Disease (OMIM:218330):
CRANIOECTODERMAL DYSPLASIA 1
Cranioectodermal dysplasia

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0003038
hpo_term: Fibular hypoplasia
chpo_term: 腓骨发育不良
id: HP:0001970
hpo_term: Tubulointerstitial nephritis
chpo_term: 肾小管间质性肾炎
id: HP:0004442
hpo_term: Sagittal craniosynostosis
chpo_term: 矢状缝早闭
id: HP:0003071
hpo_term: Flattened epiphysis
chpo_term: 扁平骨骺
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0012623
hpo_term: Stage 1 chronic kidney disease
chpo_term: 慢性肾病1期
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0009466
hpo_term: Radial deviation of finger
chpo_term: 手指桡侧偏斜
id: HP:0001407
hpo_term: Hepatic cysts
chpo_term: 肝囊肿
id: HP:0002217
hpo_term: Slow-growing hair
chpo_term: 毛发生长缓慢
id: HP:0000674
hpo_term: Anodontia
chpo_term: 无牙畸形
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0001816
hpo_term: Thin nail
chpo_term: 薄甲
id: HP:0000968
hpo_term: Ectodermal dysplasia
chpo_term: 外胚层发育不良
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001538
hpo_term: Protuberant abdomen
chpo_term: 腹部隆凸
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0030799
hpo_term: Scaphocephaly
chpo_term: 舟状头
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0005792
hpo_term: Short humerus
chpo_term: 肱骨短
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0010306
hpo_term: Short thorax
chpo_term: 胸部短小
id: HP:0032612
hpo_term: Triphalangeal hallux
chpo_term: 三趾节拇趾
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0009880
hpo_term: Broad distal phalanges of all fingers
chpo_term: 所有手指末节指骨变宽
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0005567
hpo_term: Renal magnesium wasting
chpo_term: 肾脏镁消耗
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0001837
hpo_term: Broad toe
chpo_term: 宽趾
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0006563
hpo_term: Malformation of the hepatic ductal plate
chpo_term: 肝管板畸形
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0001799
hpo_term: Short nail
chpo_term: 短甲
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾