TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:1519):
SPECC1L-related hypertelorism syndrome
Teebi hypertelorism syndrome
Brachycephalofrontonasal dysplasia

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000049
hpo_term: Shawl scrotum
chpo_term: 披肩状阴囊
id: HP:0000086
hpo_term: Ectopic kidney
chpo_term: 异位肾
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000349
hpo_term: Widow's peak
chpo_term: 美人尖
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
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:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004467
hpo_term: Preauricular pit
chpo_term: 耳前凹陷
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0006288
hpo_term: Advanced eruption of teeth
chpo_term: 牙齿过早萌出
id: HP:0010458
hpo_term: Female pseudohermaphroditism
chpo_term: 女性假两性畸形
id: HP:0010751
hpo_term: Dimple chin
chpo_term: 下巴浅凹
id: HP:0011039
hpo_term: Abnormal helix morphology
chpo_term: 耳轮形态异常
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
Disease (ORPHA:54251):
Disseminated aseptic abscesses
Aseptic abscess syndrome
Aseptic systemic abscesses
Corticosteroid-sensitive aseptic abscess syndrome
Aseptic abscesses syndrome

Associated phenotypes (HPO):
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002733
hpo_term: Abnormality of the lymph nodes
chpo_term: 淋巴结异常
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0011897
hpo_term: Neutrophilia
chpo_term: 中性粒细胞增多症
id: HP:0100523
hpo_term: Liver abscess
chpo_term: 肝脓肿
id: HP:0000035
hpo_term: Abnormal testis morphology
chpo_term: 睾丸形态异常
id: HP:0001732
hpo_term: Abnormality of the pancreas
chpo_term: 胰腺异常
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002088
hpo_term: Abnormal lung morphology
chpo_term: 肺部形态异常
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0030049
hpo_term: Brain abscess
chpo_term: 脑脓肿
id: HP:0100763
hpo_term: Abnormality of the lymphatic system
chpo_term: 淋巴系统异常
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
Disease (ORPHA:1517):
Congenital hypertrichosis-acromegaloid facial features spectrum
Congenital hypertrichosis-coarse facial features spectrum
Cantú syndrome
Hypertrichotic osteochondrodysplasia

Associated phenotypes (HPO):
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000885
hpo_term: Broad ribs
chpo_term: 宽肋骨
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001654
hpo_term: Abnormal heart valve morphology
chpo_term: 心脏瓣膜形态异常
id: HP:0001869
hpo_term: Deep plantar creases
chpo_term: 跖部深褶
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0003300
hpo_term: Ovoid vertebral bodies
chpo_term: 卵形椎体
id: HP:0004634
hpo_term: Cuboid-shaped vertebral bodies
chpo_term: 立方体形椎体
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0007665
hpo_term: Curly eyelashes
chpo_term: 睫毛卷翘
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0010059
hpo_term: Broad hallux phalanx
chpo_term: 拇趾骨变宽
id: HP:0010109
hpo_term: Short hallux
chpo_term: 短拇趾
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
Disease (ORPHA:90790):
Lipoid CAH
Congenital lipoid adrenal hyperplasia due to STAR deficency
LCAH
CLAH

Associated phenotypes (HPO):
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0003154
hpo_term: Increased circulating ACTH level
chpo_term: 血促肾上腺皮质激素（ACTH）水平升高
id: HP:0008730
hpo_term: Female external genitalia in individual with 46,XY karyotype
chpo_term: 染色体核型为46,XY的个体具有女性外生殖器
id: HP:0000055
hpo_term: Abnormality of female external genitalia
chpo_term: 女性外生殖器异常
id: HP:0000841
hpo_term: Hyperactive renin-angiotensin system
chpo_term: 肾素-血管紧张素系统亢进
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0008163
hpo_term: Decreased circulating cortisol level
chpo_term: 血皮质醇水平降低
id: HP:0008221
hpo_term: Adrenal hyperplasia
chpo_term: 肾上腺增生
id: HP:0030347
hpo_term: Abnormal circulating androgen level
chpo_term: 循环雄激素水平异常
id: HP:0000037
hpo_term: Male pseudohermaphroditism
chpo_term: 男性假两性畸形
id: HP:0000053
hpo_term: Macroorchidism
chpo_term: 巨睾
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0010885
hpo_term: Avascular necrosis
chpo_term: 缺血性坏死
id: HP:0003002
hpo_term: Breast carcinoma
chpo_term: 乳腺癌
id: HP:0012114
hpo_term: Endometrial carcinoma
chpo_term: 子宫内膜癌
id: HP:0040187
hpo_term: Neonatal sepsis
chpo_term: 新生儿败血症
Disease (ORPHA:1516):
Non-syndromic bilambdoid and sagittal craniosynostosis
Bilateral lambdoid and sagittal synostosis
Isolated sagittal and bilambdoid craniosynostosis
Non-syndromic sagittal and bilateral lambdoid synostosis
BLSS

Associated phenotypes (HPO):
id: HP:0000163
hpo_term: Abnormal oral cavity morphology
chpo_term: 口腔形态异常
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
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:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000402
hpo_term: Stenosis of the external auditory canal
chpo_term: 外耳道狭窄
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
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:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0001052
hpo_term: Nevus flammeus
chpo_term: 鲜红斑痣
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0009891
hpo_term: Underdeveloped supraorbital ridges
chpo_term: 眶上嵴发育不全
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
Disease (ORPHA:90791):
CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

Associated phenotypes (HPO):
id: HP:0008258
hpo_term: Congenital adrenal hyperplasia
chpo_term: 先天性肾上腺增生症
id: HP:0000033
hpo_term: Ambiguous genitalia, male
chpo_term: 男性外阴性别不明
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000061
hpo_term: Ambiguous genitalia, female
chpo_term: 女性外阴性别不明
id: HP:0000127
hpo_term: Renal salt wasting
chpo_term: 肾源性盐流失
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0000848
hpo_term: Increased circulating renin level
chpo_term: 血肾素水平升高
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0001998
hpo_term: Neonatal hypoglycemia
chpo_term: 新生儿低血糖
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0004319
hpo_term: Decreased circulating aldosterone level
chpo_term: 醛固酮减少症
id: HP:0008163
hpo_term: Decreased circulating cortisol level
chpo_term: 血皮质醇水平降低
id: HP:0008665
hpo_term: Clitoral hypertrophy
chpo_term: 阴蒂肥大
id: HP:0011749
hpo_term: Adrenocorticotropic hormone excess
chpo_term: 促肾上腺皮质激素过多
id: HP:0012041
hpo_term: Decreased fertility in males
chpo_term: 男性生育能力下降
id: HP:0025380
hpo_term: Increased circulating androstenedione concentration
chpo_term: 血液雄烯二酮升高
id: HP:0030088
hpo_term: Increased serum testosterone level
chpo_term: 血清睾酮水平增高
id: HP:0031213
hpo_term: Elevated circulating 17-hydroxyprogesterone
chpo_term: 循环17-羟孕酮升高
id: HP:0040171
hpo_term: Decreased serum testosterone concentration
chpo_term: 血清睾酮水平降低
id: HP:0500022
hpo_term: Abnormal circulating dehydroepiandrosterone concentration
chpo_term: 血液脱氢表雄酮水平异常
id: HP:0000027
hpo_term: Azoospermia
chpo_term: 无精症
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000037
hpo_term: Male pseudohermaphroditism
chpo_term: 男性假两性畸形
id: HP:0000808
hpo_term: Penoscrotal hypospadias
chpo_term: 阴茎阴囊型尿道下裂
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0008730
hpo_term: Female external genitalia in individual with 46,XY karyotype
chpo_term: 染色体核型为46,XY的个体具有女性外生殖器
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0012412
hpo_term: Premature adrenarche
chpo_term: 肾上腺功能早现
id: HP:0012768
hpo_term: Neonatal asphyxia
chpo_term: 新生儿窒息
id: HP:0012881
hpo_term: Abnormal labia majora morphology
chpo_term: 大阴唇形态异常
Disease (ORPHA:488618):
Short stature-developmental delay-congenital heart defect syndrome
TKT deficiency
Transketolase deficiency

Associated phenotypes (HPO):
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0003508
hpo_term: Proportionate short stature
chpo_term: 成比例身材矮小
id: HP:0025550
hpo_term: Elevated circulating ribitol concentration
chpo_term: 核糖醇浓度增高
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000554
hpo_term: Uveitis
chpo_term: 葡萄膜炎
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0410072
hpo_term: Increased level of ribose in urine
chpo_term: 尿液核糖水平增高
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0000869
hpo_term: Secondary amenorrhea
chpo_term: 继发性闭经
id: HP:0001051
hpo_term: Seborrheic dermatitis
chpo_term: 脂溢性皮炎
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0011686
hpo_term: Abnormal coronary artery course
chpo_term: 冠状动脉走行异常
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
Disease (ORPHA:1515):
CED
Sensenbrenner syndrome
Cranioectodermal dysplasia

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
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:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000679
hpo_term: Taurodontia
chpo_term: 牙髓腔增大
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000940
hpo_term: Abnormal diaphysis morphology
chpo_term: 骨干形态异常
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0008388
hpo_term: Abnormal toenail morphology
chpo_term: 趾甲形态异常
id: HP:0008499
hpo_term: High hypermetropia
chpo_term: 高度远视
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
Disease (ORPHA:1514):
Scott-Bryant-Graham syndrome
Scott craniodigital syndrome
Craniodigital-intellectual disability syndrome

Associated phenotypes (HPO):
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000446
hpo_term: Narrow nasal bridge
chpo_term: 鼻梁狭窄
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003298
hpo_term: Spina bifida occulta
chpo_term: 隐性脊柱裂
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0007477
hpo_term: Abnormal dermatoglyphics
chpo_term: 皮纹异常
id: HP:0010720
hpo_term: Abnormal hair pattern
chpo_term: 毛发分布异常
id: HP:0100874
hpo_term: Thick hair
chpo_term: 浓发
Disease (ORPHA:2840):
Ray-Peterson-Scott syndrome
Pelvic dysplasia-arthrogryposis of lower limbs syndrome

Associated phenotypes (HPO):
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0003100
hpo_term: Slender long bone
chpo_term: 长骨修长
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003298
hpo_term: Spina bifida occulta
chpo_term: 隐性脊柱裂
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0008839
hpo_term: Hypoplastic pelvis
chpo_term: 骨盆发育不良
id: HP:0010767
hpo_term: Sacrococcygeal pilonidal abnormality
chpo_term: 骶尾部藏毛异常
Disease (ORPHA:90793):
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
CAH due to 17-alpha-hydroxylase deficiency
Combined 17-hydroxylase/17,20-lyase deficiency

Associated phenotypes (HPO):
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000837
hpo_term: Increased circulating gonadotropin level
chpo_term: 促性腺激素水平升高
id: HP:0008258
hpo_term: Congenital adrenal hyperplasia
chpo_term: 先天性肾上腺增生症
id: HP:0031074
hpo_term: Abnormal response to ACTH stimulation test
chpo_term: ACTH刺激试验反应异常
id: HP:0032330
hpo_term: Increased urinary 11-deoxycorticosterone level
chpo_term: 尿11-脱氧皮质酮水平升高
id: HP:0032362
hpo_term: Increased circulating corticosterone level
chpo_term: 血液皮质酮水平升高
id: HP:0040171
hpo_term: Decreased serum testosterone concentration
chpo_term: 血清睾酮水平降低
id: HP:0500022
hpo_term: Abnormal circulating dehydroepiandrosterone concentration
chpo_term: 血液脱氢表雄酮水平异常
id: HP:0000026
hpo_term: Male hypogonadism
chpo_term: 男性性腺功能减退症
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000138
hpo_term: Ovarian cyst
chpo_term: 卵巢囊肿
id: HP:0000144
hpo_term: Decreased fertility
chpo_term: 生育能力下降
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000858
hpo_term: Irregular menstruation
chpo_term: 月经不调
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0003351
hpo_term: Decreased circulating renin level
chpo_term: 血肾素水平降低
id: HP:0004319
hpo_term: Decreased circulating aldosterone level
chpo_term: 醛固酮减少症
id: HP:0008163
hpo_term: Decreased circulating cortisol level
chpo_term: 血皮质醇水平降低
id: HP:0008187
hpo_term: Absence of secondary sex characteristics
chpo_term: 第二性征缺乏
id: HP:0008197
hpo_term: Absence of pubertal development
chpo_term: 青春期发育缺失
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:0008689
hpo_term: Bilateral cryptorchidism
chpo_term: 双侧隐睾
id: HP:0011749
hpo_term: Adrenocorticotropic hormone excess
chpo_term: 促肾上腺皮质激素过多
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:0031216
hpo_term: Increased circulating progesterone
chpo_term: 循环孕激素升高
id: HP:0000033
hpo_term: Ambiguous genitalia, male
chpo_term: 男性外阴性别不明
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:0000151
hpo_term: Aplasia of the uterus
chpo_term: 子宫发育不全
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002221
hpo_term: Absent axillary hair
chpo_term: 腋毛稀疏
id: HP:0002555
hpo_term: Absent pubic hair
chpo_term: 阴毛缺失
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0008207
hpo_term: Primary adrenal insufficiency
chpo_term: 原发性肾上腺功能不全
id: HP:0008730
hpo_term: Female external genitalia in individual with 46,XY karyotype
chpo_term: 染色体核型为46,XY的个体具有女性外生殖器
id: HP:0010465
hpo_term: Precocious puberty in females
chpo_term: 女性性早熟
id: HP:0040314
hpo_term: Blind vagina
chpo_term: 盲端阴道
Disease (ORPHA:1513):
Craniodiaphyseal dysplasia

Associated phenotypes (HPO):
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000402
hpo_term: Stenosis of the external auditory canal
chpo_term: 外耳道狭窄
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004493
hpo_term: Craniofacial hyperostosis
chpo_term: 颅面骨骨质增生
id: HP:0005019
hpo_term: Diaphyseal thickening
chpo_term: 骨干增粗
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
Disease (ORPHA:2841):
Benign chronic familial pemphigus
Hailey-Hailey disease

Associated phenotypes (HPO):
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0100792
hpo_term: Acantholysis
chpo_term: 皮肤棘层松解
id: HP:0200041
hpo_term: Skin erosion
chpo_term: 皮肤糜烂
id: HP:0200037
hpo_term: Skin vesicle
chpo_term: 表皮水疱
Disease (ORPHA:1512):
Crane-Heise syndrome

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:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
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:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000882
hpo_term: Hypoplastic scapulae
chpo_term: 肩胛骨发育不全
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0004331
hpo_term: Decreased skull ossification
chpo_term: 颅骨骨化减少
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0006660
hpo_term: Aplastic clavicle
chpo_term: 锁骨发育不全
id: HP:0007370
hpo_term: Aplasia/Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育缺陷/发育不全
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0100569
hpo_term: Abnormally ossified vertebrae
chpo_term: 椎骨异常骨化