TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:616638):
SMITH-KINGSMORE SYNDROME
Smith-Kingsmore syndrome

Associated phenotypes (HPO):
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001355
hpo_term: Megalencephaly
chpo_term: 巨脑
id: HP:0005257
hpo_term: Thoracic hypoplasia
chpo_term: 胸廓发育不全
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0006191
hpo_term: Deep palmar crease
chpo_term: 掌褶纹深
id: HP:0012650
hpo_term: Perisylvian polymicrogyria
chpo_term: 外侧裂周区多小脑回
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001869
hpo_term: Deep plantar creases
chpo_term: 跖部深褶
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0007206
hpo_term: Hemimegalencephaly
chpo_term: 偏侧巨脑/偏侧巨脑畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002212
hpo_term: Curly hair
chpo_term: 卷曲样发
id: HP:0001540
hpo_term: Diastasis recti
chpo_term: 腹直肌分离
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0001520
hpo_term: Large for gestational age
chpo_term: 大于胎龄儿
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0034295
hpo_term: Reduced cerebral white matter volume
chpo_term: 脑白质容积减少
id: HP:0010241
hpo_term: Short proximal phalanx of finger
chpo_term: 近节指骨短小
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
Disease (OMIM:601344):
SPINAL DYSPLASIA, ANHALT TYPE
Spinal dysplasia, Anhalt type

Associated phenotypes (HPO):
id: HP:0004268
hpo_term: Osteoarthritis of the small joints of the hand
chpo_term: 手的小关节的骨关节炎
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008473
hpo_term: Narrow anterio-posterior vertebral body diameter
chpo_term: 椎体前后径狭窄
id: HP:0008464
hpo_term: Absent spinous processes of lower thoracic and lumbar vertebrae
chpo_term: 下部胸椎和腰椎的棘突缺如
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0002944
hpo_term: Thoracolumbar scoliosis
chpo_term: 胸腰脊柱侧弯
id: HP:0008423
hpo_term: Spinal dysplasia
chpo_term: 脊柱发育不良
id: HP:0008467
hpo_term: Thoracic hemivertebrae
chpo_term: 胸椎半椎体
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617526):
Erythrokeratodermia variabilis et progressiva 4
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0025092
hpo_term: Epidermal acanthosis
chpo_term: 表皮棘皮症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0007479
hpo_term: Congenital nonbullous ichthyosiform erythroderma
chpo_term: 鱼鳞病样红皮病(大疱型)、大疱性鱼鳞病样角化过度症、显性遗传性先天性鱼鳞病、表皮松解性角化过度鱼鳞病
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
Disease (OMIM:618173):
RETINITIS PIGMENTOSA 83
Retinitis pigmentosa 83

Associated phenotypes (HPO):
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
id: HP:0100832
hpo_term: Vitreous floaters
chpo_term: 玻璃体漂浮物
id: HP:0007737
hpo_term: Bone spicule pigmentation of the retina
chpo_term: 骨针样视网膜色素沉着
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0030672
hpo_term: Asteroid hyalosis
chpo_term: 星状玻璃体变性
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0011505
hpo_term: Cystoid macular edema
chpo_term: 囊样黄斑水肿
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0007787
hpo_term: Posterior subcapsular cataract
chpo_term: 后囊下白内障
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:611631):
Epilepsy, familial temporal lobe, 4
EPILEPSY, FAMILIAL TEMPORAL LOBE, 4

Associated phenotypes (HPO):
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0002077
hpo_term: Migraine with aura
chpo_term: 有先兆偏头痛
id: HP:0011165
hpo_term: Focal sensory seizure with visual features
chpo_term: 伴有视觉特征的局灶性感觉发作
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0008765
hpo_term: Auditory hallucinations
chpo_term: 幻听
id: HP:0002349
hpo_term: Focal aware seizure
chpo_term: 知觉保留的局灶性发作
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:210900):
BLOOM SYNDROME
Bloom syndrome

Associated phenotypes (HPO):
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0006528
hpo_term: Chronic lung disease
chpo_term: 慢性肺病
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0005598
hpo_term: Facial telangiectasia in butterfly midface distribution
chpo_term: 面部毛细血管蝶状扩张
id: HP:0002860
hpo_term: Squamous cell carcinoma
chpo_term: 鳞状细胞癌
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0025300
hpo_term: Malar rash
chpo_term: 颧部皮疹
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0005590
hpo_term: Spotty hypopigmentation
chpo_term: 点滴状色素减退
id: HP:0001909
hpo_term: Leukemia
chpo_term: 白血病
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0040012
hpo_term: Chromosome breakage
chpo_term: 染色体断裂
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0040217
hpo_term: Elevated hemoglobin A1c
chpo_term: 糖化血红蛋白水平增高
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0003220
hpo_term: Abnormality of chromosome stability
chpo_term: 染色体稳定性异常
id: HP:0001041
hpo_term: Facial erythema
chpo_term: 面部红斑
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0001161
hpo_term: Hand polydactyly
chpo_term: 多指
id: HP:0000690
hpo_term: Agenesis of maxillary lateral incisor
chpo_term: 上颌侧切牙发育不全
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000868
hpo_term: Decreased fertility in females
chpo_term: 女性生育能力降低
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
id: HP:0000027
hpo_term: Azoospermia
chpo_term: 无精症
Disease (OMIM:614749):
Hyperphosphatasia with mental retardation syndrome 2
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2

Associated phenotypes (HPO):
id: HP:0002025
hpo_term: Anal stenosis
chpo_term: 肛门狭窄
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0011316
hpo_term: Left unicoronal synostosis
chpo_term: 左侧冠状缝闭合
id: HP:0001804
hpo_term: Hypoplastic fingernail
chpo_term: 指甲发育不良
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0006118
hpo_term: Shortening of all distal phalanges of the fingers
chpo_term: 手指的所有远端指骨缩短
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0011326
hpo_term: Anterior plagiocephaly
chpo_term: 前斜头畸形
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004969
hpo_term: Peripheral pulmonary artery stenosis
chpo_term: 周围肺动脉狭窄
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
Disease (OMIM:262400):
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA
Growth hormone deficiency, isolated, type IA

Associated phenotypes (HPO):
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0004474
hpo_term: Persistent open anterior fontanelle
chpo_term: 前囟持续不闭合
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:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0034323
hpo_term: Reduced circulating growth hormone concentration
chpo_term: 循环生长激素水平降低
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
Disease (OMIM:617268):
Neurodevelopmental disorder with hypotonia, seizures, and absent language
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0100023
hpo_term: Recurrent hand flapping
chpo_term: 反复用手拍打
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0040288
hpo_term: Nasogastric tube feeding
chpo_term: 鼻胃管灌食
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:300291):
Ectodermal dysplasia and immunodeficiency 1
ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1

Associated phenotypes (HPO):
id: HP:0002961
hpo_term: Dysgammaglobulinemia
chpo_term: 异常丙种球蛋白血症
id: HP:0410242
hpo_term: Abnormal circulating IgG level
chpo_term: 血液IgG异常
id: HP:0003496
hpo_term: Increased circulating IgM level
chpo_term: 循环IgM水平升高
id: HP:0003261
hpo_term: Increased circulating IgA level
chpo_term: 循环IgA升高
id: HP:0040042
hpo_term: Aplasia of the eccrine sweat glands
chpo_term: 外泌汗腺不发育
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0012177
hpo_term: Abnormal natural killer cell physiology
chpo_term: 自然杀伤细胞生理功能异常
id: HP:0032163
hpo_term: Molluscum contagiosum
chpo_term: 接触传染性软疣
id: HP:0000968
hpo_term: Ectodermal dysplasia
chpo_term: 外胚层发育不良
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0031692
hpo_term: Severe cytomegalovirus infection
chpo_term: 重症巨细胞病毒感染
id: HP:0011065
hpo_term: Conical incisor
chpo_term: 锥状切牙
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
Disease (OMIM:215850):
CLEFT-LIMB-HEART MALFORMATION SYNDROME
Cleft-Limb-Heart malformation syndrome

Associated phenotypes (HPO):
id: HP:0001660
hpo_term: Truncus arteriosus
chpo_term: 动脉干
id: HP:0001507
hpo_term: Growth abnormality
chpo_term: 生长异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
Disease (OMIM:619245):
Premature ovarian failure 19
PREMATURE OVARIAN FAILURE 19

Associated phenotypes (HPO):
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
id: HP:0000869
hpo_term: Secondary amenorrhea
chpo_term: 继发性闭经
id: HP:0000858
hpo_term: Irregular menstruation
chpo_term: 月经不调
id: HP:0008222
hpo_term: Female infertility
chpo_term: 女性不孕症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:616176):
BLEEDING DISORDER, PLATELET-TYPE, 19
Bleeding disorder, platelet-type, 19

Associated phenotypes (HPO):
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0000132
hpo_term: Menorrhagia
chpo_term: 月经过多症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0007420
hpo_term: Spontaneous hematomas
chpo_term: 自发性血肿
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0040185
hpo_term: Macrothrombocytopenia
chpo_term: 巨血小板减少症
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
Disease (OMIM:609056):
Salt and pepper developmental regression syndrome
SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0001034
hpo_term: Hypermelanotic macule
chpo_term: 色素沉着斑
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0002283
hpo_term: Global brain atrophy
chpo_term: 全脑萎缩
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0010841
hpo_term: Multifocal epileptiform discharges
chpo_term: 多灶性痫样放电
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0012391
hpo_term: Hyporeflexia of upper limbs
chpo_term: 上肢反射减弱
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0006834
hpo_term: Developmental stagnation at onset of seizures
chpo_term: 癫痫发病后的发育停滞
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
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:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:612310):
Premature ovarian failure 6
PREMATURE OVARIAN FAILURE 6

Associated phenotypes (HPO):
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
id: HP:0000013
hpo_term: Hypoplasia of the uterus
chpo_term: 子宫发育不良
id: HP:0001470
hpo_term: Sex-limited expression
chpo_term: 限性表达
id: HP:0000869
hpo_term: Secondary amenorrhea
chpo_term: 继发性闭经
id: HP:0011969
hpo_term: Elevated circulating luteinizing hormone level
chpo_term: 血液黄体生成素水平升高
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:0010464
hpo_term: Streak ovary
chpo_term: 条索状卵巢
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
Disease (OMIM:266100):
EPILEPSY, PYRIDOXINE-DEPENDENT
Epilepsy, pyridoxine-dependent

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:6000268
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0010851
hpo_term: EEG with burst suppression
chpo_term: EEG伴爆发抑制
id: HP:0034365
hpo_term: Elevated circulating alpha-aminoadipic semialdehyde concentration
chpo_term: 循环α-氨基己二酸半醛水平升高
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0020221
hpo_term: Clonic seizure
chpo_term: 阵挛性癫痫发作
id: HP:0025116
hpo_term: Fetal distress
chpo_term: 胎儿窘迫
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0001557
hpo_term: Prenatal movement abnormality
chpo_term: 产前胎动异常
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:619523):
Anemia, sideroblastic, 5
ANEMIA, SIDEROBLASTIC, 5

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0004840
hpo_term: Hypochromic microcytic anemia
chpo_term: 低色素性小红细胞性贫血
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0004828
hpo_term: Refractory anemia with ringed sideroblasts
chpo_term: 难治性贫血伴环状铁粒幼红细胞
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0031851
hpo_term: Reduced hematocrit
chpo_term: 红细胞压积减低
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
Disease (OMIM:600072):
FATAL FAMILIAL INSOMNIA
Fatal familial insomnia

Associated phenotypes (HPO):
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0012332
hpo_term: Abnormal autonomic nervous system physiology
chpo_term: 自主神经系统生理功能异常
id: HP:0100785
hpo_term: Insomnia
chpo_term: 失眠
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0006790
hpo_term: Cerebral cortex with spongiform changes
chpo_term: 大脑皮质海绵状改变
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0002529
hpo_term: Neuronal loss in central nervous system
chpo_term: 中枢神经系统神经元损失
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0000016
hpo_term: Urinary retention
chpo_term: 尿潴留