Terminology Service for NFDI4Health
X-Linked Cornelia De Lange Syndrome
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http://purl.obolibrary.org/obo/NCIT_C75485
An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation. [ ]
Term info
Label
X-Linked Cornelia De Lange Syndrome
Synonyms
- X-Linked Cornelia De Lange Syndrome
Legacy Concept Name
X_Linked_Cornelia_De_Lange_Syndrome
Preferred Name
X-Linked Cornelia De Lange Syndrome
Semantic Type
Disease or Syndrome
UMLS CUI
C1802395
code
C75485