Disease (OMIM:190350):
TRICHORHINOPHALANGEAL SYNDROME, TYPE I
Trichorhinophalangeal syndrome, type I

Associated phenotypes (HPO):
id: HP:0003279
hpo_term: Coxa magna
chpo_term: 髋膨大
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004363
hpo_term: Abnormal circulating calcium concentration
chpo_term: 钙稳态平衡异常
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0045074
hpo_term: Thin eyebrow
chpo_term: 细眉
id: HP:0010252
hpo_term: Ivory epiphyses of the distal phalanges of the hand
chpo_term: 末节指骨象牙色骨骺
id: HP:0100529
hpo_term: Abnormal blood phosphate concentration
chpo_term: 磷酸盐稳态平衡异常
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002217
hpo_term: Slow-growing hair
chpo_term: 毛发生长缓慢
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0004379
hpo_term: Abnormality of alkaline phosphatase level
chpo_term: 碱性磷酸酶活性异常
id: HP:0005743
hpo_term: Avascular necrosis of the capital femoral epiphysis
chpo_term: 股骨头骨骺缺血性坏死
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0001816
hpo_term: Thin nail
chpo_term: 薄甲
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0000447
hpo_term: Pear-shaped nose
chpo_term: 梨形鼻
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0005338
hpo_term: Sparse lateral eyebrow
chpo_term: 眉尖稀疏
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000189
hpo_term: Narrow palate
chpo_term: 上腭狭窄
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0003370
hpo_term: Flat capital femoral epiphysis
chpo_term: 股骨近端骨骺扁平
id: HP:0010300
hpo_term: Abnormally low-pitched voice
chpo_term: 异常低声调
id: HP:0010743
hpo_term: Short metatarsal
chpo_term: 短跖骨
id: HP:0010270
hpo_term: Cone-shaped epiphyses of the proximal phalanges of the hand
chpo_term: 近节指骨锥形骨骺
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0006253
hpo_term: Swelling of proximal interphalangeal joints
chpo_term: 近端指（趾）关节肿胀
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0001820
hpo_term: Leukonychia
chpo_term: 白甲
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0011823
hpo_term: Chin with horizontal crease
chpo_term: 髁唇沟凹陷
id: HP:0010259
hpo_term: Cone-shaped epiphyses of the middle phalanges of the hand
chpo_term: 中节指骨锥形骨骺
id: HP:0002805
hpo_term: Accelerated bone age after puberty
chpo_term: 青春期后骨龄加速
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0001598
hpo_term: Concave nail
chpo_term: 反甲
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌