01
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Hemoglobin SC Disease
- Standard Disease Name
- hemoglobin sc disease
- MeSH Tree
- No data
- ICD-10
- E72.51
Identifiers
- DO ID
- No data
- MeSH ID
- D020158
- OMIM ID
- 605899|238330|238300|238310
- UMLS ID
- C0751748
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:An autosomal recessive metabolic disorder caused by mutations in the AMT and GLDC genes. It is characterized by abnormal accumulation of glycine in the brain and other tissues. Signs and symptoms include lethargy, feeding difficulties, hypotonia, intellectual deformities, and seizures.|MSH2017_2016_08_12:An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleavage system.
Related
Related Entities
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Related Targets
target disease8 Targets
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