Wolf-Hirschhorn Syndrome
Disease ID: disease_node_11984
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| Dbxref | GARD:7896, ICD10CM:Q93.3, MESH:D054877, MIM:194190, NCI:C35528, ORDO:280, SNOMEDCT_US_2023_03_01:17122004, UMLS_CUI:C0796117, UMLS_CUI:C1956097 |
|---|---|
| Subclassof | DOID_0060388 |
| Data Source | DOID, MESH |
| Synonyms | 4p deletion syndrome, PITT SYNDROME, Pitt-Rogers-Danks Syndrome, chromosome 4p16.3 deletion syndrome |
| Mesh Id | D054877 |
| Mesh Label | Wolf-Hirschhorn Syndrome |
| Mesh Subclassof | D000015, D025063 |
| Doid Label | Wolf-Hirschhorn syndrome |
| Doid Description | 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. OMIM mapping confirmed by DO. [LS]. |
| Disease Node Id | disease_node_11984 |
| Doid Id | DOID_0050460 |
| Label | Wolf-Hirschhorn Syndrome |
| Doid Alternate Ids | DOID_6684 |
- Outgoing r'ship
SUBCLASS_OFto/from Chromosomal Deletion Syndrome(ID:disease_node_15239) (Disease)