| Metadata | |
|---|---|
| ID | DOID:0110030 |
| PURL | http://purl.obolibrary.org/obo/DOID_0110030 Copy |
| Name | alpha thalassemia-X-linked intellectual disability syndrome |
| Definition | A syndrome characterized by a variable phenotype including distinctive craniofacial features, genital anomalies, hypotonia, and mild-to-profound developmental delay or intellectual disability, and alpha thalassemia that has_material_basis_in mutation in the ATRX gene on Xq21. https://www.ncbi.nlm.nih.gov/books/NBK1449/, https://www.ncbi.nlm.nih.gov/pubmed/1415255, https://www.ncbi.nlm.nih.gov/pubmed/7697714 |
| Xrefs |
SNOMEDCT_US_2026_03_01:715342005 |
| SKOS |
exactMatch GARD:5864 exactMatch MESH:C538258 exactMatch MIM:301040 exactMatch NCI:C118631 exactMatch ORDO:847 exactMatch UMLS_CUI:C1845055 broadMatch ICD10CM:D56.0 |
| Subsets |
DO_rare_slim |
| Synonyms |
alpha-thalassemia/mental retardation syndrome nondeletion type [EXACT] ATR, nondeletion type [EXACT] ATR-X syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |