Metadata | |
---|---|
ID | DOID:0050460 |
Name | Wolf-Hirschhorn syndrome |
Definition | A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3. https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome |
Xrefs |
SNOMEDCT_US_2023_03_01:17122004 |
Alternateids |
DOID:6684 |
Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
Synonyms |
4p deletion syndrome [EXACT] chromosome 4p16.3 deletion syndrome [EXACT] PITT SYNDROME [EXACT] Pitt-Rogers-Danks Syndrome [EXACT] |
Parent Relationships |