loading...| Preferred Name |
Cornelia de Lange syndrome |
| Synonyms |
Brachmann de Lange syndrome |
| Definitions |
Xref MGI. OMIM mapping confirmed by DO. [SN]. 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. |
| ID |
http://purl.obolibrary.org/obo/DOID_11725 |
| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
ICD10CM:Q87.19 SNOMEDCT_US_2022_09_01:40354009 NCI:C75016 UMLS_CUI:C0270972 ORDO:199 OMIM:PS122470 MESH:D003635 GARD:10109 |
| definition |
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. |
| disease has basis in | |
| has exact synonym |
Brachmann de Lange syndrome De Lange syndrome |
| has_obo_namespace |
disease_ontology |
| id |
DOID:11725 |
| in_subset | |
| label |
Cornelia de Lange syndrome |
| notation |
DOID:11725 |
| prefLabel |
Cornelia de Lange syndrome |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75016 | National Cancer Institute Thesaurus | LOOM |