Disease (ORPHA:699):
PMPS
Pearson syndrome
Pearson marrow-pancreas syndrome

Associated phenotypes (HPO):
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0001923
hpo_term: Reticulocytosis
chpo_term: 网织红细胞增多症
id: HP:0003348
hpo_term: Hyperalaninemia
chpo_term: 高丙氨酸血症
id: HP:0003648
hpo_term: Lacticaciduria
chpo_term: 乳酸血症
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
id: HP:0005561
hpo_term: Abnormality of bone marrow cell morphology
chpo_term: 骨髓细胞形态异常
id: HP:0032169
hpo_term: Severe infection
chpo_term: 重度感染
id: HP:0032653
hpo_term: Elevated lactate:pyruvate ratio
chpo_term: 乳酸/丙酮酸比例升高
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001738
hpo_term: Exocrine pancreatic insufficiency
chpo_term: 胰腺外分泌功能不全
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0012040
hpo_term: Corneal stromal edema
chpo_term: 角膜基质水肿
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
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:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001392
hpo_term: Abnormality of the liver
chpo_term: 肝脏异常
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0002148
hpo_term: Hypophosphatemia
chpo_term: 低磷血症
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002570
hpo_term: Steatorrhea
chpo_term: 脂肪泻
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0002917
hpo_term: Hypomagnesemia
chpo_term: 低镁血症
id: HP:0003076
hpo_term: Glycosuria
chpo_term: 糖尿
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0031546
hpo_term: Cardiac conduction abnormality
chpo_term: 心脏传导异常
id: HP:0032066
hpo_term: Decreased serum bicarbonate concentration
chpo_term: 血清碳酸氢盐浓度降低
id: HP:0100732
hpo_term: Pancreatic fibrosis
chpo_term: 胰腺纤维化
id: HP:0200118
hpo_term: Malabsorption of Vitamin B12
chpo_term: 维生素B12吸收不良
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000829
hpo_term: Hypoparathyroidism
chpo_term: 甲状旁腺功能减退症
id: HP:0000846
hpo_term: Adrenal insufficiency
chpo_term: 肾上腺功能不全
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0006270
hpo_term: Hypoplastic spleen
chpo_term: 脾脏发育不全
id: HP:0006577
hpo_term: Macronodular cirrhosis
chpo_term: 大结节性肝硬化
id: HP:0009099
hpo_term: Median cleft palate
chpo_term: 正中腭裂