TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:231100):
Hemochromatosis, neonatal
HEMOCHROMATOSIS, NEONATAL

Associated phenotypes (HPO):
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0003452
hpo_term: Increased serum iron
chpo_term: 血清铁离子增高
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001790
hpo_term: Nonimmune hydrops fetalis
chpo_term: 非免疫性胎儿水肿
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0011031
hpo_term: Abnormality of iron homeostasis
chpo_term: 铁紊乱
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001404
hpo_term: Hepatocellular necrosis
chpo_term: 肝细胞坏死
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0003678
hpo_term: Rapidly progressive
chpo_term: 快速进展
Disease (OMIM:164185):
Ocular cicatricial pemphigoid
OCULAR CICATRICIAL PEMPHIGOID

Associated phenotypes (HPO):
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
Disease (OMIM:102200):
PITUITARY ADENOMA 1, MULTIPLE TYPES
Pituitary adenoma, growth hormone-secreting, 1

Associated phenotypes (HPO):
id: HP:0030269
hpo_term: Increased circulating insulin-like growth factor 1 concentration
chpo_term: 循环胰岛素样因子1水平升高
id: HP:0000870
hpo_term: Increased circulating prolactin concentration
chpo_term: 泌乳素水平升高
id: HP:0002893
hpo_term: Pituitary adenoma
chpo_term: 垂体腺瘤
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0011760
hpo_term: Pituitary growth hormone cell adenoma
chpo_term: 垂体生长激素腺瘤
id: HP:0000858
hpo_term: Irregular menstruation
chpo_term: 月经不调
id: HP:0033794
hpo_term: Acral overgrowth
chpo_term: 肢端过度生长
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0100829
hpo_term: Galactorrhea
chpo_term: 溢乳
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0000845
hpo_term: Elevated circulating growth hormone concentration
chpo_term: 生长激素水平升高
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0006767
hpo_term: Pituitary prolactin cell adenoma
chpo_term: 垂体泌乳素腺瘤
Disease (OMIM:271530):
BRACHYOLMIA TYPE 1, HOBAEK TYPE
Brachyolmia type 1, Hobaek type

Associated phenotypes (HPO):
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0100864
hpo_term: Short femoral neck
chpo_term: 股骨颈短
id: HP:0100866
hpo_term: Short iliac bones
chpo_term: 短髂骨
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0003301
hpo_term: Irregular vertebral endplates
chpo_term: 椎体终板不规则
id: HP:0003521
hpo_term: Disproportionate short-trunk short stature
chpo_term: 不成比例的短躯干性矮小
id: HP:0008418
hpo_term: Squared-off platyspondyly
chpo_term: 方形扁平椎
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0005004
hpo_term: Flattened proximal radial epiphyses
chpo_term: 桡骨近端骨骺扁平
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0012774
hpo_term: Increased upper to lower segment ratio
chpo_term: 上下身比例增大
id: HP:0003180
hpo_term: Flat acetabular roof
chpo_term: 扁平髋臼顶
id: HP:0034770
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0002945
hpo_term: Intervertebral space narrowing
chpo_term: 椎间隙变窄
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0002943
hpo_term: Thoracic scoliosis
chpo_term: 胸部脊柱侧弯
id: HP:0003952
hpo_term: Sclerotic foci of metaphyses of the elbow
chpo_term: 肘关节干骺端硬化灶
Disease (OMIM:186100):
SYNDACTYLY, TYPE III
Syndactyly, type III

Associated phenotypes (HPO):
id: HP:0009162
hpo_term: Absent middle phalanx of 5th finger
chpo_term: 第五指中节指骨缺失
id: HP:0011939
hpo_term: 3-4 finger cutaneous syndactyly
chpo_term: 第三-四指皮肤性并指
id: HP:0010705
hpo_term: 4-5 finger syndactyly
chpo_term: 第四-五指并指
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0009237
hpo_term: Short 5th finger
chpo_term: 第五指发育不全或不发育
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617442):
Premature ovarian failure 13
PREMATURE OVARIAN FAILURE 13

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000013
hpo_term: Hypoplasia of the uterus
chpo_term: 子宫发育不良
id: HP:0000141
hpo_term: Amenorrhea
chpo_term: 闭经
id: HP:0008222
hpo_term: Female infertility
chpo_term: 女性不孕症
id: HP:0008232
hpo_term: Elevated circulating follicle stimulating hormone level
chpo_term: 血液卵泡刺激素水平升高
id: HP:0000876
hpo_term: Oligomenorrhea
chpo_term: 月经稀发
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:106700):
TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1
Total anomalous pulmonary venous return 1

Associated phenotypes (HPO):
id: HP:0001651
hpo_term: Dextrocardia
chpo_term: 右位心
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0005160
hpo_term: Total anomalous pulmonary venous return
chpo_term: 完全性肺静脉回流异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:611755):
Leber congenital amaurosis 10
LEBER CONGENITAL AMAUROSIS 10

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004409
hpo_term: Hyposmia
chpo_term: 嗅觉减退
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
Disease (OMIM:600880):
BUDD-CHIARI SYNDROME
Budd-Chiari syndrome

Associated phenotypes (HPO):
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0002639
hpo_term: Budd-Chiari syndrome
chpo_term: Budd-Chiari综合征
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001402
hpo_term: Hepatocellular carcinoma
chpo_term: 肝细胞癌
Disease (OMIM:227010):
Ermine phenotype
ERMINE PHENOTYPE

Associated phenotypes (HPO):
id: HP:0001045
hpo_term: Vitiligo
chpo_term: 白癜风
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0005585
hpo_term: Spotty hyperpigmentation
chpo_term: 点滴状色素沉着
id: HP:0011364
hpo_term: White hair
chpo_term: 白发
id: HP:0008034
hpo_term: Abnormal iris pigmentation
chpo_term: 虹膜异常色素沉着
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002227
hpo_term: White eyelashes
chpo_term: 白睫
id: HP:0002226
hpo_term: White eyebrow
chpo_term: 白眉
Disease (OMIM:600670):
Varicella, severe recurrent
VARICELLA, SEVERE RECURRENT

Associated phenotypes (HPO):
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0005428
hpo_term: Severe recurrent varicella
chpo_term: 重症复发性水痘
Disease (OMIM:619321):
GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES
Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies

Associated phenotypes (HPO):
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0000185
hpo_term: Cleft soft palate
chpo_term: 软腭裂
id: HP:0012743
hpo_term: Abdominal obesity
chpo_term: 腹型肥胖
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0008278
hpo_term: Cerebellar cortical atrophy
chpo_term: 小脑皮质萎缩
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
id: HP:0002157
hpo_term: Azotemia
chpo_term: 氮质血症
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0007513
hpo_term: Generalized hypopigmentation
chpo_term: 泛发性色素减退
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0430009
hpo_term: Hypoplasia of eyelid
chpo_term: 眼睑发育不全
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0008724
hpo_term: Hypoplasia of the ovary
chpo_term: 卵巢发育不良
Disease (OMIM:604416):
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne
PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE

Associated phenotypes (HPO):
id: HP:0025452
hpo_term: Pyoderma gangrenosum
chpo_term: 坏疽性脓皮病
id: HP:0025452
hpo_term: Pyoderma gangrenosum
chpo_term: 坏疽性脓皮病
id: HP:0001894
hpo_term: Thrombocytosis
chpo_term: 血小板增多症
id: HP:0002583
hpo_term: Colitis
chpo_term: 结肠炎
id: HP:0001061
hpo_term: Acne
chpo_term: 痤疮
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0012393
hpo_term: Allergy
chpo_term: 过敏
id: HP:0040310
hpo_term: Sterile arthritis
chpo_term: 无菌性关节炎
id: HP:0100658
hpo_term: Cellulitis
chpo_term: 蜂窝织炎
id: HP:0033188
hpo_term: Cystic acne
chpo_term: 囊肿性痤疮
id: HP:0001935
hpo_term: Microcytic anemia
chpo_term: 小细胞性贫血
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0025616
hpo_term: Sterile abscess
chpo_term: 无菌性脓肿
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
Disease (OMIM:314380):
UNIQUE GREEN PHENOMENON
Unique green phenomenon

Associated phenotypes (HPO):
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
Disease (OMIM:187550):
Thalassemia, beta+, silent allele
THALASSEMIA, BETA+, SILENT ALLELE

Associated phenotypes (HPO):
id: HP:0011906
hpo_term: Reduced beta/alpha synthesis ratio
chpo_term: β/α合成比减低
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:614163):
Delayed sleep phase disorder, susceptibility to
DELAYED SLEEP PHASE DISORDER, SUSCEPTIBILITY TO

Associated phenotypes (HPO):
id: HP:0031354
hpo_term: Sleep onset insomnia
chpo_term: 入睡困难型失眠
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:604370):
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
Breast-Ovarian cancer, familial, susceptibility to, 1

Associated phenotypes (HPO):
id: HP:0003002
hpo_term: Breast carcinoma
chpo_term: 乳腺癌
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0100615
hpo_term: Ovarian neoplasm
chpo_term: 卵巢肿瘤
id: HP:0001426
hpo_term: Multifactorial inheritance
chpo_term: 多因素遗传
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:609654):
SHORT STATURE AND FACIOAURICULOTHORACIC MALFORMATIONS
Short stature and facioauriculothoracic malformations

Associated phenotypes (HPO):
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0000891
hpo_term: Cervical ribs
chpo_term: 颈肋
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003310
hpo_term: Abnormality of the odontoid process
chpo_term: 齿状突异常
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003508
hpo_term: Proportionate short stature
chpo_term: 成比例身材矮小
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:183050):
SPINOCEREBELLAR ATAXIA WITH RIGIDITY AND PERIPHERAL NEUROPATHY
Spinocerebellar ataxia with rigidity and peripheral neuropathy

Associated phenotypes (HPO):
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:600116):
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
Parkinson disease, juvenile, type 2

Associated phenotypes (HPO):
id: HP:0002322
hpo_term: Resting tremor
chpo_term: 静止性震颤
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002362
hpo_term: Shuffling gait
chpo_term: 曳行步态
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0025387
hpo_term: Pill-rolling tremor
chpo_term: 搓丸样震颤
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0025710
hpo_term: Late young adult onset
chpo_term: 青年成人晚期起病
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002375
hpo_term: Hypokinesia
chpo_term: 运动减少
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002396
hpo_term: Cogwheel rigidity
chpo_term: 齿轮样强直
id: HP:0004373
hpo_term: Focal dystonia
chpo_term: 局限性肌张力障碍
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0011960
hpo_term: Substantia nigra gliosis
chpo_term: 黑质神经胶质增生
id: HP:0100315
hpo_term: Lewy bodies
chpo_term: 路易体
id: HP:0025708
hpo_term: Early young adult onset
chpo_term: 青年成人早期起病
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
Disease (OMIM:616760):
WOOLLY HAIR, AUTOSOMAL RECESSIVE 3
Woolly hair, autosomal recessive 3

Associated phenotypes (HPO):
id: HP:0002212
hpo_term: Curly hair
chpo_term: 卷曲样发
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0009886
hpo_term: Trichorrhexis nodosa
chpo_term: 结节性脆发症
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
Disease (OMIM:619453):
MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE
Microcephaly 28, primary, autosomal recessive

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:609640):
FRIAS SYNDROME
Frias syndrome

Associated phenotypes (HPO):
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:234050):
TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE
Trichothiodystrophy 4, nonphotosensitive

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0002224
hpo_term: Woolly hair
chpo_term: 羊毛状发
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000144
hpo_term: Decreased fertility
chpo_term: 生育能力下降
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0006829
hpo_term: Severe muscular hypotonia
chpo_term: 严重的肌张力减退
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0001097
hpo_term: Keratoconjunctivitis sicca
chpo_term: 干燥性角结膜炎
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0009886
hpo_term: Trichorrhexis nodosa
chpo_term: 结节性脆发症
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002299
hpo_term: Brittle hair
chpo_term: 毛发干枯
id: HP:0010719
hpo_term: Abnormality of hair texture
chpo_term: 发质异常
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0001338
hpo_term: Partial agenesis of the corpus callosum
chpo_term: 局部胼胝体发育不全
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0001598
hpo_term: Concave nail
chpo_term: 反甲
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000685
hpo_term: Hypoplasia of teeth
chpo_term: 牙齿发育不全
Disease (OMIM:613618):
CHROMOSOME 17q23.1-q23.2 DUPLICATION SYNDROME
Chromosome 17q23.1-q23.2 duplication syndrome

Associated phenotypes (HPO):
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0008807
hpo_term: Acetabular dysplasia
chpo_term: 髋臼发育不良
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:604364):
Epilepsy, familial focal, with variable foci
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1

Associated phenotypes (HPO):
id: HP:0032051
hpo_term: Focal cortical dysplasia type II
chpo_term: 局灶性皮质发育不良II型
id: HP:0032052
hpo_term: Focal cortical dysplasia type IIa
chpo_term: 局灶性皮质发育不良IIa型
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0032046
hpo_term: Focal cortical dysplasia
chpo_term: 局灶性皮质发育不良
id: HP:0032047
hpo_term: Focal cortical dysplasia type I
chpo_term: 局灶性皮质发育不良I型
id: HP:0031951
hpo_term: Nocturnal seizures
chpo_term: 夜间癫痫发作
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0007206
hpo_term: Hemimegalencephaly
chpo_term: 偏侧巨脑/偏侧巨脑畸形
Disease (OMIM:191440):
Ulnar hypoplasia
ULNAR HYPOPLASIA

Associated phenotypes (HPO):
id: HP:0003022
hpo_term: Hypoplasia of the ulna
chpo_term: 尺骨发育不良
id: HP:0009487
hpo_term: Ulnar deviation of the hand
chpo_term: 手向尺侧偏斜
id: HP:0005033
hpo_term: Distal ulnar hypoplasia
chpo_term: 尺骨远端发育不良
id: HP:0005011
hpo_term: Mesomelic arm shortening
chpo_term: 臂中段缩短
id: HP:0006433
hpo_term: Radial dysplasia
chpo_term: 桡骨发育不良
id: HP:0002986
hpo_term: Radial bowing
chpo_term: 桡骨弯曲
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
Disease (OMIM:615269):
Hypogonadotropic hypogonadism 19 with or without anosmia
HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA

Associated phenotypes (HPO):
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:612260):
Immunodeficiency 68
IMMUNODEFICIENCY 68

Associated phenotypes (HPO):
id: HP:0005403
hpo_term: T lymphocytopenia
chpo_term: T淋巴细胞减少症
id: HP:0002840
hpo_term: Lymphadenitis
chpo_term: 淋巴结炎
id: HP:0006946
hpo_term: Recurrent meningitis
chpo_term: 复发性脑膜炎
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0040089
hpo_term: Abnormal natural killer cell count
chpo_term: 自然杀伤细胞数量异常
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0003095
hpo_term: Septic arthritis
chpo_term: 化脓性关节炎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0032434
hpo_term: Delayed umbilical cord separation
chpo_term: 脐带延迟分离
id: HP:0010976
hpo_term: B lymphocytopenia
chpo_term: B淋巴细胞减少症
id: HP:0025615
hpo_term: Abscess
chpo_term: 脓肿