Disease (ORPHA:672):
Pallister-Hall syndrome
Hypothalamic hamartoblastoma syndrome

Associated phenotypes (HPO):
id: HP:0002444
hpo_term: Hypothalamic hamartoma
chpo_term: 下丘脑错构瘤
id: HP:0000110
hpo_term: Renal dysplasia
chpo_term: 肾发育不良
id: HP:0000191
hpo_term: Accessory oral frenulum
chpo_term: 额外口腔系带
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000695
hpo_term: Natal tooth
chpo_term: 胎生牙齿
id: HP:0000902
hpo_term: Rib fusion
chpo_term: 肋骨融合
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0002937
hpo_term: Hemivertebrae
chpo_term: 半椎体
id: HP:0002986
hpo_term: Radial bowing
chpo_term: 桡骨弯曲
id: HP:0003048
hpo_term: Radial head subluxation
chpo_term: 桡骨头半脱位
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005917
hpo_term: Supernumerary metacarpal bones
chpo_term: 额外掌骨
id: HP:0006136
hpo_term: Bilateral postaxial polydactyly
chpo_term: 双侧轴后性多指/趾
id: HP:0008213
hpo_term: Gonadotropin deficiency
chpo_term: 促性腺激素缺乏症
id: HP:0008240
hpo_term: Secondary growth hormone deficiency
chpo_term: 继发性生长激素缺乏症
id: HP:0008245
hpo_term: Pituitary hypothyroidism
chpo_term: 垂体性甲状腺功能减退症
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0008751
hpo_term: Laryngeal cleft
chpo_term: 喉裂
id: HP:0009958
hpo_term: Polydactyly affecting the 3rd finger
chpo_term: 第三指多指
id: HP:0009971
hpo_term: Polydactyly affecting the 4th finger
chpo_term: 第四指多指
id: HP:0010044
hpo_term: Short 4th metacarpal
chpo_term: 第四掌骨短
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0011734
hpo_term: Central adrenal insufficiency
chpo_term: 中枢性肾上腺功能不全
id: HP:0011748
hpo_term: Adrenocorticotropic hormone deficiency
chpo_term: 促肾上腺皮质激素不足
id: HP:0011939
hpo_term: 3-4 finger cutaneous syndactyly
chpo_term: 第三-四指皮肤性并指
id: HP:0012751
hpo_term: Abnormal basal ganglia MRI signal intensity
chpo_term: 核磁共振基底节异常信
id: HP:0040075
hpo_term: Hypopituitarism
chpo_term: 垂体功能减退
id: HP:0040086
hpo_term: Abnormal prolactin level
chpo_term: 催乳素水平异常
id: HP:0100260
hpo_term: Mesoaxial polydactyly
chpo_term: 中轴多指（趾）
id: HP:0200117
hpo_term: Recurrent upper and lower respiratory tract infections
chpo_term: 上下呼吸道反复感染
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000086
hpo_term: Ectopic kidney
chpo_term: 异位肾
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0000171
hpo_term: Microglossia
chpo_term: 小舌畸形
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000273
hpo_term: Facial grimacing
chpo_term: 面部表情痛苦
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0000749
hpo_term: Paroxysmal bursts of laughter
chpo_term: 阵发性大笑
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0000835
hpo_term: Adrenal hypoplasia
chpo_term: 肾上腺发育不良
id: HP:0000871
hpo_term: Panhypopituitarism
chpo_term: 全垂体功能减退
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001273
hpo_term: Abnormal corpus callosum morphology
chpo_term: 胼胝体形态异常
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001360
hpo_term: Holoprosencephaly
chpo_term: 前脑无裂畸形
id: HP:0001520
hpo_term: Large for gestational age
chpo_term: 大于胎龄儿
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0001837
hpo_term: Broad toe
chpo_term: 宽趾
id: HP:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0002101
hpo_term: Abnormal lung lobation
chpo_term: 肺分叶异常
id: HP:0005990
hpo_term: Thyroid hypoplasia
chpo_term: 甲状腺发育不良
id: HP:0006695
hpo_term: Atrioventricular canal defect
chpo_term: 房室管缺损
id: HP:0007601
hpo_term: Midline facial capillary hemangioma
chpo_term: 面中线毛细血管瘤
id: HP:0008207
hpo_term: Primary adrenal insufficiency
chpo_term: 原发性肾上腺功能不全
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0010564
hpo_term: Bifid epiglottis
chpo_term: 会厌分叉
id: HP:0010821
hpo_term: Focal emotional seizure with laughing
chpo_term: 伴大笑的局灶情绪性发作
id: HP:0012165
hpo_term: Oligodactyly
chpo_term: 少指（趾）畸形
id: HP:0030021
hpo_term: Auricular tag
chpo_term: 耳赘
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000243
hpo_term: Trigonocephaly
chpo_term: 三角头畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002139
hpo_term: Arrhinencephaly
chpo_term: 无鼻无脑畸形
id: HP:0005684
hpo_term: Distal arthrogryposis
chpo_term: 远端关节挛缩
id: HP:0008684
hpo_term: Aplasia/hypoplasia of the uterus
chpo_term: 子宫发育不全/发育不良
id: HP:0010958
hpo_term: Bilateral renal agenesis
chpo_term: 双肾缺如
id: HP:0011026
hpo_term: Aplasia/Hypoplasia of the vagina
chpo_term: 阴道发育不全/发育不良
id: HP:0030010
hpo_term: Hydrometrocolpos
chpo_term: 子宫阴道积水
id: HP:0030431
hpo_term: Osteochondroma
chpo_term: 骨软骨瘤
id: HP:0030799
hpo_term: Scaphocephaly
chpo_term: 舟状头