DiseaseID 8886
Pearson骨髓-胰腺综合征
disease
NCI2016_02D:A rare syndrome with poor prognosis caused by single, large deletions of mitochondrial DNA. It usually presents in infancy with bone marrow failure, anemia, neutropenia, thrombocytopenia, vacuolation of the h
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Disease: 1Symptom: 6Target: 12Links: 18
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 8886
- Core Entity Id
- 65881
- Source Entity Count
- 1
- Preferred Name
- Pearson'S Marrow-Pancreas Syndrome
- Name Cn
- Pearson骨髓-胰腺综合征
- Name Pinyin
- Pearson Gu Sui - Yi Xian Zong He Zheng
- Name En
- Pearson'S Marrow-Pancreas Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Pathological Conditions, Signs and SymptomsCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases; Musculoskeletal Diseases
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
- Hpo Class Name
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- NCI2016_02D:A rare syndrome with poor prognosis caused by single, large deletions of mitochondrial DNA. It usually presents in infancy with bone marrow failure, anemia, neutropenia, thrombocytopenia, vacuolation of the hematopoietic precursor cells, lactic acidosis, and fibrosis and acinar atrophy of the pancreas that results in malabsorption and chronic diarrhea. Approximately half of the patients die in infancy or early childhood.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Pearson'S Marrow-Pancreas Syndrome
Role
preferred
Name
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Role
preferred
Name
Acyl-Coa Dehydrogenase Very Long Chain Deficiency
Role
alias
Name
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Role
alias
Name
Pearson Marrow-Pancreas Syndrome
Role
alias
Name
Pearson Syndrome
Role
alias
Name
Vlcad Deficiency
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS008074HBDIS022711
Omim
201475557000
Umls
C0342784
Sym Map
SMDE12006
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0342784C3887523
Umls Sty
T047
Me Sh Class
C05C10C15C16C18C23
Tcmbank Disease
60586430
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
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
Disease Definition
NCI2016_02D:A rare syndrome with poor prognosis caused by single, large deletions of mitochondrial DNA. It usually presents in infancy with bone marrow failure, anemia, neutropenia, thrombocytopenia, vacuolation of the hematopoietic precursor cells, lactic acidosis, and fibrosis and acinar atrophy of the pancreas that results in malabsorption and chronic diarrhea. Approximately half of the patients die in infancy or early childhood.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Pathological Conditions, Signs and SymptomsCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
Umls Semantic Type Name
Disease or Syndrome