Disease (OMIM:612651):
ENDOCRINE-CEREBROOSTEODYSPLASIA

Associated phenotypes (HPO):
id: HP:0001331
hpo_term: Absent septum pellucidum
chpo_term: 透明隔缺如
id: HP:0002982
hpo_term: Tibial bowing
chpo_term: 胫骨弯曲
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0000161
hpo_term: Median cleft lip
chpo_term: 正中唇裂
id: HP:0007360
hpo_term: Aplasia/Hypoplasia of the cerebellum
chpo_term: 小脑发育缺陷/发育不全
id: HP:0004719
hpo_term: Hyperechogenic kidneys
chpo_term: 肾脏回声增强
id: HP:0000437
hpo_term: Depressed nasal tip
chpo_term: 鼻尖凹陷
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000835
hpo_term: Adrenal hypoplasia
chpo_term: 肾上腺发育不良
id: HP:0030260
hpo_term: Microphallus
chpo_term: 阴茎过小
id: HP:0000695
hpo_term: Natal tooth
chpo_term: 胎生牙齿
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0100336
hpo_term: Bilateral cleft lip
chpo_term: 双侧唇裂
id: HP:0100259
hpo_term: Postaxial polydactyly
chpo_term: 轴后多指（趾）
id: HP:0100258
hpo_term: Preaxial polydactyly
chpo_term: 轴前多指（趾）
id: HP:0009099
hpo_term: Median cleft palate
chpo_term: 正中腭裂
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0003956
hpo_term: Bowed forearm bones
chpo_term: 前臂骨弯曲
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0008749
hpo_term: Laryngeal hypoplasia
chpo_term: 喉发育不全
id: HP:0001234
hpo_term: Hitchhiker thumb
chpo_term: “打车手势”拇指
id: HP:0001552
hpo_term: Barrel-shaped chest
chpo_term: 桶状胸
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0030674
hpo_term: Antenatal onset
chpo_term: 出生前发病
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0010502
hpo_term: Fibular bowing
chpo_term: 腓骨弯曲
id: HP:0009487
hpo_term: Ulnar deviation of the hand
chpo_term: 手向尺侧偏斜
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
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:0000215
hpo_term: Thick upper lip vermilion
chpo_term: 厚上红唇
id: HP:0005349
hpo_term: Hypoplasia of the epiglottis
chpo_term: 会厌发育不良
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0001360
hpo_term: Holoprosencephaly
chpo_term: 前脑无裂畸形
id: HP:0032466
hpo_term: Aplasia of the olfactory bulb
chpo_term: 嗅球不发育
id: HP:0012245
hpo_term: Sex reversal
chpo_term: 性反转
id: HP:0032471
hpo_term: Focal polymicrogyria
chpo_term: 局灶性多微小脑回
id: HP:0009755
hpo_term: Ankyloblepharon
chpo_term: 睑缘粘连
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000105
hpo_term: Enlarged kidney
chpo_term: 肾脏肿大
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌