TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:263665):
NK-cell enteropathy

Associated phenotypes (HPO):
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0005523
hpo_term: Lymphoproliferative disorder
chpo_term: 淋巴增生性疾病
id: HP:0100828
hpo_term: Increased T cell count
chpo_term: T细胞数目增多
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002253
hpo_term: Colonic diverticula
chpo_term: 结肠憩室
id: HP:0002573
hpo_term: Hematochezia
chpo_term: 便血
id: HP:0002588
hpo_term: Duodenal ulcer
chpo_term: 十二指肠溃疡
id: HP:0002592
hpo_term: Gastric ulcer
chpo_term: 胃溃疡
id: HP:0004295
hpo_term: Abnormal gastric mucosa morphology
chpo_term: 胃黏膜形态异常
id: HP:0005266
hpo_term: Intestinal polyp
chpo_term: 肠息肉
id: HP:0012425
hpo_term: Stercoral ulcer
chpo_term: 粪性溃疡
Disease (ORPHA:2196):
Meier-Blumberg-Imahorn syndrome
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
FHHNC with severe ocular involvement
Hypercalciuria-bilateral macular coloboma syndrome

Associated phenotypes (HPO):
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0001116
hpo_term: Macular coloboma
chpo_term: 黄斑缺损
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0100530
hpo_term: Abnormal calcium-phosphate regulating hormone level
chpo_term: 磷酸盐和钙的调节激素异常
Disease (ORPHA:565782):
Methotrexate toxicity

Associated phenotypes (HPO):
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000155
hpo_term: Oral ulcer
chpo_term: 口腔溃疡
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0001889
hpo_term: Megaloblastic anemia
chpo_term: 巨幼细胞性贫血
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002329
hpo_term: Drowsiness
chpo_term: 困倦
id: HP:0006515
hpo_term: Interstitial pneumonitis
chpo_term: 间质性肺炎
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
Disease (ORPHA:85163):
Hypomyelination-congenital cataract syndrome

Associated phenotypes (HPO):
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001317
hpo_term: Abnormal cerebellum morphology
chpo_term: 小脑形态异常
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0006808
hpo_term: Cerebral hypomyelination
chpo_term: 脑髓鞘形成减少
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
Disease (ORPHA:85164):
CATSHL syndrome
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
Camptodactyly-tall stature-scoliosis-deafness syndrome

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0100491
hpo_term: Abnormality of lower limb joint
chpo_term: 下肢关节异常
Disease (ORPHA:85165):
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
SADDAN

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000889
hpo_term: Abnormal clavicle morphology
chpo_term: 锁骨形态异常
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0002980
hpo_term: Femoral bowing
chpo_term: 股骨弯曲
id: HP:0002982
hpo_term: Tibial bowing
chpo_term: 胫骨弯曲
id: HP:0005871
hpo_term: Metaphyseal chondrodysplasia
chpo_term: 干骺端软骨发育不良
id: HP:0009118
hpo_term: Aplasia/Hypoplasia of the mandible
chpo_term: 下颌骨发育不良/发育不全
id: HP:0010502
hpo_term: Fibular bowing
chpo_term: 腓骨弯曲
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0012081
hpo_term: Enlarged cerebellum
chpo_term: 小脑增大
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
Disease (ORPHA:85166):
Platyspondylic lethal skeletal dysplasia, Torrance type
Platyspondylic dysplasia, Torrance-Luton type
Platyspondylic dysplasia, Torrance type
PLSD-T

Associated phenotypes (HPO):
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0001191
hpo_term: Abnormal carpal morphology
chpo_term: 腕骨形态异常
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003021
hpo_term: Metaphyseal cupping
chpo_term: 干骺端内陷
id: HP:0003090
hpo_term: Hypoplasia of the capital femoral epiphysis
chpo_term: 股骨近端骨骺发育不全
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0008839
hpo_term: Hypoplastic pelvis
chpo_term: 骨盆发育不良
id: HP:0008873
hpo_term: Disproportionate short-limb short stature
chpo_term: 不相称的短肢矮小
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0010306
hpo_term: Short thorax
chpo_term: 胸部短小
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000882
hpo_term: Hypoplastic scapulae
chpo_term: 肩胛骨发育不全
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
Disease (ORPHA:409):
Hyperkeratosis lenticularis perstans
Flegel disease

Associated phenotypes (HPO):
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0002671
hpo_term: Basal cell carcinoma
chpo_term: 基底细胞癌
id: HP:0002860
hpo_term: Squamous cell carcinoma
chpo_term: 鳞状细胞癌
id: HP:0007570
hpo_term: Hyperkeratosis lenticularis perstans
chpo_term: 持久性豆状角化过度病
id: HP:0008065
hpo_term: Aplasia/Hypoplasia of the skin
chpo_term: 皮肤发育缺陷/不全
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
Disease (ORPHA:2199):
Epidermolytic palmoplantar keratoderma of Voerner
Diffuse erythrodermic palmoplantar keratoderma, Vörner type
Epidermolytic palmoplantar keratoderma
EPPK
Epidermolytic palmoplantar keratoderma of Vörner
Diffuse erythrodermic palmoplantar keratoderma, Voerner type

Associated phenotypes (HPO):
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0001217
hpo_term: Clubbing
chpo_term: 杵状指
id: HP:0001220
hpo_term: Interphalangeal joint contracture of finger
chpo_term: 指间关节挛缩
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0007447
hpo_term: Diffuse palmoplantar hyperkeratosis
chpo_term: 弥漫性掌跖角化过度
id: HP:0010765
hpo_term: Palmar hyperkeratosis
chpo_term: 掌部角化过度
id: HP:0025092
hpo_term: Epidermal acanthosis
chpo_term: 表皮棘皮症
id: HP:0032541
hpo_term: Knuckle pad
chpo_term: 手指关节垫
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0010829
hpo_term: Impaired temperature sensation
chpo_term: 温度觉障碍
id: HP:0010830
hpo_term: Impaired tactile sensation
chpo_term: 触觉障碍
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0025114
hpo_term: Hypergranulosis
chpo_term: 颗粒层增厚
Disease (ORPHA:2198):
Palmoplantar hyperkeratosis-esophageal carcinoma syndrome
Bennion-Patterson syndrome
Tylosis-oesophageal carcinoma syndrome
Keratosis palmoplantaris-esophageal carcinoma syndrome
Howell-Evans syndrome
Palmoplantar keratoderma-esophageal carcinoma syndrome

Associated phenotypes (HPO):
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002250
hpo_term: Abnormal large intestine morphology
chpo_term: 大肠形态异常
id: HP:0100751
hpo_term: Esophageal neoplasm
chpo_term: 食管肿瘤
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0025270
hpo_term: Abnormal esophagus physiology
chpo_term: 食管生理异常
id: HP:0045026
hpo_term: Abnormality of the mediastinum
chpo_term: 纵膈异常
id: HP:0100760
hpo_term: Clubbing of toes
chpo_term: 杵状趾
Disease (ORPHA:85162):
Facial onset sensory and motor neuronopathy
FOSMN syndrome

Associated phenotypes (HPO):
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
Disease (ORPHA:2197):
Idiopathic hypercalciuria

Associated phenotypes (HPO):
id: HP:0002150
hpo_term: Hypercalciuria
chpo_term: 高钙尿症
id: HP:0012637
hpo_term: Renal calcium wasting
chpo_term: 肾源性钙流失
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0008672
hpo_term: Calcium oxalate nephrolithiasis
chpo_term: 草酸钙肾结石
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0003529
hpo_term: Parathormone-independent increased renal tubular calcium reabsorption
chpo_term: 非甲状旁腺激素依赖性肾小管钙重吸收增加
id: HP:0004363
hpo_term: Abnormal circulating calcium concentration
chpo_term: 钙稳态平衡异常
Disease (ORPHA:228423):
GATA2 deficiency spectrum
GATA binding protein 2 deficiency spectrum

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002488
hpo_term: Acute leukemia
chpo_term: 急性白血病
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0003010
hpo_term: Prolonged bleeding time
chpo_term: 出血时间延长
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
id: HP:0011991
hpo_term: Abnormal neutrophil count
chpo_term: 中性粒细胞数量异常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0000389
hpo_term: Chronic otitis media
chpo_term: 慢性中耳炎
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000587
hpo_term: Abnormality of the optic nerve
chpo_term: 视神经异常
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
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:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002170
hpo_term: Intracranial hemorrhage
chpo_term: 颅内出血
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:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0100724
hpo_term: Hypercoagulability
chpo_term: 高凝状态
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0005547
hpo_term: Myeloproliferative disorder
chpo_term: 骨髓增生性疾病
Disease (ORPHA:405):
Familial hypocalciuric hypercalcemia
FBHH
Familial benign hypocalciuric hypercalcemia
FBH
Familial benign hypercalcemia
FHH

Associated phenotypes (HPO):
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0003127
hpo_term: Hypocalciuria
chpo_term: 低钙尿症
id: HP:0003513
hpo_term: Reduced ratio of renal calcium clearance to creatinine clearance
chpo_term: 肾钙清除与肌酐清除比率降低
id: HP:0003529
hpo_term: Parathormone-independent increased renal tubular calcium reabsorption
chpo_term: 非甲状旁腺激素依赖性肾小管钙重吸收增加
id: HP:0002749
hpo_term: Osteomalacia
chpo_term: 软骨病。
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0008732
hpo_term: Renal hypophosphatemia
chpo_term: 肾性低磷血症
id: HP:0000934
hpo_term: Chondrocalcinosis
chpo_term: 软骨钙质沉着症
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002574
hpo_term: Episodic abdominal pain
chpo_term: 阵发性腹痛
id: HP:0002918
hpo_term: Hypermagnesemia
chpo_term: 高镁血症
id: HP:0004398
hpo_term: Peptic ulcer
chpo_term: 消化性溃疡
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012609
hpo_term: Hypomagnesiuria
chpo_term: 低镁尿症
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0002199
hpo_term: Hypocalcemic seizures
chpo_term: 低钙发作
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0012032
hpo_term: Lipoma
chpo_term: 脂肪瘤
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
Disease (ORPHA:408):
Hyperglycerolemia
Isolated glycerol kinase deficiency

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
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:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008182
hpo_term: Adrenocortical hypoplasia
chpo_term: 肾上腺皮质发育不全
Disease (ORPHA:407):
Non-ketotic hyperglycinemia
Glycine encephalopathy
NKA

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002154
hpo_term: Hyperglycinemia
chpo_term: 高甘氨酸血症
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0010851
hpo_term: EEG with burst suppression
chpo_term: EEG伴爆发抑制
id: HP:0012705
hpo_term: Abnormal metabolic brain imaging by MRS
chpo_term: 通过MRS发现的脑代谢异常
id: HP:0100247
hpo_term: Recurrent singultus
chpo_term: 反复性嗝逆
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0005957
hpo_term: Breathing dysregulation
chpo_term: 呼吸失调
id: HP:0005972
hpo_term: Respiratory acidosis
chpo_term: 呼吸性酸中毒
Disease (ORPHA:228426):
Syndromic multisystem autoimmune disease due to Itch deficiency

Associated phenotypes (HPO):
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:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
id: HP:0006528
hpo_term: Chronic lung disease
chpo_term: 慢性肺病
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001971
hpo_term: Hypersplenism
chpo_term: 脾功能亢进
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0025379
hpo_term: Anti-thyroid peroxidase antibody positivity
chpo_term: 抗甲状腺过氧化物酶抗体阳性
id: HP:0100646
hpo_term: Thyroiditis
chpo_term: 甲状腺炎
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000269
hpo_term: Prominent occiput
chpo_term: 枕骨突出
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0001904
hpo_term: Neutropenia in presence of anti-neutropil antibodies
chpo_term: 抗中性粒细胞抗体阳性的中性粒细胞减少症
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002242
hpo_term: Abnormal intestine morphology
chpo_term: 小肠形态异常
id: HP:0003262
hpo_term: Smooth muscle antibody positivity
chpo_term: 平滑肌抗体阳性
id: HP:0003453
hpo_term: Antineutrophil antibody positivity
chpo_term: 抗中性粒细胞抗体阳性
id: HP:0006554
hpo_term: Acute hepatic failure
chpo_term: 急性肝功能衰竭
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0025329
hpo_term: Anti-glutamic acid decarboxylase antibody positivity
chpo_term: 抗谷氨酸脱羧酶抗体阳性
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0030151
hpo_term: Cholangitis
chpo_term: 胆管炎
id: HP:0031104
hpo_term: Insulin receptor antibody positivity
chpo_term: 胰岛素受体抗体阳性
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
Disease (ORPHA:99798):
Selective tooth agenesis
Oligodontia

Associated phenotypes (HPO):
id: HP:0000677
hpo_term: Oligodontia
chpo_term: 少牙畸形
id: HP:0005216
hpo_term: Impaired mastication
chpo_term: 咀嚼功能受损
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0000690
hpo_term: Agenesis of maxillary lateral incisor
chpo_term: 上颌侧切牙发育不全
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000696
hpo_term: Delayed eruption of permanent teeth
chpo_term: 恒牙萌出延迟
id: HP:0006289
hpo_term: Agenesis of central incisor
chpo_term: 中切牙发育不全
id: HP:0006336
hpo_term: Short dental root
chpo_term: 短牙根
id: HP:0011051
hpo_term: Agenesis of premolar
chpo_term: 前磨牙发育不全
id: HP:0011056
hpo_term: Agenesis of first permanent molar tooth
chpo_term: 第一恒磨牙发育不全
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000679
hpo_term: Taurodontia
chpo_term: 牙髓腔增大
id: HP:0000685
hpo_term: Hypoplasia of teeth
chpo_term: 牙齿发育不全
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0006342
hpo_term: Peg-shaped maxillary lateral incisors
chpo_term: 钉形上颌侧切牙
id: HP:0006344
hpo_term: Abnormality of primary molar morphology
chpo_term: 乳臼齿形态异常
id: HP:0006482
hpo_term: Abnormality of dental morphology
chpo_term: 牙齿形态异常
id: HP:0011053
hpo_term: Agenesis of mandibular premolar
chpo_term: 下颌前臼齿（前磨牙）发育不全
id: HP:0011078
hpo_term: Abnormality of canine
chpo_term: 犬齿异常
id: HP:0011219
hpo_term: Short face
chpo_term: 短脸
id: HP:0012472
hpo_term: Eclabion
chpo_term: 唇外翻
Disease (ORPHA:404):
Familial hyperaldosteronism type 2
FH-II
FH2
Familial hyperaldosteronism type II

Associated phenotypes (HPO):
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0011740
hpo_term: Glucocortocoid-insensitive primary hyperaldosteronism
chpo_term: 糖皮质激素不敏感的原发性醛固酮增多症
id: HP:0040084
hpo_term: Abnormal circulating renin
chpo_term: 循环肾素水平异常
id: HP:0011746
hpo_term: Secretory adrenocortical adenoma
chpo_term: 分泌型肾上腺皮质腺瘤
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002170
hpo_term: Intracranial hemorrhage
chpo_term: 颅内出血
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0008221
hpo_term: Adrenal hyperplasia
chpo_term: 肾上腺增生
id: HP:0200114
hpo_term: Metabolic alkalosis
chpo_term: 代谢性碱中毒
id: HP:0011739
hpo_term: Dexamethasone-suppressible primary hyperaldosteronism
chpo_term: 地塞米松可抑制的原发性醛固酮增多症
Disease (ORPHA:403):
FH-I
FH1
GRA
Glucocorticoid-remediable aldosteronism
Dexamethasone-sensitive hypertension
Familial hyperaldosteronism type I
Familial hyperaldosteronism type 1
Glucocorticoid-sensitive hypertension

Associated phenotypes (HPO):
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0011739
hpo_term: Dexamethasone-suppressible primary hyperaldosteronism
chpo_term: 地塞米松可抑制的原发性醛固酮增多症
id: HP:0008221
hpo_term: Adrenal hyperplasia
chpo_term: 肾上腺增生
id: HP:0040084
hpo_term: Abnormal circulating renin
chpo_term: 循环肾素水平异常
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002170
hpo_term: Intracranial hemorrhage
chpo_term: 颅内出血
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0011410
hpo_term: Caesarian section
chpo_term: 剖腹产
id: HP:0011746
hpo_term: Secretory adrenocortical adenoma
chpo_term: 分泌型肾上腺皮质腺瘤
id: HP:0100602
hpo_term: Preeclampsia
chpo_term: 先兆子痫