| Metadata | |
|---|---|
| ID | DOID:0060473 |
| Name | Kabuki syndrome |
| Definition | A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. http://ghr.nlm.nih.gov/condition/kabuki-syndrome, https://en.wikipedia.org/wiki/Kabuki_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/25281733, https://www.ncbi.nlm.nih.gov/pubmed/25972376, https://www.ncbi.nlm.nih.gov/pubmed/26512256 |
| Xrefs |
SNOMEDCT_US_2023_03_01:205805008 |
| Subsets |
DO_cancer_slim DO_rare_slim NCIthesaurus |
| Synonyms |
Kabuki make up syndrome [EXACT] KMS [EXACT] Niikawa-Kuroki syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |