Search Ontology:
Human Disease
Van Maldergem syndrome
- Term ID
- DOID:0060238
- Synonyms
-
- cerebro-facio-articular syndrome
- Definition
- A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation. https://www.ncbi.nlm.nih.gov/pubmed/1633641
- References
-
- GARD:5456
- MESH:C536530
- MIM:PS601390
- ORDO:314679
- SNOMEDCT_US_2023_03_01:763353000
- UMLS_CUI:C1832390
- Ontology
- Human Disease ( DOID:0060238 )
- is a type of
-
- has subtype
-
Other Pages
Genes Involved
Zebrafish Models