Disease (ORPHA:464321):
Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
Multifocal lymphangioendotheliomatosis with thrombocytopenia
Cutaneovisceral angiomatosis-thrombocytopenia syndrome
MLT

Associated phenotypes (HPO):
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0011121
hpo_term: Abnormality of skin morphology
chpo_term: 皮肤形态异常
id: HP:0012718
hpo_term: Morphological abnormality of the gastrointestinal tract
chpo_term: 胃肠道形态异常
id: HP:0025015
hpo_term: Abnormal vascular morphology
chpo_term: 血管形态异常
id: HP:0002088
hpo_term: Abnormal lung morphology
chpo_term: 肺部形态异常
id: HP:0002170
hpo_term: Intracranial hemorrhage
chpo_term: 颅内出血
id: HP:0011354
hpo_term: Generalized abnormality of skin
chpo_term: 泛发性皮肤异常
id: HP:0025474
hpo_term: Erythematous plaque
chpo_term: 红斑
id: HP:0030350
hpo_term: Erythematous papule
chpo_term: 红色丘疹
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000759
hpo_term: Abnormal peripheral nervous system morphology
chpo_term: 周围神经系统形态异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0001392
hpo_term: Abnormality of the liver
chpo_term: 肝脏异常
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0002011
hpo_term: Morphological central nervous system abnormality
chpo_term: 中枢神经系统的形态异常
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0002248
hpo_term: Hematemesis
chpo_term: 呕血
id: HP:0002249
hpo_term: Melena
chpo_term: 黑便
id: HP:0002573
hpo_term: Hematochezia
chpo_term: 便血
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0003304
hpo_term: Spondylolysis
chpo_term: 峡部裂
id: HP:0009139
hpo_term: Osteolysis involving bones of the lower limbs
chpo_term: 下肢骨骼骨质溶解
id: HP:0011035
hpo_term: Abnormal renal cortex morphology
chpo_term: 肾皮质形态异常
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0031368
hpo_term: Intestinal perforation
chpo_term: 肠穿孔
id: HP:0045039
hpo_term: Osteolysis involving bones of the upper limbs
chpo_term: 上肢骨骼溶骨
id: HP:0000573
hpo_term: Retinal hemorrhage
chpo_term: 视网膜出血
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002134
hpo_term: Abnormal basal ganglia morphology
chpo_term: 基底节形态异常
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0003273
hpo_term: Hip contracture
chpo_term: 髋关节挛缩
id: HP:0007902
hpo_term: Vitreous hemorrhage
chpo_term: 玻璃体出血
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0010536
hpo_term: Central sleep apnea
chpo_term: 中枢性睡眠呼吸暂停
id: HP:0025064
hpo_term: Thalamic hemorrhage
chpo_term: 丘脑出血
id: HP:0025085
hpo_term: Bloody diarrhea
chpo_term: 便血
id: HP:0025420
hpo_term: Diffuse alveolar hemorrhage
chpo_term: 弥漫性肺泡出血
id: HP:0031938
hpo_term: Abnormal conus terminalis morphology
chpo_term: 圆锥体末端形态异常
id: HP:0040242
hpo_term: Muscle hemorrhage
chpo_term: 肌肉出血