DiseaseID 7541
法伯脂肪肉芽肿病
disease
NCI2016_02D:A very rare autosomal recessive metabolic disorder affecting lipid metabolism. It is caused by mutations in the ASAH1 gene and is characterized by fatty accumulation in the body tissues. Patients develop lipo
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Disease: 1Symptom: 7Target: 18Links: 31
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 7541
- Core Entity Id
- 64351
- Source Entity Count
- 1
- Preferred Name
- Farber Lipogranulomatosis
- Name Cn
- 法伯脂肪肉芽肿病
- Name Pinyin
- Fa Bo Zhi Fang Rou Ya Zhong Bing
- Name En
- Farber Lipogranulomatosis
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- NCI2016_02D:A very rare autosomal recessive metabolic disorder affecting lipid metabolism. It is caused by mutations in the ASAH1 gene and is characterized by fatty accumulation in the body tissues. Patients develop lipogranulomas in the skin and internal organs, edema and pain in the joints and a hoarse voice. It may be associated with intellectual disability.|MSH2017_2016_08_12:A sphingolipidosis subtype that is characterized by the histological appearance of granulomatous deposits in tissues. It results from the accumulation of CERAMIDES in various tissues due to an inherited deficiency of ACID CERAMIDASE.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Farber Lipogranulomatosis
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS006232
Me Sh
D055577
Omim
228000
Umls
C0268255
Sym Map
SMDE02759
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0268255
Umls Sty
T047
Me Sh Class
C10C16C18
Etcm Disease
Farber Lipogranulomatosis
Tcmbank Disease
1137
Itcmdb Generated
ITX-DISEASE-08FA99C6BDB3
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Farber Lipogranulomatosis Details page
Do Class Name
disease of metabolism; genetic disease
Disease Type
disease
Do Disease Class
genetic disease; disease of metabolism
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Farber Lipogranulomatosis
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Neuronal diseases;Skin diseases
Disease Definition
NCI2016_02D:A very rare autosomal recessive metabolic disorder affecting lipid metabolism. It is caused by mutations in the ASAH1 gene and is characterized by fatty accumulation in the body tissues. Patients develop lipogranulomas in the skin and internal organs, edema and pain in the joints and a hoarse voice. It may be associated with intellectual disability.|MSH2017_2016_08_12:A sphingolipidosis subtype that is characterized by the histological appearance of granulomatous deposits in tissues. It results from the accumulation of CERAMIDES in various tissues due to an inherited deficiency of ACID CERAMIDASE.
Me Sh Disease Class
Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome