Disease (ORPHA:289):
Chondroectodermal dysplasia
Mesodermic dysplasia
Ellis Van Creveld syndrome

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0001161
hpo_term: Hand polydactyly
chpo_term: 多指
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0001654
hpo_term: Abnormal heart valve morphology
chpo_term: 心脏瓣膜形态异常
id: HP:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
id: HP:0001829
hpo_term: Foot polydactyly
chpo_term: 多趾
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0006695
hpo_term: Atrioventricular canal defect
chpo_term: 房室管缺损
id: HP:0008921
hpo_term: Neonatal short-limb short stature
chpo_term: 新生儿短肢型矮小
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0010306
hpo_term: Short thorax
chpo_term: 胸部短小
id: HP:0011830
hpo_term: Abnormal oral mucosa morphology
chpo_term: 口腔黏膜形态异常
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000039
hpo_term: Epispadias
chpo_term: 尿道上裂
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000069
hpo_term: Abnormality of the ureter
chpo_term: 输尿管异常
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000190
hpo_term: Abnormal oral frenulum morphology
chpo_term: 口腔系带形态异常
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0001241
hpo_term: Capitate-hamate fusion
chpo_term: 头状骨-钩骨融合
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
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:0001651
hpo_term: Dextrocardia
chpo_term: 右位心
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0002644
hpo_term: Abnormal pelvic girdle bone morphology
chpo_term: 骨盆带骨形态异常
id: HP:0006703
hpo_term: Aplasia/Hypoplasia of the lungs
chpo_term: 肺发育缺陷/不全
id: HP:0011065
hpo_term: Conical incisor
chpo_term: 锥状切牙
id: HP:0000008
hpo_term: Abnormal morphology of female internal genitalia
chpo_term: 女性内生殖器形态异常
id: HP:0000072
hpo_term: Hydroureter
chpo_term: 输尿管积水
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002097
hpo_term: Emphysema
chpo_term: 气肿
id: HP:0002488
hpo_term: Acute leukemia
chpo_term: 急性白血病
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002967
hpo_term: Cubitus valgus
chpo_term: 肘外翻
id: HP:0005048
hpo_term: Synostosis of carpal bones
chpo_term: 腕骨骨性融合
id: HP:0005561
hpo_term: Abnormality of bone marrow cell morphology
chpo_term: 骨髓细胞形态异常
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0011362
hpo_term: Abnormal hair quantity
chpo_term: 毛发数量异常