Disease (OMIM:269860):
SHORT-RIB THORACIC DYSPLASIA 12
Short-rib thoracic dysplasia 12

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000882
hpo_term: Hypoplastic scapulae
chpo_term: 肩胛骨发育不全
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0000161
hpo_term: Median cleft lip
chpo_term: 正中唇裂
id: HP:0009381
hpo_term: Short finger
chpo_term: 短指畸形
id: HP:0002979
hpo_term: Bowing of the legs
chpo_term: 腿弯曲
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001405
hpo_term: Periportal fibrosis
chpo_term: 门静脉周围纤维化
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0001769
hpo_term: Broad foot
chpo_term: 宽足
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001169
hpo_term: Broad palm
chpo_term: 宽掌
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000695
hpo_term: Natal tooth
chpo_term: 胎生牙齿
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0011802
hpo_term: Hamartoma of tongue
chpo_term: 舌错构瘤
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0009099
hpo_term: Median cleft palate
chpo_term: 正中腭裂
id: HP:0000800
hpo_term: Cystic renal dysplasia
chpo_term: 囊性肾发育不良
id: HP:0000888
hpo_term: Horizontal ribs
chpo_term: 横位肋骨
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0001538
hpo_term: Protuberant abdomen
chpo_term: 腹部隆凸
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0002323
hpo_term: Anencephaly
chpo_term: 无脑畸形
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0000180
hpo_term: Lobulated tongue
chpo_term: 分叶舌
id: HP:0100750
hpo_term: Atelectasis
chpo_term: 肺不张
id: HP:0010306
hpo_term: Short thorax
chpo_term: 胸部短小
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0002557
hpo_term: Hypoplastic nipples
chpo_term: 乳头发育不良
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0001360
hpo_term: Holoprosencephaly
chpo_term: 前脑无裂畸形
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0006488
hpo_term: Bowing of the arm
chpo_term: 手臂弯曲
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0006644
hpo_term: Thoracic dysplasia
chpo_term: 胸廓发育不良
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾