01
AGL
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
Diseases
Holocarboxylase Synthetase Deficiency
holocarboxylase synthetase deficiency
- 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
- Holocarboxylase Synthetase Deficiency
- Standard Disease Name
- holocarboxylase synthetase deficiency
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- D010859
- OMIM ID
- 300337
- UMLS ID
- C0022283
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:A large brown, blue, or gray hamartoma of dermal melanocytes, usually on the shoulder and upper arm that is most commonly found in Asian populations and in females. It is sometimes associated with sensory changes in the involved skin area, but very rarely becomes cancerous.|JABL99:A neurocutaneous syndrome characterized by a bizarre, more or less symmetrical leukoderma with depigmented streaks, patches, and whorls, sometimes associated with hyperkeratosis follicularis. Associated disorders include seizures, psychomotor retardation, macrocephaly, and ophthalmological and other abnormalities.