Disease (ORPHA:3472):
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
Yunis-Varon syndrome

Associated phenotypes (HPO):
id: HP:0009881
hpo_term: Aplasia of the distal phalanges of the hand
chpo_term: 末节指骨发育不全
id: HP:0010102
hpo_term: Aplasia of the distal phalanx of the hallux
chpo_term: 拇趾末节趾骨发育不全
id: HP:0010107
hpo_term: Short proximal phalanx of hallux
chpo_term: 拇趾近节指骨短
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000188
hpo_term: Short upper lip
chpo_term: 上唇短小
id: HP:0000216
hpo_term: Broad secondary alveolar ridge
chpo_term: 宽恒牙槽嵴
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
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:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000647
hpo_term: Sclerocornea
chpo_term: 角膜巩膜化
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0001167
hpo_term: Abnormality of finger
chpo_term: 手指异常
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001525
hpo_term: Severe failure to thrive
chpo_term: 严重生长障碍
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0001840
hpo_term: Metatarsus adductus
chpo_term: 跖内收
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002139
hpo_term: Arrhinencephaly
chpo_term: 无鼻无脑畸形
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
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:0002696
hpo_term: Abnormal parietal bone morphology
chpo_term: 顶骨形态异常
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004331
hpo_term: Decreased skull ossification
chpo_term: 颅骨骨化减少
id: HP:0005793
hpo_term: Shortening of all distal phalanges of the toes
chpo_term: 全部脚趾远节趾骨缩短
id: HP:0005819
hpo_term: Short middle phalanx of finger
chpo_term: 中节指骨短
id: HP:0005989
hpo_term: Redundant neck skin
chpo_term: 颈部皮肤增厚
id: HP:0006323
hpo_term: Premature loss of primary teeth
chpo_term: 乳牙过早脱落
id: HP:0006628
hpo_term: Absent sternal ossification
chpo_term: 胸骨骨化缺如
id: HP:0006709
hpo_term: Aplasia/Hypoplasia of the nipples
chpo_term: 乳头发育不全/不良
id: HP:0006710
hpo_term: Aplasia/Hypoplasia of the clavicles
chpo_term: 锁骨发育不良/发育不全
id: HP:0007333
hpo_term: Hypoplasia of the frontal lobes
chpo_term: 额叶发育不良
id: HP:0007633
hpo_term: Bilateral microphthalmos
chpo_term: 双侧小眼畸形
id: HP:0008386
hpo_term: Aplasia/Hypoplasia of the nails
chpo_term: 甲发育缺陷/不全
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0008935
hpo_term: Generalized neonatal hypotonia
chpo_term: 全身性新生儿肌张力低下
id: HP:0009381
hpo_term: Short finger
chpo_term: 短指畸形
id: HP:0009777
hpo_term: Absent thumb
chpo_term: 拇指缺如
id: HP:0010035
hpo_term: Aplasia of the 1st metacarpal
chpo_term: 第一掌骨发育不全
id: HP:0010067
hpo_term: Aplasia/hypoplasia of the 1st metatarsal
chpo_term: 第一跖骨发育不良或发育不全
id: HP:0010537
hpo_term: Wide cranial sutures
chpo_term: 颅缝增宽
id: HP:0011061
hpo_term: Abnormality of dental structure
chpo_term: 牙齿结构异常
id: HP:0011451
hpo_term: Primary microcephaly
chpo_term: 先天性小头畸形
id: HP:0012294
hpo_term: Abnormal occipital bone morphology
chpo_term: 枕骨形态异常
id: HP:0040163
hpo_term: Abnormal pelvis bone morphology
chpo_term: 盆骨形态异常
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000059
hpo_term: Hypoplastic labia majora
chpo_term: 大阴唇发育不良
id: HP:0000162
hpo_term: Glossoptosis
chpo_term: 舌后坠
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0001920
hpo_term: Renal artery stenosis
chpo_term: 肾动脉狭窄
id: HP:0002021
hpo_term: Pyloric stenosis
chpo_term: 幽门狭窄
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0003015
hpo_term: Flared metaphysis
chpo_term: 喇叭状干骺端
id: HP:0004993
hpo_term: Slender long bones with narrow diaphyses
chpo_term: 长骨细长伴骨干狭窄
id: HP:0006713
hpo_term: Aplasia/Hypoplasia of the scapulae
chpo_term: 肩胛骨发育不良/发育不全
id: HP:0008665
hpo_term: Clitoral hypertrophy
chpo_term: 阴蒂肥大
id: HP:0010880
hpo_term: Increased nuchal translucency
chpo_term: 颈部透明层厚度增加
id: HP:0012809
hpo_term: Narrow nasal base
chpo_term: 鼻基狭窄
id: HP:0030816
hpo_term: Gingival recession
chpo_term: 牙龈退缩
id: HP:0100817
hpo_term: Renovascular hypertension
chpo_term: 肾血管性高血压
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症