loading...| Preferred Name |
Cornelia de Lange syndrome |
|
| Synonyms |
De Lange syndrome Brachmann de Lange syndrome |
|
| Definitions |
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]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_11725 |
|
| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
|
| alternative label |
De Lange syndrome Brachmann de Lange syndrome |
|
| 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. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
|
| 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 |
|
| note |
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]. |
|
| preferred label |
Cornelia de Lange syndrome |
|
| prefLabel |
Cornelia de Lange syndrome |
|
| textual 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. |
|
| subClassOf |