TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:95513):
Infundibulo-panhypophysitis
Panhypophysitis

Associated phenotypes (HPO):
id: HP:0000863
hpo_term: Central diabetes insipidus
chpo_term: 中枢性尿崩症
id: HP:0000871
hpo_term: Panhypopituitarism
chpo_term: 全垂体功能减退
id: HP:0011751
hpo_term: Abnormality of the posterior pituitary
chpo_term: 垂体后叶异常
id: HP:0000141
hpo_term: Amenorrhea
chpo_term: 闭经
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0000802
hpo_term: Impotence
chpo_term: 阳痿
id: HP:0000870
hpo_term: Increased circulating prolactin concentration
chpo_term: 泌乳素水平升高
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001278
hpo_term: Orthostatic hypotension
chpo_term: 体位性低血压
id: HP:0001895
hpo_term: Normochromic anemia
chpo_term: 正色素性贫血
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0003158
hpo_term: Hyposthenuria
chpo_term: 低渗尿
id: HP:0007987
hpo_term: Progressive visual field defects
chpo_term: 进行性视野缺失
id: HP:0008163
hpo_term: Decreased circulating cortisol level
chpo_term: 血皮质醇水平降低
id: HP:0008213
hpo_term: Gonadotropin deficiency
chpo_term: 促性腺激素缺乏症
id: HP:0008214
hpo_term: Decreased serum estradiol
chpo_term: 血清雌二醇水平降低
id: HP:0008240
hpo_term: Secondary growth hormone deficiency
chpo_term: 继发性生长激素缺乏症
id: HP:0008245
hpo_term: Pituitary hypothyroidism
chpo_term: 垂体性甲状腺功能减退症
id: HP:0011735
hpo_term: Adrenocorticotropin deficient adrenal insufficiency
chpo_term: 促肾上腺皮质激素缺陷性肾上腺功能不全
id: HP:0011748
hpo_term: Adrenocorticotropic hormone deficiency
chpo_term: 促肾上腺皮质激素不足
id: HP:0012504
hpo_term: Abnormal size of pituitary gland
chpo_term: 脑垂体大小异常
id: HP:0012696
hpo_term: Abnormal thalamic MRI signal intensity
chpo_term: 丘脑核磁共振信号强度异常
id: HP:0030018
hpo_term: Decreased female libido
chpo_term: 女性性欲降低
id: HP:0040171
hpo_term: Decreased serum testosterone concentration
chpo_term: 血清睾酮水平降低
id: HP:0040306
hpo_term: Decreased male libido
chpo_term: 男性性欲低下
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000872
hpo_term: Hashimoto thyroiditis
chpo_term: 桥本甲状腺炎
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0007041
hpo_term: Chronic lymphocytic meningitis
chpo_term: 慢性淋巴细胞性脑膜炎
id: HP:0008202
hpo_term: Reduced circulating prolactin concentration
chpo_term: 泌乳素水平下降
Disease (ORPHA:2872):
Pfeiffer-Singer-Zschiesche syndrome
Cardiocranial syndrome, Pfeiffer type
Craniosynostosis-congenital heart disease-intellectual disability syndrome

Associated phenotypes (HPO):
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0001238
hpo_term: Slender finger
chpo_term: 手指细长
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0004442
hpo_term: Sagittal craniosynostosis
chpo_term: 矢状缝早闭
id: HP:0012478
hpo_term: Temporomandibular joint ankylosis
chpo_term: 颞下颌关节强直
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000289
hpo_term: Broad philtrum
chpo_term: 宽人中
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0002778
hpo_term: Abnormal tracheal morphology
chpo_term: 气管形态异常
id: HP:0002876
hpo_term: Episodic tachypnea
chpo_term: 阵发性呼吸急促
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006191
hpo_term: Deep palmar crease
chpo_term: 掌褶纹深
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0008112
hpo_term: Plantar flexion contractures
chpo_term: 跖屈挛缩
id: HP:0009540
hpo_term: Contracture of the proximal interphalangeal joint of the 2nd finger
chpo_term: 第二指的近节指骨间关节挛缩
id: HP:0010487
hpo_term: Small hypothenar eminence
chpo_term: 小鱼际小
id: HP:0010621
hpo_term: Cutaneous syndactyly of toes
chpo_term: 脚趾皮肤性并趾
id: HP:0010721
hpo_term: Abnormal hair whorl
chpo_term: 毛发异常旋涡式生长
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
Disease (ORPHA:1547):
Tonoki-Ohura-Niikawa syndrome
Cryptomicrotia-brachydactyly syndrome
Cryptomicrotia-brachydactyly-excess fingertip arch syndrome

Associated phenotypes (HPO):
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0001480
hpo_term: Freckling
chpo_term: 雀斑
id: HP:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
id: HP:0005872
hpo_term: Brachytelomesophalangy
chpo_term: 中远节指（趾）骨缩短
id: HP:0007477
hpo_term: Abnormal dermatoglyphics
chpo_term: 皮纹异常
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
Disease (ORPHA:1546):
Cryptococcosis

Associated phenotypes (HPO):
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0025392
hpo_term: Nodular pattern on pulmonary HRCT
chpo_term: HRCT可见肺部结节状结构
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0002725
hpo_term: Systemic lupus erythematosus
chpo_term: 系统性红斑狼疮
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003690
hpo_term: Limb muscle weakness
chpo_term: 四肢肌肉无力
id: HP:0031179
hpo_term: Nuchal rigidity
chpo_term: 颈部僵硬
id: HP:0100721
hpo_term: Mediastinal lymphadenopathy
chpo_term: 纵膈淋巴结病
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0000024
hpo_term: Prostatitis
chpo_term: 前列腺炎
id: HP:0000356
hpo_term: Abnormality of the outer ear
chpo_term: 外耳异常
id: HP:0000479
hpo_term: Abnormal retinal morphology
chpo_term: 视网膜形态异常
id: HP:0000587
hpo_term: Abnormality of the optic nerve
chpo_term: 视神经异常
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001291
hpo_term: Abnormal cranial nerve morphology
chpo_term: 颅神经形态异常
id: HP:0002181
hpo_term: Cerebral edema
chpo_term: 脑水肿
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002586
hpo_term: Peritonitis
chpo_term: 腹膜炎
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0005526
hpo_term: Lymphoid leukemia
chpo_term: 淋巴细胞白血病
id: HP:0011531
hpo_term: Vitritis
chpo_term: 玻璃体炎
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
Disease (ORPHA:2874):
Phakomatosis pigmentokeratotica

Associated phenotypes (HPO):
id: HP:0010817
hpo_term: Linear nevus sebaceous
chpo_term: 线状皮脂腺痣
id: HP:0025510
hpo_term: Nevus spilus
chpo_term: 斑痣
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0002671
hpo_term: Basal cell carcinoma
chpo_term: 基底细胞癌
id: HP:0002859
hpo_term: Rhabdomyosarcoma
chpo_term: 横纹肌肉瘤
id: HP:0004912
hpo_term: Hypophosphatemic rickets
chpo_term: 低磷性佝偻病
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0100556
hpo_term: Hemiatrophy
chpo_term: 偏侧萎缩
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0001028
hpo_term: Hemangioma
chpo_term: 血管瘤
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001528
hpo_term: Hemihypertrophy
chpo_term: 偏身肥大
id: HP:0002232
hpo_term: Patchy alopecia
chpo_term: 片形脱发，鬼剃头
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0002666
hpo_term: Pheochromocytoma
chpo_term: 嗜铬细胞瘤
id: HP:0002667
hpo_term: Nephroblastoma
chpo_term: 肾母细胞瘤
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012056
hpo_term: Cutaneous melanoma
chpo_term: 皮肤黑色素瘤
id: HP:0012583
hpo_term: Unilateral renal hypoplasia
chpo_term: 单侧肾发育不良
id: HP:0030409
hpo_term: Renal transitional cell carcinoma
chpo_term: 肾移行细胞癌
id: HP:0030880
hpo_term: Raynaud phenomenon
chpo_term: 雷诺现象
id: HP:0100702
hpo_term: Arachnoid cyst
chpo_term: 蛛网膜囊肿
id: HP:0100814
hpo_term: Blue nevus
chpo_term: 蓝痣
id: HP:0100963
hpo_term: Hyperesthesia
chpo_term: 感觉过敏
Disease (ORPHA:1545):
Crisponi syndrome

Associated phenotypes (HPO):
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
id: HP:0002047
hpo_term: Malignant hyperthermia
chpo_term: 恶性高热
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0100729
hpo_term: Large face
chpo_term: 大脸
Disease (ORPHA:2875):
Phakomatosis pigmentovascularis

Associated phenotypes (HPO):
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0001052
hpo_term: Nevus flammeus
chpo_term: 鲜红斑痣
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0007440
hpo_term: Generalized hyperpigmentation
chpo_term: 泛发性色素沉着
id: HP:0100026
hpo_term: Arteriovenous malformation
chpo_term: 动静脉畸形
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:95512):
Adenohypophysitis
Anterior pituitary hypophysitis

Associated phenotypes (HPO):
id: HP:0000871
hpo_term: Panhypopituitarism
chpo_term: 全垂体功能减退
id: HP:0000141
hpo_term: Amenorrhea
chpo_term: 闭经
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0000802
hpo_term: Impotence
chpo_term: 阳痿
id: HP:0000870
hpo_term: Increased circulating prolactin concentration
chpo_term: 泌乳素水平升高
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001278
hpo_term: Orthostatic hypotension
chpo_term: 体位性低血压
id: HP:0001895
hpo_term: Normochromic anemia
chpo_term: 正色素性贫血
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0003158
hpo_term: Hyposthenuria
chpo_term: 低渗尿
id: HP:0007987
hpo_term: Progressive visual field defects
chpo_term: 进行性视野缺失
id: HP:0008163
hpo_term: Decreased circulating cortisol level
chpo_term: 血皮质醇水平降低
id: HP:0008213
hpo_term: Gonadotropin deficiency
chpo_term: 促性腺激素缺乏症
id: HP:0008214
hpo_term: Decreased serum estradiol
chpo_term: 血清雌二醇水平降低
id: HP:0008240
hpo_term: Secondary growth hormone deficiency
chpo_term: 继发性生长激素缺乏症
id: HP:0008245
hpo_term: Pituitary hypothyroidism
chpo_term: 垂体性甲状腺功能减退症
id: HP:0011735
hpo_term: Adrenocorticotropin deficient adrenal insufficiency
chpo_term: 促肾上腺皮质激素缺陷性肾上腺功能不全
id: HP:0011748
hpo_term: Adrenocorticotropic hormone deficiency
chpo_term: 促肾上腺皮质激素不足
id: HP:0012504
hpo_term: Abnormal size of pituitary gland
chpo_term: 脑垂体大小异常
id: HP:0012696
hpo_term: Abnormal thalamic MRI signal intensity
chpo_term: 丘脑核磁共振信号强度异常
id: HP:0030018
hpo_term: Decreased female libido
chpo_term: 女性性欲降低
id: HP:0040171
hpo_term: Decreased serum testosterone concentration
chpo_term: 血清睾酮水平降低
id: HP:0040306
hpo_term: Decreased male libido
chpo_term: 男性性欲低下
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000872
hpo_term: Hashimoto thyroiditis
chpo_term: 桥本甲状腺炎
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0007041
hpo_term: Chronic lymphocytic meningitis
chpo_term: 慢性淋巴细胞性脑膜炎
id: HP:0008202
hpo_term: Reduced circulating prolactin concentration
chpo_term: 泌乳素水平下降
Disease (ORPHA:401840):
SPG71
Autosomal recessive spastic paraplegia type 71

Associated phenotypes (HPO):
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002378
hpo_term: Hand tremor
chpo_term: 手部震颤
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0007020
hpo_term: Progressive spastic paraplegia
chpo_term: 进行性痉挛性截瘫
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0012447
hpo_term: Abnormal myelination
chpo_term: 髓鞘异常
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
Disease (ORPHA:401849):
SPG72
Autosomal spastic paraplegia type 72

Associated phenotypes (HPO):
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002839
hpo_term: Urinary bladder sphincter dysfunction
chpo_term: 膀胱括约肌功能障碍
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0006938
hpo_term: Impaired vibration sensation at ankles
chpo_term: 脚踝振动觉障碍
id: HP:0011446
hpo_term: Abnormality of higher mental function
chpo_term: 高级精神功能异常
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
Disease (ORPHA:306511):
SPG48
Autosomal recessive spastic paraplegia type 48

Associated phenotypes (HPO):
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0007020
hpo_term: Progressive spastic paraplegia
chpo_term: 进行性痉挛性截瘫
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002839
hpo_term: Urinary bladder sphincter dysfunction
chpo_term: 膀胱括约肌功能障碍
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003319
hpo_term: Abnormality of the cervical spine
chpo_term: 颈椎异常
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0030890
hpo_term: Hyperintensity of cerebral white matter on MRI
chpo_term: MRI脑白质高信号
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
Disease (ORPHA:2865):
Short stature-webbed neck-heart disease syndrome
Al Gazali-Aziz-Salem syndrome

Associated phenotypes (HPO):
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0011354
hpo_term: Generalized abnormality of skin
chpo_term: 泛发性皮肤异常
Disease (ORPHA:1532):
Gómez-López-Hernández syndrome
Cerebellotrigeminal-dermal dysplasia syndrome
Craniosynostosis-alopecia-brain defect syndrome

Associated phenotypes (HPO):
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000262
hpo_term: Turricephaly
chpo_term: 尖头畸形
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001317
hpo_term: Abnormal cerebellum morphology
chpo_term: 小脑形态异常
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0002293
hpo_term: Alopecia of scalp
chpo_term: 头皮脱发
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002363
hpo_term: Abnormal brainstem morphology
chpo_term: 脑干形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0100797
hpo_term: Toenail dysplasia
chpo_term: 趾甲发育不良
Disease (ORPHA:2866):
Thong-Douglas-Ferrante syndrome
Short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome
Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0002300
hpo_term: Mutism
chpo_term: 缄默症
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004397
hpo_term: Ectopic anus
chpo_term: 肛门异位
id: HP:0010978
hpo_term: Abnormality of immune system physiology
chpo_term: 免疫系统功能异常
Disease (ORPHA:2867):
Mievis-Verellen-Dumoulin syndrome
Short stature, Brussels type

Associated phenotypes (HPO):
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0002663
hpo_term: Delayed epiphyseal ossification
chpo_term: 骨骺骨化延迟
id: HP:0100593
hpo_term: Calcification of cartilage
chpo_term: 软骨钙化
Disease (ORPHA:2868):
Short stature-valvular heart disease-characteristic facies syndrome

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001654
hpo_term: Abnormal heart valve morphology
chpo_term: 心脏瓣膜形态异常
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0003498
hpo_term: Disproportionate short stature
chpo_term: 不成比例的身材矮小
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0100729
hpo_term: Large face
chpo_term: 大脸
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
Disease (ORPHA:2869):
Peutz-Jeghers syndrome
Hamartomatous intestinal polyposis
PJS

Associated phenotypes (HPO):
id: HP:0000069
hpo_term: Abnormality of the ureter
chpo_term: 输尿管异常
id: HP:0000366
hpo_term: Abnormality of the nose
chpo_term: 鼻异常
id: HP:0001003
hpo_term: Multiple lentigines
chpo_term: 多发性雀斑样痣
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002035
hpo_term: Rectal prolapse
chpo_term: 直肠脱垂
id: HP:0002086
hpo_term: Abnormality of the respiratory system
chpo_term: 呼吸系统异常
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0002672
hpo_term: Gastrointestinal carcinoma
chpo_term: 胃肠道癌
id: HP:0003002
hpo_term: Breast carcinoma
chpo_term: 乳腺癌
id: HP:0005214
hpo_term: Intestinal obstruction
chpo_term: 肠梗阻
id: HP:0005244
hpo_term: Gastrointestinal infarctions
chpo_term: 胃肠道梗塞
id: HP:0005264
hpo_term: Abnormality of the gallbladder
chpo_term: 胆囊异常
id: HP:0005562
hpo_term: Multiple renal cysts
chpo_term: 多发性肾囊肿
id: HP:0005584
hpo_term: Renal cell carcinoma
chpo_term: 肾细胞癌
id: HP:0006725
hpo_term: Pancreatic adenocarcinoma
chpo_term: 胰腺腺癌
id: HP:0008675
hpo_term: Enlarged polycystic ovaries
chpo_term: 增大的多囊卵巢
id: HP:0011024
hpo_term: Abnormality of the gastrointestinal tract
chpo_term: 胃肠道异常
id: HP:0012126
hpo_term: Stomach cancer
chpo_term: 胃癌
id: HP:0012720
hpo_term: Neoplasm of the nose
chpo_term: 鼻肿瘤
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
id: HP:0030079
hpo_term: Cervix cancer
chpo_term: 宫颈癌
id: HP:0100273
hpo_term: Neoplasm of the colon
chpo_term: 结肠新生物
id: HP:0100526
hpo_term: Neoplasm of the lung
chpo_term: 肺部肿瘤
id: HP:0100574
hpo_term: Biliary tract neoplasm
chpo_term: 胆管新生物
id: HP:0100582
hpo_term: Nasal polyposis
chpo_term: 鼻息肉
id: HP:0100644
hpo_term: Melanonychia
chpo_term: 黑甲
id: HP:0100669
hpo_term: Abnormal pigmentation of the oral mucosa
chpo_term: 口腔粘膜色素沉着异常
id: HP:0100743
hpo_term: Neoplasm of the rectum
chpo_term: 直肠肿瘤
id: HP:0100751
hpo_term: Esophageal neoplasm
chpo_term: 食管肿瘤
id: HP:0100833
hpo_term: Neoplasm of the small intestine
chpo_term: 小肠新生物