Disease (OMIM:123790):
Beare-Stevenson cutis gyrata syndrome
BEARE-STEVENSON CUTIS GYRATA SYNDROME

Associated phenotypes (HPO):
id: HP:0007517
hpo_term: Palmoplantar cutis laxa
chpo_term: 掌跖皮肤松弛
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:6000950
id: HP:0010609
hpo_term: Skin tags
chpo_term: 皮赘
id: HP:0001804
hpo_term: Hypoplastic fingernail
chpo_term: 指甲发育不良
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0020049
hpo_term: Exodeviation
chpo_term: 外斜视
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0005469
hpo_term: Flat occiput
chpo_term: 枕骨扁平
id: HP:0003246
hpo_term: Prominent scrotal raphe
chpo_term: 阴囊中缝突出
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0000695
hpo_term: Natal tooth
chpo_term: 胎生牙齿
id: HP:0000452
hpo_term: Choanal stenosis
chpo_term: 鼻后孔狭窄
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0004450
hpo_term: Preauricular skin furrow
chpo_term: 耳前皮肤皱褶
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0009891
hpo_term: Underdeveloped supraorbital ridges
chpo_term: 眶上嵴发育不全
id: HP:0002308
hpo_term: Chiari malformation
chpo_term: 小脑扁桃体下疝畸形
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0004467
hpo_term: Preauricular pit
chpo_term: 耳前凹陷
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0000189
hpo_term: Narrow palate
chpo_term: 上腭狭窄
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0010541
hpo_term: Cutis gyrata of scalp
chpo_term: 头皮回状纹
id: HP:0034361
hpo_term: Redundant umbilical skin
chpo_term: 脐部皮肤过多
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000059
hpo_term: Hypoplastic labia majora
chpo_term: 大阴唇发育不良
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0005989
hpo_term: Redundant neck skin
chpo_term: 颈部皮肤增厚
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0002676
hpo_term: Cloverleaf skull
chpo_term: 分叶状颅
id: HP:0001545
hpo_term: Anteriorly placed anus
chpo_term: 肛门前置
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0100876
hpo_term: Infra-orbital crease
chpo_term: 下睑皱纹
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出