01
Diseases
Chromosome Xp21 Deletion Syndrome
chromosome xp21 deletion syndrome
- Entity Type
- Diseases
- Relation Groups
- 3
- Relation Preview
- 24
Basic Information
Grouped by core information, identifiers, and descriptions.
Current candidates are inferred from disease-target-ingredient-herb paths and do not represent a formal recommendation ranking.
Core Information
- Disease Name
- Chromosome Xp21 Deletion Syndrome
- Standard Disease Name
- chromosome xp21 deletion syndrome
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- No data
- OMIM ID
- 300679
- UMLS ID
- C0795887
- HPO ID
- No data
Description and Extensions
- Description
- JABL99:Deletion of the short arm of X chromosome (Xp21). The phenotype includes the elements of Aland Island eye disease (ocular albinism, foveal hypoplasia, nystagmus, myopia, astigmatism, and color blindness) and Duchenne muscular dystrophy (pseudohypertrophic muscular dystrophy which occurs predominantly in boys), adrenal hypoplasia and retinitis pigmentosa. Mental retardation may be observed in both males and females, including otherwise asymptomatic females.
Related
Related Entities
Direct relations and traceable candidates grouped by relation type.
Candidate Ingredients
target disease -> ingredient target8 Ingredients