01
TUBB8
No data
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 1
Basic Information
Grouped by core information, identifiers, and descriptions.
Quick relations do not expand inferred candidates by default. Load path-derived ingredients or herbs when needed.
Core Information
- Disease Name
- Oocyte Maturation Defect 2
- Standard Disease Name
- oocyte maturation defect 2
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- D009472
- OMIM ID
- 256730
- UMLS ID
- C0268281
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:A very rare form of neuronal ceroid lipofuscinosis inherited in an autosomal recessive pattern. During the first six to eighteen months of life development is normal. Subsequently, patients develop developmental abnormalities in speech and motor skills, blindness, epilepsy, and seizures.|MSH2017_2016_08_12:This type is caused by mutation in the gene (CLN1or PPT1) encoding palmitoyl-protein thioesterase (THIOLESTER HYDROLASES), an enzyme involved in catabolism of lipid-modified proteins.
Related
Related Entities
Direct relations and traceable candidates grouped by relation type.
Related Targets
target disease1 Targets