Cockayne Syndrome
Disease ID: disease_node_2144
Connections displayed (default: 10).
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| Dbxref | GARD:6122, ICD10CM:Q87.19, MESH:D003057, NCI:C9460, ORDO:191, SNOMEDCT_US_2023_03_01:205832003, UMLS_CUI:C0009207 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID, MESH |
| Synonyms | Neill-Dingwall syndrome, Cockayne's syndrome |
| Mesh Id | D003057 |
| Mesh Label | Cockayne Syndrome |
| Mesh Subclassof | D004392, D000015, D020271, D049914 |
| Doid Label | Cockayne syndrome |
| Doid Description | A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_2144 |
| Doid Id | DOID_2962 |
| Label | Cockayne Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Cockayne Syndrome B(ID:disease_node_20210) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Cerebrooculofacioskeletal Syndrome(ID:disease_node_20208) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Cockayne Syndrome A(ID:disease_node_20211) (Disease)