TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:231401):
Acquired HbH disease
Alpha-thalassemia-myelodysplastic syndrome
Acquired hemoglobin H disease
ATMDS

Associated phenotypes (HPO):
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0001935
hpo_term: Microcytic anemia
chpo_term: 小细胞性贫血
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002488
hpo_term: Acute leukemia
chpo_term: 急性白血病
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0002863
hpo_term: Myelodysplasia
chpo_term: 骨髓增生异常
id: HP:0011903
hpo_term: HbH hemoglobin
chpo_term: 血红蛋白H
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
Disease (ORPHA:261272):
Trisomy 17q12
Dup(17)(q12)
17q12 microduplication syndrome

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0002463
hpo_term: Language impairment
chpo_term: 语言障碍
id: HP:0002539
hpo_term: Cortical dysplasia
chpo_term: 皮质发育不良
id: HP:0002575
hpo_term: Tracheoesophageal fistula
chpo_term: 气管食管瘘
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
Disease (ORPHA:398173):
Focal facial dermal dysplasia type II
FFDD type II
FFDD2
Focal facial dermal dysplasia 2, Brauer-Setleis type

Associated phenotypes (HPO):
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001128
hpo_term: Trichiasis
chpo_term: 倒睫
id: HP:0002055
hpo_term: Curved linear dimple below the lower lip
chpo_term: 下唇下弧形凹陷
id: HP:0009743
hpo_term: Distichiasis
chpo_term: 双行睫
id: HP:0011336
hpo_term: Bitemporal forceps marks
chpo_term: 双颞钳痕
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0000385
hpo_term: Small earlobe
chpo_term: 小耳垂
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0004554
hpo_term: Generalized hypertrichosis
chpo_term: 泛发性多毛症
id: HP:0007651
hpo_term: Ectropion of lower eyelids
chpo_term: 下眼睑外翻
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000387
hpo_term: Absent earlobe
chpo_term: 耳垂缺失
id: HP:0000394
hpo_term: Lop ear
chpo_term: 垂耳
Disease (ORPHA:677):
Pancreatoblastoma

Associated phenotypes (HPO):
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0005213
hpo_term: Pancreatic calcification
chpo_term: 胰腺钙化
id: HP:0011432
hpo_term: High maternal circulating alpha-fetoprotein concentration
chpo_term: 母体循环甲胎蛋白水平高
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0002733
hpo_term: Abnormality of the lymph nodes
chpo_term: 淋巴结异常
Disease (ORPHA:676):
Autosomal dominant hereditary chronic pancreatitis
Hereditary chronic pancreatitis

Associated phenotypes (HPO):
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0100027
hpo_term: Recurrent pancreatitis
chpo_term: 复发性胰腺炎
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0005213
hpo_term: Pancreatic calcification
chpo_term: 胰腺钙化
id: HP:0030247
hpo_term: Splanchnic vein thrombosis
chpo_term: 内脏静脉血栓形成
Disease (ORPHA:679):
Malignant atrophic papulosis
Papulosis atrophicans maligna
MAP
Cutaneo-muco-intestinal syndrome

Associated phenotypes (HPO):
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0100585
hpo_term: Telangiectasia of the skin
chpo_term: 皮肤毛细血管扩张
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0005244
hpo_term: Gastrointestinal infarctions
chpo_term: 胃肠道梗塞
id: HP:0010547
hpo_term: Muscle flaccidity
chpo_term: 肌无力
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0031368
hpo_term: Intestinal perforation
chpo_term: 肠穿孔
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000587
hpo_term: Abnormality of the optic nerve
chpo_term: 视神经异常
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001637
hpo_term: Abnormal myocardium morphology
chpo_term: 心肌形态异常
id: HP:0001658
hpo_term: Myocardial infarction
chpo_term: 心肌梗死
id: HP:0001697
hpo_term: Abnormal pericardium morphology
chpo_term: 心包形态异常
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002140
hpo_term: Ischemic stroke
chpo_term: 缺血性脑卒中
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002586
hpo_term: Peritonitis
chpo_term: 腹膜炎
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0004420
hpo_term: Arterial thrombosis
chpo_term: 动脉血栓形成
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0007021
hpo_term: Pain insensitivity
chpo_term: 疼痛不敏感
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0010936
hpo_term: Abnormality of the lower urinary tract
chpo_term: 下尿路异常
id: HP:0012089
hpo_term: Arteritis
chpo_term: 动脉炎
id: HP:0100576
hpo_term: Amaurosis fugax
chpo_term: 一时性黑蒙
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0100819
hpo_term: Intestinal fistula
chpo_term: 肠瘘
Disease (ORPHA:678):
PLS
Keratosis palmoplantar-periodontopathy syndrome
Papillon-Lefèvre syndrome

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000166
hpo_term: Severe periodontitis
chpo_term: 重度牙周炎
id: HP:0000230
hpo_term: Gingivitis
chpo_term: 牙龈炎
id: HP:0000704
hpo_term: Periodontitis
chpo_term: 牙周炎
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0001073
hpo_term: Cigarette-paper scars
chpo_term: 卷烟纸样瘢痕
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0002231
hpo_term: Sparse body hair
chpo_term: 体毛稀疏
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0002860
hpo_term: Squamous cell carcinoma
chpo_term: 鳞状细胞癌
id: HP:0002861
hpo_term: Melanoma
chpo_term: 黑色素瘤
id: HP:0006308
hpo_term: Atrophy of alveolar ridges
chpo_term: 牙槽嵴萎缩
id: HP:0006323
hpo_term: Premature loss of primary teeth
chpo_term: 乳牙过早脱落
id: HP:0008069
hpo_term: Neoplasm of the skin
chpo_term: 皮肤肿瘤
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0009804
hpo_term: Tooth agenesis
chpo_term: 牙齿发育不全
id: HP:0011132
hpo_term: Chronic furunculosis
chpo_term: 慢性疖病
id: HP:0100523
hpo_term: Liver abscess
chpo_term: 肝脓肿
id: HP:0100838
hpo_term: Recurrent cutaneous abscess formation
chpo_term: 复发性皮肤脓肿
id: HP:0200039
hpo_term: Pustule
chpo_term: 脓疱
Disease (ORPHA:100024):
mu-HCD
Mu-heavy chain disease

Associated phenotypes (HPO):
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0005561
hpo_term: Abnormality of bone marrow cell morphology
chpo_term: 骨髓细胞形态异常
id: HP:0010702
hpo_term: Increased circulating antibody level
chpo_term: 循环抗体水平升高
id: HP:0010975
hpo_term: Abnormal B cell count
chpo_term: B细胞数量异常
id: HP:0030156
hpo_term: Bence Jones Proteinuria
chpo_term: 本氏蛋白尿
Disease (ORPHA:100025):
Immunoproliferative small intestinal disease
Alpha-HCD
Mediterranean lymphoma
IPSID
Alpha-heavy chain disease

Associated phenotypes (HPO):
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002244
hpo_term: Abnormality of the small intestine
chpo_term: 小肠异常
id: HP:0002961
hpo_term: Dysgammaglobulinemia
chpo_term: 异常丙种球蛋白血症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
Disease (ORPHA:631):
Congenital IGHD
Congenital isolated GH deficiency
Congenital isolated growth hormone deficiency
Non-acquired isolated growth hormone deficiency

Associated phenotypes (HPO):
id: HP:0000830
hpo_term: Anterior hypopituitarism
chpo_term: 垂体前叶功能减退症
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000295
hpo_term: Doll-like facies
chpo_term: 娃娃脸
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
id: HP:0001998
hpo_term: Neonatal hypoglycemia
chpo_term: 新生儿低血糖
id: HP:0003199
hpo_term: Decreased muscle mass
chpo_term: 肌量减少
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0012743
hpo_term: Abdominal obesity
chpo_term: 腹型肥胖
id: HP:0030353
hpo_term: Decreased serum insulin-like growth factor 1
chpo_term: 血清胰岛素样生长因子-1（IGF1）水平降低
id: HP:0100678
hpo_term: Premature skin wrinkling
chpo_term: 皮肤过早起皱
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0030260
hpo_term: Microphallus
chpo_term: 阴茎过小
Disease (ORPHA:100026):
Gamma-HCD
Gamma-heavy chain disease
Franklin disease

Associated phenotypes (HPO):
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001370
hpo_term: Rheumatoid arthritis
chpo_term: 类风湿关节炎
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001890
hpo_term: Autoimmune hemolytic anemia
chpo_term: 自身免疫性溶血性贫血
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001973
hpo_term: Autoimmune thrombocytopenia
chpo_term: 自身免疫性血小板减少症
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0004332
hpo_term: Abnormal lymphocyte morphology
chpo_term: 淋巴细胞形态异常
id: HP:0005561
hpo_term: Abnormality of bone marrow cell morphology
chpo_term: 骨髓细胞形态异常
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0100648
hpo_term: Neoplasm of the tongue
chpo_term: 舌瘤
Disease (ORPHA:449432):
Küttner tumor
IgG4-related submandibular gland disease

Associated phenotypes (HPO):
id: HP:0012090
hpo_term: Abnormal pancreas morphology
chpo_term: 胰腺形态异常
id: HP:0025439
hpo_term: Pharyngitis
chpo_term: 咽炎
id: HP:0100539
hpo_term: Periorbital edema
chpo_term: 眶周水肿
id: HP:0000024
hpo_term: Prostatitis
chpo_term: 前列腺炎
id: HP:0025426
hpo_term: Abnormal bronchus morphology
chpo_term: 支气管形态异常
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003237
hpo_term: Increased circulating IgG level
chpo_term: 循环IgG水平升高
id: HP:0010287
hpo_term: Abnormality of the submandibular glands
chpo_term: 颌下腺异常
id: HP:0032300
hpo_term: Increased circulating IgG4 level
chpo_term: 血液IgG4增多
id: HP:0000217
hpo_term: Xerostomia
chpo_term: 口腔干燥
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0003212
hpo_term: Increased circulating IgE level
chpo_term: 循环IgE升高
id: HP:0004431
hpo_term: Complement deficiency
chpo_term: 补体缺陷
id: HP:0007734
hpo_term: Enlarged lacrimal glands
chpo_term: 泪腺增大
id: HP:0010286
hpo_term: Abnormal salivary gland morphology
chpo_term: 唾液腺形态异常
id: HP:0010702
hpo_term: Increased circulating antibody level
chpo_term: 循环抗体水平升高
id: HP:0031281
hpo_term: Sialadenitis
chpo_term: 涎腺炎
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000282
hpo_term: Facial edema
chpo_term: 面部水肿
id: HP:0000820
hpo_term: Abnormality of the thyroid gland
chpo_term: 甲状腺异常
id: HP:0005200
hpo_term: Retroperitoneal fibrosis
chpo_term: 腹膜后纤维化
id: HP:0011801
hpo_term: Enlargement of parotid gland
chpo_term: 腮腺肿大
id: HP:0030151
hpo_term: Cholangitis
chpo_term: 胆管炎
Disease (ORPHA:261265):
Monosomy 17q12
17q12 microdeletion syndrome
Del(17)(q12)

Associated phenotypes (HPO):
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000049
hpo_term: Shawl scrotum
chpo_term: 披肩状阴囊
id: HP:0000070
hpo_term: Ureterocele
chpo_term: 输尿管囊肿
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002463
hpo_term: Language impairment
chpo_term: 语言障碍
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012157
hpo_term: Subcortical cerebral atrophy
chpo_term: 皮层下脑萎缩
id: HP:0100801
hpo_term: Pancreatic aplasia
chpo_term: 胰腺发育不良
Disease (ORPHA:66661):
Mast cell sarcoma

Associated phenotypes (HPO):
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0100242
hpo_term: Sarcoma
chpo_term: 肉瘤
id: HP:0100495
hpo_term: Mastocytosis
chpo_term: 肥大细胞增多症
id: HP:0100720
hpo_term: Hypoplasia of the ear cartilage
chpo_term: 耳软骨发育不全
id: HP:0100721
hpo_term: Mediastinal lymphadenopathy
chpo_term: 纵膈淋巴结病
Disease (ORPHA:457050):
Autosomal dominant mitochondrial myopathy with exercise intolerance

Associated phenotypes (HPO):
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0003200
hpo_term: Ragged-red muscle fibers
chpo_term: 破碎红纤维
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0003722
hpo_term: Neck flexor weakness
chpo_term: 颈屈肌无力
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008180
hpo_term: Mildly elevated creatine kinase
chpo_term: 肌酸磷酸激酶轻度升高
id: HP:0008994
hpo_term: Proximal muscle weakness in lower limbs
chpo_term: 下肢近端肌无力
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0012240
hpo_term: Increased intramyocellular lipid droplets
chpo_term: 肌细胞内脂滴增加
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0040014
hpo_term: Increased mitochondrial number
chpo_term: 线粒体数目增加
id: HP:0008997
hpo_term: Proximal muscle weakness in upper limbs
chpo_term: 上肢近端肌无力
Disease (ORPHA:353253):
Stomatodynia
Stomatopyrosis
BMS
Orodynia
Burning mouth syndrome
Oral dysesthesia

Associated phenotypes (HPO):
id: HP:0012534
hpo_term: Dysesthesia
chpo_term: 感觉障碍
id: HP:0031249
hpo_term: Parageusia
chpo_term: 味觉倒错
id: HP:0010829
hpo_term: Impaired temperature sensation
chpo_term: 温度觉障碍
id: HP:0010824
hpo_term: Abnormal fifth cranial nerve morphology
chpo_term: 第V颅神经形态异常
id: HP:0007377
hpo_term: Abnormality of somatosensory evoked potentials
chpo_term: 体感诱发电位异常
id: HP:0032143
hpo_term: Burning mouth
chpo_term: 灼口
id: HP:0000223
hpo_term: Abnormality of taste sensation
chpo_term: 味觉异常
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0030811
hpo_term: Tongue pain
chpo_term: 舌痛
id: HP:0000168
hpo_term: Abnormality of the gingiva
chpo_term: 牙龈异常
id: HP:0000217
hpo_term: Xerostomia
chpo_term: 口腔干燥
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0031042
hpo_term: Strawberry tongue
chpo_term: 草莓舌
id: HP:0010298
hpo_term: Smooth tongue
chpo_term: 光舌
Disease (ORPHA:626):
Large/giant congenital pigmented nevus
Large/giant CMN syndrome
Large/giant congenital melanocytic nevus
LGCMN

Associated phenotypes (HPO):
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0003764
hpo_term: Nevus
chpo_term: 色素痣
id: HP:0005600
hpo_term: Congenital giant melanocytic nevus
chpo_term: 先天性巨大型色素痣
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000970
hpo_term: Anhidrosis
chpo_term: 无汗症
id: HP:0001058
hpo_term: Poor wound healing
chpo_term: 伤口愈合不良
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
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:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0002176
hpo_term: Spinal cord compression
chpo_term: 脊髓受压
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:0012056
hpo_term: Cutaneous melanoma
chpo_term: 皮肤黑色素瘤
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0004912
hpo_term: Hypophosphatemic rickets
chpo_term: 低磷性佝偻病
id: HP:0010314
hpo_term: Premature thelarche
chpo_term: 乳房早熟
Disease (ORPHA:168577):
CHC type 2
Hereditary cryohydrocytosis type 2
Hereditary cryohydrocytosis with reduced stomatin
Stomatin-deficient cryohydrocytosis
sdCHC

Associated phenotypes (HPO):
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0003575
hpo_term: Increased intracellular sodium
chpo_term: 细胞内钠离子浓度增高
id: HP:0004446
hpo_term: Stomatocytosis
chpo_term: 口形红细胞增多症
id: HP:0005525
hpo_term: Spontaneous hemolytic crises
chpo_term: 自发性溶血危象
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0011972
hpo_term: Hypoglycorrhachia
chpo_term: 脑脊液糖减低
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000475
hpo_term: Broad neck
chpo_term: 宽颈
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001334
hpo_term: Communicating hydrocephalus
chpo_term: 交通性脑积水
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0002908
hpo_term: Conjugated hyperbilirubinemia
chpo_term: 高结合胆红素血症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007229
hpo_term: Intracerebral periventricular calcifications
chpo_term: 颅内脑室周围钙化
id: HP:0010306
hpo_term: Short thorax
chpo_term: 胸部短小
id: HP:0010920
hpo_term: Zonular cataract
chpo_term: 带状白内障
id: HP:0012430
hpo_term: Cerebral white matter hypoplasia
chpo_term: 脑白质发育不良
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0012695
hpo_term: Decreased thalamic volume
chpo_term: 丘脑体积减少
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
Disease (ORPHA:39041):
Combined immunodeficiency with hypereosinophilia
Omenn syndrome

Associated phenotypes (HPO):
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001019
hpo_term: Erythroderma
chpo_term: 剥脱性皮炎
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0004332
hpo_term: Abnormal lymphocyte morphology
chpo_term: 淋巴细胞形态异常
id: HP:0004430
hpo_term: Severe combined immunodeficiency
chpo_term: 重症联合免疫缺陷
id: HP:0007549
hpo_term: Desquamation of skin soon after birth
chpo_term: 出生后皮肤剥脱
id: HP:0100646
hpo_term: Thyroiditis
chpo_term: 甲状腺炎
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0100840
hpo_term: Aplasia/Hypoplasia of the eyebrow
chpo_term: 眉毛发育不全