Disease (OMIM:308205):
IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME
IFAP syndrome with or without BRESHECK syndrome

Associated phenotypes (HPO):
id: HP:0002223
hpo_term: Absent eyebrow
chpo_term: 无眉
id: HP:0000561
hpo_term: Absent eyelashes
chpo_term: 睫毛缺失
id: HP:0002542
hpo_term: Olivopontocerebellar atrophy
chpo_term: 橄榄桥脑小脑萎缩
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0005254
hpo_term: Unilateral chest hypoplasia
chpo_term: 单侧胸部发育不全
id: HP:0100565
hpo_term: Hydromyelia
chpo_term: 脊髓积水
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000495
hpo_term: Recurrent corneal erosions
chpo_term: 复发性角膜糜烂
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000452
hpo_term: Choanal stenosis
chpo_term: 鼻后孔狭窄
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0100257
hpo_term: Ectrodactyly
chpo_term: 缺趾/指畸形
id: HP:0011496
hpo_term: Corneal neovascularization
chpo_term: 角膜新生血管
id: HP:0000968
hpo_term: Ectodermal dysplasia
chpo_term: 外胚层发育不良
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0002308
hpo_term: Chiari malformation
chpo_term: 小脑扁桃体下疝畸形
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0001019
hpo_term: Erythroderma
chpo_term: 剥脱性皮炎
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0003316
hpo_term: Butterfly vertebrae
chpo_term: 蝴蝶椎
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0033425
hpo_term: Periungual erythema
chpo_term: 甲周红斑
id: HP:0008392
hpo_term: Subungual hyperkeratosis
chpo_term: 甲下角化过度
id: HP:0008391
hpo_term: Dystrophic fingernails
chpo_term: 指甲营养不良
id: HP:0008391
hpo_term: Dystrophic fingernails
chpo_term: 指甲营养不良
id: HP:0031291
hpo_term: Ichthyosis follicularis
chpo_term: 毛囊性鱼鳞病
id: HP:0500262
hpo_term: Atrichia
chpo_term: 无毛症
id: HP:0033195
hpo_term: Perianal erythema
chpo_term: 肛周红斑
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0007502
hpo_term: Follicular hyperkeratosis
chpo_term: 克尔里病，贯穿性角化过度病
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0000110
hpo_term: Renal dysplasia
chpo_term: 肾发育不良
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
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:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如