TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:3035):
Game-Friedman-Paradice syndrome
Growth delay-hydrocephaly-lung hypoplasia syndrome

Associated phenotypes (HPO):
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002410
hpo_term: Aqueductal stenosis
chpo_term: 中脑导水管狭窄
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0002814
hpo_term: Abnormality of the lower limb
chpo_term: 下肢异常
id: HP:0002982
hpo_term: Tibial bowing
chpo_term: 胫骨弯曲
id: HP:0002986
hpo_term: Radial bowing
chpo_term: 桡骨弯曲
id: HP:0002991
hpo_term: Abnormality of fibula morphology
chpo_term: 腓骨形态异常
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0009816
hpo_term: Lower limb undergrowth
chpo_term: 下肢发育不良
id: HP:0100569
hpo_term: Abnormally ossified vertebrae
chpo_term: 椎骨异常骨化
Disease (ORPHA:3038):
Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
Mehes syndrome

Associated phenotypes (HPO):
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
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:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
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:0007946
hpo_term: Unilateral narrow palpebral fissure
chpo_term: 单侧睑裂狭小
id: HP:0009908
hpo_term: Anterior creases of earlobe
chpo_term: 耳垂前襞
Disease (ORPHA:137608):
SOLAMEN syndrome
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome

Associated phenotypes (HPO):
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0004374
hpo_term: Hemiplegia/hemiparesis
chpo_term: 偏瘫/轻偏瘫
id: HP:0005293
hpo_term: Venous insufficiency
chpo_term: 静脉功能不全
id: HP:0007392
hpo_term: Excessive wrinkled skin
chpo_term: 皮肤皱褶过多
id: HP:0010566
hpo_term: Hamartoma
chpo_term: 错构瘤
id: HP:0100013
hpo_term: Neoplasm of the breast
chpo_term: 乳腺肿瘤
id: HP:0100026
hpo_term: Arteriovenous malformation
chpo_term: 动静脉畸形
id: HP:0100031
hpo_term: Neoplasm of the thyroid gland
chpo_term: 甲状腺肿瘤
id: HP:0100559
hpo_term: Lower limb asymmetry
chpo_term: 下肢不对称
id: HP:0100560
hpo_term: Upper limb asymmetry
chpo_term: 上肢不对称
id: HP:0100615
hpo_term: Ovarian neoplasm
chpo_term: 卵巢肿瘤
id: HP:0100761
hpo_term: Visceral angiomatosis
chpo_term: 内脏血管瘤病
id: HP:0100764
hpo_term: Lymphangioma
chpo_term: 淋巴管瘤
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
Disease (ORPHA:98850):
Aggressive systemic mastocytosis

Associated phenotypes (HPO):
id: HP:0100494
hpo_term: Abnormal mast cell morphology
chpo_term: 肥大细胞形态异常
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0025142
hpo_term: Constitutional symptom
chpo_term: 全身性症状
id: HP:0031284
hpo_term: Flushing
chpo_term: 红晕
id: HP:0031408
hpo_term: Increased proportion of CD25+ mast cells
chpo_term: CD25+肥大细胞比例增高
id: HP:0031901
hpo_term: Elevated total serum tryptase
chpo_term: 血清肥大细胞β-类胰蛋白酶浓度升高
id: HP:0032155
hpo_term: Abdominal cramps
chpo_term: 腹部绞痛
id: HP:0100845
hpo_term: Anaphylactic shock
chpo_term: 过敏性休克
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
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:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001909
hpo_term: Leukemia
chpo_term: 白血病
id: HP:0001971
hpo_term: Hypersplenism
chpo_term: 脾功能亢进
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002756
hpo_term: Pathologic fracture
chpo_term: 病理性骨折
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0004377
hpo_term: Hematological neoplasm
chpo_term: 血液肿瘤
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0011121
hpo_term: Abnormality of skin morphology
chpo_term: 皮肤形态异常
id: HP:0040186
hpo_term: Maculopapular exanthema
chpo_term: 斑丘疹样皮疹
Disease (ORPHA:93160):
HVDRR
Vitamin D-resistant rickets type II
VDRR II
VDDR II
Hereditary vitamin D-resistant rickets
Vitamin D-dependent rickets type II
Hypocalcemic vitamin D-resistant rickets

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000765
hpo_term: Abnormal thorax morphology
chpo_term: 胸廓形态异常
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0000843
hpo_term: Hyperparathyroidism
chpo_term: 甲状旁腺功能亢进症
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002148
hpo_term: Hypophosphatemia
chpo_term: 低磷血症
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002749
hpo_term: Osteomalacia
chpo_term: 软骨病。
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0003272
hpo_term: Abnormal hip bone morphology
chpo_term: 髋骨形态异常
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0003330
hpo_term: Abnormal bone structure
chpo_term: 骨结构异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006323
hpo_term: Premature loss of primary teeth
chpo_term: 乳牙过早脱落
id: HP:0009124
hpo_term: Abnormal adipose tissue morphology
chpo_term: 脂肪组织形态异常
id: HP:0012062
hpo_term: Bone cyst
chpo_term: 骨囊肿
id: HP:0100670
hpo_term: Coarse metaphyseal trabecularization
chpo_term: 干骺端小梁增粗
Disease (ORPHA:456328):
X-linked myotubular myopathy-abnormal genitalia syndrome
Xq28 contiguous gene deletion syndrome

Associated phenotypes (HPO):
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000807
hpo_term: Glandular hypospadias
chpo_term: 阴茎头型尿道下裂
id: HP:0000808
hpo_term: Penoscrotal hypospadias
chpo_term: 阴茎阴囊型尿道下裂
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0003244
hpo_term: Penile hypospadias
chpo_term: 阴茎型尿道下裂
id: HP:0040314
hpo_term: Blind vagina
chpo_term: 盲端阴道
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000883
hpo_term: Thin ribs
chpo_term: 瘦小肋骨
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
Disease (ORPHA:309854):
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome

Associated phenotypes (HPO):
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001392
hpo_term: Abnormality of the liver
chpo_term: 肝脏异常
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0001413
hpo_term: Micronodular cirrhosis
chpo_term: 小结节性肝硬化
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001901
hpo_term: Polycythemia
chpo_term: 红细胞增多症
id: HP:0002040
hpo_term: Esophageal varix
chpo_term: 食管静脉曲张
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002345
hpo_term: Action tremor
chpo_term: 动作性震颤
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002453
hpo_term: Abnormal globus pallidus morphology
chpo_term: 苍白球形态异常
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0010927
hpo_term: Abnormal blood inorganic cation concentration
chpo_term: 二价无机阳离子稳态平衡异常
id: HP:0012447
hpo_term: Abnormal myelination
chpo_term: 髓鞘异常
id: HP:0012751
hpo_term: Abnormal basal ganglia MRI signal intensity
chpo_term: 核磁共振基底节异常信
id: HP:0040135
hpo_term: Abnormal transferrin saturation
chpo_term: 运铁蛋白饱和度异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001928
hpo_term: Abnormality of coagulation
chpo_term: 凝血异常
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0002154
hpo_term: Hyperglycinemia
chpo_term: 高甘氨酸血症
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
id: HP:0002446
hpo_term: Astrocytosis
chpo_term: 星形胶质细胞增殖
id: HP:0004337
hpo_term: Abnormality of amino acid metabolism
chpo_term: 氨基酸代谢异常
id: HP:0007010
hpo_term: Poor fine motor coordination
chpo_term: 精细动作协调差
id: HP:0008151
hpo_term: Prolonged prothrombin time
chpo_term: 凝血酶原时间延长
id: HP:0012343
hpo_term: Decreased circulating ferritin concentration
chpo_term: 血清铁蛋白降低
id: HP:0025196
hpo_term: Increased total iron binding capacity
chpo_term: 总铁结合力增高
id: HP:0025321
hpo_term: Copper accumulation in liver
chpo_term: 肝内铜沉积
id: HP:0100513
hpo_term: Low levels of vitamin E
chpo_term: 维生素E缺乏症
id: HP:0000338
hpo_term: Hypomimic face
chpo_term: 面具样面容
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
Disease (ORPHA:949):
Kaplan-Plauchu-Fitch syndrome
Acrocraniofacial dysostosis

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000262
hpo_term: Turricephaly
chpo_term: 尖头畸形
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0001199
hpo_term: Triphalangeal thumb
chpo_term: 三指节拇指
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0002869
hpo_term: Flared iliac wing
chpo_term: 喇叭状髂骨翼
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004467
hpo_term: Preauricular pit
chpo_term: 耳前凹陷
id: HP:0008388
hpo_term: Abnormal toenail morphology
chpo_term: 趾甲形态异常
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0010034
hpo_term: Short 1st metacarpal
chpo_term: 第一掌骨短
id: HP:0010097
hpo_term: Partial duplication of the distal phalanx of the hallux
chpo_term: 拇趾末节指骨部分重复
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000632
hpo_term: Lacrimation abnormality
chpo_term: 泪液分泌异常
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0003272
hpo_term: Abnormal hip bone morphology
chpo_term: 髋骨形态异常
id: HP:0003298
hpo_term: Spina bifida occulta
chpo_term: 隐性脊柱裂
id: HP:0004452
hpo_term: Abnormality of the middle ear ossicles
chpo_term: 中耳听小骨异常
id: HP:0006288
hpo_term: Advanced eruption of teeth
chpo_term: 牙齿过早萌出
id: HP:0009465
hpo_term: Ulnar deviation of finger
chpo_term: 手指尺侧偏斜
id: HP:0011453
hpo_term: Abnormality of the incus
chpo_term: 砧骨异常
id: HP:0011454
hpo_term: Abnormality of the malleus
chpo_term: 锤骨异常
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
Disease (ORPHA:98848):
Indolent systemic mastocytosis

Associated phenotypes (HPO):
id: HP:0005561
hpo_term: Abnormality of bone marrow cell morphology
chpo_term: 骨髓细胞形态异常
id: HP:0011121
hpo_term: Abnormality of skin morphology
chpo_term: 皮肤形态异常
id: HP:0031408
hpo_term: Increased proportion of CD25+ mast cells
chpo_term: CD25+肥大细胞比例增高
id: HP:0100494
hpo_term: Abnormal mast cell morphology
chpo_term: 肥大细胞形态异常
id: HP:0100495
hpo_term: Mastocytosis
chpo_term: 肥大细胞增多症
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0011354
hpo_term: Generalized abnormality of skin
chpo_term: 泛发性皮肤异常
id: HP:0012393
hpo_term: Allergy
chpo_term: 过敏
id: HP:0025081
hpo_term: Darier's sign
chpo_term: Darier征
id: HP:0031284
hpo_term: Flushing
chpo_term: 红晕
id: HP:0031901
hpo_term: Elevated total serum tryptase
chpo_term: 血清肥大细胞β-类胰蛋白酶浓度升高
id: HP:0032155
hpo_term: Abdominal cramps
chpo_term: 腹部绞痛
id: HP:0040186
hpo_term: Maculopapular exanthema
chpo_term: 斑丘疹样皮疹
id: HP:0100845
hpo_term: Anaphylactic shock
chpo_term: 过敏性休克
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
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:0004377
hpo_term: Hematological neoplasm
chpo_term: 血液肿瘤
Disease (ORPHA:98849):
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD

Associated phenotypes (HPO):
id: HP:0004377
hpo_term: Hematological neoplasm
chpo_term: 血液肿瘤
id: HP:0012324
hpo_term: Myeloid leukemia
chpo_term: 髓系白血病
id: HP:0031901
hpo_term: Elevated total serum tryptase
chpo_term: 血清肥大细胞β-类胰蛋白酶浓度升高
id: HP:0100494
hpo_term: Abnormal mast cell morphology
chpo_term: 肥大细胞形态异常
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0001895
hpo_term: Normochromic anemia
chpo_term: 正色素性贫血
id: HP:0001897
hpo_term: Normocytic anemia
chpo_term: 正细胞性贫血
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:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0005547
hpo_term: Myeloproliferative disorder
chpo_term: 骨髓增生性疾病
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0031020
hpo_term: Bone marrow hypercellularity
chpo_term: 骨髓细胞过多
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002086
hpo_term: Abnormality of the respiratory system
chpo_term: 呼吸系统异常
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
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:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0002863
hpo_term: Myelodysplasia
chpo_term: 骨髓增生异常
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0004398
hpo_term: Peptic ulcer
chpo_term: 消化性溃疡
id: HP:0004808
hpo_term: Acute myeloid leukemia
chpo_term: 急性髓性白血病
id: HP:0011897
hpo_term: Neutrophilia
chpo_term: 中性粒细胞增多症
id: HP:0012138
hpo_term: Granulocytic hyperplasia
chpo_term: 粒细胞增生
id: HP:0012325
hpo_term: Chronic myelomonocytic leukemia
chpo_term: 慢性粒单核细胞白血病
id: HP:0031284
hpo_term: Flushing
chpo_term: 红晕
id: HP:0031807
hpo_term: Increased basophil count
chpo_term: 嗜碱性粒细胞计数增高
id: HP:0005550
hpo_term: Chronic lymphatic leukemia
chpo_term: 慢性淋巴细胞白血病
id: HP:0006775
hpo_term: Multiple myeloma
chpo_term: 多发性骨髓瘤
id: HP:0011034
hpo_term: Amyloidosis
chpo_term: 淀粉样变
Disease (ORPHA:945):
Primary acalvaria
Acalvaria

Associated phenotypes (HPO):
id: HP:0000929
hpo_term: Abnormal skull morphology
chpo_term: 颅骨形态异常
id: HP:0007360
hpo_term: Aplasia/Hypoplasia of the cerebellum
chpo_term: 小脑发育缺陷/发育不全
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001362
hpo_term: Calvarial skull defect
chpo_term: 颅骨缺损
id: HP:0002269
hpo_term: Abnormality of neuronal migration
chpo_term: 神经细胞迁移异常
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001360
hpo_term: Holoprosencephaly
chpo_term: 前脑无裂畸形
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0002101
hpo_term: Abnormal lung lobation
chpo_term: 肺分叶异常
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
Disease (ORPHA:3143):
Autoimmune polyendocrine syndrome type 2
Autoimmune polyendocrinopathy type 2
APS type 2
Autoimmune polyglandular syndrome type 2
Schmidt syndrome
APS2
Autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome

Associated phenotypes (HPO):
id: HP:0000820
hpo_term: Abnormality of the thyroid gland
chpo_term: 甲状腺异常
id: HP:0000872
hpo_term: Hashimoto thyroiditis
chpo_term: 桥本甲状腺炎
id: HP:0002608
hpo_term: Celiac disease
chpo_term: 乳糜泻
id: HP:0008207
hpo_term: Primary adrenal insufficiency
chpo_term: 原发性肾上腺功能不全
id: HP:0100647
hpo_term: Graves disease
chpo_term: Graves病
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000829
hpo_term: Hypoparathyroidism
chpo_term: 甲状旁腺功能减退症
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0003011
hpo_term: Abnormality of the musculature
chpo_term: 肌肉组织异常
id: HP:0034061
hpo_term: Anti-steroid 17alpha-hydroxylase antibody positivity
chpo_term: 抗类固醇17α羟化酶抗体阳性
Disease (ORPHA:3144):
Schneckenbecken dysplasia
SLC35D1-CDG
Chondrodysplasia with snail-like pelvis

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000882
hpo_term: Hypoplastic scapulae
chpo_term: 肩胛骨发育不全
id: HP:0000895
hpo_term: Lateral clavicle hook
chpo_term: 锁骨外侧钩
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0000946
hpo_term: Hypoplastic ilia
chpo_term: 髂骨发育不全
id: HP:0000947
hpo_term: Dumbbell-shaped long bone
chpo_term: 哑铃状长骨
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003038
hpo_term: Fibular hypoplasia
chpo_term: 腓骨发育不良
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0005019
hpo_term: Diaphyseal thickening
chpo_term: 骨干增粗
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0008108
hpo_term: Advanced tarsal ossification
chpo_term: 跗骨骨化过早
id: HP:0008479
hpo_term: Hypoplastic vertebral bodies
chpo_term: 椎体发育不良
id: HP:0008873
hpo_term: Disproportionate short-limb short stature
chpo_term: 不相称的短肢矮小
id: HP:0012107
hpo_term: Increased fibular diameter
chpo_term: 腓骨直径增加
Disease (ORPHA:169105):
Good syndrome
Thymoma-immunodeficiency syndrome

Associated phenotypes (HPO):
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0000246
hpo_term: Sinusitis
chpo_term: 鼻窦炎
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001881
hpo_term: Abnormal leukocyte morphology
chpo_term: 白细胞形态异常
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0003473
hpo_term: Fatigable weakness
chpo_term: 疲劳性肌无力
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0010515
hpo_term: Aplasia/Hypoplasia of the thymus
chpo_term: 胸腺未发育/发育不全
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0100522
hpo_term: Thymoma
chpo_term: 胸腺瘤
id: HP:0100721
hpo_term: Mediastinal lymphadenopathy
chpo_term: 纵膈淋巴结病