De Lange Syndrome
Disease ID: disease_node_2376
Connections displayed (default: 10).
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| Dbxref | GARD:10109, ICD10CM:Q87.19, MESH:D003635, MIM:PS122470, NCI:C75016, ORDO:199, SNOMEDCT_US_2023_03_01:40354009, UMLS_CUI:C0270972 |
|---|---|
| Subclassof | DOID_225, DOID_0050177 |
| Data Source | DOID, MESH |
| Synonyms | Brachmann de Lange syndrome, De Lange syndrome |
| Mesh Id | D003635 |
| Mesh Label | De Lange Syndrome |
| Mesh Subclassof | D008607, D000015, D025063 |
| Doid Label | Cornelia de Lange syndrome |
| Doid Description | A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_2376 |
| Doid Id | DOID_11725 |
| Disease Has Basis In | SO_0000704 |
| Label | De Lange Syndrome |
- Incoming r'ship
SUBCLASS_OFto/from Cornelia De Lange Syndrome 2(ID:disease_node_19095) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Cornelia De Lange Syndrome 1(ID:disease_node_19096) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Cornelia De Lange Syndrome 4(ID:disease_node_19093) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Monogenic Disease(ID:disease_node_13650) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Cornelia De Lange Syndrome 5(ID:disease_node_19092) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Cornelia De Lange Syndrome 3(ID:disease_node_19094) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Cornelia De Lange Syndrome 6(ID:disease_node_19097) (Disease)