Disease (ORPHA:226307):
Hypothyroidism due to deficient transcription factors involved in pituitary development or function

Associated phenotypes (HPO):
id: HP:0008245
hpo_term: Pituitary hypothyroidism
chpo_term: 垂体性甲状腺功能减退症
id: HP:0031098
hpo_term: Decreased thyroid-stimulating hormone level
chpo_term: 促甲状腺激素水平降低
id: HP:0031219
hpo_term: Reduced radioactive iodine uptake
chpo_term: 放射性碘摄取减少
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000270
hpo_term: Delayed cranial suture closure
chpo_term: 颅缝闭合延迟
id: HP:0000282
hpo_term: Facial edema
chpo_term: 面部水肿
id: HP:0000871
hpo_term: Panhypopituitarism
chpo_term: 全垂体功能减退
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002045
hpo_term: Hypothermia
chpo_term: 低体温
id: HP:0004491
hpo_term: Large posterior fontanelle
chpo_term: 大后囟
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0005990
hpo_term: Thyroid hypoplasia
chpo_term: 甲状腺发育不良
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0008202
hpo_term: Reduced circulating prolactin concentration
chpo_term: 泌乳素水平下降
id: HP:0008828
hpo_term: Delayed proximal femoral epiphyseal ossification
chpo_term: 股骨近端骨骺骨化延迟
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0010627
hpo_term: Anterior pituitary hypoplasia
chpo_term: 垂体前叶发育不全
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0031507
hpo_term: Decreased circulating T4 concentration
chpo_term: 循环T4水平降低
id: HP:0040075
hpo_term: Hypopituitarism
chpo_term: 垂体功能减退
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0000839
hpo_term: Pituitary dwarfism
chpo_term: 垂体性侏儒症
id: HP:0001161
hpo_term: Hand polydactyly
chpo_term: 多指
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001317
hpo_term: Abnormal cerebellum morphology
chpo_term: 小脑形态异常
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002920
hpo_term: Decreased circulating ACTH level
chpo_term: 血促肾上腺皮质激素水平降低
id: HP:0004637
hpo_term: Decreased cervical spine mobility
chpo_term: 颈椎活动度下降
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0009381
hpo_term: Short finger
chpo_term: 短指畸形
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0011755
hpo_term: Ectopic posterior pituitary
chpo_term: 垂体后叶异位
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0025502
hpo_term: Overweight
chpo_term: 超重
id: HP:0030341
hpo_term: Decreased circulating follicle stimulating hormone concentration
chpo_term: 循环卵泡刺激素浓度降低
id: HP:0030344
hpo_term: Decreased circulating luteinizing hormone level
chpo_term: 循环黄体生成素水平降低
id: HP:0031218
hpo_term: Inappropriate antidiuretic hormone secretion
chpo_term: 抗利尿激素分泌失衡
id: HP:0011437
hpo_term: Maternal autoimmune disease
chpo_term: 母体自身免疫性疾病
id: HP:0025483
hpo_term: Abnormal circulating thyroglobulin level
chpo_term: 循环甲状腺球蛋白水平异常