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| Term | Cornelia de Lange syndrome | ID (Ontology) | DOID:11725 (Human Disease) |
| 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. | ||
| Also Known As | "Brachmann de Lange syndrome" ; "De Lange syndrome" | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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disease |__syndrome___________ genetic disease | |__monogenic disease__| Cornelia de Lange syndrome 18 rec. |__Cornelia de Lange syndrome 1 2 rec. |__Cornelia de Lange syndrome 2 4 rec. |__Cornelia de Lange syndrome 3 3 rec. |__Cornelia de Lange syndrome 4 3 rec. |__Cornelia de Lange syndrome 5 1 rec. |__Cornelia de Lange syndrome 6 2 rec. |
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monogenic disease syndrome |
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GARD:10109 ICD10CM:Q87.19 MESH:D003635 MIM:PS122470 NCI:C75016 ORDO:199 SNOMEDCT_US_2023_03_01:40354009 UMLS_CUI:C0270972 |
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