Cornelia de Lange syndrome

Term ID

DOID:11725

Synonyms

Brachmann de Lange syndrome
De Lange syndrome

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. (4)

References

GARD:10109
ICD10CM:Q87.19
MESH:D003635
NCI:C75016
OMIM:PS122470
ORDO:199
SNOMEDCT_US_2023_03_01:40354009
UMLS_CUI:C0270972

Ontology

Human Disease ( DOID:11725 )

Relationships

is a type of: monogenic disease syndrome

monogenic disease syndrome Show first 5 Terms
has subtype: Cornelia de Lange syndrome 1 Cornelia de Lange syndrome 2 Cornelia de Lange syndrome 3 Cornelia de Lange syndrome 4 Cornelia de Lange syndrome 5

Cornelia de Lange syndrome 1 Cornelia de Lange syndrome 2 Cornelia de Lange syndrome 3 Cornelia de Lange syndrome 4 Cornelia de Lange syndrome 5 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations