Disease (ORPHA:96149):
Distal deletion 12q syndrome
Distal monosomy 12q
Telomeric deletion 12q
Monosomy 12qter

Associated phenotypes (HPO):
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0009437
hpo_term: Aplasia/Hypoplasia of the middle phalanx of the 3rd finger
chpo_term: 第三指中节指骨发育不良/发育不全
id: HP:0012741
hpo_term: Unilateral cryptorchidism
chpo_term: 单侧隐睾
id: HP:0004904
hpo_term: Maturity-onset diabetes of the young
chpo_term: 青少年发病的成人型糖尿病
id: HP:0000113
hpo_term: Polycystic kidney dysplasia
chpo_term: 多囊肾性发育不良
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0009904
hpo_term: Prominent ear helix
chpo_term: 耳轮突出
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000171
hpo_term: Microglossia
chpo_term: 小舌畸形
id: HP:0001176
hpo_term: Large hands
chpo_term: 巨手
id: HP:0001833
hpo_term: Long foot
chpo_term: 长足
id: HP:0011407
hpo_term: Proportionate tall stature
chpo_term: 成比例高身材
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0010818
hpo_term: Generalized tonic seizure
chpo_term: 全面性强直发作
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
id: HP:0008770
hpo_term: Obsessive-compulsive trait
chpo_term: 强迫特质
id: HP:0000742
hpo_term: Self-mutilation
chpo_term: 自残
id: HP:0000086
hpo_term: Ectopic kidney
chpo_term: 异位肾
id: HP:0002893
hpo_term: Pituitary adenoma
chpo_term: 垂体腺瘤
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
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:0005129
hpo_term: Congenital hypertrophy of left ventricle
chpo_term: 先天性左心室肥厚
id: HP:0008499
hpo_term: High hypermetropia
chpo_term: 高度远视
id: HP:0007573
hpo_term: Late onset atopic dermatitis
chpo_term: 迟发型过敏性皮炎
id: HP:0008513
hpo_term: Bilateral conductive hearing impairment
chpo_term: 双侧传导性听觉障碍
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0009891
hpo_term: Underdeveloped supraorbital ridges
chpo_term: 眶上嵴发育不全
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000161
hpo_term: Median cleft lip
chpo_term: 正中唇裂
id: HP:0011069
hpo_term: Supernumerary tooth
chpo_term: 多生牙
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0002021
hpo_term: Pyloric stenosis
chpo_term: 幽门狭窄
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0008081
hpo_term: Pes valgus
chpo_term: 足外翻
id: HP:0002032
hpo_term: Esophageal atresia
chpo_term: 食管闭锁
id: HP:0002247
hpo_term: Duodenal atresia
chpo_term: 十二指肠闭锁
id: HP:0001734
hpo_term: Annular pancreas
chpo_term: 环状胰
id: HP:0005912
hpo_term: Biliary atresia
chpo_term: 胆道闭锁
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0005819
hpo_term: Short middle phalanx of finger
chpo_term: 中节指骨短
id: HP:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0006533
hpo_term: Bronchodysplasia
chpo_term: 支气管软骨发育不全
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0002003
hpo_term: Large forehead
chpo_term: 大额头
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽