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
- Kabuki Syndrome 1
- Standard Disease Name
- kabuki syndrome 1
- MeSH Tree
- No data
- ICD-10
- Q87.0
Identifiers
- DO ID
- No data
- MeSH ID
- C537705
- OMIM ID
- 147920|300867|147920
- UMLS ID
- C0796004
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:A rare, autosomal dominant or X-linked dominant inherited syndrome caused by mutations in the KMT2D gene (also known as MLL2) or the KDM6A gene. It is characterized by distinctive facial features including arched eyebrows, long eyelashes, long palpebral fissures with the lower lids turned out at the outside edges, a flat nose, and large protruding earlobes, developmental delay and intellectual disability.|JABL99:A multiple abnormality syndrome marked by characteristic facies with long palpebral fissures with eversion of the lower eyelids similar to the make-up of actors of Kabuki, a traditional Japanese theatrical form. Additional cardinal features include skeletal defects, abnormal dermatoglyphics, mental retardation, and postnatal growth deficiency. Less commonly occurring are visceral defects, susceptibility to infection, and premature breast development in girls.