Disease (ORPHA:2785):
Renal tubular acidosis type 3
Osteopetrosis with renal tubular acidosis
Mixed RTA
Carbonic anhydrase 2 deficiency
Guibaud-Vainsel syndrome
Mixed renal tubular acidosis
Marble brain disease

Associated phenotypes (HPO):
id: HP:0001947
hpo_term: Renal tubular acidosis
chpo_term: 肾小管性酸中毒
id: HP:0011002
hpo_term: Osteopetrosis
chpo_term: 骨硬化
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001293
hpo_term: Cranial nerve compression
chpo_term: 颅神经受压
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002049
hpo_term: Proximal renal tubular acidosis
chpo_term: 近端肾小管酸中毒
id: HP:0002135
hpo_term: Basal ganglia calcification
chpo_term: 基底节钙化
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0003148
hpo_term: Elevated serum acid phosphatase
chpo_term: 血清酸性磷酸酶升高
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008341
hpo_term: Distal renal tubular acidosis
chpo_term: 远端肾小管性酸中毒
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
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:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000479
hpo_term: Abnormal retinal morphology
chpo_term: 视网膜形态异常
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000692
hpo_term: Tooth malposition
chpo_term: 牙列不齐
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0000867
hpo_term: Secondary hyperparathyroidism
chpo_term: 继发性甲状旁腺功能亢进症
id: HP:0001105
hpo_term: Retinal atrophy
chpo_term: 视网膜萎缩
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002518
hpo_term: Abnormal periventricular white matter morphology
chpo_term: 脑室周围白质形态异常
id: HP:0002684
hpo_term: Thickened calvaria
chpo_term: 颅骨过厚
id: HP:0004445
hpo_term: Elliptocytosis
chpo_term: 椭圆形红细胞增多症
id: HP:0005461
hpo_term: Craniofacial disproportion
chpo_term: 颅面比例失调
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
id: HP:0006335
hpo_term: Persistence of primary teeth
chpo_term: 乳牙存留
id: HP:0006641
hpo_term: Prominent floating ribs
chpo_term: 游离肋突出
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0012370
hpo_term: Prominence of the zygomatic bone
chpo_term: 颧骨突出
id: HP:0030812
hpo_term: Enlarged tonsils
chpo_term: 扁桃体肿大
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002273
hpo_term: Tetraparesis
chpo_term: 四肢轻瘫
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0012181
hpo_term: Entrapment neuropathy
chpo_term: 压迫性神经病