Disease (ORPHA:333):
Farber lipogranulomatosis
Acid ceramidase deficiency
Farber disease

Associated phenotypes (HPO):
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001386
hpo_term: Joint swelling
chpo_term: 关节肿胀
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0007470
hpo_term: Periarticular subcutaneous nodules
chpo_term: 关节周围皮下结节
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001615
hpo_term: Hoarse cry
chpo_term: 声音嘶哑的哭声
id: HP:0002086
hpo_term: Abnormality of the respiratory system
chpo_term: 呼吸系统异常
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003444
hpo_term: EMG: chronic denervation signs
chpo_term: 肌电图:慢性失神经支配的征象
id: HP:0003640
hpo_term: CNS foam cells
chpo_term: 中枢神经系统泡沫细胞
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0010729
hpo_term: Cherry red spot of the macula
chpo_term: 黄斑樱桃红斑
id: HP:0011842
hpo_term: Abnormal skeletal morphology
chpo_term: 骨骼形态异常
id: HP:0000502
hpo_term: Abnormal conjunctiva morphology
chpo_term: 结膜形态异常
id: HP:0000608
hpo_term: Macular degeneration
chpo_term: 黄斑变性
id: HP:0000766
hpo_term: Abnormal sternum morphology
chpo_term: 胸骨形态异常
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001155
hpo_term: Abnormality of the hand
chpo_term: 手异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001612
hpo_term: Weak cry
chpo_term: 哭声微弱
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002207
hpo_term: Diffuse reticular or finely nodular infiltrations
chpo_term: 弥漫性网状或细结节状浸润
id: HP:0002300
hpo_term: Mutism
chpo_term: 缄默症
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0002815
hpo_term: Abnormality of the knee
chpo_term: 膝关节异常
id: HP:0003019
hpo_term: Abnormality of the wrist
chpo_term: 手腕异常
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005483
hpo_term: Abnormal epiglottis morphology
chpo_term: 会厌形态异常
id: HP:0006511
hpo_term: Laryngeal stridor
chpo_term: 喉喘鸣
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0009811
hpo_term: Abnormality of the elbow
chpo_term: 肘部异常
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0025392
hpo_term: Nodular pattern on pulmonary HRCT
chpo_term: HRCT可见肺部结节状结构
id: HP:0025405
hpo_term: Visual fixation instability
chpo_term: 固视不稳定
id: HP:0025423
hpo_term: Abnormal larynx morphology
chpo_term: 喉部形态异常
id: HP:0100750
hpo_term: Atelectasis
chpo_term: 肺不张
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001686
hpo_term: Loss of voice
chpo_term: 失声
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
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:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0002385
hpo_term: Paraparesis
chpo_term: 下肢轻瘫
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0006575
hpo_term: Intrahepatic cholestasis with episodic jaundice
chpo_term: 肝内胆汁淤积伴发作性黄疸
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0009381
hpo_term: Short finger
chpo_term: 短指畸形
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛