| Metadata | |
|---|---|
| ID | DOID:0111826 |
| Name | Abruzzo-Erickson syndrome |
| Definition | A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in the TBX22 gene on chromosome Xq21.1. https://www.ncbi.nlm.nih.gov/pubmed/22784330, https://www.ncbi.nlm.nih.gov/pubmed/839509 |
| Xrefs |
SNOMEDCT_US_2023_03_01:718574003 |
| Subsets |
DO_rare_slim |
| Synonyms |
CHARGE-like syndrome, X-linked [EXACT] cleft palate-coloboma-deafness syndrome [EXACT] |
| Parent Relationships |
is_a X-linked monogenic disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some X-linked inheritance |