Cri-Du-Chat Syndrome
Disease ID: disease_node_2308
Connections displayed (default: 10).
Loading graph...
| Dbxref | GARD:6213, ICD10CM:Q93.4, ICD9CM:758.31, MESH:D003410, MIM:123450, NCI:C34518, SNOMEDCT_US_2023_03_01:70173007, UMLS_CUI:C0010314 |
|---|---|
| Subclassof | DOID_225, DOID_0060388 |
| Data Source | DOID, MESH |
| Synonyms | 5p deletion syndrome, 5p partial monosomy syndrome, chromosome 5 short arm deletion syndrome, chromosome 5p deletion syndrome |
| Mesh Id | D003410 |
| Mesh Label | Cri-du-Chat Syndrome |
| Mesh Subclassof | D008607, D000015, D025063 |
| Doid Label | Cri-Du-Chat syndrome |
| Doid Description | A syndrome that has_material_basis_in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_2308 |
| Doid Id | DOID_12580 |
| Label | Cri-Du-Chat Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Chromosomal Deletion Syndrome(ID:disease_node_15239) (Disease)