HP:0007985: Retinal arteriolar occlusion / 视网膜小动脉闭塞
HP:0007986: Increased retinal vascularity / 视网膜血管增多
HP:0007987: Progressive visual field defects / 进行性视野缺失
HP:0007988: Macular hypopigmentation / 黄斑色素减退
HP:0007989: Intraretinal exudate / 视网膜内的渗出液
HP:0007990: Hypoplastic iris stroma / 虹膜基质发育不全
HP:0007992: Lattice retinal degeneration / 格子样视网膜变性
HP:0007993: Malformed lacrimal duct / 泪道畸形
HP:0007994: Peripheral visual field loss / 周边视野缺失
HP:0008000: Decreased corneal reflex / 角膜反射减退
HP:0008001: Foveal hyperpigmentation / 黄斑色素沉着
HP:0008002: Abnormality of macular pigmentation / 黄斑色素沉着异常
HP:0008003: Jerky ocular pursuit movements / 急速眼追踪运动
HP:0008007: Primary congenital glaucoma / 原发性先天性青光眼
HP:0008009: Three rows of eyelashes / 三行睫
HP:0008011: Peripheral opacification of the cornea / 角膜外围混浊
HP:0008014: Central fundal arteriolar microaneurysms / 眼底中央小动脉微血管瘤
HP:0008019: Superior lens subluxation / 上方晶状体半脱位
HP:0008020: Cone dystrophy / 视锥细胞营养不良
HP:0008026: Horizontal opticokinetic nystagmus / 水平性视动性眼球震颤
HP:0008028: Cystoid macular degeneration / 黄斑囊样变性
HP:0008030: Retinal arteritis / 视网膜动脉炎
HP:0008031: Posterior Y-sutural cataract / 后Y缝白内障
HP:0008034: Abnormal iris pigmentation / 虹膜异常色素沉着
HP:0008035: Retinitis pigmentosa inversa / 反常性视网膜色素变性
HP:0008037: Absent anterior chamber of the eye / 眼前房缺如
HP:0008038: Aplastic/hypoplastic lacrimal glands / 泪腺发育缺陷/不全
HP:0008039: Subepithelial corneal opacities / 上皮下角膜混浊
HP:0008041: Late onset congenital glaucoma / 迟发性先天性青光眼
HP:0008043: Retinal arteriolar constriction / 视网膜小动脉收缩
HP:0008045: Enlarged flash visual evoked potentials / 闪光视觉诱发电位增强
HP:0008046: Abnormal retinal vascular morphology / 视网膜脉管形态异常
HP:0008047: Abnormality of the vasculature of the eye / 眼睛脉管系统异常
HP:0008048: Abnormal line of Schwalbe morphology / Schwalbe线形态异常
HP:0008049: Abnormality of the extraocular muscles / 眼外肌异常
HP:0008050: Abnormality of the palpebral fissures / 睑裂异常
HP:0008052: Retinal fold / 视网膜皱襞
HP:0008053: Aplasia/Hypoplasia of the iris / 虹膜发育缺陷/不全
HP:0008054: Abnormal morphology of the conjunctival vasculature / 结膜血管形态异常
HP:0008055: Aplasia/Hypoplasia affecting the uvea / 葡萄膜发育缺陷/不全
HP:0008056: Aplasia/Hypoplasia affecting the eye / 眼睛发育缺陷/不全
HP:0008057: Aplasia/Hypoplasia affecting the fundus / 眼底发育缺陷/不全
HP:0008058: Aplasia/Hypoplasia of the optic nerve / 视神经发育缺陷/不全
HP:0008059: Aplasia/Hypoplasia of the macula / 黄斑发育缺陷/不全
HP:0008060: Aplasia/Hypoplasia of the fovea / 黄斑中心凹发育缺陷/不全
HP:0008061: Aplasia/Hypoplasia of the retina / 视网膜发育不良/发育不全
HP:0008062: Aplasia/Hypoplasia affecting the anterior segment of the eye / 眼前节发育缺陷/不全
HP:0008063: Aplasia/Hypoplasia of the lens / 晶状体发育缺陷/不全
HP:0008064: Ichthyosis / 鱼鳞病
HP:0008065: Aplasia/Hypoplasia of the skin / 皮肤发育缺陷/不全
HP:0008066: Abnormal blistering of the skin / 皮肤的异常起疱
HP:0008067: Abnormally lax or hyperextensible skin / 皮肤异常松解或伸展过度
HP:0008069: Neoplasm of the skin / 皮肤肿瘤
HP:0008070: Sparse hair / 毛发稀疏
HP:0008071: Maternal hypertension / 妊娠期高血压疾病
HP:0008072: Maternal virilization in pregnancy / 孕期母体男性化
HP:0008073: Low maternal circulating estriol concentration / 母体循环雌三醇水平低
HP:0008074: Metatarsal periosteal thickening / 跖骨骨膜增厚
HP:0008075: Progressive pes cavus / 渐进性高足弓
HP:0008076: Osteoporotic tarsals / 跗骨骨质疏松
HP:0008078: Thin metatarsal cortices / 跖骨皮质薄
HP:0008079: Absent fifth metatarsal / 第五跖骨缺失
HP:0008080: Hallux varus / 拇趾内翻
HP:0008081: Pes valgus / 足外翻
HP:0008082: Medial deviation of the foot / 脚内侧偏斜
HP:0008083: 2nd-5th toe middle phalangeal hypoplasia / 第二-五趾中间趾骨发育不全
HP:0008087: Nonossified fifth metatarsal / 第五跖骨未骨化
HP:0008089: Abnormality of the fifth metatarsal bone / 第五跖骨异常
HP:0008090: Ankylosis of feet small joints / 足小关节强直
HP:0008093: Short 4th toe / 第四趾短
HP:0008094: Widely spaced toes / 趾间距宽
HP:0008095: Osteolysis of talus / 距骨骨溶解
HP:0008096: Medially deviated second toe / 第二趾内侧向偏斜
HP:0008097: Partial fusion of tarsals / 跗骨部分融合
HP:0008102: Expanded metatarsals with widened medullary cavities / 髓腔增宽型跖骨膨大
HP:0008103: Delayed tarsal ossification / 跗骨骨化延迟
HP:0008107: Plantar crease between first and second toes / 第一、二脚趾之间足底皱褶
HP:0008108: Advanced tarsal ossification / 跗骨骨化过早
HP:0008110: Equinovarus deformity / 马蹄内翻变形
HP:0008111: Broad distal hallux / 脚拇趾末端粗大
HP:0008112: Plantar flexion contractures / 跖屈挛缩
HP:0008113: Multiple plantar creases / 足底多褶
HP:0008114: Metatarsal diaphyseal endosteal sclerosis / 跖骨骨干骨内膜硬化
HP:0008115: Clinodactyly of the 3rd toe / 第三趾屈趾畸形
HP:0008116: Flexion limitation of toes / 脚趾屈曲限制
HP:0008117: Shortening of the talar neck / 距骨颈短缩
HP:0008119: Deformed tarsal bones / 跗骨变形
HP:0008122: Calcaneonavicular fusion / 跟舟骨融合
HP:0008124: Talipes calcaneovarus / 仰趾内翻足
HP:0008125: Second metatarsal posteriorly placed / 第2跖骨后置
HP:0008127: Bipartite calcaneus / 二分跟骨
HP:0008131: Tarsal stippling / 跗骨点状钙化
HP:0008132: Medial rotation of the medial malleolus / 内踝内旋
HP:0008133: Distal tapering of metatarsals / 跖骨远端逐渐变细
HP:0008134: Irregular tarsal ossification / 跗骨不规则骨化
HP:0008138: Equinus calcaneus / 马蹄足畸形
HP:0008141: Dislocation of toes / 脚趾脱臼
HP:0008142: Delayed calcaneal ossification / 跟骨骨化延迟
HP:0008144: Flattening of the talar dome / 扁平的距骨圆顶
HP:0008148: Impaired epinephrine-induced platelet aggregation / 肾上腺素诱导的血小板聚集障碍
HP:0008150: Elevated serum transaminases during infections / 感染期血清转氨酶升高
HP:0008151: Prolonged prothrombin time / 凝血酶原时间延长
HP:0008153: Periodic hypokalemic paresis / 低钾性周期性麻痹
HP:0008155: Mucopolysacchariduria / 粘多糖尿症
HP:0008158: Hyperapobetalipoproteinemia / 高β-载脂蛋白血症
HP:0008160: 3-hydroxydicarboxylic aciduria / 3羟基二羧酸尿症
HP:0008161: Absent leukocyte alkaline phosphatase / 白细胞碱性磷酸酶缺失
HP:0008162: Asymptomatic hyperammonemia / 无症状高氨血症
HP:0008163: Decreased circulating cortisol level / 血皮质醇水平降低
HP:0008165: Decreased helper T cell proportion / 辅助T细胞比例降低
HP:0008166: Decreased beta-galactosidase activity / β-半乳糖苷酶活性降低
HP:0008167: Very long chain fatty acid accumulation / 极长链脂肪酸堆积
HP:0008169: Reduced factor VII activity / 凝血因子VII活性减低
HP:0008176: Neonatal unconjugated hyperbilirubinemia / 新生儿高非结合胆红素血症
HP:0008178: Abnormal cartilage matrix / 软骨基质异常
HP:0008179: Decreased Arden ratio of electrooculogram / 眼电图Arden比降低
HP:0008180: Mildly elevated creatine kinase / 肌酸磷酸激酶轻度升高
HP:0008181: Abetalipoproteinemia / 无β脂蛋白血症
HP:0008182: Adrenocortical hypoplasia / 肾上腺皮质发育不全
HP:0008185: Precocious puberty in males / 男性性早熟
HP:0008186: Adrenocortical cytomegaly / 肾上腺皮质巨细胞症
HP:0008187: Absence of secondary sex characteristics / 第二性征缺乏
HP:0008188: Thyroid dysgenesis / 甲状腺发育异常
HP:0008189: Insulin insensitivity / 胰岛素不敏感
HP:0008191: Thyroid agenesis / 甲状腺缺如
HP:0008193: Primary gonadal insufficiency / 原发性性腺功能不全
HP:0008194: Multiple pancreatic beta-cell adenomas / 多发胰腺β细胞腺瘤
HP:0008197: Absence of pubertal development / 青春期发育缺失
HP:0008198: Congenital hypoparathyroidism / 先天性甲状旁腺功能减退症
HP:0008200: Primary hyperparathyroidism / 原发性甲状旁腺功能亢进症
HP:0008202: Reduced circulating prolactin concentration / 泌乳素水平下降
HP:0008204: Precocious puberty with Sertoli cell tumor / 性早熟伴睾丸支持细胞瘤
HP:0008205: Insulin-dependent but ketosis-resistant diabetes / 胰岛素依赖性非酮症性糖尿病
HP:0008207: Primary adrenal insufficiency / 原发性肾上腺功能不全
HP:0008208: Parathyroid hyperplasia / 甲状旁腺增生
HP:0008209: Premature ovarian insufficiency / 早发性卵巢功能不全
HP:0008211: Parathyroid agenesis / 甲状旁腺缺如
HP:0008213: Gonadotropin deficiency / 促性腺激素缺乏症
HP:0008214: Decreased serum estradiol / 血清雌二醇水平降低
HP:0008216: Adrenal gland dysgenesis / 肾上腺发育不全
HP:0008221: Adrenal hyperplasia / 肾上腺增生
HP:0008222: Female infertility / 女性不孕症
HP:0008223: Compensated hypothyroidism / 代偿性甲状腺功能减退症
HP:0008225: Thyroid follicular hyperplasia / 甲状腺滤泡增生
HP:0008226: Androgen insufficiency / 雄激素不足
HP:0008227: Pituitary resistance to thyroid hormone / 垂体对甲状腺激素不敏感
HP:0008229: Thyroid lymphangiectasia / 甲状腺淋巴管扩张症
HP:0008231: Macronodular adrenal hyperplasia / 大结节性肾上腺皮质增生症
HP:0008232: Elevated circulating follicle stimulating hormone level / 血液卵泡刺激素水平升高
HP:0008233: Decreased circulating progesterone / 血液孕酮水平降低
HP:0008236: Isosexual precocious puberty / 同性性早熟
HP:0008237: Hypothalamic hypothyroidism / 下丘脑性甲状腺功能减退
HP:0008239: Adrenal medullary hypoplasia / 肾上腺髓质发育不全
HP:0008240: Secondary growth hormone deficiency / 继发性生长激素缺乏症
HP:0008242: Pseudohypoaldosteronism / 假性醛固酮减少症
HP:0008244: Congenital adrenal hypoplasia / 先天性肾上腺发育不全
HP:0008245: Pituitary hypothyroidism / 垂体性甲状腺功能减退症
HP:0008247: Euthyroid hyperthyroxinemia / 甲状腺功能正常的高甲状腺素血症
HP:0008249: Thyroid hyperplasia / 甲状腺增生
HP:0008250: Infantile hypercalcemia / 婴儿高钙血症
HP:0008251: Congenital goiter / 先天性甲状腺肿
HP:0008255: Transient neonatal diabetes mellitus / 新生儿短暂性糖尿病
HP:0008256: Adrenocortical adenoma / 肾上腺皮质腺瘤
HP:0008258: Congenital adrenal hyperplasia / 先天性肾上腺增生症
HP:0008259: Adrenocorticotropin receptor defect / 促肾上腺皮质激素受体缺陷
HP:0008261: Pancreatic islet cell adenoma / 胰岛细胞腺瘤
HP:0008263: Thyroid defect in oxidation and organification of iodide / 甲状腺碘氧化和有机化缺陷
HP:0008264: Neutrophil inclusion bodies / 中性粒细胞包涵体
HP:0008265: Mitochondrial lysine transport defect / 线粒体赖氨酸转运缺陷
HP:0008269: Increased red cell hemolysis by shear stress / 剪切应力相关的红细胞溶血增加
HP:0008271: Abnormal cartilage collagen / 软骨胶原蛋白异常
HP:0008272: Renal tubular lysine transport defect / 肾小管赖氨酸转运缺陷
HP:0008273: Transient aminoaciduria / 短暂性氨基酸尿
HP:0008275: Abnormal light-adapted electroretinogram / 光适应视网膜电图异常
HP:0008277: Abnormal blood zinc concentration / 锌离子稳态平衡异常
HP:0008278: Cerebellar cortical atrophy / 小脑皮质萎缩
HP:0008279: Transient hyperlipidemia / 短暂性高脂血症
HP:0008281: Acute hyperammonemia / 急性高氨血症
HP:0008282: Unconjugated hyperbilirubinemia / 高非结合胆红素血症
HP:0008283: Fasting hyperinsulinemia / 空腹高胰岛素血症
HP:0008285: Transient hypophosphatemia / 短暂性低磷血症
HP:0008288: Nonketotic hyperglycinemia / 非酮症性高甘氨酸血症
HP:0008290: Partial complement factor H deficiency / 补体因子H部分缺陷
HP:0008291: Pituitary corticotropic cell adenoma / 垂体促肾上腺皮质激素腺瘤
HP:0008293: Long-chain dicarboxylic aciduria / 长链二羧基酸尿症
HP:0008297: Transient hyperphenylalaninemia / 短暂性高苯丙氨酸血症
HP:0008301: Dermatan sulfate excretion in urine / 尿液中硫酸皮肤素排泄
HP:0008303: Olivary degeneration / 橄榄变性
HP:0008305: Exercise-induced myoglobinuria / 运动后肌红蛋白尿
HP:0008306: Abnormal iron deposition in mitochondria / 线粒体内铁沉积异常
HP:0008309: Medium chain dicarboxylic aciduria / 中链长二羧酸尿症
HP:0008311: Spinal cord posterior columns myelin loss / 脊髓后柱髓鞘脱失
HP:0008314: Decreased activity of mitochondrial complex II / 线粒体复合物II活性降低
HP:0008315: Decreased plasma free carnitine / 血浆游离肉碱降低
HP:0008316: Abnormal mitochondria in muscle tissue / 肌肉组织中线粒体异常
HP:0008318: Elevated leukocyte alkaline phosphatase / 白细胞碱性磷酸酶活性升高
HP:0008320: Impaired collagen-induced platelet aggregation / 胶原诱导的血小板凝集障碍
HP:0008321: Reduced factor X activity / 凝血因子X活性减低
HP:0008322: Abnormal mitochondrial morphology / 线粒体形态异常
HP:0008323: Abnormal light- and dark-adapted electroretinogram / 异常的明暗适应视网膜电流图
HP:0008326: Reduced circulating vitamin B6 level / 维生素B6缺乏症
HP:0008327: Microscopic nephrocalcinosis / 肾脏微小钙质沉着症
HP:0008330: Reduced von Willebrand factor activity / 血管性血友病因子活性减低
HP:0008331: Elevated creatine kinase after exercise / 运动后肌酸激酶升高
HP:0008336: Complex organic aciduria / 复杂有机酸尿症
HP:0008338: Partial functional complement factor D deficiency / 补体因子D部分功能缺乏
HP:0008339: Diaminoaciduria / 双氨基酸尿
HP:0008341: Distal renal tubular acidosis / 远端肾小管性酸中毒
HP:0008344: Elevated plasma branched chain amino acids / 血浆支链氨基酸水平升高
HP:0008345: Hypoplasia of the iris dilator muscle / 瞳孔开大肌发育不全
HP:0008346: Increased red cell sickling tendency / 镰状红细胞增加倾向
HP:0008347: Decreased activity of mitochondrial complex IV / 线粒体复合物IV活性降低
HP:0008348: Decreased circulating IgG2 level / 循环IgG2水平降低
HP:0008352: Impaired platelet adhesion / 血小板粘附障碍
HP:0008353: Neutral hyperaminoaciduria / 中性高氨基酸尿
HP:0008354: Factor X activation deficiency / 凝血因子X活性降低
HP:0008357: Reduced factor XIII activity / 凝血因子XIII活性减低
HP:0008358: Hyperprolinemia / 高脯氨酸血症
HP:0008360: Neonatal hypoproteinemia / 新生儿低蛋白血症
HP:0008361: Corticospinal tract pallor / 皮质脊髓束苍白
HP:0008362: Aplasia/Hypoplasia of the hallux / 拇趾发育不良/发育不全
HP:0008363: Aplasia/Hypoplasia of the tarsal bones / 跗骨发育不良/发育不全
HP:0008364: Abnormality of the calcaneus / 跟骨异常
HP:0008365: Abnormal talus morphology / 距骨形态异常
HP:0008366: Foot joint contracture / 足关节挛缩
HP:0008368: Tarsal synostosis / 跗骨骨性融合
HP:0008369: Abnormal tarsal ossification / 跗骨骨化异常
HP:0008371: Abnormal metatarsal ossification / 跖骨骨化异常
HP:0008372: Abnormality of vitamin A metabolism / 维生素A代谢异常
HP:0008373: Puberty and gonadal disorders / 青春期及性腺疾病
HP:0008376: Nasal, dysarthic speech / 鼻，构音障碍
HP:0008383: Slow-growing nails / 甲生长缓慢
HP:0008386: Aplasia/Hypoplasia of the nails / 甲发育缺陷/不全
HP:0008388: Abnormal toenail morphology / 趾甲形态异常
HP:0008390: Recurrent loss of toenails and fingernails / 指（趾）甲反复脱落
HP:0008391: Dystrophic fingernails / 指甲营养不良
HP:0008392: Subungual hyperkeratosis / 甲下角化过度
HP:0008393: Congenital curved nail of fourth toe / 先天性第4趾甲弯曲
HP:0008394: Congenital onychodystrophy / 先天性甲营养不良
HP:0008396: Chronic monilial nail infection / 慢性念珠菌性甲感染
HP:0008398: Hypoplastic fifth fingernail / 第5指甲发育不良
HP:0008399: Circumungual hyperkeratosis / 甲周皮肤角化过度
HP:0008400: Onycholysis of distal fingernails / 指甲末端甲分离
HP:0008401: Onychogryposis of toenails / 趾甲弯曲
HP:0008402: Ridged fingernail / 指甲纵嵴
HP:0008404: Nail dystrophy / 甲营养不良
HP:0008407: Hyperconvex thumb nails / 拇指甲面异常凸起
HP:0008410: Subungual hyperkeratotic fragments / 甲下片状角化过度
HP:0008414: Lumbar kyphosis in infancy / 婴儿期腰椎后凸
HP:0008416: Six lumbar vertebrae / 六块腰椎
HP:0008417: Vertebral hypoplasia / 椎体发育不全
HP:0008418: Squared-off platyspondyly / 方形扁平椎
HP:0008419: Intervertebral disc degeneration / 椎间盘退行性变
HP:0008420: Punctate vertebral calcifications / 椎体点状钙化
HP:0008421: Tall lumbar vertebral bodies / 腰椎椎体的高度增加
HP:0008422: Vertebral wedging / 椎体楔形变
HP:0008423: Spinal dysplasia / 脊柱发育不良
HP:0008424: Hypoplastic 5th lumbar vertebrae / 第五腰椎发育不良
HP:0008425: Cuboid-shaped thoracolumbar vertebral bodies / 胸腰椎椎体呈长方体状
HP:0008428: Vertebral clefting / 椎体裂
HP:0008430: Anterior beaking of lumbar vertebrae / 腰椎前缘鸟喙样凸出
HP:0008432: Anterior wedging of L1 / 腰1椎体前侧楔形
HP:0008433: Reversed usual vertebral column curves / 脊柱反向弯曲
HP:0008434: Hypoplastic cervical vertebrae / 颈椎发育不良
HP:0008435: Absent in utero ossification of vertebral bodies / 在子宫内椎体未发生骨化
HP:0008436: Absent/hypoplastic coccyx / 尾骨缺如或发育不良
HP:0008437: Bifid thoracic vertebrae / 胸椎纵裂
HP:0008438: Vertebral arch anomaly / 椎弓异常
HP:0008439: Lumbar hemivertebrae / 腰椎半椎体
HP:0008440: C1-C2 vertebral abnormality / C1-C2寰枢椎椎体异常
HP:0008441: Herniation of intervertebral nuclei / 椎间盘髓核疝出
HP:0008442: Vertebral hyperostosis / 椎体骨质增生
HP:0008443: Neuropathic spinal arthropathy / 神经性脊柱关节病
HP:0008444: Posterior wedging of vertebral bodies / 椎体后侧楔形
HP:0008445: Cervical spinal canal stenosis / 颈椎椎管狭窄
HP:0008447: Hypoplastic coccygeal vertebrae / 尾骨发育不良
HP:0008449: Progressive cervical vertebral spine fusion / 进行性颈椎融合
HP:0008450: Narrow vertebral interpedicular distance / 椎弓根间隙变窄
HP:0008451: Posterior vertebral hypoplasia / 后脊椎发育不良
HP:0008452: Wafer-thin platyspondyly / 极薄的扁平椎体
HP:0008453: Congenital kyphoscoliosis / 先天性脊柱后侧凸畸形
HP:0008454: Lumbar kyphosis / 腰椎后凸
HP:0008455: Dysplastic sacrum / 骶骨发育不良
HP:0008456: C2-C3 subluxation / C2-C3椎体半脱位
HP:0008457: Caudal interpedicular narrowing / 尾骨椎弓根狭窄
HP:0008458: Progressive congenital scoliosis / 进行性先天性脊柱侧凸
HP:0008459: Cervical vertebral agenesis / 颈椎发育不全
HP:0008460: Hypoplastic spinal processes / 棘突发育不良
HP:0008461: Cervical vertebral facet hypoplasia / 颈椎关节突发育不良
HP:0008462: Cervical instability / 颈椎不稳
HP:0008463: Central vertebral hypoplasia / 环椎发育不良
HP:0008464: Absent spinous processes of lower thoracic and lumbar vertebrae / 下部胸椎和腰椎的棘突缺如
HP:0008465: Absent vertebra / 椎体缺如
HP:0008467: Thoracic hemivertebrae / 胸椎半椎体
HP:0008468: Abnormal sacral segmentation / 骶骨分节异常
HP:0008469: Cervical vertebral dysplasia / 颈椎发育不良
HP:0008470: Lower thoracic interpediculate narrowness / 下段胸椎弓根间隙狭窄
HP:0008472: Prominent protruding coccyx / 尾骨突出
HP:0008473: Narrow anterio-posterior vertebral body diameter / 椎体前后径狭窄
HP:0008475: Hypoplastic sacral vertebrae / 骶椎发育不良
HP:0008476: Irregular sclerotic endplates / 不规则硬化终板
HP:0008477: Poorly ossified cervical vertebrae / 颈椎骨化不良
HP:0008478: Scheuermann-like vertebral changes / Scheuermann样椎体改变
HP:0008479: Hypoplastic vertebral bodies / 椎体发育不良
HP:0008480: Cervical spondylosis / 颈椎病
HP:0008482: Asymmetry of spinal facet joints / 脊柱小关节不对称
HP:0008483: Cervical vertebral bodies with decreased anteroposterior diameter / 颈椎椎体前后径减少
HP:0008484: Thoracolumbar interpediculate narrowness / 胸腰椎弓根间隙狭窄
HP:0008486: Lumbar interpedicular narrowing / 腰椎弓根间隙缩窄
HP:0008488: Anterior rounding of vertebral bodies / 椎体前侧变圆
HP:0008489: Spondylolisthesis at L5-S1 / L5-S1腰椎滑脱
HP:0008490: Sacral segmentation defect / 骶骨分节缺陷
HP:0008491: Premature anterior fontanel closure / 前囟过早闭合
HP:0008494: Inferior lens subluxation / 晶状体下部半脱位
HP:0008496: Multiple rows of eyelashes / 多行睫
HP:0008497: Congenital craniofacial dysostosis / 先天性颅面骨发育不全
HP:0008498: No permanent dentition / 无恒牙
HP:0008499: High hypermetropia / 高度远视
HP:0008501: Median cleft lip and palate / 唇腭正中裂
HP:0008504: Moderate sensorineural hearing impairment / 中度感音神经性听力损失
HP:0008507: Static ophthalmoparesis / 静态眼肌瘫痪
HP:0008509: Aged leonine appearance / 衰老的狮面面容
HP:0008511: Central posterior corneal opacity / 中央后角膜混浊
HP:0008513: Bilateral conductive hearing impairment / 双侧传导性听觉障碍
HP:0008515: Aplasia/Hypoplasia of the vertebrae / 椎体发育不良/发育不全
HP:0008516: Abnormality of the vertebral spinous processes / 椎体棘突异常
HP:0008517: Aplasia/Hypoplasia of the sacrum / 骶骨发育不良/发育不全
HP:0008518: Aplasia/Hypoplasia involving the vertebral column / 脊柱发育不良/发育不全
HP:0008519: Abnormal coccyx morphology / 尾骨形态异常
HP:0008523: Posterior helix pit / 耳轮后凹陷
HP:0008527: Congenital sensorineural hearing impairment / 先天性感音神经性听力障碍
HP:0008528: Long hairs growing from helix of pinna / 耳轮毛发过长
HP:0008529: Absence of acoustic reflex / 声反射缺失
HP:0008537: Cleft at the superior portion of the pinna / 上部耳廓裂
HP:0008541: Superiorly displaced ears / 优势替代耳
HP:0008542: Low-frequency hearing loss / 低频听力损失
HP:0008544: Abnormally folded helix / 耳轮卷曲异常
HP:0008551: Microtia / 小耳畸形
HP:0008554: Cochlear malformation / 耳蜗畸形
HP:0008555: Absent vestibular function / 前庭功能缺失
HP:0008559: Hypoplastic superior helix / 耳轮上部发育不全
HP:0008568: Vestibular areflexia / 前庭反射消失
HP:0008569: Microtia, second degree / 小耳畸形，2级
HP:0008572: External ear malformation / 外耳畸形
HP:0008573: Low-frequency sensorineural hearing impairment / 低频感音神经性听力障碍
HP:0008577: Underfolded helix / 耳轮卷曲减少
HP:0008583: Underfolded superior helices / 耳轮上部卷曲减少
HP:0008586: Hypoplasia of the cochlea / 耳蜗发育不全
HP:0008587: Mild neurosensory hearing impairment / 轻度感音神经性听力损失
HP:0008588: Slit-like opening of the exterior auditory meatus / 外耳道隙状开口
HP:0008589: Hypoplastic helices / 耳轮发育不全
HP:0008591: Congenital conductive hearing impairment / 先天性传导性听力障碍
HP:0008593: Prominent antitragus / 对耳屏突出
HP:0008596: Postlingual sensorineural hearing impairment / 学语后感音神经性听力损失
HP:0008598: Mild conductive hearing impairment / 轻度传导性听力损失
HP:0008605: Unilateral external ear deformity / 单侧外耳畸形
HP:0008606: Supraauricular pit / 耳前瘘管
HP:0008607: Progressive conductive hearing impairment / 渐进性传导性听力损失
HP:0008608: Hypertrophic auricular cartilage / 耳廓软骨肥大
HP:0008609: Morphological abnormality of the middle ear / 中耳形态异常
HP:0008610: Infantile sensorineural hearing impairment / 婴幼儿感音神经性听力损失
HP:0008615: Adult onset sensorineural hearing impairment / 成人感觉神经性听力障碍
HP:0008619: Bilateral sensorineural hearing impairment / 双侧感音神经性听觉障碍
HP:0008625: Severe sensorineural hearing impairment / 重度感音神经性耳聋
HP:0008628: Abnormality of the stapes / 镫骨异常
HP:0008629: Pulsatile tinnitus / 搏动性耳鸣
HP:0008631: Ureteral dysgenesis / 输尿管发育不良
HP:0008633: Agonadism / 无性腺症
HP:0008635: Hypertrophy of the urinary bladder / 膀胱肥大
HP:0008636: Lobular glomerulopathy / 小叶性肾小球肾炎
HP:0008639: Gonadal hypoplasia / 性腺发育不良
HP:0008640: Congenital macroorchidism / 先天性大睾丸
HP:0008643: Nephroblastomatosis / 肾母细胞瘤病
HP:0008647: Pubertal developmental failure in females / 女性青春期性发育障碍
HP:0008648: Anteriorly displaced urethral meatus / 尿道口向前移位
HP:0008651: Uric acid urolithiasis independent of gout / 非痛风引起的尿路尿酸结石
HP:0008652: Autonomic erectile dysfunction / 自主性勃起功能障碍
HP:0008653: Crescentic glomerulonephritis / 新月体肾小球肾炎
HP:0008655: Aplasia/Hypoplasia of the fallopian tube / 输卵管发育不全/发育不良
HP:0008656: Incomplete male pseudohermaphroditism / 不完全型男性假两性畸形
HP:0008659: Multiple small medullary renal cysts / 多发性肾髓质小囊肿
HP:0008660: Renotubular dysgenesis / 肾小管发育不全
HP:0008661: Urethral stenosis / 尿道狭窄
HP:0008663: Renal sarcoma / 肾肉瘤
HP:0008664: Urethral sphincter sclerosis / 尿道括约肌硬化症
HP:0008665: Clitoral hypertrophy / 阴蒂肥大
HP:0008666: Impaired histidine renal tubular absorption / 肾小管组氨酸吸收障碍
HP:0008668: Gonadal dysgenesis, male / 男性性腺发育不良
HP:0008669: Abnormal spermatogenesis / 生精异常
HP:0008670: Partial vaginal septum / 部分型阴道膈
HP:0008672: Calcium oxalate nephrolithiasis / 草酸钙肾结石
HP:0008675: Enlarged polycystic ovaries / 增大的多囊卵巢
HP:0008676: Congenital megaureter / 先天性巨输尿管症
HP:0008677: Congenital nephrotic syndrome / 先天性肾病综合征
HP:0008678: Renal hypoplasia/aplasia / 肾发育不良/不全
HP:0008682: Renal tubular epithelial necrosis / 肾小管上皮细胞坏死
HP:0008683: Enlarged labia minora / 小阴唇增大
HP:0008684: Aplasia/hypoplasia of the uterus / 子宫发育不全/发育不良
HP:0008687: Hypoplasia of the prostate / 前列腺发育不良
HP:0008689: Bilateral cryptorchidism / 双侧隐睾
HP:0008691: Solitary bladder diverticulum / 孤立的膀胱憩室
HP:0008695: Transient nephrotic syndrome / 瞬态肾病综合征
HP:0008696: Renal hamartoma / 肾错构瘤
HP:0008697: Hypoplasia of the fallopian tube / 输卵管发育不良
HP:0008702: Absent internal genitalia / 内生殖器缺如
HP:0008703: Gonadal calcification / 性腺钙化
HP:0008705: Ureteral triplication / 三重输尿管
HP:0008706: Distal urethral duplication / 远端尿道重复畸形
HP:0008707: Absent scrotum / 阴囊缺如
HP:0008708: Partial development of the penile shaft / 局部阴茎体发育
HP:0008711: Benign prostatic hyperplasia / 前列腺良性增生
HP:0008714: Ureterovesical stenosis / 输尿管膀胱交界处狭窄
HP:0008715: Testicular dysgenesis / 睾丸发育不全
HP:0008716: Urethrovaginal fistula / 尿道阴道瘘
HP:0008717: Unilateral renal atrophy / 单侧肾萎缩
HP:0008718: Unilateral renal dysplasia / 单侧肾发育不良
HP:0008720: Primary testicular failure / 原发性睾丸功能衰竭
HP:0008722: Urethral diverticulum / 尿道憩室
HP:0008723: Gonadal dysgenesis with female appearance, male / 男性性腺发育不全，女性外表
HP:0008724: Hypoplasia of the ovary / 卵巢发育不良
HP:0008726: Hypoplasia of the vagina / 阴道发育不良
HP:0008729: Absence of labia majora / 大阴唇缺如
HP:0008730: Female external genitalia in individual with 46,XY karyotype / 染色体核型为46,XY的个体具有女性外生殖器
HP:0008732: Renal hypophosphatemia / 肾性低磷血症
HP:0008733: Dysplastic testes / 睾丸发育不良
HP:0008734: Decreased testicular size / 睾丸体积过小
HP:0008736: Hypoplasia of penis / 阴茎发育不良
HP:0008738: Partially duplicated kidney / 部分性重复肾
HP:0008739: Labial pseudohypertrophy / 阴唇假性肥厚
HP:0008740: Longitudinal vaginal septum / 阴道纵膈
HP:0008742: Prominent prostate median bar / 前列腺正中脊突出
HP:0008743: Coronal hypospadias / 冠状沟型尿道下裂
HP:0008744: Abnormal aryepiglottic fold morphology / 杓会厌皱襞形态异常
HP:0008747: Cartilaginous ossification of larynx / 喉软骨骨化
HP:0008749: Laryngeal hypoplasia / 喉发育不全
HP:0008750: Laryngeal atresia / 喉闭锁
HP:0008751: Laryngeal cleft / 喉裂
HP:0008752: Laryngeal cartilage malformation / 喉软骨畸形
HP:0008753: Aplasia of the epiglottis / 会厌发育不全
HP:0008754: Laryngeal calcification / 喉钙化
HP:0008755: Laryngotracheomalacia / 喉气管软化
HP:0008756: Bowing of the vocal cords / 声带弯曲
HP:0008757: Unilateral vocal cord paralysis / 单侧声带麻痹
HP:0008760: Violent behavior / 暴力行为
HP:0008762: Repetitive compulsive behavior / 重复强迫行为
HP:0008763: No social interaction / 无社会交往
HP:0008765: Auditory hallucinations / 幻听