Disease (ORPHA:2135):
Mastocytosis-short stature-hearing loss syndrome
Cutaneous mastocytosis-hearing loss-microtia syndrome
Mastocytosis-short stature-deafness syndrome
Cutaneous mastocytosis-deafness-microtia syndrome

Associated phenotypes (HPO):
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0100559
hpo_term: Lower limb asymmetry
chpo_term: 下肢不对称
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000270
hpo_term: Delayed cranial suture closure
chpo_term: 颅缝闭合延迟
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0003189
hpo_term: Long nose
chpo_term: 长鼻
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0007400
hpo_term: Irregular hyperpigmentation
chpo_term: 不规则色素沉着
id: HP:0007440
hpo_term: Generalized hyperpigmentation
chpo_term: 泛发性色素沉着
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
id: HP:0100326
hpo_term: Immunologic hypersensitivity
chpo_term: 免疫过敏
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0100495
hpo_term: Mastocytosis
chpo_term: 肥大细胞增多症
id: HP:0100585
hpo_term: Telangiectasia of the skin
chpo_term: 皮肤毛细血管扩张
id: HP:0100725
hpo_term: Lichenification
chpo_term: 苔藓样变
id: HP:0200037
hpo_term: Skin vesicle
chpo_term: 表皮水疱