loading...| Preferred Name |
Cornelia de Lange syndrome |
|
| Synonyms |
De Lange syndrome Brachmann de Lange syndrome |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_11725 |
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| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
|
| database_cross_reference |
UMLS_CUI:C0270972 ICD10CM:Q87.19 OMIM:PS122470 SNOMEDCT_US_2023_03_01:40354009 MESH:D003635 GARD:10109 NCI:C75016 ORDO:199 |
|
| 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 |
De Lange syndrome Brachmann 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 |